diff --git a/README.md b/README.md index 305efdffb..a7a646af5 100644 --- a/README.md +++ b/README.md @@ -2,9 +2,10 @@ The Monarch Initiative is an extensive knowledge graph and ecosystem of tools made for the benefit of clinicians, researchers, and scientists. The knowledge graph consists of millions of entities – genes, diseases, phenotypes, and many more – imported from dozens of sources. -We welcome the contributions of the community to help us maintain and improve the knowledge graph and the tools that use it. To help get started on contributing to the Monarch Initiative, please see our CONTRIBUTING.md file. +We welcome the contributions of the community to help us maintain and improve the knowledge graph and the tools that use it. To help get started on contributing to the Monarch Initiative, please see our [CONTRIBUTING.md](./CONTRIBUTING.md) file. # Monarch App + [![documentation](https://img.shields.io/badge/-Documentation-purple?logo=read-the-docs&logoColor=white&style=for-the-badge)](https://monarch-initiative.github.io/monarch-documentation/) ![](https://github.com/monarch-initiative/monarch-app/actions/workflows/test-backend.yaml/badge.svg) ![](https://github.com/monarch-initiative/monarch-app/actions/workflows/test-frontend.yaml/badge.svg) @@ -18,9 +19,11 @@ as well as `monarch-py`, a Python library for interacting with the Monarch Initi If you wish to run Monarch-App as a local web application, please install the requirements below and then follow on to the usage section to start the application. Refer to [Using Local Data](#using-local-data) to see how you can run the full Monarch website locally and use your own data store. +The app also offers a widget called Phenogrid that can be embedded in any website. +For more information on how to use the Phenogrid widget, please refer to the [Phenogrid documentation](./frontend/PHENOGRID.md). ### For developers The monarch-app repository contains the code to run the Monarch Initiative website in the `frontend` and `backend` directories as well as documentation, helper scripts, Docker files and services to help set up a local environment for development and for deployment. -To start development, please refer to the CONTRIBUTING.md document with this README. If you are planning to only develop the frontend or backend of the application you can refer directly to the README and CONTRIBUTING files in each of those sections. +To start development, please refer to the [CONTRIBUTING.md](./CONTRIBUTING.md) document with this README. If you are planning to only develop the frontend or backend of the application you can refer directly to the README and CONTRIBUTING files in each of those sections. diff --git a/backend/poetry.lock b/backend/poetry.lock index 267c7a528..22fc358f5 100644 --- a/backend/poetry.lock +++ b/backend/poetry.lock @@ -1,4 +1,4 @@ -# This file is automatically @generated by Poetry 1.8.2 and should not be changed by hand. +# This file is automatically @generated by Poetry 1.8.3 and should not be changed by hand. 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"b6333105d2d7b667b8d451386ff86db368efe6607739bd9629b04d32f6189b43" +content-hash = "0b6e5020d2673fd2a9c4cb007b5c8f372980c67a6f5e87a3dd2028d88cd58586" diff --git a/backend/pyproject.toml b/backend/pyproject.toml index 2d1c66852..728beef47 100644 --- a/backend/pyproject.toml +++ b/backend/pyproject.toml @@ -17,20 +17,22 @@ packages = [{ include = "monarch_py", from = "src" }] python = "^3.9" pydantic = "^2" curies = "<1" -linkml = "^1.6" +linkml = "^1.7.10" prefixmaps = "^0.2" bioregistry = "^0.10.57" oaklib = ">=0.6.6" -docker = "^7.0.0" -fastapi = "^0.111.0" +docker = "^7.1.0" +# fastapi = "^0.111.0" +fastapi = "^0.103.1" gunicorn = "^22.0.0" loguru = "*" pystow = ">=0.5.4" requests = "^2.31.0" rich = "*" -typer = "^0.12" -# spacy = ">=3.7.5,<3.8.0" +# typer = "^0.12" +typer = "^0.7.0" +typer-cli = "^0.0.13" spacy = { git = "https://github.com/explosion/spaCy.git", branch = "master" } beautifulsoup4 = "^4.12.3" diff --git a/backend/src/monarch_py/api/middleware/logging_middleware.py b/backend/src/monarch_py/api/middleware/logging_middleware.py index 9e898a104..e89605679 100644 --- a/backend/src/monarch_py/api/middleware/logging_middleware.py +++ b/backend/src/monarch_py/api/middleware/logging_middleware.py @@ -1,4 +1,5 @@ """Middleware to log requests.""" + from loguru import logger import logging @@ -10,7 +11,6 @@ class LoggingMiddleware(BaseHTTPMiddleware): - """Middleware to log requests.""" async def dispatch(self, request: Request, call_next): diff --git a/backend/src/monarch_py/api/semsim.py b/backend/src/monarch_py/api/semsim.py index dfee293e7..3366be16c 100644 --- a/backend/src/monarch_py/api/semsim.py +++ b/backend/src/monarch_py/api/semsim.py @@ -81,9 +81,9 @@ def _post_compare(request: SemsimCompareRequest): Example: 
     {
-      "subjects": ["MP:0010771","MP:0002169","MP:0005391","MP:0005389","MP:0005367"],
-      "objects": ["HP:0004325","HP:0000093","MP:0006144"],
-      "metric": "ancestor_information_content"
+        "subjects": ["MP:0010771", "MP:0002169"],
+        "objects": ["HP:0004325"]
+        "metric": "ancestor_information_content"
     }
""" @@ -94,30 +94,27 @@ def _post_compare(request: SemsimCompareRequest): @router.post("/multicompare") def _post_multicompare(request: SemsimMultiCompareRequest): """ - Pairwise similarity between two sets of terms
-
- Example:
- 
+        Pairwise similarity between two sets of terms 

+        

+        Example: 

+    
     {
-      "metric": "ancestor_information_content",
-      "subjects": [ "HP:0002616", "HP:0001763", "HP:0004944", "HP:0010749", "HP:0001533", "HP:0002020", "HP:0012450", "HP:0003394", "HP:0003771", "HP:0012378", "HP:0001278", "HP:0002827",
-    "HP:0002829", "HP:0002999", "HP:0003010"],
-      "object_sets": [
-        {
-          "id": "MGI:97486",
-          "label": "Pax2",
-          "phenotypes": [ "MP:0003675", "MP:0003675", "MP:0003675", "MP:0011382", "MP:0011366", "MP:0010097", "MP:0012536", "MP:0003558", "MP:0004729", "MP:0009113", "MP:0006090", "MP:0001325", "MP:0001325", "MP:0006309",
-    "MP:0004017", "MP:0012533", "MP:0004505", "MP:0004505", "MP:0004505"]
-        },
-        {
-          "id": "MGI:95819",
-          "label": "Grin1",
-          "phenotypes": ["MP:0001435", "MP:0001405", "MP:0002797", "MP:0001386", "MP:0001901", "MP:0001901", "MP:0001901", "MP:0001901", "MP:0001901", "MP:0002906", "MP:0004811", "MP:0001900",
-    "MP:0009748", "MP:0008428", "MP:0008428", "MP:0008428"]
-        }
-      ]
+        "metric": "ancestor_information_content",
+        "subjects": ["HP:0002616","HP:0001763","HP:0004944","HP:0010749","HP:0001533","HP:0002020","HP:0012450"],
+        "object_sets": [
+            {
+            "id": "MGI:2441732",
+            "label": "Adgrg7",
+            "phenotypes": ["MP:0011965","MP:0002834","MP:0003731","MP:0011962","MP:0011960","MP:0008489","MP:0003291","MP:0001262"]
+            },
+            {
+            "id": "MGI:87909",
+            "label": "Acta2",
+            "phenotypes": ["MP:0002834","MP:0003070","MP:0004022","MP:0004021","MP:0003026","MP:0006264","MP:0000230","MP:0000233","MP:0000272","MP:0009862"]
+            }
+        ]
     }
-        

+
""" return semsimian().multi_compare(request) diff --git a/backend/src/monarch_py/implementations/solr/solr_implementation.py b/backend/src/monarch_py/implementations/solr/solr_implementation.py index b421a053a..4605aa942 100644 --- a/backend/src/monarch_py/implementations/solr/solr_implementation.py +++ b/backend/src/monarch_py/implementations/solr/solr_implementation.py @@ -450,12 +450,12 @@ def get_association_facets( offset=0, total=query_result.response.num_found, items=[], - facet_fields=convert_facet_fields(query_result.facet_counts.facet_fields) - if query_result.facet_counts - else [], - facet_queries=convert_facet_queries(query_result.facet_counts.facet_queries) - if query_result.facet_counts - else [], + facet_fields=( + convert_facet_fields(query_result.facet_counts.facet_fields) if query_result.facet_counts else [] + ), + facet_queries=( + convert_facet_queries(query_result.facet_counts.facet_queries) if query_result.facet_counts else [] + ), ) def get_association_table( @@ -505,9 +505,9 @@ def get_mappings( subject_id=[subject_id] if isinstance(subject_id, str) else subject_id, predicate_id=[p.value for p in predicate_id] if predicate_id else None, object_id=[object_id] if isinstance(object_id, str) else object_id, - mapping_justification=[mapping_justification] - if isinstance(mapping_justification, str) - else mapping_justification, + mapping_justification=( + [mapping_justification] if isinstance(mapping_justification, str) else mapping_justification + ), offset=offset, limit=limit, ) diff --git a/backend/tests/fixtures/association_counts.py b/backend/tests/fixtures/association_counts.py index b9545ccf0..1f95df1b2 100644 --- a/backend/tests/fixtures/association_counts.py +++ b/backend/tests/fixtures/association_counts.py @@ -5,8 +5,8 @@ def association_counts(): return { "items": [ - {"label": "Phenotypes", "count": 3859, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, - {"label": "Causal Genes", "count": 119, "category": "biolink:CausalGeneToDiseaseAssociation"}, - {"label": "Correlated Genes", "count": 139, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, + {"label": "Phenotypes", "count": 3932, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, + {"label": "Causal Genes", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"}, + {"label": "Correlated Genes", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, ] } diff --git a/backend/tests/fixtures/association_counts_response.py b/backend/tests/fixtures/association_counts_response.py index fe99032cf..6b73281c7 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": 1, + "QTime": 2, "params": { "facet.query": [ '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")', @@ -45,1543 +45,1847 @@ def association_counts_response(): }, }, "response": { - "num_found": 4609, + "num_found": 4700, "start": 0, "docs": [ { - "id": "uuid:811986fe-fd1c-11ee-873f-57b99ea66a06", - "original_subject": "NCBIGene:148789", - "predicate": "biolink:gene_associated_with_condition", - "original_object": "Orphanet:588", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:orphanet", - "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:28596", - "object": "MONDO:0018939", - "subject_label": "B3GALNT2", - "subject_category": "biolink:Gene", - "subject_namespace": "HGNC", - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "object_label": "muscle-eye-brain disease", - "object_category": "biolink:Disease", - "object_namespace": "MONDO", - "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "id": "urn:uuid:2a6217c8-abe9-4e49-838b-207952cdb1be", + "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:0030712", + "object": "MONDO:0025193", + "subject_label": "oculopharyngodistal myopathy 4", + "subject_category": "biolink:Disease", + "subject_namespace": "MONDO", + "subject_closure": [ + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", + "BFO:0000002", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0025193", + "MONDO:0020121", "BFO:0000016", "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", + "MONDO:0000001", + "MONDO:0030712", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0003847", + "BFO:0000020", + "MONDO:0005336", + "MONDO:0003939", + "MONDO:0018949", + ], + "subject_closure_label": [ + "progressive muscular dystrophy", + "myopathy", + "muscle tissue disorder", + "disposition", + "skeletal muscle disorder", + "hereditary skeletal muscle disorder", + "continuant", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "entity", + "specifically dependent continuant", + "human disease", + "hereditary disease", + "oculopharyngodistal myopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "oculopharyngodistal myopathy 4", + "disease", + "distal myopathy", + ], + "object_label": "oculopharyngodistal myopathy", + "object_category": "biolink:Disease", + "object_namespace": "MONDO", + "object_closure": [ "MONDO:0700223", - "MONDO:0002320", + "MONDO:0100546", "MONDO:0005071", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "BFO:0000002", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", + "MONDO:0025193", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0700096", + "MONDO:0003847", "BFO:0000020", "MONDO:0005336", "MONDO:0003939", + "MONDO:0018949", ], "object_closure_label": [ - "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "hereditary skeletal muscle disorder", + "continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "specifically dependent continuant", "human disease", + "hereditary disease", + "oculopharyngodistal myopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "disease", + "disease", + "distal myopathy", ], "evidence_count": 0, - "grouping_key": "HGNC:28596||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "MONDO:0030712||biolink:subclass_of|MONDO:0025193", }, { - "id": "uuid:811986ff-fd1c-11ee-873f-57b99ea66a06", - "original_subject": "NCBIGene:29925", - "predicate": "biolink:gene_associated_with_condition", - "original_object": "Orphanet:588", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], - "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:orphanet", - "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:22932", - "object": "MONDO:0018939", - "subject_label": "GMPPB", - "subject_category": "biolink:Gene", - "subject_namespace": "HGNC", - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "object_label": "muscle-eye-brain disease", - "object_category": "biolink:Disease", - "object_namespace": "MONDO", - "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "id": "urn:uuid:58a207ca-1511-4ac6-ac76-19cc18c888b8", + "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:0035432", + "object": "MONDO:0016971", + "subject_label": "POMGNT2-related limb-girdle muscular dystrophy R24", + "subject_category": "biolink:Disease", + "subject_namespace": "MONDO", + "subject_closure": [ + "MONDO:0700223", + "MONDO:0100546", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0020121", + "BFO:0000002", "BFO:0000016", "MONDO:0020120", - 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"object": "MONDO:0018939", - "subject_label": "FKRP", + "subject": "HGNC:26267", + "object": "MONDO:0014101", + "subject_label": "POMK", "subject_category": "biolink:Gene", "subject_namespace": "HGNC", "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "object_label": "muscle-eye-brain disease", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "MONDO:0014101", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "BFO:0000002", + "MONDO:0000171", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "BFO:0000001", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019950", + "MONDO:0018276", "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], "object_closure_label": [ - 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"object": "MONDO:0018939", - "subject_label": "POMT2", + "subject": "HGNC:10805", + "object": "MONDO:0011968", + "subject_label": "SGCA", "subject_category": "biolink:Gene", "subject_namespace": "HGNC", "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "object_label": "muscle-eye-brain disease", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0004995", + "MONDO:0016140", + "MONDO:0700223", + "MONDO:0011968", + "MONDO:0100546", + "MONDO:0015152", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", + "MONDO:0100547", + "MONDO:0016139", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", "BFO:0000020", "MONDO:0005336", + "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], "object_closure_label": [ - 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"grouping_key": "HGNC:19743||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", }, { - "id": "uuid:81198703-fd1c-11ee-873f-57b99ea66a06", - "original_subject": "NCBIGene:2218", - "predicate": "biolink:gene_associated_with_condition", - "original_object": "Orphanet:588", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", + "id": "uuid:fcac0648-185f-11ef-ae41-094949cc661d", + "original_subject": "NCBIGene:5339", + "predicate": "biolink:causes", + "original_object": "OMIM:226670", + "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", - "primary_knowledge_source": "infores:orphanet", + "primary_knowledge_source": "infores:omim", "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:3622", - 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"heart disorder", - "familial cardiomyopathy", - "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "continuant", + "congenital nervous system disorder", + "inborn errors of metabolism", "autosomal genetic disease", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "myopathy caused by variation in POMT1", + "muscular dystrophy-dystroglycanopathy, type C", + "congenital muscular dystrophy", + "limb-girdle muscular dystrophy", + "disorder of protein O-glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "autosomal recessive disease", + "disease", ], "evidence_count": 0, - "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", + "grouping_key": "HGNC:9202||biolink:causes|MONDO:0012248", }, ], }, "facet_counts": { "facet_fields": {}, "facet_queries": { - '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 3859, + '(category:"biolink:DiseaseToPhenotypicFeatureAssociation") AND (subject:"MONDO:0020121" OR subject_closure:"MONDO:0020121")': 3932, '(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, @@ -1603,8 +1907,8 @@ 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")': 119, - '(category:"biolink:CorrelatedGeneToDiseaseAssociation") AND (object:"MONDO:0020121" OR object_closure:"MONDO:0020121")': 139, + '(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")': 146, }, }, } diff --git a/backend/tests/fixtures/association_response.py b/backend/tests/fixtures/association_response.py index ce4e668a8..dc03be25a 100644 --- a/backend/tests/fixtures/association_response.py +++ b/backend/tests/fixtures/association_response.py @@ -19,1536 +19,1840 @@ def association_response(): }, }, "response": { - "num_found": 4609, + "num_found": 4700, "start": 0, "docs": [ { - "id": "uuid:811986fe-fd1c-11ee-873f-57b99ea66a06", - "original_subject": "NCBIGene:148789", - "predicate": "biolink:gene_associated_with_condition", - 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"realizable entity", + "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", + "disposition", + "skeletal muscle disorder", + "cardiovascular disorder", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", - "disposition", + "realizable entity", + "neuromuscular disease", + "Emery-Dreifuss muscular dystrophy", + "cardiomyopathy", + "nervous system disorder", + "heart disorder", + "familial cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", "human disease", + "autosomal dominant Emery-Dreifuss muscular dystrophy", + "dilated cardiomyopathy", + "laminopathy", + "hereditary disease", + "muscular dystrophy", + "continuant", + "hereditary neuromuscular disease", + "autosomal dominant disease", + "entity", + "disease", + "intrinsic cardiomyopathy", + "disease", ], - "object_label": "Autosomal dominant inheritance", - "object_category": "biolink:PhenotypicFeature", - "object_namespace": "HP", - "object_closure": ["HP:0000001", "HP:0000006", "HP:0000005", "HP:0034345"], - "object_closure_label": [ - "Mendelian inheritance", - "Mode of inheritance", - "All", - "Autosomal dominant inheritance", - ], - "evidence_count": 2, - "grouping_key": "MONDO:0008049||biolink:has_mode_of_inheritance|HP:0000006", + "evidence_count": 0, + "grouping_key": "HGNC:17084||biolink:causes|MONDO:0013072", }, { - "id": "uuid:8099061e-fd1c-11ee-873f-57b99ea66a06", - "original_subject": "NCBIGene:84197", + "id": "uuid:fcac0801-185f-11ef-ae41-094949cc661d", + "original_subject": "NCBIGene:23345", "predicate": "biolink:causes", - "original_object": "OMIM:615249", + "original_object": "OMIM:612998", "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", "primary_knowledge_source": "infores:omim", "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:26267", - "object": "MONDO:0014101", - "subject_label": "POMK", + "subject": "HGNC:17089", + "object": "MONDO:0013071", + "subject_label": "SYNE1", "subject_category": "biolink:Gene", "subject_namespace": "HGNC", "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "object_label": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0018276", - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0004995", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0016830", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0014101", - "BFO:0000016", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0004994", "BFO:0000002", - "MONDO:0000171", "BFO:0000017", "MONDO:0019056", + "MONDO:0000426", "BFO:0000001", - "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", "MONDO:0020121", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0013071", + "MONDO:0000591", + "MONDO:0020336", + "MONDO:0100547", + "MONDO:0700096", + "BFO:0000020", + "MONDO:0005217", + "MONDO:0005021", + "MONDO:0021106", + "MONDO:0000429", "MONDO:0005336", + "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], "object_closure_label": [ - "hereditary skeletal muscle disorder", - "continuant", + "progressive muscular dystrophy", "myopathy", - "entity", - "disease", - "skeletal muscle disorder", - "nervous system disorder", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", + "familial dilated cardiomyopathy", "hereditary disease", - "congenital muscular dystrophy", - "muscular dystrophy-dystroglycanopathy", + "muscle tissue disorder", + "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "specifically dependent continuant", - "neuromuscular disease", - "congenital nervous system disorder", - "muscular dystrophy-dystroglycanopathy, type A", - "realizable entity", + "disposition", + "skeletal muscle disorder", + "cardiovascular disorder", + "hereditary skeletal muscle disorder", + "continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", - "disposition", + "realizable entity", + "neuromuscular disease", + "Emery-Dreifuss muscular dystrophy", + "cardiomyopathy", + "nervous system disorder", + "heart disorder", + "familial cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", "human disease", + "autosomal dominant Emery-Dreifuss muscular dystrophy", + "dilated cardiomyopathy", + "laminopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "autosomal dominant disease", + "entity", + "disease", + "intrinsic cardiomyopathy", + "disease", ], "evidence_count": 0, - "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", + "grouping_key": "HGNC:17089||biolink:causes|MONDO:0013071", }, { - "id": "uuid:80990674-fd1c-11ee-873f-57b99ea66a06", - "original_subject": "NCBIGene:6442", + "id": "uuid:fcac0832-185f-11ef-ae41-094949cc661d", + "original_subject": "NCBIGene:10585", "predicate": "biolink:causes", - "original_object": "OMIM:608099", + "original_object": "OMIM:609308", "category": "biolink:CausalGeneToDiseaseAssociation", "agent_type": "manual_agent", "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "knowledge_level": "knowledge_assertion", "primary_knowledge_source": "infores:omim", "provided_by": "hpoa_gene_to_disease_edges", - "subject": "HGNC:10805", - "object": "MONDO:0011968", - "subject_label": "SGCA", + "subject": "HGNC:9202", + "object": "MONDO:0012248", + "subject_label": "POMT1", "subject_category": "biolink:Gene", "subject_namespace": "HGNC", "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2K", "object_category": "biolink:Disease", "object_namespace": "MONDO", "object_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0015152", + "MONDO:0005071", "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", + "MONDO:0016184", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", - "MONDO:0004995", - "MONDO:0016140", - "MONDO:0700223", - "MONDO:0000591", - "MONDO:0015152", - "MONDO:0004994", - "MONDO:0005071", - "MONDO:0005267", + "MONDO:0016155", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", - "MONDO:0100547", - "MONDO:0016139", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0015286", + "MONDO:0018282", + "MONDO:0000001", + "MONDO:0024322", + "MONDO:0012248", "MONDO:0006025", + "MONDO:0005066", + "MONDO:0016971", + "MONDO:0017741", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019052", + "MONDO:0700070", + "MONDO:0000173", + "MONDO:0019950", + "MONDO:0000429", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000020", "MONDO:0005336", - "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], "object_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", + "disorder of glycosylation", + "autosomal recessive limb-girdle muscular dystrophy type 2K", "disposition", "skeletal muscle disorder", - "cardiomyopathy", + "congenital disorder of glycosylation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of protein O-mannosyltransferase 1", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "nervous system disorder", - "heart disorder", - "familial cardiomyopathy", - "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "continuant", + "congenital nervous system disorder", + "inborn errors of metabolism", "autosomal genetic disease", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "myopathy caused by variation in POMT1", + "muscular dystrophy-dystroglycanopathy, type C", + "congenital muscular dystrophy", + "limb-girdle muscular dystrophy", + "disorder of protein O-glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "autosomal recessive disease", + "disease", ], "evidence_count": 0, - "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", + "grouping_key": "HGNC:9202||biolink:causes|MONDO:0012248", }, ], }, diff --git a/backend/tests/fixtures/association_table.py b/backend/tests/fixtures/association_table.py index a81870814..999e9e0f1 100644 --- a/backend/tests/fixtures/association_table.py +++ b/backend/tests/fixtures/association_table.py @@ -6,77 +6,77 @@ def association_table(): return { "limit": 5, "offset": 0, - "total": 3859, + "total": 3932, "items": [ { - "id": "uuid:3c97b0fa-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b89b1b22-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0013049", "original_subject": "OMIM:612937", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0018276", - "MONDO:0024322", - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0017749", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", "MONDO:0005500", - "MONDO:0005066", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0013049", + "MONDO:0020121", "BFO:0000016", "MONDO:0020120", - "BFO:0000001", - "MONDO:0100546", "MONDO:0015286", - "MONDO:0700223", - "BFO:0000002", + "MONDO:0000001", + "MONDO:0024322", + "BFO:0000001", + "MONDO:0005066", + "MONDO:0700096", "MONDO:0002320", "MONDO:0019052", - "MONDO:0005071", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0017749", + "MONDO:0003847", + "MONDO:0019950", + "MONDO:0018276", "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", - "MONDO:0013049", - "MONDO:0020121", "MONDO:0005336", "MONDO:0003939", ], "subject_label": "DPM3-congenital disorder of glycosylation", "subject_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "disorder of multiple glycosylation", - "disease", + "muscle tissue disorder", + "disorder of glycosylation", "disposition", "skeletal muscle disorder", "congenital disorder of glycosylation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "entity", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "disorder of multiple glycosylation", "nervous system disorder", "continuant", - "disease", - "DPM3-congenital disorder of glycosylation", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "muscular dystrophy-dystroglycanopathy", - "disorder of glycosylation", - "specifically dependent continuant", - "neuromuscular disease", "congenital nervous system disorder", "inborn errors of metabolism", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "human disease", - "entity", + "hereditary disease", + "congenital muscular dystrophy", + "DPM3-congenital disorder of glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "disease", "congenital disorder of glycosylation type I", - "metabolic disease", ], "subject_taxon": None, "subject_taxon_label": None, @@ -86,73 +86,175 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0076289", - "UPHENO:0001002", - "PATO:0000001", + "BFO:0000002", + "UPHENO:0046284", + "HP:0001939", + "BFO:0000001", + "GO:0008152", + "UBERON:0000178", + "GO:1990234", + "CHEBI:33839", + "CHEBI:16670", "UPHENO:0001001", - "UPHENO:0051763", "UPHENO:0076286", - "HP:0003236", "UPHENO:0051612", - "UPHENO:0004459", - "UPHENO:0046284", - "HP:0040081", - "UPHENO:0001003", - "HP:0032180", - "UPHENO:0001005", - "BFO:0000002", - "HP:0010876", + "GO:0008150", + "BFO:0000040", + "GO:0032991", + "CHEBI:23367", + "GO:1902494", + "CHEBI:36357", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", "HP:0000001", "HP:0011021", + "UPHENO:0051763", "HP:0001871", "UPHENO:0077821", - "HP:0001939", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0051668", + "HP:0000118", + "UPHENO:0004459", + "HP:0032180", + "UBERON:0002390", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "HP:0004364", + "UPHENO:0001005", + "HP:0010876", + "UPHENO:0077826", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "GO:0005575", + "CHEBI:24431", + "UBERON:0010000", + "UBERON:0000468", + "GO:0061695", + "CHEBI:15841", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0051801", "BFO:0000001", + "BFO:0000015", + "BFO:0000004", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0076289", "HP:0430071", + "HP:0040081", + "UPHENO:0001003", + "PATO:0000001", + "UBERON:0001062", + "UPHENO:0001002", "BFO:0000020", - "UPHENO:0051801", - "HP:0004364", - "UPHENO:0051668", - "HP:0000118", "UPHENO:0002536", "UPHENO:0081547", - "UPHENO:0077826", "UPHENO:0051804", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "UBERON:0000179", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", ], "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "abnormal phenotype by ontology source", - "Abnormality of metabolism/homeostasis", - "entity", - "abnormal blood chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", + "abnormal anatomical entity", + "abnormal role bodily fluid level", + "abnormal blood protein polypeptide chain level", + "metabolic process", + "blood", + "creatine kinase complex", + "protein polypeptide chain", + "peptide", "phenotype", + "abnormal phenotype by ontology source", "abnormal hematopoietic system", "Abnormal circulating metabolite concentration", + "anatomical entity", + "transferase complex", + "macromolecule", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Elevated circulating creatine kinase concentration", + "occurrent", + "continuant", + "cellular_component", + "chemical entity", + "anatomical structure", + "organism substance", + "mesoderm-derived structure", + "bodily fluid", + "carboxamide", + "organic amino compound", + "primary amide", + "Abnormal circulating organic compound concentration", + "Abnormality of blood and blood-forming tissues", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis", + "entity", + "biological_process", + "material entity", + "protein-containing complex", + "molecular entity", "All", "Abnormality of circulating enzyme level", "continuant", "Abnormal circulating creatine kinase concentration", "phenotype by ontology source", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal anatomical entity", - "quality", + "catalytic complex", + "polyatomic entity", + "hematopoietic system", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", "abnormal role independent continuant level", "Phenotypic abnormality", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "abnormal blood protein polypeptide chain level", - "Abnormal circulating organic compound concentration", "abnormal independent continuant protein polypeptide chain level", - "Elevated circulating creatine kinase concentration", + "quality", + "multicellular anatomical structure", + "multicellular organism", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality", + "abnormal chemical entity level", + "entity", + "process", + "independent continuant", + "Abnormal circulating nitrogen compound concentration", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal blood chemical entity level", + "material anatomical entity", + "protein-containing material entity", + "anatomical system", + "main group molecular entity", + "p-block molecular entity", + "hemolymphoid system", + "haemolymphatic fluid", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", ], "object_taxon": None, "object_taxon_label": None, @@ -222,70 +324,70 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3f26adf4-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:bb301ee3-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0009676", "original_subject": "OMIM:253601", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "MONDO:0016145", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0009676", - "MONDO:0100546", "MONDO:0700223", "BFO:0000002", + "MONDO:0100546", "MONDO:0015152", "MONDO:0005071", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", - "MONDO:0016139", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0009676", + "MONDO:0000001", + "MONDO:0016145", "MONDO:0006025", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "autosomal recessive disease", - "entity", + "hereditary disease", + "muscle tissue disorder", "qualitative or quantitative defects of dysferlin", "disposition", "skeletal muscle disorder", "autosomal recessive limb-girdle muscular dystrophy type 2B", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "nervous system disorder", "continuant", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "disease", + "autosomal recessive disease", + "disease", ], "subject_taxon": None, "subject_taxon_label": None, @@ -295,55 +397,87 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001002", - "HP:0001324", - "BFO:0000020", - "HP:0003011", - "UPHENO:0001001", - "HP:0000118", - "UPHENO:0002320", - "UPHENO:0002332", - "BFO:0000001", - "PATO:0000001", "UPHENO:0075696", - "UPHENO:0002816", - "HP:0033127", - "UPHENO:0001003", "UPHENO:0001005", "BFO:0000002", + "UPHENO:0002816", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0001001", + "HP:0000118", + "UPHENO:0080555", "HP:0011804", + "UBERON:0000061", "HP:0000001", - "HP:0003701", - "UPHENO:0080556", + "BFO:0000001", + "BFO:0000001", + "UBERON:0000465", + "UBERON:0000062", + "UPHENO:0002332", "UPHENO:0082875", - "UPHENO:0080555", + "HP:0001324", + "PATO:0000001", + "BFO:0000002", + "UBERON:0000468", + "UBERON:0011216", + "UPHENO:0002320", + "UPHENO:0080556", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0000467", + "HP:0003701", + "BFO:0000020", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "BFO:0000040", + "UBERON:0001062", + "UPHENO:0001002", "UPHENO:0002536", + "UBERON:0005090", + "UBERON:0001630", ], "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormality of muscle organ physiology", - "abnormal phenotype by ontology source", - "abnormality of anatomical entity physiology", + "abnormal anatomical entity", "decreased anatomical entity strength", + "abnormal anatomical entity", + "entity", "phenotype", + "Muscle weakness", + "specifically dependent continuant", "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "abnormal phenotype by ontology source", + "quality", + "continuant", + "muscle structure", + "organ", + "Proximal muscle weakness", + "anatomical structure", "All", "continuant", "Abnormality of the musculature", "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "quality", + "musculature of body", + "musculature", "Phenotypic abnormality", - "specifically dependent continuant", + "decreased muscle organ strength", + "multicellular organism", + "organ system subdivision", + "abnormality of muscle organ physiology", "abnormal musculature", - "abnormal anatomical entity", + "entity", + "independent continuant", + "abnormality of anatomical entity physiology", "Phenotypic abnormality", - "Muscle weakness", "Abnormal muscle physiology", - "abnormal anatomical entity", - "Proximal muscle weakness", - "decreased muscle organ strength", - "entity", + "material anatomical entity", + "multicellular anatomical structure", + "anatomical system", + "muscle organ", ], "object_taxon": None, "object_taxon_label": None, @@ -413,88 +547,88 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3a903cf6-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b692845e-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0011968", "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", "MONDO:0004995", "MONDO:0016140", "MONDO:0700223", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0015152", - "MONDO:0004994", "MONDO:0005071", "MONDO:0005267", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", - "MONDO:0020121", - "BFO:0000002", - "MONDO:0006025", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "cardiomyopathy", "nervous system disorder", "heart disorder", "familial cardiomyopathy", "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "entity", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "hereditary neuromuscular disease", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease", ], "subject_taxon": None, "subject_taxon_label": None, @@ -504,66 +638,156 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001002", - "BFO:0000020", - "HP:0003011", - "UPHENO:0003070", - "PATO:0000001", + "UPHENO:0075696", + "HP:0002981", + "UPHENO:0065599", + "HP:0009127", + "BFO:0000002", + "UPHENO:0002816", + "UBERON:0002101", + "UBERON:0004709", + "UBERON:0010707", + "UBERON:0002103", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0003823", + "UBERON:0004466", + "UBERON:0004256", "UPHENO:0001001", + "UPHENO:0075952", "UPHENO:0075195", "UPHENO:0001072", - "UPHENO:0076692", "UPHENO:0002830", - "HP:0002814", - "UPHENO:0001005", - "HP:0003712", - "HP:0001430", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010538", + "UBERON:0006058", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383", + "HP:0000001", + "UPHENO:0002644", + "HP:0001437", + "BFO:0000001", + "BFO:0000001", + "UBERON:0000465", + "RO:0002577", + "PR:000050567", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0006067", + "HP:0000118", "HP:0030236", "UPHENO:0084715", "UPHENO:0084767", - "UPHENO:0084489", - "UPHENO:0075696", - "HP:0002981", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0002816", - "HP:0033127", - "UPHENO:0001003", "UPHENO:0076710", "HP:0040064", - "UPHENO:0065599", + "UBERON:0000154", + "UBERON:0000026", + "UBERON:0007271", + "UBERON:0014792", + "UBERON:0010890", + "UBERON:0003661", + "HP:0003712", + "HP:0001430", + "HP:0008968", + "UPHENO:0076692", + "UPHENO:0084489", "BFO:0000002", - "UPHENO:0015280", - "HP:0001437", - "HP:0000001", - "UPHENO:0002644", - "UPHENO:0075952", + "UBERON:0010000", + "UBERON:0000468", + "UBERON:0011216", + "UBERON:0010709", + "HP:0002814", + "UPHENO:0001005", + "UPHENO:0084763", + "UPHENO:0020584", + "UBERON:0000467", + "UBERON:0010758", + "UBERON:0002529", + "UBERON:0000978", "HP:0008981", "UPHENO:0084535", "UPHENO:0075777", "HP:0011805", - "UPHENO:0020584", - "HP:0008968", - "BFO:0000001", - "HP:0000118", + "BFO:0000020", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0003070", + "PATO:0000001", + "UBERON:0001062", + "UBERON:0000061", + "UBERON:0014892", + "UPHENO:0001002", + "UPHENO:0015280", "UPHENO:0002536", "UPHENO:0002647", + "BFO:0000004", + "UBERON:0004708", + "UBERON:0018254", + "UBERON:0005090", + "UBERON:0001630", + "UBERON:0007270", + "UBERON:0004480", + "UBERON:0014795", + "UBERON:0003663", ], "object_label": "Calf muscle hypertrophy", "object_closure_label": [ - "Abnormality of the lower limb", - "increased size of the anatomical entity in independent continuant", + "abnormal anatomical entity", + "Abnormality of the calf", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal size of anatomical entity", - "Phenotypic abnormality", + "abnormal anatomical entity", + "abnormal musculature of limb", + "abnormal limb", "entity", + "limb", + "pelvic appendage", + "hindlimb zeugopod", + "musculature of leg", + "hindlimb zeugopod muscle", "phenotype", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", + "Skeletal muscle hypertrophy", + "Abnormality of the calf musculature", + "specifically dependent continuant", "Abnormality of muscle size", "abnormally increased volume of anatomical entity", "abnormal anatomical entity morphology in the pelvic complex", "abnormal muscle organ morphology", "Abnormality of limbs", + "anatomical entity", + "anatomical structure", + "appendage girdle complex", + "hindlimb", + "musculature of hindlimb zeugopod", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the musculature of the limbs", + "abnormal anatomical entity morphology in the independent continuant", + "increased size of the anatomical entity", + "abnormal anatomical entity morphology", + "hypertrophic multicellular anatomical structure", + "continuant", + "paired limb/fin", + "skeletal musculature", + "muscle structure", + "organism subdivision", + "organ", + "lower limb segment", + "zeugopod", + "musculature of lower limb", + "muscle of leg", + "Calf muscle hypertrophy", + "hypertrophic pelvic complex muscle", + "abnormal hindlimb zeugopod muscle", + "Abnormal skeletal muscle morphology", + "material entity", + "skeletal muscle organ, vertebrate", + "limb segment", + "leg", "All", "abnormal musculature of lower limb", "abnormal hindlimb zeugopod", @@ -571,30 +795,42 @@ def association_table(): "Abnormality of the musculature", "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "abnormal anatomical entity morphology", - "hypertrophic multicellular anatomical structure", - "specifically dependent continuant", - "abnormal musculature", - "abnormal anatomical entity", + "Abnormality of the musculature of the lower limbs", + "lateral structure", + "musculature of body", + "musculature", + "appendage musculature", + "musculature of pelvic complex", + "pelvic complex muscle", + "limb muscle", + "Phenotypic abnormality", + "Muscle hypertrophy of the lower extremities", "abnormal leg", "quality", + "independent continuant", + "multicellular anatomical structure", + "multicellular organism", + "organ system subdivision", + "pelvic complex", + "paired limb/fin segment", + "multi-limb segment region", + "Abnormality of the lower limb", "Phenotypic abnormality", - "Abnormality of the musculature of the lower limbs", - "abnormal anatomical entity", - "Abnormality of the calf", - "abnormal phenotype by ontology source", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "abnormal anatomical entity morphology in the independent continuant", - "increased size of the anatomical entity", - "abnormal musculature of limb", - "abnormal limb", - "Calf muscle hypertrophy", - "hypertrophic pelvic complex muscle", - "Skeletal muscle hypertrophy", - "Abnormality of the calf musculature", + "abnormal musculature", "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", + "entity", + "posterior region of body", + "appendage", + "material anatomical entity", + "system", + "protein-containing material entity", + "anatomical system", + "muscle organ", + "subdivision of organism along appendicular axis", + "pelvic appendage musculature", + "musculature of limb", + "pelvic appendage muscle", + "hindlimb muscle", ], "object_taxon": None, "object_taxon_label": None, @@ -664,88 +900,88 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3a903cef-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b6928457-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0011968", "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", "MONDO:0004995", "MONDO:0016140", "MONDO:0700223", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0015152", - "MONDO:0004994", "MONDO:0005071", "MONDO:0005267", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", - "MONDO:0020121", - "BFO:0000002", - "MONDO:0006025", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "cardiomyopathy", "nervous system disorder", "heart disorder", "familial cardiomyopathy", "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "entity", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "hereditary neuromuscular disease", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease", ], "subject_taxon": None, "subject_taxon_label": None, @@ -755,73 +991,175 @@ def association_table(): "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0076289", - "UPHENO:0001002", - "PATO:0000001", + "BFO:0000002", + "UPHENO:0046284", + "HP:0001939", + "BFO:0000001", + "GO:0008152", + "UBERON:0000178", + "GO:1990234", + "CHEBI:33839", + "CHEBI:16670", "UPHENO:0001001", - "UPHENO:0051763", "UPHENO:0076286", - "HP:0003236", "UPHENO:0051612", - "UPHENO:0004459", - "UPHENO:0046284", - "HP:0040081", - "UPHENO:0001003", - "HP:0032180", - "UPHENO:0001005", - "BFO:0000002", - "HP:0010876", + "GO:0008150", + "BFO:0000040", + "GO:0032991", + "CHEBI:23367", + "GO:1902494", + "CHEBI:36357", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", "HP:0000001", "HP:0011021", + "UPHENO:0051763", "HP:0001871", "UPHENO:0077821", - "HP:0001939", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0051668", + "HP:0000118", + "UPHENO:0004459", + "HP:0032180", + "UBERON:0002390", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "HP:0004364", + "UPHENO:0001005", + "HP:0010876", + "UPHENO:0077826", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "GO:0005575", + "CHEBI:24431", + "UBERON:0010000", + "UBERON:0000468", + "GO:0061695", + "CHEBI:15841", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0051801", "BFO:0000001", + "BFO:0000015", + "BFO:0000004", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0076289", "HP:0430071", + "HP:0040081", + "UPHENO:0001003", + "PATO:0000001", + "UBERON:0001062", + "UPHENO:0001002", "BFO:0000020", - "UPHENO:0051801", - "HP:0004364", - "UPHENO:0051668", - "HP:0000118", "UPHENO:0002536", "UPHENO:0081547", - "UPHENO:0077826", "UPHENO:0051804", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "UBERON:0000179", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", ], "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "abnormal phenotype by ontology source", - "Abnormality of metabolism/homeostasis", - "entity", - "abnormal blood chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", + "abnormal anatomical entity", + "abnormal role bodily fluid level", + "abnormal blood protein polypeptide chain level", + "metabolic process", + "blood", + "creatine kinase complex", + "protein polypeptide chain", + "peptide", "phenotype", + "abnormal phenotype by ontology source", "abnormal hematopoietic system", "Abnormal circulating metabolite concentration", + "anatomical entity", + "transferase complex", + "macromolecule", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Elevated circulating creatine kinase concentration", + "occurrent", + "continuant", + "cellular_component", + "chemical entity", + "anatomical structure", + "organism substance", + "mesoderm-derived structure", + "bodily fluid", + "carboxamide", + "organic amino compound", + "primary amide", + "Abnormal circulating organic compound concentration", + "Abnormality of blood and blood-forming tissues", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis", + "entity", + "biological_process", + "material entity", + "protein-containing complex", + "molecular entity", "All", "Abnormality of circulating enzyme level", "continuant", "Abnormal circulating creatine kinase concentration", "phenotype by ontology source", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal anatomical entity", - "quality", + "catalytic complex", + "polyatomic entity", + "hematopoietic system", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", "abnormal role independent continuant level", "Phenotypic abnormality", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "abnormal blood protein polypeptide chain level", - "Abnormal circulating organic compound concentration", "abnormal independent continuant protein polypeptide chain level", - "Elevated circulating creatine kinase concentration", + "quality", + "multicellular anatomical structure", + "multicellular organism", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality", + "abnormal chemical entity level", + "entity", + "process", + "independent continuant", + "Abnormal circulating nitrogen compound concentration", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal blood chemical entity level", + "material anatomical entity", + "protein-containing material entity", + "anatomical system", + "main group molecular entity", + "p-block molecular entity", + "hemolymphoid system", + "haemolymphatic fluid", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", ], "object_taxon": None, "object_taxon_label": None, @@ -891,150 +1229,150 @@ def association_table(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3b3bff02-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:ba94d523-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0029136", - "original_subject": "OMIM:618138", + "subject": "MONDO:0013178", + "original_subject": "OMIM:613205", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0029136", - "MONDO:0003847", - "MONDO:0016106", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0015152", - "MONDO:0005071", "BFO:0000017", "MONDO:0019056", - "MONDO:0100228", - "BFO:0000020", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "MONDO:0006025", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0013178", + "MONDO:0000001", + "BFO:0000020", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019950", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], - "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", + "subject_label": "congenital muscular dystrophy due to LMNA mutation", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", - "progressive muscular dystrophy", "myopathy", - "disease", - "autosomal recessive disease", - "entity", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "congenital muscular dystrophy due to LMNA mutation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", "nervous system disorder", - "continuant", - "disease", + "congenital nervous system disorder", + "human disease", + "congenital muscular dystrophy", "muscular dystrophy", + "continuant", "hereditary neuromuscular disease", - "muscular dystrophy, limb-girdle, autosomal recessive 23", - "hereditary disease", - "autosomal genetic disease", + "entity", + "disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "LAMA2-related muscular dystrophy", - "human disease", + "disease", ], "subject_taxon": None, "subject_taxon_label": None, "predicate": "biolink:has_phenotype", - "object": "HP:0002500", + "object": "HP:0001252", "original_object": None, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0087902", - "UPHENO:0001002", - "UPHENO:0076702", + "UPHENO:0075696", + "HP:0003808", + "UPHENO:0002816", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0082555", "HP:0000118", - "UPHENO:0076692", + "HP:0011804", + "HP:0000001", + "BFO:0000002", + "HP:0001252", + "UPHENO:0082557", + "BFO:0000001", + "UBERON:0000062", + "UPHENO:0002332", + "UPHENO:0082875", "UPHENO:0001005", - "UPHENO:0076791", - "UPHENO:0087518", - "HP:0012443", - "PATO:0000001", - "UPHENO:0075696", - "UPHENO:0076805", - "UPHENO:0001003", "BFO:0000002", - "HP:0002011", - "HP:0002500", - "HP:0100547", - "UPHENO:0015280", - "UPHENO:0004523", - "UPHENO:0021803", - "HP:0000001", - "HP:0002060", - "UPHENO:0081435", - "HP:0012639", - "UPHENO:0020888", - "UPHENO:0087531", - "BFO:0000020", - "UPHENO:0081562", - "HP:0000707", - "UPHENO:0020584", + "UBERON:0000465", + "UBERON:0010000", + "UBERON:0000468", + "UPHENO:0002320", "BFO:0000001", - "HP:0010993", - "UPHENO:0076799", + "UBERON:0000467", + "UPHENO:0001001", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "PATO:0000001", + "BFO:0000040", + "UBERON:0001062", + "UPHENO:0001002", + "BFO:0000020", "UPHENO:0002536", + "BFO:0000004", + "UBERON:0000061", + "UBERON:0005090", + "UBERON:0011216", + "UBERON:0001630", ], - "object_label": "Abnormal cerebral white matter morphology", + "object_label": "Hypotonia", "object_closure_label": [ - "abnormal anatomical entity morphology in the brain", - "Abnormal nervous system morphology", - "abnormal forebrain morphology", - "Abnormal cerebral subcortex morphology", - "abnormal telencephalon morphology", - "entity", - "abnormal brain morphology", - "Abnormality of brain morphology", - "All", - "Abnormal cerebral morphology", - "continuant", - "Morphological central nervous system abnormality", - "Abnormal cerebral white matter morphology", - "phenotype by ontology source", - "abnormal anatomical entity morphology", - "quality", - "Phenotypic abnormality", "abnormal anatomical entity", - "abnormal nervous system morphology", + "abnormal anatomical entity", + "organ system subdivision", + "abnormal phenotype by ontology source", + "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "Abnormal muscle tone", + "continuant", + "continuant", + "material anatomical entity", + "anatomical structure", + "muscle structure", + "organ", "phenotype", - "abnormal brain white matter morphology", + "Hypotonia", + "All", + "decreased anatomical entity tone", + "Abnormality of the musculature", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "decreased muscle organ tone", + "musculature of body", + "musculature", "Phenotypic abnormality", "specifically dependent continuant", - "abnormal nervous system", - "abnormal cerebral subcortex morphology", - "abnormal anatomical entity", - "abnormal phenotype by ontology source", - "abnormal cerebral hemisphere morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal central nervous system morphology", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "abnormal cerebral hemisphere white matter morphology", - "Abnormality of the nervous system", - "abnormal anatomical entity morphology", + "quality", + "independent continuant", + "multicellular anatomical structure", + "multicellular organism", + "abnormality of muscle organ physiology", + "abnormal musculature", + "entity", + "entity", + "abnormality of anatomical entity physiology", + "Phenotypic abnormality", + "Abnormal muscle physiology", + "anatomical system", + "muscle organ", ], "object_taxon": None, "object_taxon_label": None, @@ -1047,20 +1385,20 @@ def association_table(): "agent_type": "manual_agent", "has_evidence": ["ECO:0000269"], "has_evidence_links": [{"id": "ECO:0000269", "url": "http://purl.obolibrary.org/obo/ECO_0000269"}], - "has_count": 6, - "has_total": 6, + "has_count": 21, + "has_total": 21, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0029136||biolink:has_phenotype|HP:0002500", + "grouping_key": "MONDO:0013178||biolink:has_phenotype|HP:0001252", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype", }, - "publications": ["PMID:21953594", "PMID:24957499"], + "publications": ["PMID:15148145", "PMID:18551513"], "publications_links": [ - {"id": "PMID:21953594", "url": "http://identifiers.org/pubmed/21953594"}, - {"id": "PMID:24957499", "url": "http://identifiers.org/pubmed/24957499"}, + {"id": "PMID:15148145", "url": "http://identifiers.org/pubmed/15148145"}, + {"id": "PMID:18551513", "url": "http://identifiers.org/pubmed/18551513"}, ], "frequency_qualifier": None, "onset_qualifier": None, diff --git a/backend/tests/fixtures/association_table_response.py b/backend/tests/fixtures/association_table_response.py index c50cdccec..0c099f35c 100644 --- a/backend/tests/fixtures/association_table_response.py +++ b/backend/tests/fixtures/association_table_response.py @@ -5,7 +5,7 @@ def association_table_response(): return { "responseHeader": { - "QTime": 0, + "QTime": 1, "params": { "mm": "100%", "q": "*:*", @@ -23,11 +23,11 @@ def association_table_response(): }, }, "response": { - "num_found": 3859, + "num_found": 3932, "start": 0, "docs": [ { - "id": "uuid:3c97b0fa-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b89b1b22-185f-11ef-ae41-094949cc661d", "original_subject": "OMIM:612937", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -48,137 +48,239 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0018276", - "MONDO:0024322", - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0017749", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", "MONDO:0005500", - "MONDO:0005066", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0013049", + "MONDO:0020121", "BFO:0000016", "MONDO:0020120", - "BFO:0000001", - "MONDO:0100546", "MONDO:0015286", - "MONDO:0700223", - "BFO:0000002", + "MONDO:0000001", + "MONDO:0024322", + "BFO:0000001", + "MONDO:0005066", + "MONDO:0700096", "MONDO:0002320", "MONDO:0019052", - "MONDO:0005071", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0017749", + "MONDO:0003847", + "MONDO:0019950", + "MONDO:0018276", "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", - "MONDO:0013049", - "MONDO:0020121", "MONDO:0005336", "MONDO:0003939", ], "subject_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "disorder of multiple glycosylation", - "disease", + "muscle tissue disorder", + "disorder of glycosylation", "disposition", "skeletal muscle disorder", "congenital disorder of glycosylation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "entity", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "disorder of multiple glycosylation", "nervous system disorder", "continuant", - "disease", - "DPM3-congenital disorder of glycosylation", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "muscular dystrophy-dystroglycanopathy", - "disorder of glycosylation", - "specifically dependent continuant", - "neuromuscular disease", "congenital nervous system disorder", "inborn errors of metabolism", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "human disease", - "entity", + "hereditary disease", + "congenital muscular dystrophy", + "DPM3-congenital disorder of glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "disease", "congenital disorder of glycosylation type I", - "metabolic disease", ], "object_label": "Elevated circulating creatine kinase concentration", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0076289", - "UPHENO:0001002", - "PATO:0000001", + "BFO:0000002", + "UPHENO:0046284", + "HP:0001939", + "BFO:0000001", + "GO:0008152", + "UBERON:0000178", + "GO:1990234", + "CHEBI:33839", + "CHEBI:16670", "UPHENO:0001001", - "UPHENO:0051763", "UPHENO:0076286", - "HP:0003236", "UPHENO:0051612", - "UPHENO:0004459", - "UPHENO:0046284", - "HP:0040081", - "UPHENO:0001003", - "HP:0032180", - "UPHENO:0001005", - "BFO:0000002", - "HP:0010876", + "GO:0008150", + "BFO:0000040", + "GO:0032991", + "CHEBI:23367", + "GO:1902494", + "CHEBI:36357", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", "HP:0000001", "HP:0011021", + "UPHENO:0051763", "HP:0001871", "UPHENO:0077821", - "HP:0001939", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0051668", + "HP:0000118", + "UPHENO:0004459", + "HP:0032180", + "UBERON:0002390", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "HP:0004364", + "UPHENO:0001005", + "HP:0010876", + "UPHENO:0077826", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "GO:0005575", + "CHEBI:24431", + "UBERON:0010000", + "UBERON:0000468", + "GO:0061695", + "CHEBI:15841", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0051801", "BFO:0000001", + "BFO:0000015", + "BFO:0000004", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0076289", "HP:0430071", + "HP:0040081", + "UPHENO:0001003", + "PATO:0000001", + "UBERON:0001062", + "UPHENO:0001002", "BFO:0000020", - "UPHENO:0051801", - "HP:0004364", - "UPHENO:0051668", - "HP:0000118", "UPHENO:0002536", "UPHENO:0081547", - "UPHENO:0077826", "UPHENO:0051804", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "UBERON:0000179", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", ], "object_closure_label": [ - "abnormal phenotype by ontology source", - "Abnormality of metabolism/homeostasis", - "entity", - "abnormal blood chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", + "abnormal anatomical entity", + "abnormal role bodily fluid level", + "abnormal blood protein polypeptide chain level", + "metabolic process", + "blood", + "creatine kinase complex", + "protein polypeptide chain", + "peptide", "phenotype", + "abnormal phenotype by ontology source", "abnormal hematopoietic system", "Abnormal circulating metabolite concentration", + "anatomical entity", + "transferase complex", + "macromolecule", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Elevated circulating creatine kinase concentration", + "occurrent", + "continuant", + "cellular_component", + "chemical entity", + "anatomical structure", + "organism substance", + "mesoderm-derived structure", + "bodily fluid", + "carboxamide", + "organic amino compound", + "primary amide", + "Abnormal circulating organic compound concentration", + "Abnormality of blood and blood-forming tissues", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis", + "entity", + "biological_process", + "material entity", + "protein-containing complex", + "molecular entity", "All", "Abnormality of circulating enzyme level", "continuant", "Abnormal circulating creatine kinase concentration", "phenotype by ontology source", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal anatomical entity", - "quality", + "catalytic complex", + "polyatomic entity", + "hematopoietic system", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", "abnormal role independent continuant level", "Phenotypic abnormality", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "abnormal blood protein polypeptide chain level", - "Abnormal circulating organic compound concentration", "abnormal independent continuant protein polypeptide chain level", - "Elevated circulating creatine kinase concentration", + "quality", + "multicellular anatomical structure", + "multicellular organism", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality", + "abnormal chemical entity level", + "entity", + "process", + "independent continuant", + "Abnormal circulating nitrogen compound concentration", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal blood chemical entity level", + "material anatomical entity", + "protein-containing material entity", + "anatomical system", + "main group molecular entity", + "p-block molecular entity", + "hemolymphoid system", + "haemolymphatic fluid", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", ], "evidence_count": 3, "grouping_key": "MONDO:0013049||biolink:has_phenotype|HP:0003236", @@ -187,7 +289,7 @@ def association_table_response(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3f26adf4-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:bb301ee3-185f-11ef-ae41-094949cc661d", "original_subject": "OMIM:253601", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -208,115 +310,147 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0000429", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "MONDO:0016145", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0009676", - "MONDO:0100546", "MONDO:0700223", "BFO:0000002", + "MONDO:0100546", "MONDO:0015152", "MONDO:0005071", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", - "MONDO:0016139", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0009676", + "MONDO:0000001", + "MONDO:0016145", "MONDO:0006025", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "autosomal recessive disease", - "entity", + "hereditary disease", + "muscle tissue disorder", "qualitative or quantitative defects of dysferlin", "disposition", "skeletal muscle disorder", "autosomal recessive limb-girdle muscular dystrophy type 2B", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "nervous system disorder", "continuant", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "disease", + "autosomal recessive disease", + "disease", ], "object_label": "Proximal muscle weakness", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0001002", - "HP:0001324", - "BFO:0000020", - "HP:0003011", - "UPHENO:0001001", - "HP:0000118", - "UPHENO:0002320", - "UPHENO:0002332", - "BFO:0000001", - "PATO:0000001", "UPHENO:0075696", - "UPHENO:0002816", - "HP:0033127", - "UPHENO:0001003", "UPHENO:0001005", "BFO:0000002", + "UPHENO:0002816", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0001001", + "HP:0000118", + "UPHENO:0080555", "HP:0011804", + "UBERON:0000061", "HP:0000001", - "HP:0003701", - "UPHENO:0080556", + "BFO:0000001", + "BFO:0000001", + "UBERON:0000465", + "UBERON:0000062", + "UPHENO:0002332", "UPHENO:0082875", - "UPHENO:0080555", + "HP:0001324", + "PATO:0000001", + "BFO:0000002", + "UBERON:0000468", + "UBERON:0011216", + "UPHENO:0002320", + "UPHENO:0080556", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0000467", + "HP:0003701", + "BFO:0000020", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "BFO:0000040", + "UBERON:0001062", + "UPHENO:0001002", "UPHENO:0002536", + "UBERON:0005090", + "UBERON:0001630", ], "object_closure_label": [ - "abnormality of muscle organ physiology", - "abnormal phenotype by ontology source", - "abnormality of anatomical entity physiology", + "abnormal anatomical entity", "decreased anatomical entity strength", + "abnormal anatomical entity", + "entity", "phenotype", + "Muscle weakness", + "specifically dependent continuant", "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "abnormal phenotype by ontology source", + "quality", + "continuant", + "muscle structure", + "organ", + "Proximal muscle weakness", + "anatomical structure", "All", "continuant", "Abnormality of the musculature", "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "quality", + "musculature of body", + "musculature", "Phenotypic abnormality", - "specifically dependent continuant", + "decreased muscle organ strength", + "multicellular organism", + "organ system subdivision", + "abnormality of muscle organ physiology", "abnormal musculature", - "abnormal anatomical entity", + "entity", + "independent continuant", + "abnormality of anatomical entity physiology", "Phenotypic abnormality", - "Muscle weakness", "Abnormal muscle physiology", - "abnormal anatomical entity", - "Proximal muscle weakness", - "decreased muscle organ strength", - "entity", + "material anatomical entity", + "multicellular anatomical structure", + "anatomical system", + "muscle organ", ], "evidence_count": 3, "grouping_key": "MONDO:0009676||biolink:has_phenotype|HP:0003701", @@ -325,7 +459,7 @@ def association_table_response(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3a903cf6-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b692845e-185f-11ef-ae41-094949cc661d", "original_subject": "OMIM:608099", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -346,144 +480,234 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", "MONDO:0004995", "MONDO:0016140", "MONDO:0700223", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0015152", - "MONDO:0004994", "MONDO:0005071", "MONDO:0005267", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", - "MONDO:0020121", - "BFO:0000002", - "MONDO:0006025", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "cardiomyopathy", "nervous system disorder", "heart disorder", "familial cardiomyopathy", "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "entity", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "hereditary neuromuscular disease", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease", ], "object_label": "Calf muscle hypertrophy", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0001002", - "BFO:0000020", - "HP:0003011", - "UPHENO:0003070", - "PATO:0000001", + "UPHENO:0075696", + "HP:0002981", + "UPHENO:0065599", + "HP:0009127", + "BFO:0000002", + "UPHENO:0002816", + "UBERON:0002101", + "UBERON:0004709", + "UBERON:0010707", + "UBERON:0002103", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0003823", + "UBERON:0004466", + "UBERON:0004256", "UPHENO:0001001", + "UPHENO:0075952", "UPHENO:0075195", "UPHENO:0001072", - "UPHENO:0076692", "UPHENO:0002830", - "HP:0002814", - "UPHENO:0001005", - "HP:0003712", - "HP:0001430", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010538", + "UBERON:0006058", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383", + "HP:0000001", + "UPHENO:0002644", + "HP:0001437", + "BFO:0000001", + "BFO:0000001", + "UBERON:0000465", + "RO:0002577", + "PR:000050567", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0006067", + "HP:0000118", "HP:0030236", "UPHENO:0084715", "UPHENO:0084767", - "UPHENO:0084489", - "UPHENO:0075696", - "HP:0002981", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0002816", - "HP:0033127", - "UPHENO:0001003", "UPHENO:0076710", "HP:0040064", - "UPHENO:0065599", + "UBERON:0000154", + "UBERON:0000026", + "UBERON:0007271", + "UBERON:0014792", + "UBERON:0010890", + "UBERON:0003661", + "HP:0003712", + "HP:0001430", + "HP:0008968", + "UPHENO:0076692", + "UPHENO:0084489", "BFO:0000002", - "UPHENO:0015280", - "HP:0001437", - "HP:0000001", - "UPHENO:0002644", - "UPHENO:0075952", + "UBERON:0010000", + "UBERON:0000468", + "UBERON:0011216", + "UBERON:0010709", + "HP:0002814", + "UPHENO:0001005", + "UPHENO:0084763", + "UPHENO:0020584", + "UBERON:0000467", + "UBERON:0010758", + "UBERON:0002529", + "UBERON:0000978", "HP:0008981", "UPHENO:0084535", "UPHENO:0075777", "HP:0011805", - "UPHENO:0020584", - "HP:0008968", - "BFO:0000001", - "HP:0000118", + "BFO:0000020", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0003070", + "PATO:0000001", + "UBERON:0001062", + "UBERON:0000061", + "UBERON:0014892", + "UPHENO:0001002", + "UPHENO:0015280", "UPHENO:0002536", "UPHENO:0002647", + "BFO:0000004", + "UBERON:0004708", + "UBERON:0018254", + "UBERON:0005090", + "UBERON:0001630", + "UBERON:0007270", + "UBERON:0004480", + "UBERON:0014795", + "UBERON:0003663", ], "object_closure_label": [ - "Abnormality of the lower limb", - "increased size of the anatomical entity in independent continuant", + "abnormal anatomical entity", + "Abnormality of the calf", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal size of anatomical entity", - "Phenotypic abnormality", + "abnormal anatomical entity", + "abnormal musculature of limb", + "abnormal limb", "entity", + "limb", + "pelvic appendage", + "hindlimb zeugopod", + "musculature of leg", + "hindlimb zeugopod muscle", "phenotype", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", + "Skeletal muscle hypertrophy", + "Abnormality of the calf musculature", + "specifically dependent continuant", "Abnormality of muscle size", "abnormally increased volume of anatomical entity", "abnormal anatomical entity morphology in the pelvic complex", "abnormal muscle organ morphology", "Abnormality of limbs", + "anatomical entity", + "anatomical structure", + "appendage girdle complex", + "hindlimb", + "musculature of hindlimb zeugopod", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the musculature of the limbs", + "abnormal anatomical entity morphology in the independent continuant", + "increased size of the anatomical entity", + "abnormal anatomical entity morphology", + "hypertrophic multicellular anatomical structure", + "continuant", + "paired limb/fin", + "skeletal musculature", + "muscle structure", + "organism subdivision", + "organ", + "lower limb segment", + "zeugopod", + "musculature of lower limb", + "muscle of leg", + "Calf muscle hypertrophy", + "hypertrophic pelvic complex muscle", + "abnormal hindlimb zeugopod muscle", + "Abnormal skeletal muscle morphology", + "material entity", + "skeletal muscle organ, vertebrate", + "limb segment", + "leg", "All", "abnormal musculature of lower limb", "abnormal hindlimb zeugopod", @@ -491,30 +715,42 @@ def association_table_response(): "Abnormality of the musculature", "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "abnormal anatomical entity morphology", - "hypertrophic multicellular anatomical structure", - "specifically dependent continuant", - "abnormal musculature", - "abnormal anatomical entity", + "Abnormality of the musculature of the lower limbs", + "lateral structure", + "musculature of body", + "musculature", + "appendage musculature", + "musculature of pelvic complex", + "pelvic complex muscle", + "limb muscle", + "Phenotypic abnormality", + "Muscle hypertrophy of the lower extremities", "abnormal leg", "quality", + "independent continuant", + "multicellular anatomical structure", + "multicellular organism", + "organ system subdivision", + "pelvic complex", + "paired limb/fin segment", + "multi-limb segment region", + "Abnormality of the lower limb", "Phenotypic abnormality", - "Abnormality of the musculature of the lower limbs", - "abnormal anatomical entity", - "Abnormality of the calf", - "abnormal phenotype by ontology source", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "abnormal anatomical entity morphology in the independent continuant", - "increased size of the anatomical entity", - "abnormal musculature of limb", - "abnormal limb", - "Calf muscle hypertrophy", - "hypertrophic pelvic complex muscle", - "Skeletal muscle hypertrophy", - "Abnormality of the calf musculature", + "abnormal musculature", "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities", + "entity", + "posterior region of body", + "appendage", + "material anatomical entity", + "system", + "protein-containing material entity", + "anatomical system", + "muscle organ", + "subdivision of organism along appendicular axis", + "pelvic appendage musculature", + "musculature of limb", + "pelvic appendage muscle", + "hindlimb muscle", ], "evidence_count": 3, "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0008981", @@ -523,7 +759,7 @@ def association_table_response(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3a903cef-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b6928457-185f-11ef-ae41-094949cc661d", "original_subject": "OMIM:608099", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", @@ -544,151 +780,253 @@ def association_table_response(): "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", "MONDO:0004995", "MONDO:0016140", "MONDO:0700223", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0015152", - "MONDO:0004994", "MONDO:0005071", "MONDO:0005267", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", - "MONDO:0020121", - "BFO:0000002", - "MONDO:0006025", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "cardiomyopathy", "nervous system disorder", "heart disorder", "familial cardiomyopathy", "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "entity", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "hereditary neuromuscular disease", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease", ], "object_label": "Elevated circulating creatine kinase concentration", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0076289", - "UPHENO:0001002", - "PATO:0000001", + "BFO:0000002", + "UPHENO:0046284", + "HP:0001939", + "BFO:0000001", + "GO:0008152", + "UBERON:0000178", + "GO:1990234", + "CHEBI:33839", + "CHEBI:16670", "UPHENO:0001001", - "UPHENO:0051763", "UPHENO:0076286", - "HP:0003236", "UPHENO:0051612", - "UPHENO:0004459", - "UPHENO:0046284", - "HP:0040081", - "UPHENO:0001003", - "HP:0032180", - "UPHENO:0001005", - "BFO:0000002", - "HP:0010876", + "GO:0008150", + "BFO:0000040", + "GO:0032991", + "CHEBI:23367", + "GO:1902494", + "CHEBI:36357", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", "HP:0000001", "HP:0011021", + "UPHENO:0051763", "HP:0001871", "UPHENO:0077821", - "HP:0001939", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0051668", + "HP:0000118", + "UPHENO:0004459", + "HP:0032180", + "UBERON:0002390", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "HP:0004364", + "UPHENO:0001005", + "HP:0010876", + "UPHENO:0077826", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "GO:0005575", + "CHEBI:24431", + "UBERON:0010000", + "UBERON:0000468", + "GO:0061695", + "CHEBI:15841", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0051801", "BFO:0000001", + "BFO:0000015", + "BFO:0000004", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0076289", "HP:0430071", + "HP:0040081", + "UPHENO:0001003", + "PATO:0000001", + "UBERON:0001062", + "UPHENO:0001002", "BFO:0000020", - "UPHENO:0051801", - "HP:0004364", - "UPHENO:0051668", - "HP:0000118", "UPHENO:0002536", "UPHENO:0081547", - "UPHENO:0077826", "UPHENO:0051804", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "UBERON:0000179", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963", ], "object_closure_label": [ - "abnormal phenotype by ontology source", - "Abnormality of metabolism/homeostasis", - "entity", - "abnormal blood chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", + "abnormal anatomical entity", + "abnormal role bodily fluid level", + "abnormal blood protein polypeptide chain level", + "metabolic process", + "blood", + "creatine kinase complex", + "protein polypeptide chain", + "peptide", "phenotype", + "abnormal phenotype by ontology source", "abnormal hematopoietic system", "Abnormal circulating metabolite concentration", + "anatomical entity", + "transferase complex", + "macromolecule", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Elevated circulating creatine kinase concentration", + "occurrent", + "continuant", + "cellular_component", + "chemical entity", + "anatomical structure", + "organism substance", + "mesoderm-derived structure", + "bodily fluid", + "carboxamide", + "organic amino compound", + "primary amide", + "Abnormal circulating organic compound concentration", + "Abnormality of blood and blood-forming tissues", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis", + "entity", + "biological_process", + "material entity", + "protein-containing complex", + "molecular entity", "All", "Abnormality of circulating enzyme level", "continuant", "Abnormal circulating creatine kinase concentration", "phenotype by ontology source", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal anatomical entity", - "quality", + "catalytic complex", + "polyatomic entity", + "hematopoietic system", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", "abnormal role independent continuant level", "Phenotypic abnormality", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "abnormal blood protein polypeptide chain level", - "Abnormal circulating organic compound concentration", "abnormal independent continuant protein polypeptide chain level", - "Elevated circulating creatine kinase concentration", + "quality", + "multicellular anatomical structure", + "multicellular organism", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality", + "abnormal chemical entity level", + "entity", + "process", + "independent continuant", + "Abnormal circulating nitrogen compound concentration", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal blood chemical entity level", + "material anatomical entity", + "protein-containing material entity", + "anatomical system", + "main group molecular entity", + "p-block molecular entity", + "hemolymphoid system", + "haemolymphatic fluid", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound", ], "evidence_count": 3, "grouping_key": "MONDO:0011968||biolink:has_phenotype|HP:0003236", @@ -697,8 +1035,8 @@ def association_table_response(): "has_percentage_sortable_float": [100.0], }, { - "id": "uuid:3b3bff02-fd1c-11ee-873f-57b99ea66a06", - "original_subject": "OMIM:618138", + "id": "uuid:ba94d523-185f-11ef-ae41-094949cc661d", + "original_subject": "OMIM:613205", "predicate": "biolink:has_phenotype", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "agent_type": "manual_agent", @@ -707,151 +1045,151 @@ def association_table_response(): "primary_knowledge_source": "infores:hpo-annotations", "provided_by": "hpoa_disease_to_phenotype_edges", "has_evidence": ["ECO:0000269"], - "publications": ["PMID:21953594", "PMID:24957499"], - "has_count": 6, + "publications": ["PMID:15148145", "PMID:18551513"], + "has_count": 21, "has_percentage": 100.0, "has_quotient": 1.0, - "has_total": 6, - "subject": "MONDO:0029136", - "object": "HP:0002500", - "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", + "has_total": 21, + "subject": "MONDO:0013178", + "object": "HP:0001252", + "subject_label": "congenital muscular dystrophy due to LMNA mutation", "subject_category": "biolink:Disease", "subject_namespace": "MONDO", "subject_closure": [ - "MONDO:0000429", - "MONDO:0029136", - "MONDO:0003847", - "MONDO:0016106", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0015152", - "MONDO:0005071", "BFO:0000017", "MONDO:0019056", - "MONDO:0100228", - "BFO:0000020", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "MONDO:0006025", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0013178", + "MONDO:0000001", + "BFO:0000020", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019950", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", - "progressive muscular dystrophy", "myopathy", - "disease", - "autosomal recessive disease", - "entity", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "congenital muscular dystrophy due to LMNA mutation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", "nervous system disorder", - "continuant", - "disease", + "congenital nervous system disorder", + "human disease", + "congenital muscular dystrophy", "muscular dystrophy", + "continuant", "hereditary neuromuscular disease", - "muscular dystrophy, limb-girdle, autosomal recessive 23", - "hereditary disease", - "autosomal genetic disease", + "entity", + "disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "LAMA2-related muscular dystrophy", - "human disease", + "disease", ], - "object_label": "Abnormal cerebral white matter morphology", + "object_label": "Hypotonia", "object_category": "biolink:PhenotypicFeature", "object_namespace": "HP", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0087902", - "UPHENO:0001002", - "UPHENO:0076702", + "UPHENO:0075696", + "HP:0003808", + "UPHENO:0002816", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0082555", "HP:0000118", - "UPHENO:0076692", + "HP:0011804", + "HP:0000001", + "BFO:0000002", + "HP:0001252", + "UPHENO:0082557", + "BFO:0000001", + "UBERON:0000062", + "UPHENO:0002332", + "UPHENO:0082875", "UPHENO:0001005", - "UPHENO:0076791", - "UPHENO:0087518", - "HP:0012443", - "PATO:0000001", - "UPHENO:0075696", - "UPHENO:0076805", - "UPHENO:0001003", "BFO:0000002", - "HP:0002011", - "HP:0002500", - "HP:0100547", - "UPHENO:0015280", - "UPHENO:0004523", - "UPHENO:0021803", - "HP:0000001", - "HP:0002060", - "UPHENO:0081435", - "HP:0012639", - "UPHENO:0020888", - "UPHENO:0087531", - "BFO:0000020", - "UPHENO:0081562", - "HP:0000707", - "UPHENO:0020584", + "UBERON:0000465", + "UBERON:0010000", + "UBERON:0000468", + "UPHENO:0002320", "BFO:0000001", - "HP:0010993", - "UPHENO:0076799", + "UBERON:0000467", + "UPHENO:0001001", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "PATO:0000001", + "BFO:0000040", + "UBERON:0001062", + "UPHENO:0001002", + "BFO:0000020", "UPHENO:0002536", + "BFO:0000004", + "UBERON:0000061", + "UBERON:0005090", + "UBERON:0011216", + "UBERON:0001630", ], "object_closure_label": [ - "abnormal anatomical entity morphology in the brain", - "Abnormal nervous system morphology", - "abnormal forebrain morphology", - "Abnormal cerebral subcortex morphology", - "abnormal telencephalon morphology", - "entity", - "abnormal brain morphology", - "Abnormality of brain morphology", - "All", - "Abnormal cerebral morphology", - "continuant", - "Morphological central nervous system abnormality", - "Abnormal cerebral white matter morphology", - "phenotype by ontology source", - "abnormal anatomical entity morphology", - "quality", - "Phenotypic abnormality", "abnormal anatomical entity", - "abnormal nervous system morphology", + "abnormal anatomical entity", + "organ system subdivision", + "abnormal phenotype by ontology source", + "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "Abnormal muscle tone", + "continuant", + "continuant", + "material anatomical entity", + "anatomical structure", + "muscle structure", + "organ", "phenotype", - "abnormal brain white matter morphology", + "Hypotonia", + "All", + "decreased anatomical entity tone", + "Abnormality of the musculature", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "decreased muscle organ tone", + "musculature of body", + "musculature", "Phenotypic abnormality", "specifically dependent continuant", - "abnormal nervous system", - "abnormal cerebral subcortex morphology", - "abnormal anatomical entity", - "abnormal phenotype by ontology source", - "abnormal cerebral hemisphere morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal central nervous system morphology", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "abnormal cerebral hemisphere white matter morphology", - "Abnormality of the nervous system", - "abnormal anatomical entity morphology", + "quality", + "independent continuant", + "multicellular anatomical structure", + "multicellular organism", + "abnormality of muscle organ physiology", + "abnormal musculature", + "entity", + "entity", + "abnormality of anatomical entity physiology", + "Phenotypic abnormality", + "Abnormal muscle physiology", + "anatomical system", + "muscle organ", ], "evidence_count": 3, - "grouping_key": "MONDO:0029136||biolink:has_phenotype|HP:0002500", + "grouping_key": "MONDO:0013178||biolink:has_phenotype|HP:0001252", "frequency_computed_sortable_float": [1.0], "has_quotient_sortable_float": [1.0], "has_percentage_sortable_float": [100.0], diff --git a/backend/tests/fixtures/associations.py b/backend/tests/fixtures/associations.py index 4e5a0d166..15700640e 100644 --- a/backend/tests/fixtures/associations.py +++ b/backend/tests/fixtures/associations.py @@ -6,94 +6,142 @@ def associations(): return { "limit": 20, "offset": 0, - "total": 4609, + "total": 4700, "items": [ { - "id": "uuid:811986fe-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:28596", - "original_subject": "NCBIGene:148789", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "B3GALNT2", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "id": "urn:uuid:2a6217c8-abe9-4e49-838b-207952cdb1be", + "category": "biolink:Association", + "subject": "MONDO:0030712", + "original_subject": None, + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", + "BFO:0000002", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0025193", + "MONDO:0020121", "BFO:0000016", "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", + "MONDO:0000001", + "MONDO:0030712", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0003847", + "BFO:0000020", + "MONDO:0005336", + "MONDO:0003939", + "MONDO:0018949", + ], + "subject_label": "oculopharyngodistal myopathy 4", + "subject_closure_label": [ + "progressive muscular dystrophy", + "myopathy", + "muscle tissue disorder", + "disposition", + "skeletal muscle disorder", + "hereditary skeletal muscle disorder", + "continuant", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "entity", + "specifically dependent continuant", + "human disease", + "hereditary disease", + "oculopharyngodistal myopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "oculopharyngodistal myopathy 4", + "disease", + "distal myopathy", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0025193", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0700223", - "MONDO:0002320", + "MONDO:0100546", "MONDO:0005071", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "BFO:0000002", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", + "MONDO:0025193", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0700096", + "MONDO:0003847", "BFO:0000020", "MONDO:0005336", "MONDO:0003939", + "MONDO:0018949", ], - "object_label": "muscle-eye-brain disease", + "object_label": "oculopharyngodistal myopathy", "object_closure_label": [ - "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "hereditary skeletal muscle disorder", + "continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "specifically dependent continuant", "human disease", + "hereditary disease", + "oculopharyngodistal myopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "disease", + "disease", + "distal myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:28596||biolink:gene_associated_with_condition|MONDO:0018939", - "provided_by": "hpoa_gene_to_disease_edges", + "grouping_key": "MONDO:0030712||biolink:subclass_of|MONDO:0025193", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -135,91 +183,135 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:811986ff-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:22932", - "original_subject": "NCBIGene:29925", - "subject_namespace": "HGNC", - "subject_category": "biolink:Gene", - "subject_closure": [], - "subject_label": "GMPPB", - "subject_closure_label": [], - "subject_taxon": "NCBITaxon:9606", - "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", - "object_namespace": "MONDO", - "object_category": "biolink:Disease", - "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "id": "urn:uuid:58a207ca-1511-4ac6-ac76-19cc18c888b8", + "category": "biolink:Association", + "subject": "MONDO:0035432", + "original_subject": None, + "subject_namespace": "MONDO", + "subject_category": "biolink:Disease", + "subject_closure": [ + "MONDO:0700223", + "MONDO:0100546", + "BFO:0000001", + "MONDO:0005071", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0020121", + "BFO:0000002", "BFO:0000016", "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", + "MONDO:0000001", + "BFO:0000020", + "MONDO:0016971", + "MONDO:0035432", + "MONDO:0700096", + "MONDO:0003847", + "MONDO:0005336", + "MONDO:0003939", + ], + "subject_label": "POMGNT2-related limb-girdle muscular dystrophy R24", + "subject_closure_label": [ + "progressive muscular dystrophy", + "myopathy", + "muscle tissue disorder", + "disposition", + "skeletal muscle disorder", + "hereditary skeletal muscle disorder", + "POMGNT2-related limb-girdle muscular dystrophy R24", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "entity", + "nervous system disorder", + "human disease", + "hereditary disease", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "hereditary neuromuscular disease", + "disease", + "specifically dependent continuant", + "disease", + ], + "subject_taxon": None, + "subject_taxon_label": None, + "predicate": "biolink:subclass_of", + "object": "MONDO:0016971", + "original_object": None, + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ "MONDO:0700223", - "MONDO:0002320", + "MONDO:0100546", "MONDO:0005071", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0016971", + "MONDO:0700096", "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "muscle-eye-brain disease", + "object_label": "limb-girdle muscular dystrophy", "object_closure_label": [ - "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "specifically dependent continuant", "human disease", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "hereditary neuromuscular disease", + "entity", + "disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:mondo", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:phenio"], "negated": None, "pathway": None, "evidence_count": 0, - "knowledge_level": "knowledge_assertion", - "agent_type": "manual_agent", + "knowledge_level": "not_provided", + "agent_type": "not_provided", "has_evidence": [], "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:22932||biolink:gene_associated_with_condition|MONDO:0018939", - "provided_by": "hpoa_gene_to_disease_edges", + "grouping_key": "MONDO:0035432||biolink:subclass_of|MONDO:0016971", + "provided_by": "phenio_edges", "provided_by_link": { - "id": "hpoa_gene_to_disease", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", + "id": "phenio", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "publications": [], "publications_links": [], @@ -261,75 +353,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81198700-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:17997", - "original_subject": "NCBIGene:79147", + "id": "uuid:fcac05b8-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:26267", + "original_subject": "NCBIGene:84197", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "FKRP", + "subject_label": "POMK", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", + "predicate": "biolink:causes", + "object": "MONDO:0014101", + "original_object": "OMIM:615249", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "MONDO:0014101", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "BFO:0000002", + "MONDO:0000171", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "BFO:0000001", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019950", + "MONDO:0018276", "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "muscle-eye-brain disease", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "object_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", - "disposition", - "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "muscle tissue disorder", + "disposition", + "skeletal muscle disorder", + "hereditary skeletal muscle disorder", + "continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "entity", + "muscular dystrophy-dystroglycanopathy, type A", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "congenital nervous system disorder", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "human disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -341,7 +437,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:17997||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -387,75 +483,103 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81198702-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:19743", - "original_subject": "NCBIGene:29954", + "id": "uuid:fcac060e-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10805", + "original_subject": "NCBIGene:6442", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "POMT2", + "subject_label": "SGCA", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", + "predicate": "biolink:causes", + "object": "MONDO:0011968", + "original_object": "OMIM:608099", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0004995", + "MONDO:0016140", + "MONDO:0700223", + "MONDO:0011968", + "MONDO:0100546", + "MONDO:0015152", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", + "MONDO:0100547", + "MONDO:0016139", + "MONDO:0700096", + "BFO:0000001", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", "BFO:0000020", "MONDO:0005336", + "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "muscle-eye-brain disease", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "object_closure_label": [ - "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "cardiovascular disorder", + "sarcoglycanopathy", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", + "cardiomyopathy", + "nervous system disorder", + "heart disorder", + "familial cardiomyopathy", + "qualitative or quantitative defects of alpha-sarcoglycan", + "entity", + "autosomal genetic disease", + "specifically dependent continuant", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "hereditary neuromuscular disease", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -467,7 +591,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:19743||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -513,75 +637,103 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81198703-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:3622", - "original_subject": "NCBIGene:2218", + "id": "uuid:fcac0648-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:9069", + "original_subject": "NCBIGene:5339", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "FKTN", + "subject_label": "PLEC", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", + "predicate": "biolink:causes", + "object": "MONDO:0009181", + "original_object": "OMIM:226670", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0002254", + "MONDO:0015152", + "MONDO:0005071", + "MONDO:0016106", + "MONDO:0002051", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0019268", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", + "MONDO:0005093", "BFO:0000001", - "MONDO:0000001", + "MONDO:0016198", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0019276", + "MONDO:0006541", + "MONDO:0000001", "BFO:0000020", + "MONDO:0017610", + "MONDO:0006025", + "MONDO:0100118", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0006617", + "MONDO:0000429", "MONDO:0005336", + "MONDO:0009181", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "muscle-eye-brain disease", + "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "object_closure_label": [ - "hereditary skeletal muscle disorder", + "vesiculobullous skin disease", + "progressive muscular dystrophy", + "integumentary system disorder", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", + "epidermolysis bullosa simplex 5B, with muscular dystrophy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "inherited epidermolysis bullosa", + "epidermolysis bullosa", + "qualitative or quantitative defects of plectin", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", + "nervous system disorder", + "continuant", + "skin disorder", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "syndromic disease", + "entity", + "disease", + "specifically dependent continuant", + "epidermolysis bullosa simplex", + "autosomal recessive disease", + "hereditary skin disorder", + "disease", + "epidermal disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -593,7 +745,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:3622||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:9069||biolink:causes|MONDO:0009181", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -639,75 +791,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81198704-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:37276", - "original_subject": "NCBIGene:729920", + "id": "uuid:fcac0679-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15710", + "original_subject": "NCBIGene:11155", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "CRPPA", + "subject_label": "LDB3", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", + "predicate": "biolink:causes", + "object": "MONDO:0012277", + "original_object": "OMIM:609452", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0019952", + "MONDO:0016190", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0000001", + "MONDO:0000426", "MONDO:0020121", - "BFO:0000002", + "MONDO:0018943", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0002921", + "MONDO:0012277", + "BFO:0000001", + "MONDO:0016186", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0002320", "BFO:0000020", + "MONDO:0016108", + "MONDO:0000429", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", + "MONDO:0018949", ], - "object_label": "muscle-eye-brain disease", + "object_label": "myofibrillar myopathy 4", "object_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "disease", - "continuant", + "hereditary disease", + "muscle tissue disorder", "specifically dependent continuant", - "entity", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "myofibrillar myopathy 4", + "entity", + "congenital myopathy", + "qualitative or quantitative defects of protein ZASP", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "continuant", + "congenital nervous system disorder", + "autosomal genetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "autosomal dominant distal myopathy", + "qualitative or quantitative defects of myofibrillar proteins", + "muscular dystrophy", + "myofibrillar myopathy", + "hereditary neuromuscular disease", + "autosomal dominant disease", + "disease", + "congenital structural myopathy", + "disease", + "distal myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -719,7 +889,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:37276||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:15710||biolink:causes|MONDO:0012277", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -765,75 +935,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81198705-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:19139", - "original_subject": "NCBIGene:55624", + "id": "uuid:fcac06e4-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6636", + "original_subject": "NCBIGene:4000", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "POMGNT1", + "subject_label": "LMNA", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", + "predicate": "biolink:causes", + "object": "MONDO:0014676", + "original_object": "OMIM:616516", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0004995", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0016830", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0000591", + "MONDO:0014676", + "MONDO:0100547", + "MONDO:0700096", + "MONDO:0005217", + "MONDO:0005021", + "MONDO:0021106", "BFO:0000020", "MONDO:0005336", + "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "muscle-eye-brain disease", + "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "object_closure_label": [ - "hereditary skeletal muscle disorder", + "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "cardiovascular disorder", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "realizable entity", + "neuromuscular disease", + "Emery-Dreifuss muscular dystrophy", + "cardiomyopathy", + "nervous system disorder", + "heart disorder", + "familial cardiomyopathy", + "specifically dependent continuant", + "cardiogenetic disease", "human disease", + "dilated cardiomyopathy", + "laminopathy", + "muscular dystrophy", + "continuant", + "hereditary neuromuscular disease", + "entity", + "disease", + "intrinsic cardiomyopathy", + "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -845,7 +1033,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:19139||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:6636||biolink:causes|MONDO:0014676", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -891,79 +1079,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81234217-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:11802", - "original_subject": "NCBIGene:7072", + "id": "uuid:fcac0700-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2666", + "original_subject": "NCBIGene:1605", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "TIA1", + "subject_label": "DAG1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0011466", - "original_object": "Orphanet:603", + "predicate": "biolink:causes", + "object": "MONDO:0014683", + "original_object": "OMIM:616538", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0000429", - "MONDO:0000426", - "MONDO:0003847", - "MONDO:0016108", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0011466", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0005071", + "MONDO:0000171", "BFO:0000017", + "MONDO:0014683", "MONDO:0019056", "BFO:0000001", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", "BFO:0000020", "MONDO:0700096", - "MONDO:0000001", - "MONDO:0020121", + "MONDO:0002320", + "MONDO:0019950", + "MONDO:0018276", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", - "MONDO:0018949", ], - "object_label": "distal myopathy, Welander type", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "object_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "entity", - "distal myopathy", - "disease", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "muscular dystrophy-dystroglycanopathy, type A", + "realizable entity", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", + "neuromuscular disease", "nervous system disorder", - "continuant", - "disease", - "distal myopathy, Welander type", + "congenital nervous system disorder", + "muscular dystrophy-dystroglycanopathy", + "human disease", + "congenital muscular dystrophy", "muscular dystrophy", + "continuant", "hereditary neuromuscular disease", - "hereditary disease", - "autosomal dominant distal myopathy", - "autosomal genetic disease", + "entity", + "disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal dominant disease", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "human disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -975,7 +1163,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:11802||biolink:gene_associated_with_condition|MONDO:0011466", + "grouping_key": "HGNC:2666||biolink:causes|MONDO:0014683", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1021,85 +1209,89 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:812d099f-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:25751", - "original_subject": "NCBIGene:60684", + "id": "uuid:fcac0751-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "original_subject": "NCBIGene:1303", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "TRAPPC11", + "subject_label": "COL12A1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0014144", - "original_object": "Orphanet:369840", + "predicate": "biolink:causes", + "object": "MONDO:0034022", + "original_object": "OMIM:616471", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0000429", - "MONDO:0014144", - "MONDO:0003847", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0002254", + "MONDO:0021147", + "BFO:0000001", + "MONDO:0005071", "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018243", - "BFO:0000001", - "MONDO:0005395", - "MONDO:0100546", - "MONDO:0700223", + "MONDO:0008029", "BFO:0000002", - "MONDO:0015152", - "MONDO:0005071", + "MONDO:0019952", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", + "MONDO:0019755", "MONDO:0020121", - "MONDO:0006025", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0020066", + "MONDO:0000001", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019950", + "MONDO:0034022", + "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy type R18", + "object_label": "Bethlem myopathy 2", "object_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "autosomal recessive disease", - "movement disorder", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "intellectual disability-hyperkinetic movement-truncal ataxia syndrome", - "nervous system disorder", + "Ehlers-Danlos syndrome", + "hereditary skeletal muscle disorder", "continuant", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "autosomal genetic disease", - "autosomal recessive limb-girdle muscular dystrophy type R18", - "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", - "human disease", + "congenital myopathy", + "realizable entity", + "neuromuscular disease", + "disorder of development or morphogenesis", "entity", + "Bethlem myopathy", + "nervous system disorder", + "developmental defect during embryogenesis", + "congenital nervous system disorder", + "Bethlem myopathy 2", + "specifically dependent continuant", + "human disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "syndromic disease", + "disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1111,7 +1303,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:25751||biolink:gene_associated_with_condition|MONDO:0014144", + "grouping_key": "HGNC:2188||biolink:causes|MONDO:0034022", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1157,79 +1349,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:8123410e-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "original_subject": "NCBIGene:1760", + "id": "uuid:fcac0752-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "original_subject": "NCBIGene:1303", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "DMPK", + "subject_label": "COL12A1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035649", - "original_object": "Orphanet:589830", + "predicate": "biolink:causes", + "object": "MONDO:0014654", + "original_object": "OMIM:616470", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0002254", - "MONDO:0003847", - "MONDO:0016107", - "MONDO:0016106", + "MONDO:0700223", + "MONDO:0100546", + "BFO:0000001", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0035649", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0016120", - "MONDO:0700223", - "MONDO:0005071", + "BFO:0000002", + "MONDO:0019952", "BFO:0000017", "MONDO:0019056", - "BFO:0000001", - "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0014654", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0000355", + "BFO:0000020", + "MONDO:0019950", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "adult-onset Steinert myotonic dystrophy", + "object_label": "Ullrich congenital muscular dystrophy 2", "object_closure_label": [ - "adult-onset Steinert myotonic dystrophy", - "hereditary skeletal muscle disorder", - "progressive muscular dystrophy", "myopathy", - "syndromic disease", - "entity", - "disease", - "myotonic dystrophy", - "continuant", - "disposition", - "skeletal muscle disorder", - "myotonic syndrome", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", "hereditary disease", + "muscle tissue disorder", "specifically dependent continuant", - "neuromuscular disease", - "realizable entity", + "disposition", + "Ullrich congenital muscular dystrophy 2", + "skeletal muscle disorder", + "hereditary skeletal muscle disorder", + "continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "congenital myopathy", + "realizable entity", + "neuromuscular disease", + "entity", + "nervous system disorder", + "congenital nervous system disorder", + "Ullrich congenital muscular dystrophy", "human disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1241,7 +1433,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:2933||biolink:gene_associated_with_condition|MONDO:0035649", + "grouping_key": "HGNC:2188||biolink:causes|MONDO:0014654", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1287,79 +1479,81 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81234134-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "original_subject": "NCBIGene:1760", + "id": "uuid:fcac0798-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:28596", + "original_subject": "NCBIGene:148789", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "DMPK", + "subject_label": "B3GALNT2", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035648", - "original_object": "Orphanet:589827", + "predicate": "biolink:causes", + "object": "MONDO:0014071", + "original_object": "OMIM:615181", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0002254", - "MONDO:0003847", - "MONDO:0016107", - "MONDO:0016106", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0035648", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0016120", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0005071", + "MONDO:0000171", "BFO:0000017", "MONDO:0019056", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0018939", + "MONDO:0000001", + "MONDO:0014071", + "MONDO:0700096", "BFO:0000001", + "MONDO:0002320", + "MONDO:0019950", + "MONDO:0018276", "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", - "MONDO:0020121", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "juvenile-onset Steinert myotonic dystrophy", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "object_closure_label": [ - "hereditary skeletal muscle disorder", - "progressive muscular dystrophy", "myopathy", - "syndromic disease", - "entity", - "disease", - "myotonic dystrophy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "myotonic syndrome", - "nervous system disorder", - "continuant", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "specifically dependent continuant", - "neuromuscular disease", - "realizable entity", + "muscle-eye-brain disease", + "hereditary skeletal muscle disorder", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", - "juvenile-onset Steinert myotonic dystrophy", + "muscular dystrophy-dystroglycanopathy, type A", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "entity", + "congenital nervous system disorder", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "human disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "continuant", + "hereditary neuromuscular disease", + "disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1371,7 +1565,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:2933||biolink:gene_associated_with_condition|MONDO:0035648", + "grouping_key": "HGNC:28596||biolink:causes|MONDO:0014071", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1417,97 +1611,89 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81234140-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "original_subject": "NCBIGene:1760", + "id": "uuid:fcac07b9-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3007", + "original_subject": "NCBIGene:54344", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "DMPK", + "subject_label": "DPM3", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035646", - "original_object": "Orphanet:589821", + "predicate": "biolink:causes", + "object": "MONDO:0013049", + "original_object": "OMIM:612937", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "BFO:0000020", - "MONDO:0005217", - "MONDO:0002254", - "MONDO:0003847", - "MONDO:0016107", - "MONDO:0016106", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0017749", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0024573", - "MONDO:0016120", - "MONDO:0005045", - "MONDO:0004995", - "MONDO:0700223", - "MONDO:0000591", - "MONDO:0035646", - "MONDO:0004994", - "MONDO:0005071", - "MONDO:0005267", - "BFO:0000002", + "MONDO:0005500", "BFO:0000017", "MONDO:0019056", - "MONDO:0008056", - "MONDO:0100547", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0000001", + "MONDO:0013049", "MONDO:0020121", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0015286", + "MONDO:0000001", + "MONDO:0024322", + "BFO:0000001", + "MONDO:0005066", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019052", + "MONDO:0003847", + "MONDO:0019950", + "MONDO:0018276", + "BFO:0000020", "MONDO:0005336", "MONDO:0003939", ], - "object_label": "congenital-onset Steinert myotonic dystrophy", + "object_label": "DPM3-congenital disorder of glycosylation", "object_closure_label": [ - "hypertrophic cardiomyopathy", - "cardiovascular disorder", - "hereditary skeletal muscle disorder", - "continuant", - "progressive muscular dystrophy", "myopathy", - "syndromic disease", - "disease", - "myotonic dystrophy", - "intrinsic cardiomyopathy", - "entity", + "muscle tissue disorder", + "disorder of glycosylation", "disposition", "skeletal muscle disorder", - "myotonic syndrome", - "cardiomyopathy", - "nervous system disorder", - "heart disorder", - "familial cardiomyopathy", - "disease", - "muscular dystrophy", - "specifically dependent continuant", - "hereditary neuromuscular disease", - "familial hypertrophic cardiomyopathy", - "hereditary disease", - "neuromuscular disease", - "myotonic dystrophy type 1", - "congenital-onset Steinert myotonic dystrophy", - "realizable entity", + "congenital disorder of glycosylation", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", - "cardiogenetic disease", + "entity", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "disorder of multiple glycosylation", + "nervous system disorder", + "continuant", + "congenital nervous system disorder", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "human disease", + "hereditary disease", + "congenital muscular dystrophy", + "DPM3-congenital disorder of glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "disease", + "congenital disorder of glycosylation type I", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1519,7 +1705,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:2933||biolink:gene_associated_with_condition|MONDO:0035646", + "grouping_key": "HGNC:3007||biolink:causes|MONDO:0013049", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1565,79 +1751,125 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:8123410b-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "original_subject": "NCBIGene:1760", + "id": "uuid:fcac0828-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3622", + "original_subject": "NCBIGene:2218", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "DMPK", + "subject_label": "FKTN", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035650", - "original_object": "Orphanet:589833", + "predicate": "biolink:causes", + "object": "MONDO:0012699", + "original_object": "OMIM:611588", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0002254", - "MONDO:0003847", - "MONDO:0016107", + "MONDO:0004995", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0015152", + "MONDO:0005071", + "MONDO:0005267", "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", + "MONDO:0016155", + "MONDO:0700067", + "MONDO:0004994", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0020121", "BFO:0000016", "MONDO:0020120", + "MONDO:0015286", + "MONDO:0018282", + "MONDO:0000001", + "MONDO:0024322", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0012699", "BFO:0000001", - "MONDO:0100546", - "MONDO:0016120", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0005071", - "BFO:0000017", - "MONDO:0019056", - "BFO:0000020", + "MONDO:0005066", + "MONDO:0016971", + "MONDO:0017741", + "MONDO:0100547", + "MONDO:0016139", "MONDO:0700096", - "MONDO:0035650", - "MONDO:0000001", - "MONDO:0020121", + "MONDO:0002320", + "MONDO:0019052", + "MONDO:0005217", + "MONDO:0005021", + "MONDO:0003847", + "MONDO:0000173", + "MONDO:0019950", + "MONDO:0000429", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000020", "MONDO:0005336", + "MONDO:0016333", "MONDO:0003939", ], - "object_label": "late-onset Steinert myotonic dystrophy", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2M", "object_closure_label": [ - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "syndromic disease", - "late-onset Steinert myotonic dystrophy", - "disease", - "myotonic dystrophy", + "familial dilated cardiomyopathy", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", + "disorder of glycosylation", "disposition", "skeletal muscle disorder", - "myotonic syndrome", + "congenital disorder of glycosylation", + "cardiovascular disorder", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "autosomal recessive limb-girdle muscular dystrophy type 2M", + "entity", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", + "myopathy caused by variation in FKTN", + "cardiomyopathy", "nervous system disorder", + "heart disorder", "continuant", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", + "familial cardiomyopathy", + "congenital nervous system disorder", + "inborn errors of metabolism", + "autosomal genetic disease", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", "specifically dependent continuant", - "neuromuscular disease", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", + "cardiogenetic disease", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", - "entity", + "dilated cardiomyopathy", + "hereditary disease", + "muscular dystrophy-dystroglycanopathy, type C", + "congenital muscular dystrophy", + "limb-girdle muscular dystrophy", + "disorder of protein O-glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1649,7 +1881,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:2933||biolink:gene_associated_with_condition|MONDO:0035650", + "grouping_key": "HGNC:3622||biolink:causes|MONDO:0012699", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1695,75 +1927,93 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:8123422f-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:1480", - "original_subject": "NCBIGene:825", + "id": "uuid:fcac08c2-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3007", + "original_subject": "NCBIGene:54344", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "CAPN3", + "subject_label": "DPM3", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035433", - "original_object": "Orphanet:565909", + "predicate": "biolink:causes", + "object": "MONDO:0033556", + "original_object": "OMIM:618992", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0016106", + "MONDO:0000172", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0017749", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "BFO:0000001", - "MONDO:0100546", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0005071", + "MONDO:0005500", "BFO:0000017", - "MONDO:0035433", "MONDO:0019056", + "BFO:0000001", + "MONDO:0013049", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0015286", + "MONDO:0000001", + "MONDO:0024322", "BFO:0000020", + "MONDO:0005066", + "MONDO:0033556", "MONDO:0700096", - "MONDO:0000001", - "MONDO:0020121", + "MONDO:0002320", + "MONDO:0019052", + "MONDO:0003847", + "MONDO:0019950", + "MONDO:0018276", "MONDO:0005336", "MONDO:0003939", ], - "object_label": "calpain-3-related limb-girdle muscular dystrophy D4", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15", "object_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", - "progressive muscular dystrophy", + "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15", "myopathy", - "disease", + "muscle tissue disorder", + "disorder of glycosylation", "disposition", "skeletal muscle disorder", - "nervous system disorder", - "continuant", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "specifically dependent continuant", - "calpain-3-related limb-girdle muscular dystrophy D4", - "neuromuscular disease", - "realizable entity", + "congenital disorder of glycosylation", + "muscular dystrophy-dystroglycanopathy, type B", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "disorder of multiple glycosylation", + "nervous system disorder", + "congenital nervous system disorder", + "inborn errors of metabolism", + "muscular dystrophy-dystroglycanopathy", "human disease", + "hereditary disease", + "congenital muscular dystrophy", + "DPM3-congenital disorder of glycosylation", + "muscular dystrophy", + "continuant", + "hereditary neuromuscular disease", "entity", + "disease", + "specifically dependent continuant", + "disease", + "congenital disorder of glycosylation type I", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1775,7 +2025,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:1480||biolink:gene_associated_with_condition|MONDO:0035433", + "grouping_key": "HGNC:3007||biolink:causes|MONDO:0033556", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1821,75 +2071,81 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81198701-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:6511", - "original_subject": "NCBIGene:9215", + "id": "uuid:fcac08e0-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:7577", + "original_subject": "NCBIGene:4625", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "LARGE1", + "subject_label": "MYH7", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", + "predicate": "biolink:causes", + "object": "MONDO:0008050", + "original_object": "OMIM:160500", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0019952", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "BFO:0000002", + "MONDO:0016195", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0008050", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0003847", "BFO:0000020", "MONDO:0005336", "MONDO:0003939", + "MONDO:0018949", ], - "object_label": "muscle-eye-brain disease", + "object_label": "MYH7-related skeletal myopathy", "object_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "disease", - "continuant", - "specifically dependent continuant", - "entity", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "congenital myopathy", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "continuant", + "congenital nervous system disorder", + "specifically dependent continuant", + "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "hereditary disease", + "muscular dystrophy", + "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)", + "hereditary neuromuscular disease", + "entity", + "disease", + "MYH7-related skeletal myopathy", + "disease", + "distal myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -1901,7 +2157,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:6511||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:7577||biolink:causes|MONDO:0008050", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -1947,75 +2203,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81198706-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:9202", - "original_subject": "NCBIGene:10585", + "id": "uuid:fcac0722-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:11802", + "original_subject": "NCBIGene:7072", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "POMT1", + "subject_label": "TIA1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "original_object": "Orphanet:588", + "predicate": "biolink:causes", + "object": "MONDO:0011466", + "original_object": "OMIM:604454", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "BFO:0000001", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0018939", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0002320", - "MONDO:0005071", "BFO:0000017", "MONDO:0019056", - "MONDO:0700096", - "BFO:0000001", - "MONDO:0000001", + "MONDO:0000426", + "MONDO:0011466", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0700096", "BFO:0000020", + "MONDO:0016108", + "MONDO:0000429", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", + "MONDO:0018949", ], - "object_label": "muscle-eye-brain disease", + "object_label": "distal myopathy, Welander type", "object_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "disease", - "continuant", + "hereditary disease", + "muscle tissue disorder", "specifically dependent continuant", - "entity", "disposition", "skeletal muscle disorder", - "muscle-eye-brain disease", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "neuromuscular disease", - "congenital nervous system disorder", - "realizable entity", + "distal myopathy, Welander type", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "realizable entity", + "neuromuscular disease", + "entity", + "nervous system disorder", + "continuant", + "autosomal genetic disease", "human disease", + "autosomal dominant distal myopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "autosomal dominant disease", + "disease", + "disease", + "distal myopathy", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -2027,7 +2287,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:9202||biolink:gene_associated_with_condition|MONDO:0018939", + "grouping_key": "HGNC:11802||biolink:causes|MONDO:0011466", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -2073,79 +2333,79 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:81234216-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:11280", - "original_subject": "NCBIGene:8878", + "id": "uuid:fcac05e8-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15685", + "original_subject": "NCBIGene:11041", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "SQSTM1", + "subject_label": "B4GAT1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0011466", - "original_object": "Orphanet:603", + "predicate": "biolink:causes", + "object": "MONDO:0014120", + "original_object": "OMIM:615287", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0000429", - "MONDO:0000426", - "MONDO:0003847", - "MONDO:0016108", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0011466", - "MONDO:0700223", "BFO:0000002", - "MONDO:0005071", + "MONDO:0000171", "BFO:0000017", "MONDO:0019056", + "MONDO:0020121", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", "BFO:0000001", - "BFO:0000020", "MONDO:0700096", - "MONDO:0000001", - "MONDO:0020121", + "MONDO:0002320", + "MONDO:0014120", + "MONDO:0019950", + "MONDO:0018276", + "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939", - "MONDO:0018949", ], - "object_label": "distal myopathy, Welander type", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "object_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "entity", - "distal myopathy", - "disease", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", - "nervous system disorder", + "hereditary skeletal muscle disorder", "continuant", - "disease", - "distal myopathy, Welander type", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "autosomal dominant distal myopathy", - "autosomal genetic disease", - "specifically dependent continuant", - "neuromuscular disease", - "autosomal dominant disease", - "realizable entity", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", + "entity", + "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", + "muscular dystrophy-dystroglycanopathy, type A", + "realizable entity", + "neuromuscular disease", + "nervous system disorder", + "congenital nervous system disorder", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "human disease", + "congenital muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:orphanet", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, "evidence_count": 0, @@ -2157,7 +2417,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:11280||biolink:gene_associated_with_condition|MONDO:0011466", + "grouping_key": "HGNC:15685||biolink:causes|MONDO:0014120", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -2203,97 +2463,118 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:84dcf958-fd1c-11ee-873f-57b99ea66a06", - "category": "biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation", - "subject": "MONDO:0008049", - "original_subject": "OMIM:160300", - "subject_namespace": "MONDO", - "subject_category": "biolink:Disease", - "subject_closure": [ - "MONDO:0003847", + "id": "uuid:fcac07fe-185f-11ef-ae41-094949cc661d", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:17084", + "original_subject": "NCBIGene:23224", + "subject_namespace": "HGNC", + "subject_category": "biolink:Gene", + "subject_closure": [], + "subject_label": "SYNE2", + "subject_closure_label": [], + "subject_taxon": "NCBITaxon:9606", + "subject_taxon_label": "Homo sapiens", + "predicate": "biolink:causes", + "object": "MONDO:0013072", + "original_object": "OMIM:612999", + "object_namespace": "MONDO", + "object_category": "biolink:Disease", + "object_closure": [ + "MONDO:0004995", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0016830", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0700223", - "BFO:0000016", - "MONDO:0005071", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "MONDO:0008049", - "BFO:0000020", - "MONDO:0700096", + "MONDO:0000426", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0000591", + "MONDO:0020336", + "MONDO:0013072", + "MONDO:0100547", + "MONDO:0700096", + "BFO:0000020", + "MONDO:0005217", + "MONDO:0005021", + "MONDO:0021106", + "MONDO:0003847", + "MONDO:0000429", "MONDO:0005336", + "MONDO:0016333", "MONDO:0003939", - "MONDO:0018949", ], - "subject_label": "myopathy, distal, infantile-onset", - "subject_closure_label": [ - "hereditary skeletal muscle disorder", + "object_label": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", + "object_closure_label": [ + "progressive muscular dystrophy", "myopathy", - "distal myopathy", - "disease", - "continuant", - "entity", - "skeletal muscle disorder", - "nervous system disorder", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", + "familial dilated cardiomyopathy", + "muscle tissue disorder", "specifically dependent continuant", - "neuromuscular disease", - "myopathy, distal, infantile-onset", - "realizable entity", + "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", + "disposition", + "skeletal muscle disorder", + "cardiovascular disorder", + "hereditary skeletal muscle disorder", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", - "disposition", + "realizable entity", + "neuromuscular disease", + "Emery-Dreifuss muscular dystrophy", + "cardiomyopathy", + "nervous system disorder", + "heart disorder", + "familial cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", "human disease", - ], - "subject_taxon": None, - "subject_taxon_label": None, - "predicate": "biolink:has_mode_of_inheritance", - "object": "HP:0000006", - "original_object": None, - "object_namespace": "HP", - "object_category": "biolink:PhenotypicFeature", - "object_closure": ["HP:0000001", "HP:0000006", "HP:0000005", "HP:0034345"], - "object_label": "Autosomal dominant inheritance", - "object_closure_label": [ - "Mendelian inheritance", - "Mode of inheritance", - "All", - "Autosomal dominant inheritance", + "autosomal dominant Emery-Dreifuss muscular dystrophy", + "dilated cardiomyopathy", + "laminopathy", + "hereditary disease", + "muscular dystrophy", + "continuant", + "hereditary neuromuscular disease", + "autosomal dominant disease", + "entity", + "disease", + "intrinsic cardiomyopathy", + "disease", ], "object_taxon": None, "object_taxon_label": None, - "primary_knowledge_source": "infores:hpo-annotations", - "aggregator_knowledge_source": ["infores:monarchinitiative"], + "primary_knowledge_source": "infores:omim", + "aggregator_knowledge_source": ["infores:monarchinitiative", "infores:medgen"], "negated": None, "pathway": None, - "evidence_count": 2, + "evidence_count": 0, "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_evidence": [], + "has_evidence_links": [], "has_count": None, "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "MONDO:0008049||biolink:has_mode_of_inheritance|HP:0000006", - "provided_by": "hpoa_disease_mode_of_inheritance_edges", + "grouping_key": "HGNC:17084||biolink:causes|MONDO:0013072", + "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { - "id": "hpoa_disease_mode_of_inheritance", - "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_mode_of_inheritance", + "id": "hpoa_gene_to_disease", + "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#gene_to_disease", }, - "publications": ["OMIM:160300"], - "publications_links": [{"id": "OMIM:160300", "url": "http://identifiers.org/mim/160300"}], + "publications": [], + "publications_links": [], "frequency_qualifier": None, "onset_qualifier": None, "sex_qualifier": None, @@ -2332,74 +2613,94 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:8099061e-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:fcac0801-185f-11ef-ae41-094949cc661d", "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:26267", - "original_subject": "NCBIGene:84197", + "subject": "HGNC:17089", + "original_subject": "NCBIGene:23345", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "POMK", + "subject_label": "SYNE1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", "predicate": "biolink:causes", - "object": "MONDO:0014101", - "original_object": "OMIM:615249", + "object": "MONDO:0013071", + "original_object": "OMIM:612998", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0018276", - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0004995", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0016830", + "MONDO:0005071", + "MONDO:0005267", + "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0700223", - "MONDO:0014101", - "BFO:0000016", - "MONDO:0002320", - "MONDO:0005071", + "MONDO:0004994", "BFO:0000002", - "MONDO:0000171", "BFO:0000017", "MONDO:0019056", + "MONDO:0000426", "BFO:0000001", - "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", "MONDO:0020121", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0013071", + "MONDO:0000591", + "MONDO:0020336", + "MONDO:0100547", + "MONDO:0700096", + "BFO:0000020", + "MONDO:0005217", + "MONDO:0005021", + "MONDO:0021106", + "MONDO:0000429", "MONDO:0005336", + "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "object_label": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "object_closure_label": [ - "hereditary skeletal muscle disorder", - "continuant", + "progressive muscular dystrophy", "myopathy", - "entity", - "disease", - "skeletal muscle disorder", - "nervous system disorder", - "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", + "familial dilated cardiomyopathy", "hereditary disease", - "congenital muscular dystrophy", - "muscular dystrophy-dystroglycanopathy", + "muscle tissue disorder", + "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "specifically dependent continuant", - "neuromuscular disease", - "congenital nervous system disorder", - "muscular dystrophy-dystroglycanopathy, type A", - "realizable entity", + "disposition", + "skeletal muscle disorder", + "cardiovascular disorder", + "hereditary skeletal muscle disorder", + "continuant", "hereditary neurological disease", "musculoskeletal system disorder", - "muscle tissue disorder", - "disposition", + "realizable entity", + "neuromuscular disease", + "Emery-Dreifuss muscular dystrophy", + "cardiomyopathy", + "nervous system disorder", + "heart disorder", + "familial cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", "human disease", + "autosomal dominant Emery-Dreifuss muscular dystrophy", + "dilated cardiomyopathy", + "laminopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "autosomal dominant disease", + "entity", + "disease", + "intrinsic cardiomyopathy", + "disease", ], "object_taxon": None, "object_taxon_label": None, @@ -2416,7 +2717,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", + "grouping_key": "HGNC:17089||biolink:causes|MONDO:0013071", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -2462,98 +2763,106 @@ def associations(): "stage_qualifier_closure_label": [], }, { - "id": "uuid:80990674-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:fcac0832-185f-11ef-ae41-094949cc661d", "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:10805", - "original_subject": "NCBIGene:6442", + "subject": "HGNC:9202", + "original_subject": "NCBIGene:10585", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "SGCA", + "subject_label": "POMT1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", "predicate": "biolink:causes", - "object": "MONDO:0011968", - "original_object": "OMIM:608099", + "object": "MONDO:0012248", + "original_object": "OMIM:609308", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0015152", + "MONDO:0005071", "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", + "MONDO:0016184", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", - "MONDO:0004995", - "MONDO:0016140", - "MONDO:0700223", - "MONDO:0000591", - "MONDO:0015152", - "MONDO:0004994", - "MONDO:0005071", - "MONDO:0005267", + "MONDO:0016155", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", - "MONDO:0100547", - "MONDO:0016139", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0015286", + "MONDO:0018282", + "MONDO:0000001", + "MONDO:0024322", + "MONDO:0012248", "MONDO:0006025", + "MONDO:0005066", + "MONDO:0016971", + "MONDO:0017741", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019052", + "MONDO:0700070", + "MONDO:0000173", + "MONDO:0019950", + "MONDO:0000429", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000020", "MONDO:0005336", - "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939", ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2K", "object_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", + "disorder of glycosylation", + "autosomal recessive limb-girdle muscular dystrophy type 2K", "disposition", "skeletal muscle disorder", - "cardiomyopathy", + "congenital disorder of glycosylation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of protein O-mannosyltransferase 1", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "nervous system disorder", - "heart disorder", - "familial cardiomyopathy", - "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "continuant", + "congenital nervous system disorder", + "inborn errors of metabolism", "autosomal genetic disease", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", "human disease", + "myopathy caused by variation in POMT1", + "muscular dystrophy-dystroglycanopathy, type C", + "congenital muscular dystrophy", + "limb-girdle muscular dystrophy", + "disorder of protein O-glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "autosomal recessive disease", + "disease", ], "object_taxon": None, "object_taxon_label": None, @@ -2570,7 +2879,7 @@ def associations(): "has_total": None, "has_percentage": None, "has_quotient": None, - "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", + "grouping_key": "HGNC:9202||biolink:causes|MONDO:0012248", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", diff --git a/backend/tests/fixtures/associations_compact.py b/backend/tests/fixtures/associations_compact.py index 5ed835579..602b5168d 100644 --- a/backend/tests/fixtures/associations_compact.py +++ b/backend/tests/fixtures/associations_compact.py @@ -6,186 +6,186 @@ def associations_compact(): return { "limit": 20, "offset": 0, - "total": 4609, + "total": 4700, "items": [ { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:28596", - "subject_label": "B3GALNT2", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:Association", + "subject": "MONDO:0030712", + "subject_label": "oculopharyngodistal myopathy 4", + "predicate": "biolink:subclass_of", + "object": "MONDO:0025193", + "object_label": "oculopharyngodistal myopathy", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:22932", - "subject_label": "GMPPB", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:Association", + "subject": "MONDO:0035432", + "subject_label": "POMGNT2-related limb-girdle muscular dystrophy R24", + "predicate": "biolink:subclass_of", + "object": "MONDO:0016971", + "object_label": "limb-girdle muscular dystrophy", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:17997", - "subject_label": "FKRP", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:26267", + "subject_label": "POMK", + "predicate": "biolink:causes", + "object": "MONDO:0014101", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:19743", - "subject_label": "POMT2", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:10805", + "subject_label": "SGCA", + "predicate": "biolink:causes", + "object": "MONDO:0011968", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:3622", - "subject_label": "FKTN", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:9069", + "subject_label": "PLEC", + "predicate": "biolink:causes", + "object": "MONDO:0009181", + "object_label": "epidermolysis bullosa simplex 5B, with muscular dystrophy", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:37276", - "subject_label": "CRPPA", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15710", + "subject_label": "LDB3", + "predicate": "biolink:causes", + "object": "MONDO:0012277", + "object_label": "myofibrillar myopathy 4", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:19139", - "subject_label": "POMGNT1", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:6636", + "subject_label": "LMNA", + "predicate": "biolink:causes", + "object": "MONDO:0014676", + "object_label": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:11802", - "subject_label": "TIA1", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0011466", - "object_label": "distal myopathy, Welander type", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2666", + "subject_label": "DAG1", + "predicate": "biolink:causes", + "object": "MONDO:0014683", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:25751", - "subject_label": "TRAPPC11", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0014144", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type R18", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "subject_label": "COL12A1", + "predicate": "biolink:causes", + "object": "MONDO:0034022", + "object_label": "Bethlem myopathy 2", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "subject_label": "DMPK", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035649", - "object_label": "adult-onset Steinert myotonic dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:2188", + "subject_label": "COL12A1", + "predicate": "biolink:causes", + "object": "MONDO:0014654", + "object_label": "Ullrich congenital muscular dystrophy 2", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "subject_label": "DMPK", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035648", - "object_label": "juvenile-onset Steinert myotonic dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:28596", + "subject_label": "B3GALNT2", + "predicate": "biolink:causes", + "object": "MONDO:0014071", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "subject_label": "DMPK", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035646", - "object_label": "congenital-onset Steinert myotonic dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3007", + "subject_label": "DPM3", + "predicate": "biolink:causes", + "object": "MONDO:0013049", + "object_label": "DPM3-congenital disorder of glycosylation", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:2933", - "subject_label": "DMPK", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035650", - "object_label": "late-onset Steinert myotonic dystrophy", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3622", + "subject_label": "FKTN", + "predicate": "biolink:causes", + "object": "MONDO:0012699", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2M", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:1480", - "subject_label": "CAPN3", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0035433", - "object_label": "calpain-3-related limb-girdle muscular dystrophy D4", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:3007", + "subject_label": "DPM3", + "predicate": "biolink:causes", + "object": "MONDO:0033556", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:6511", - "subject_label": "LARGE1", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:7577", + "subject_label": "MYH7", + "predicate": "biolink:causes", + "object": "MONDO:0008050", + "object_label": "MYH7-related skeletal myopathy", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:9202", - "subject_label": "POMT1", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:11802", + "subject_label": "TIA1", + "predicate": "biolink:causes", + "object": "MONDO:0011466", + "object_label": "distal myopathy, Welander type", "negated": None, }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:11280", - "subject_label": "SQSTM1", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0011466", - "object_label": "distal myopathy, Welander type", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:15685", + "subject_label": "B4GAT1", + "predicate": "biolink:causes", + "object": "MONDO:0014120", + "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13", "negated": None, }, { - "category": "biolink:DiseaseOrPhenotypicFeatureToGeneticInheritanceAssociation", - "subject": "MONDO:0008049", - "subject_label": "myopathy, distal, infantile-onset", - "predicate": "biolink:has_mode_of_inheritance", - "object": "HP:0000006", - "object_label": "Autosomal dominant inheritance", + "category": "biolink:CausalGeneToDiseaseAssociation", + "subject": "HGNC:17084", + "subject_label": "SYNE2", + "predicate": "biolink:causes", + "object": "MONDO:0013072", + "object_label": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant", "negated": None, }, { "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:26267", - "subject_label": "POMK", + "subject": "HGNC:17089", + "subject_label": "SYNE1", "predicate": "biolink:causes", - "object": "MONDO:0014101", - "object_label": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12", + "object": "MONDO:0013071", + "object_label": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant", "negated": None, }, { "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:10805", - "subject_label": "SGCA", + "subject": "HGNC:9202", + "subject_label": "POMT1", "predicate": "biolink:causes", - "object": "MONDO:0011968", - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "object": "MONDO:0012248", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2K", "negated": None, }, ], diff --git a/backend/tests/fixtures/autocomplete.py b/backend/tests/fixtures/autocomplete.py index f6a4b85d4..7c45f160d 100644 --- a/backend/tests/fixtures/autocomplete.py +++ b/backend/tests/fixtures/autocomplete.py @@ -15,15 +15,7 @@ def autocomplete(): "full_name": None, "deprecated": None, "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.", - "xref": [ - "DOID:0111095", - "EFO:0009044", - "GARD:15170", - "GTR:AN1051558", - "NCIT:C125702", - "OMIM:227650", - "UMLS:C3469521", - ], + "xref": ["DOID:0111095", "GARD:15170", "GTR:AN1051558", "NCIT:C125702", "OMIM:227650", "UMLS:C3469521"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -122,940 +114,1576 @@ def autocomplete(): "Male infertility", ], "has_phenotype_closure": [ - "HP:0000789", "UPHENO:0049964", "HP:0003254", - "UPHENO:0049671", + "HP:0003213", "UPHENO:0051124", - "UPHENO:0049952", - "HP:0003214", - "HP:0000365", - "UPHENO:0052231", + "GO:0006950", + "GO:0051716", + "GO:0051319", + "GO:0007049", + "GO:0022402", + "UBERON:0002105", + "GO:0007605", + "GO:0050954", + "HP:0000364", + "UPHENO:0050625", "HP:0000598", "UPHENO:0005518", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0012373", + "UPHENO:0052970", + "HP:0000486", + "NBO:0000444", + "UBERON:0006800", "HP:0000549", + "UBERON:0000466", + "BFO:0000141", + "UPHENO:0049622", + "GO:0007610", + "HP:0000496", + "UPHENO:0080585", + "UBERON:0010222", + "NBO:0000338", + "HP:0011018", + "UBERON:0000015", + "GO:0050896", + "HP:0000708", "UPHENO:0079828", "UPHENO:0049586", "UPHENO:0000543", - "UPHENO:0080352", "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0075159", + "UPHENO:0080351", + "UPHENO:0041226", + "HP:0000085", "UPHENO:0082129", - "UPHENO:0041821", - "UPHENO:0052970", + "GO:0007600", + "UPHENO:0041075", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0082444", + "HP:0000081", "UPHENO:0075787", - "UPHENO:0080351", - "HP:0004742", "HP:0011793", - "UPHENO:0080581", - "HP:0011028", + "HP:0002664", + "HP:0001909", + "HP:0004377", + "UBERON:0000477", + "GO:0003013", "HP:0000978", - "HP:0003213", "UPHENO:0051097", - "HP:0011025", - "UPHENO:0082444", - "UPHENO:0020041", - "HP:0009942", - "HP:0005918", - "HP:0009998", - "HP:0011018", + "HP:0001933", + 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"UBERON:0005156", + "HP:0011028", + "UBERON:0010712", "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", "HP:0008373", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", "UPHENO:0066972", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0050113", + "HP:0000078", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", + "UBERON:0001474", + "CL:0000329", + "UPHENO:0082875", + "HP:0011355", "HP:0000104", - "UPHENO:0002219", - "HP:0000957", - "HP:0009823", - "UPHENO:0087510", - "HP:0012874", - "HP:0009825", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "HP:0001249", + "UBERON:0001968", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002386", + "UBERON:0015021", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0010741", + "UPHENO:0081755", + "UBERON:0002471", + "CL:0000151", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0086956", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", + "UBERON:0002104", "HP:0006503", - "HP:0000085", - "HP:0003953", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0002973", - "UPHENO:0076703", - "HP:0003974", - ], - "has_phenotype_closure_label": [ - "Infertility", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", - "delayed biological_process", - "Growth delay", - "decreased height of the multicellular organism", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0002332", + "HP:0012874", + "HP:0040070", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0009341", + "UPHENO:0079872", + "HP:0009142", + "UBERON:0004535", + "UBERON:0002495", + "UPHENO:0002751", + "UPHENO:0085356", + "GO:0019953", + "UBERON:0001423", + "UPHENO:0087355", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "UBERON:0011584", + "UPHENO:0084987", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "HP:0008669", + "HP:0001627", + "UPHENO:0049970", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0052231", + "HP:0000028", + "HP:0000811", + "UPHENO:0052778", + "HP:0003953", + "GO:0048609", + "GO:0003006", + "HP:0001000", + "UPHENO:0080382", + "GO:0000003", + "UBERON:0011216", + "UBERON:0004175", + "HP:0004322", + "UPHENO:0087973", + "HP:0000035", + "UPHENO:0078452", + "HP:0005918", + "HP:0012243", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0086201", + "UPHENO:0086198", + "HP:0012041", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "UPHENO:0005597", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000473", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "CL:0000586", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0053298", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "CL:0000413", + "CL:0000039", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411", + ], + "has_phenotype_closure_label": [ + "Decreased fertility", + "Decreased fertility in males", + "abnormal cellular response to stress", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle phase", + "cell cycle process", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal ear", + "ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "immaterial anatomical entity", + "Strabismus", + "body part movement", + "anatomical line", + "behavior process", + "behavior", + "abnormal eye movement", + "eye movement", + "response to stimulus", + "abnormal response to stimulus", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", "abnormality of multicellular organism height", + "Short stature", + "delayed biological_process", + "decreased height of the multicellular organism", "Abnormality of body height", - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", + "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", + "U-shaped anatomical entity", + "3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", + "Hematological neoplasm", + "vasculature", + "abnormality of cardiovascular system physiology", "Bruising susceptibility", - "abnormal blood circulation", "Subcutaneous hemorrhage", + "Abnormal bleeding", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", + "Abnormality of blood circulation", + "vascular system", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "phalanx", + "digitopodium bone", + "skeleton of manual acropodium", + "acropodial skeleton", "Duplication of phalanx of hand", - "Male infertility", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", + "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", + "manual digit bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal phalanx morphology", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cellular process", + "abnormal growth", + "decreased anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "decreased height of the anatomical entity", + "visual system", + "abnormal size of eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of the eye", + "orbital region", + "decreased size of the eyeball of camera-type eye", "Abnormality of the face", + "Microphthalmia", + "sense organ", + "eyeball of camera-type eye", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "simple eye", + "abnormal orbital region", "abnormal face morphology", - "U-shaped anatomical entity", "Abnormal eye morphology", - "Abnormality of the orbital region", + "camera-type eye", + "sensory system", "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", + "enucleated reticulocyte", + "abnormally decreased number of reticulocyte", + "Reticulocytopenia", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "axial skeleton plus cranial skeleton", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormality of anatomical entity physiology", + "skeleton of manus", + "abnormal manus morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", + "autopodial skeleton", + "paired limb/fin skeleton", + "abnormal digit morphology", + "absent anatomical entity", + "system", + "aplasia or hypoplasia of manual digit 1", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "agenesis of anatomical entity", + "multi-limb segment region", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "manual digit plus metapodial segment", + "digit", + "Hyperpigmentation of the skin", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "aplastic anatomical entity", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "genitourinary system", "decreased qualitatively reproductive process", "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", + "occurrent", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "entity", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "abnormal skeletal system morphology", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "appendicular skeletal system", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "face", + "aplasia or hypoplasia of manual digit", + "skeleton", + "male gamete generation", + "Cognitive impairment", + "abnormal male reproductive system", + "paired limb/fin", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "Male infertility", + "abnormal limb morphology", + "regulation of metabolic process", "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "Pancytopenia", - "abnormally decreased number of platelet", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormal bone marrow cell morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", "Abnormality of limb bone morphology", "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal appendicular skeleton morphology", + "cardiovascular system", "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "acropodium region", + "Intellectual disability", + "bone marrow", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "cell cycle", + "pectoral complex", + "trunk region element", + "Anemic pallor", + "cellular metabolic process", + "Abnormality of neutrophils", + "abnormal central nervous system morphology", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "Macule", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", + "sexual reproduction", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "Short thumb", + "Abnormality of the kidney", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormal cerebral morphology", + "abnormal blood circulation", + "arm bone", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal hematopoietic system", + "Renal agenesis", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", + "bone cell", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "thoracic cavity element", "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormality of ear physiology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", "abnormal arm", + "Atypical behavior", "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", "absent digit", - "Absent forearm bone", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "abnormal renal system", + "phenotype", + "Abnormal cell morphology", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", + "abnormally decreased number of hematopoietic cell", "phenotype by ontology source", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", + "quality", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", "abnormal phenotype by ontology source", + "absent manual digit", "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormal finger phalanx morphology", + "subdivision of trunk", + "anatomical system", + "material anatomical entity", + "Hypergonadotropic hypogonadism", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "continuant", + "abnormal neutrophil", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "abnormal nervous system", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "skeletal element", + "zeugopod", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "regional part of nervous system", + "abdominal segment element", + "abnormal reproductive system morphology", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", + "biological regulation", + "abdominal segment of trunk", + "biological_process", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "abnormal head morphology", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "abnormal gamete generation", + "leukocyte", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "abnormality of nervous system physiology", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "limb endochondral element", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Decreased fertility in males", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", - "continuant", - "Abnormality of brain morphology", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", "abnormal limb bone", "Abnormal nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", - "absent radius bone in the independent continuant", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "skeleton of manual digitopodium", + "primary circulatory organ", + "manual digit 1 plus metapodial segment", + "abdomen", + "viscus", + "abnormal hematopoietic cell morphology", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Absent forearm bone", + "Leukemia", "abnormal cell morphology", "abnormal nervous system morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", + "organism", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "Abnormal granulocyte count", + "eye", + "compound organ", + "limb long bone", + "zeugopodial skeleton", + "Abnormal granulocyte morphology", + "neutrophil", + "manual digit 1 phalanx", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "multicellular organismal reproductive process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "decreased length of manual digit", + "abnormal craniocervical region morphology", + "immaterial entity", "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "Abnormality of head or neck", "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", + "abnormal reproductive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Decreased head circumference", + "abnormal telencephalon morphology", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "circulatory organ", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", "abnormal long bone morphology", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", "abnormal heart morphology", - "delayed growth", + "aplasia or hypoplasia of radius bone", + "Abnormal reproductive system morphology", "abnormal cardiovascular system", - "Abnormality of bone marrow cell morphology", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "Abnormality of skin morphology", "Abnormality of the integument", "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", + "Abnormality of bone marrow cell morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", + "Neutropenia", + "reproductive structure", + "abnormal integument", + "Growth delay", + "kidney", + "abnormal biological_process", "Cafe-au-lait spot", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", "abnormal pigmentation in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", + "Abnormal forearm bone morphology", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Decreased fertility", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", + "Abnormal heart morphology", "abnormality of reproductive system physiology", - "Hypogonadism", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", + "limb segment", + "absent sperm", + "Abnormality of reproductive system physiology", + "gamete", + "Puberty and gonadal disorders", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "oxygen accumulating cell", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", + "absent kidney", "Absent radius", - "Aplasia/Hypoplasia of the radius", - "absent radius bone in the forelimb", - "absent anatomical entity in the skeletal system", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the vasculature", + "abnormal radius bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "forelimb zeugopod", + "abnormal testis morphology", "aplastic forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone", - "abnormal forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", + "absent forelimb zeugopod bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "eukaryotic cell", "abnormal limb long bone morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "abnormal cellular metabolic process", - "Abnormality of cardiovascular system morphology", + "Aplasia involving bones of the upper limbs", + "Pallor", "abnormal bone of pectoral complex morphology", - "abnormal anatomical entity", - "Abnormal forearm morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb zeugopod skeleton", + "abnormal size of skull", + "forelimb long bone", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal brain morphology", "abnormal number of anatomical enitites of type platelet", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "abnormal male reproductive system morphology", + "manual digit", + "abnormal multicellular organismal reproductive process", + "abnormal granulocyte morphology", + "Azoospermia", + "Abnormal testis morphology", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "absent gamete", + "organism substance", + "interphase", + "semen", + "Abnormality of male external genitalia", + "anatomical entity", + "decreased qualitatively biological_process", + "platelet", + "absent sperm in the independent continuant", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "developmental process involved in reproduction", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "germ cell", + "external male genitalia", + "testis", + "Abnormal external genitalia", + "abnormal gamete", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "male organism", + "male germ cell", + "internal genitalia", + "abnormal internal genitalia", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "sensory perception", + "abnormal developmental process", + "haploid cell", + "sperm", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "skeleton of digitopodium", + "Short digit", + "Short finger", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "reticulocyte", ], "has_phenotype_count": 34, "highlight": None, @@ -1090,10 +1718,10 @@ def autocomplete(): "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", "HP:0007018", - "HP:0000582", "HP:0008551", + "HP:0040012", + "HP:0000582", "HP:0000470", "HP:0009777", "HP:0004590", @@ -1103,8 +1731,8 @@ def autocomplete(): "HP:0000465", "HP:0000957", "HP:0002023", - "HP:0000316", "HP:0001510", + "HP:0000316", "HP:0001776", "HP:0000347", "HP:0003974", @@ -1128,10 +1756,10 @@ def autocomplete(): "HP:0000089", ], "has_phenotype_label": [ - "Chromosome breakage", "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", "Microtia", + "Chromosome breakage", + "Upslanted palpebral fissure", "Short neck", "Absent thumb", "Hypoplastic sacrum", @@ -1141,8 +1769,8 @@ def autocomplete(): "Webbed neck", "Cafe-au-lait spot", "Anal atresia", - "Hypertelorism", "Growth delay", + "Hypertelorism", "Bilateral talipes equinovarus", "Micrognathia", "Absent radius", @@ -1166,1050 +1794,1786 @@ def autocomplete(): "Renal hypoplasia", ], "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0087355", + "UPHENO:0081210", + "UPHENO:0087123", + "HP:0005528", + "UBERON:0000479", + "HP:0002715", + "HP:0005561", "UPHENO:0085195", - "UPHENO:0002948", + "HP:0012145", + "UPHENO:0087355", "UPHENO:0087278", - "HP:0000422", + "UPHENO:0006147", + "UPHENO:0006161", "HP:0000431", + "UBERON:0008340", "UPHENO:0081800", "HP:0000568", + "HP:0100887", "HP:0008056", - "UPHENO:0075219", - "UPHENO:0069523", "UPHENO:0000552", - "UPHENO:0050372", - "HP:0012447", - "UPHENO:0050406", - "HP:0002715", - "HP:0002188", - "UPHENO:0062527", + "GO:0048709", "HP:0012448", - "UPHENO:0084007", + "UPHENO:0050372", + "GO:0048869", + "GO:0007399", + "GO:0032291", + "GO:0010001", + "GO:0022008", + "HP:0000122", + "UPHENO:0076779", + "UPHENO:0083952", + "UBERON:8450002", + "UPHENO:0026980", "UPHENO:0008593", - "HP:0000079", - "HP:0012210", - "HP:0010935", + "UBERON:0000916", + "UPHENO:0087427", + "GO:0030154", + "UBERON:0002113", + "UBERON:0011143", "HP:0012130", - "UPHENO:0084928", - "HP:0001871", + "CL:0000232", + "CL:0000763", + "GO:0014003", "HP:0001877", + "UPHENO:0085118", + "UBERON:0002390", "HP:0001903", + "UPHENO:0004459", + "HP:0020047", + "UPHENO:0087430", + "UPHENO:0082454", "UPHENO:0041458", + "UPHENO:0041080", + "UPHENO:0075219", + "HP:0005105", + "UBERON:0000004", "HP:0000366", - "HP:0000436", - "UPHENO:0088168", + "UBERON:0002268", "UPHENO:0082467", - "UPHENO:0002597", - "HP:0000054", - "HP:0003241", - "HP:0008736", - "UPHENO:0000553", + "UPHENO:0081585", + "UPHENO:0082356", + "UPHENO:0041203", + "HP:0000436", + "UBERON:0000989", + "UBERON:0001008", + "UPHENO:0081320", + "HP:0000032", + "HP:0001871", + "UBERON:0000079", + "UBERON:0008811", + "UBERON:0004053", + "UPHENO:0080209", "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "HP:5201015", + "HP:0008736", + "HP:0010935", + "UPHENO:0002907", + "HP:0003241", + "UPHENO:0087802", + "HP:0000054", + "HP:0010461", + "UPHENO:0050406", + "HP:0000811", + "UBERON:0003101", + "UPHENO:0002948", + "UPHENO:0087643", + "UBERON:0001716", + "UBERON:0002553", + "UBERON:0001709", + "UPHENO:0033635", + "UPHENO:0075655", + "HP:0000175", + "UBERON:0004089", + "UPHENO:0076786", + "UBERON:0000464", "HP:0000202", - "HP:0000174", - "UPHENO:0006147", - "UPHENO:0087585", - "UPHENO:0033572", + "NCBITaxon:6072", + "UBERON:0000063", + "UBERON:0000073", + "NCBITaxon:131567", + "NCBITaxon:1", + "UPHENO:0076720", + "NCBITaxon:33154", + "UPHENO:0020013", + "UBERON:0002028", + "UBERON:0002037", + "UBERON:0001895", + "UPHENO:0081601", + "UBERON:0004732", + "HP:0011283", + "NCBITaxon:2759", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", "UPHENO:0080089", - "HP:0001321", - "UPHENO:0068984", - "UPHENO:0087548", - "UPHENO:0033635", "HP:0002977", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0081099", - "HP:0011458", "HP:0011968", - "HP:0000811", - "HP:0025032", - "UPHENO:0063639", - "HP:0002589", "UPHENO:0063603", + "HP:0002589", "HP:0003221", - "HP:0000078", + "HP:0001263", + "UPHENO:0020950", + "UPHENO:0003053", + "UPHENO:0002642", + "UPHENO:0087547", + "HP:0000008", + "UBERON:0003134", + "UBERON:0000995", + "UPHENO:0005170", + "HP:0000130", + "UBERON:0000990", "UPHENO:0003055", - "HP:0010460", "HP:0000151", - "UPHENO:0002598", - "UPHENO:0087974", - "UPHENO:0020950", + "UBERON:0005156", + "UPHENO:0025875", + "HP:0010460", + "UBERON:0003100", "UPHENO:0009305", - "UPHENO:0087339", - "UPHENO:0026954", - "UPHENO:0026984", - "UPHENO:0025708", - "HP:0008678", - "UPHENO:0052178", - "HP:0012145", + "UBERON:0012128", + "GO:0009790", "UPHENO:0080393", - "UPHENO:0075902", - "UPHENO:0081436", - "UPHENO:0085144", - "HP:0000309", - "UPHENO:0050108", + "CL:0001035", + "UPHENO:0050034", "UPHENO:0005642", - "UPHENO:0080382", + "UPHENO:0005433", "UPHENO:0052778", - "HP:0000437", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", + "UPHENO:0002832", + "UPHENO:0041098", + "UBERON:0013515", + "GO:0032502", + "UPHENO:0068984", + "UPHENO:0050108", + "UBERON:0001423", + "UBERON:0003607", + "UBERON:0002405", + "UBERON:0003606", + "HP:0003974", "UPHENO:0076718", - "HP:0002973", - "UPHENO:0025211", - "HP:0012758", - "UPHENO:0009399", - "HP:0040072", "HP:0040070", - "UPHENO:0080187", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0020013", - "HP:0006503", "HP:0009825", + "HP:5201015", + "HP:0009822", + "HP:0000119", "UPHENO:0081511", - "UPHENO:0050034", + "UBERON:0000167", + "UPHENO:0086956", + "HP:0009823", + "UPHENO:0026023", + "UBERON:0003466", + "UBERON:0002471", + 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"UBERON:0002091", + "UBERON:0001440", + "UPHENO:0076723", + "UPHENO:0055730", + "UPHENO:0002905", + "UBERON:0003975", + "UPHENO:0080099", + "UPHENO:0008523", + "UBERON:0001062", + "UBERON:0005881", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0076727", + "UBERON:0010758", + "UBERON:0002193", + "UPHENO:0056237", + "UPHENO:0011498", + "UBERON:0004381", + "UBERON:0007272", + "UBERON:0002428", + "UPHENO:0054957", + "UBERON:0019221", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0080126", + "UPHENO:0085144", + "HP:0000238", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0084761", + "HP:0011297", + "UPHENO:0002708", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0056072", + "UBERON:0011249", + "UPHENO:0001001", + "HP:0002817", + "UBERON:0013765", + "UPHENO:0085068", + "UBERON:0004708", + "UBERON:0004120", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0003129", + "HP:0000309", + "UBERON:0004375", + "UPHENO:0076695", + "UPHENO:0075182", + "HP:0009122", + "HP:0008517", + "UBERON:0006314", + "UBERON:0005177", + "UPHENO:0081436", + "UPHENO:0081328", + "UBERON:0005173", + "HP:0005107", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0083951", + "UPHENO:0087374", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0081792", + "UPHENO:0049990", + "UPHENO:0020659", "HP:0012243", + "HP:0008518", + "HP:0008678", + "GO:0006996", + "UBERON:0005179", + "UBERON:0003828", + "UBERON:0003463", + "GO:0060255", + "UBERON:0006075", + "UPHENO:0076735", + "UBERON:0000463", + "UBERON:0004247", + "UBERON:0000117", + "UBERON:0001005", + "HP:0000464", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0005944", + "UPHENO:0003020", "HP:0005607", - "UPHENO:0087433", + "HP:0002575", + "HP:0000315", + "UBERON:0001004", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0005409", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0080662", + "UPHENO:0069523", "UPHENO:0002725", - "HP:0000050", - "UPHENO:0076735", - "UPHENO:0088047", - "HP:0012718", - "UPHENO:0002635", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026980", - "UPHENO:0056212", - "HP:0000130", + "HP:0011793", + "UBERON:0003126", + "UPHENO:0086700", "UPHENO:0020748", - "HP:0000347", - "HP:0025031", - "HP:0000377", - "UPHENO:0076803", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "HP:0009380", - "HP:0002086", - "UPHENO:0060026", - "HP:0007360", + "UPHENO:0025945", + "UBERON:0006048", + "UPHENO:0021304", + "HP:0001574", + "UBERON:0001558", + "HP:0012718", "UPHENO:0076766", - "UPHENO:0076702", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0081786", + "UBERON:0010913", + "UBERON:0001043", + "UBERON:0007811", + "HP:0012252", + "HP:0025031", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0021517", + "UPHENO:0081784", + "UPHENO:0000543", + "UPHENO:0075696", + "UBERON:0004908", + "UPHENO:0056212", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UBERON:0002616", + "UPHENO:0002964", + "UBERON:0001032", + "UPHENO:0026181", "HP:0012443", - "UPHENO:0006161", - "HP:0002118", - "UPHENO:0087430", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0088185", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "HP:0002813", + "GO:0071840", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UPHENO:0025211", + "UPHENO:0087548", + "UBERON:0000061", + "UBERON:0035639", + "GO:1901360", "UPHENO:0056333", - "HP:0001511", - "UPHENO:0000543", - "UPHENO:0081784", - "HP:0009823", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0011121", + "UBERON:0000481", "HP:0000957", "HP:0001034", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", - "HP:0002692", - "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0008523", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "UPHENO:0078606", + "HP:0006265", + "HP:0002023", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0087339", + "HP:0034915", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000466", + "HP:0011400", + "HP:0012372", + "HP:0000478", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0005656", + "HP:0001776", + "HP:0000925", + "UBERON:0008784", + "UBERON:0010709", + "UPHENO:0072195", + "HP:0002814", + "HP:0006496", "UPHENO:0050008", - "UPHENO:0025875", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739", + "UPHENO:0003070", + "UPHENO:0081575", + "HP:0011821", + "HP:0009118", ], "has_phenotype_closure_label": [ - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the immune system", + "decreased size of the kidney", + "bone marrow", + "bone cell", "abnormal immune system", - "abnormal bone marrow cell morphology", + "Abnormality of bone marrow cell morphology", + "tissue", + "Bone marrow hypocellularity", + "abnormal immune system morphology", + "snout", "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "abnormal snout morphology", + "increased width of nasal bridge", "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal myelination", - "delayed central nervous system myelination", + "Abnormality of globe size", + "Aplasia/Hypoplasia affecting the eye", + "delayed central nervous system myelination", + "abnormal biological_process in central nervous system", + "Abnormal myelination", + "central nervous system myelination", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal hematopoietic system morphology", + "system development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "cellular developmental process", + "nervous system development", + "glial cell differentiation", + "abnormal central nervous system myelination in independent continuant", + "absent kidney", "abnormal kidney morphology", "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "absent kidney", + "Abnormality of the kidney", + "excretory system", + "abnormal upper urinary tract", + "abdomen element", + "cavitated compound organ", + "absent anatomical entity in the renal system", "abnormal renal system", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "abnormal renal system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal bone marrow cell", - "Anemia", - "Abnormal myeloid cell morphology", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "abnormal external nose morphology", - "abnormal myelination", + "renal system", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormal myeloid cell morphology", + "hematopoietic system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "abnormal cell morphology", "abnormal erythrocyte morphology", - "Depressed nasal tip", - "abnormal nose", + "abnormal hematopoietic system", + "flat nose tip", "Abnormal nasal tip morphology", + "olfactory organ", + "abnormal size of eyeball of camera-type eye", + "nose tip", + "nose", "abnormal nose morphology", + "Abnormality of the nose", + "flattened anatomical entity in independent continuant", + "Abnormal external nose morphology", + "curvature anatomical entity", + "decreased size of the external male genitalia", + "Abnormal external genitalia", + "external male genitalia", + "male reproductive system", "Abnormality of male external genitalia", - "abnormal external male genitalia", - "abnormal male reproductive organ morphology", - "decreased size of the penis", - "abnormal male reproductive system", - "penis hypoplasia", - "Abnormality of globe size", + "Hypoplasia of penis", + "Abnormal renal morphology", + "abnormal external genitalia", + "abnormal penis", + "External genital hypoplasia", "Abnormal penis morphology", - "Abnormal external genitalia", - "Micropenis", "abnormal male reproductive system morphology", - "abnormal external male genitalia morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "External genital hypoplasia", - "Abnormal palate morphology", - "abnormal midface morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal incomplete closing of the secondary palate", "Craniofacial cleft", + "Abnormal oral cavity morphology", + "anatomical cavity", + "abnormal roof of mouth morphology", + "Orofacial cleft", "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Abnormal hindbrain morphology", - "Aplasia/Hypoplasia of the cerebellum", + "abnormal incomplete closing of the secondary palate", + "abnormal midface morphology", + "Eumetazoa", + "hindbrain", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "cerebellum hypoplasia", + "segmental subdivision of nervous system", + "regional part of brain", + "abnormal external male genitalia", "abnormal anatomical entity morphology in the brain", - "Abnormal cerebellum morphology", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "root", + "Abnormal midface morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "abnormal metencephalon morphology", "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "Wide nasal bridge", - "Abdominal symptom", - "alimentary part of gastrointestinal system atresia", + "Feeding difficulties", + "Esophageal atresia", + "esophagus atresia", + "Chromosomal breakage induced by crosslinking agents", "Neurodevelopmental abnormality", - "Neurodevelopmental delay", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Abnormality of the genital system", - "abnormal female reproductive organ morphology", + "abnormal female reproductive system", + "abnormal kidney", + "abnormal reproductive system", + "internal genitalia", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "Wide nasal bridge", "abnormal internal female genitalia morphology", - "Aplasia of the uterus", - "Abnormality of the genitourinary system", + "female organism", + "bone marrow cell", + "internal female genitalia", + "genitourinary system", + "abnormal uterus", + "aplasia or hypoplasia of uterus", + "reproductive structure", "Abnormal morphology of female internal genitalia", - "abnormal female reproductive system", - "Aplasia/hypoplasia of the uterus", - "absent anatomical entity in the reproductive system", - "abnormal female reproductive system morphology", - "absent uterus", - "absent external ear in the independent continuant", + "Aplasia of the uterus", + "female reproductive system", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "Abnormality of the uterus", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", "Anotia", - "decreased developmental process", + "absent anatomical entity in the head", + "absent external ear in the head", + "absent external ear", + "abnormal embryo development", + "Intrauterine growth retardation", + "abnormal secondary palate morphology", "abnormal developmental process", + "decreased developmental process", + "Hypoplastic male external genitalia", + "anatomical structure development", + "multicellular organism development", "decreased embryo development", - "aplasia or hypoplasia of cerebellum", + "abnormal genitourinary system", "changed developmental process rate", - "Abnormal upper limb bone morphology", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "abnormal long bone morphology", - "abnormal limb long bone morphology", + "changed embryo development rate", + "decreased qualitatively developmental process", + "arm bone", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", + "abnormal erythroid lineage cell morphology", "Abnormal morphology of the radius", + "limb long bone", "absent radius bone in the forelimb", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "Aplasia/hypoplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", "Aplasia/Hypoplasia of the radius", - "Absent radius", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", - "shape nose tip", - "anatomical entity hypoplasia in face", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "bone element hypoplasia in face", - "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal embryo development", - "abnormal mouth morphology", + "embryo development", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "Micrognathia", "abnormal jaw skeleton morphology", - "abnormal head bone morphology", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "dermal bone", + "jaw skeleton", + "facial skeleton", + "mandible", + "immune system", + "facial bone", + "Hypoplastic facial bones", + "abnormal mouth", + "abnormal hematopoietic cell morphology", + "primary subdivision of cranial skeletal system", + "primary subdivision of skull", + "cranial skeletal system", + "facial bone hypoplasia", + "Abnormality of the genital system", + "intramembranous bone", "abnormal facial skeleton morphology", - "abnormal genitourinary system", - "Abnormal foot morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "Growth delay", - "increased anatomical entity length in independent continuant", - "absent external ear", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "abnormal nasal bridge morphology", - "Hypertelorism", - "abnormal upper urinary tract", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormality of the eye", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal immune system morphology", + "abnormal nose", "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "abnormal digit morphology", + "Abnormal appendicular skeleton morphology", + "Cleft palate", + "behavior", + "abnormal manus morphology", + "pectoral appendage skeleton", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal arm", + "skeletal element", + "system", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "bone of dorsum", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "bone element", + "dorsum", + "cervical region", + "organ system subdivision", + "Abnormality of the anus", + "paired limb/fin skeleton", + "vertebral column", + "Abnormality of the eye", + "abnormal pes morphology", "decreased length of anatomical entity in independent continuant", - "abnormal neck morphology", - "Aplasia/Hypoplasia of the ear", - "abnormal forelimb morphology", "Abnormality of the musculoskeletal system", - "Cafe-au-lait spot", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of manual digit 1", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "cervical vertebra", + "membrane bone", + "abnormal cervical vertebra", + "dentary", + "appendage", "abnormal vertebral column", - "fused sacrum hypoplasia", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "skeletal system", + "Abnormality of the vertebral column", + "Macule", + "Opisthokonta", "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "decreased size of the anatomical entity", - "Abnormal midface morphology", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "aplasia or hypoplasia of ear", - "Microphthalmia", - "Abnormal neck morphology", - "abnormal skeletal system", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "Abnormality of the ear", - "changed embryo development rate", - "Intrauterine growth retardation", - "abnormal manual digit 1 morphology", - "abnormal fused sacrum morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "abnormal manual digit morphology in the independent continuant", - "decreased size of the kidney", - "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", + "Abnormal eyelid morphology", + "skeleton", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "Abnormality of limbs", + "paired limb/fin segment", + "orbital region", + "abnormal anatomical entity morphology in the manus", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "upper jaw region", "Abnormality of the ocular adnexa", - "Abnormality of mental function", - "abnormal chromatin organization", + "simple eye", + "cellular metabolic process", + "Atypical behavior", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal orbital region", + "ensheathment of neurons", + "regulation of cellular process", + "ocular adnexa", + "camera-type eye", + "abnormal face", + "acropodium region", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "Renal agenesis", + "abnormal respiratory system", + "secondary palate", + "organism", + "irregular bone", "Chromosome breakage", - "kidney hypoplasia", - "Finger aplasia", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "quality", - "abnormal nitrogen compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", - "phenotype", - "absent external ear in the head", - "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal chromatin organization", "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "subdivision of skeleton", + "endochondral bone", + "Abnormality of the ear", + "eyelid", + "decreased size of the penis", + "Abnormality of the lower limb", + "Growth abnormality", + "axial skeletal system", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormal anus morphology", + "Abnormality of the face", + "manual digit 1", + "autopodial extension", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "negative regulation of biological process", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "Abnormality of multiple cell lineages in the bone marrow", "abnormal programmed DNA elimination by chromosome breakage", - "abnormal snout morphology", - "abnormal face", - "abnormal metabolic process", + "specifically dependent continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "sensory system", + "abnormal nervous system", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", "Abnormal forearm morphology", - "decreased size of the mandible", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "Abnormal skeletal morphology", + "forelimb", + "material anatomical entity", + "abnormal metabolic process", + "Depressed nasal tip", + "Abnormality of mental function", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "abnormal eyelid morphology", + "manus", + "Abnormality of digestive system morphology", + "radius endochondral element", + "abnormal behavior", + "Abnormal cellular phenotype", + "roof of mouth", + "Abnormality of the orbital region", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "thoracic cavity element", + "Abnormal neck morphology", + "negative regulation of gene expression", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "posterior region of body", + "chromatin organization", + "organ part", + "decreased size of the external ear", + "Anemia", + "radius bone", + "Abnormality of the hand", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal tracheobronchial morphology", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "entity", + "Hyperactivity", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "craniocervical region", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "response to stimulus", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "female reproductive organ", + "long bone", + "negative regulation of biosynthetic process", + "material entity", + "pelvic region element", + "abnormal ocular adnexa", + "abnormal location of ear", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", "abnormal anatomical entity", - "Abnormality of the outer ear", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", "continuant", - "abnormal craniocervical region morphology", - "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", - "abnormal integument", - "Morphological central nervous system abnormality", - "abnormal behavior process", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "abnormal neck", - "Atypical behavior", + "organic cyclic compound metabolic process", + "segment of autopod", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal DNA metabolic process", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "behavior process", + "decreased size of the mandible", "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormality of the head", - "abnormal anus", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal organelle organization", - "Abnormal CNS myelination", - "abnormal development of anatomical entity", - "abnormal digit", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal cellular process", - "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Slanting of the palpebral fissure", - "increased width of nasal bridge", - "Abnormal tracheobronchial morphology", - "abnormal biological_process", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "aplasia or hypoplasia of ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "Finger aplasia", + "Reduced impulse control", + "abnormal location of external ear", + "forelimb zeugopod bone", + "nervous system", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "ear", + "anatomical entity hypoplasia in face", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "pelvic region of trunk", + "macromolecule metabolic process", + "dermal skeletal element", + "subdivision of organism along main body axis", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "Microtia", + "Renal hypoplasia", + "bone of lower jaw", + "mandible hypoplasia", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", "aplasia or hypoplasia of external ear", - "abnormal cell", - "abnormal limb morphology", - "abnormal reproductive system", + "pes", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "non-connected functional system", + "abnormal size of anatomical entity", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "Attention deficit hyperactivity disorder", + "abnormal leg", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", + "Eukaryota", + "negative regulation of cellular metabolic process", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "absent digit", + "abnormal head bone morphology", + "dorsal part of neck", + "Abnormal pinna morphology", + "external ear", + "Aplasia/Hypoplasia of the ear", + "Abnormality of the skeletal system", + "trachea", + "curvature anatomical entity in independent continuant", + "abnormal limb", + "negative regulation of cellular process", "Abnormality of head or neck", - "entity", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "abnormal behavior", - "Abnormality of digestive system morphology", - "abnormal limb", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "delayed biological_process in central nervous system", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Abnormality of the orbital region", - "absent anatomical entity in the multicellular organism", - "decreased size of the eyeball of camera-type eye", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "flat anatomical entity", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "regulation of biological process", + "lateral structure", "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "abnormal cervical vertebra", + "decreased qualitatively biological_process", + "anatomical entity", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "abnormal cellular process", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "anterior region of body", + "aplastic anatomical entity", + "main body axis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "abnormal opening of the anatomical entity", + "dorsal region element", + "abnormal primary metabolic process", + "body proper", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "decreased size of the anatomical entity in the independent continuant", + "protein-DNA complex organization", + "vestibulo-auditory system", + "axon ensheathment in central nervous system", + "eye", + "compound organ", + "cellular process", + "Abnormal digit morphology", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal face morphology", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "cellular component organization", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "neurogenesis", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "lower jaw region", + "abnormal digit", + "thoracic segment of trunk", + "Abnormality of metabolism/homeostasis", + "visual system", "aplastic manual digit 1", + "Abnormal sacrum morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "anatomical conduit", + "abnormal limb morphology", + "paired limb/fin", + "mesoderm-derived structure", + "developmental process", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "autopod region", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of the thumb", + "cell differentiation", + "appendicular skeletal system", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "arm", + "Abnormal erythrocyte morphology", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "abnormal respiratory system", - "Abnormality of limb bone", - "flat anatomical entity in independent continuant", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "forelimb skeleton", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", - "abnormal arm", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "dermatocranium", + "pectoral complex", + "digit", + "abnormal female reproductive system morphology", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "multi-limb segment region", + "agenesis of anatomical entity", "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "external soft tissue zone", + "digit plus metapodial segment", + "abnormally increased number of brain ventricle in the independent continuant", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "skeleton of lower jaw", + "abnormal digit morphology", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "Delayed myelination", + "Abnormality of skin pigmentation", + "shape nose tip", + "Abnormality of globe location", + "limb bone", + "cell development", + "skeleton of manus", + "Hypertelorism", "bone element hypoplasia in independent continuant", - "Delayed CNS myelination", - "Hyperactivity", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal trachea morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal mouth", - "Abnormal ear morphology", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormal manus morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "abnormal limb bone morphology", - "Cerebellar hypoplasia", - "Abnormal metencephalon morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Hypoplastic sacrum", + "abnormal fused sacrum morphology", "Aplasia/Hypoplasia of the sacrum", - "Abnormal sacrum morphology", - "Abnormality of the neck", - "abnormal vertebral column morphology", - "Abnormal external nose morphology", + "bony pelvis", + "Delayed CNS myelination", + "fused sacrum", + "fused sacrum hypoplasia", + "skull", + "limb skeleton subdivision", "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", + "reproductive system", + "sacral region", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "Short attention span", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "pelvic appendage", + "respiratory tube", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", + "abnormal pigmentation in independent continuant", + "abnormal respiratory tube morphology", + "subdivision of tube", + "Abnormality of the cervical spine", + "abnormal digestive system", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "digestive tract", + "oral cavity", + "Morphological abnormality of the gastrointestinal tract", + "Neoplasm", "Tracheoesophageal fistula", - "abnormally increased number of anatomical entity", + "abnormal esophagus morphology", + "pectoral appendage", + "regulation of gene expression", + "respiratory system", + "programmed DNA elimination", + "obsolete cell", + "digestive system", + "penis", + "digestive system element", + "kidney", + "abnormal biological_process", + "Growth delay", + "respiratory airway", + "tube", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormal tracheal morphology", + "thoracic segment organ", + "vertebral element", + "viscus", + "abnormal organelle organization", "abnormal respiratory system morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", "Abnormal esophagus morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "Abnormal tracheal morphology", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", + "Abnormality of the respiratory system", "abnormal tracheobronchial tree morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Delayed myelination", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "myelination", "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal ocular adnexa", - "abnormal location of ear", - "Decreased external ear position", + "abnormally increased number of anatomical entity", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "abnormal brain morphology", + "organism substance", + "ventricular system of central nervous system", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "abnormal anus morphology", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormal cell morphology", + "lower limb segment", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormality of limb bone", + "central nervous system", + "anatomical point", + "ventricle of nervous system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "abnormal nervous system morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", "abnormal anatomical entity topology in independent continuant", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Abnormal location of ears", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Abnormality of the gastrointestinal tract", - "Webbed neck", "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", + "abnormal location of anatomical entity", + "Decreased external ear position", + "external nose", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal external ear", + "increased biological_process", + "increased size of the anatomical entity in independent continuant", "Abnormality of the integument", + "Neurodevelopmental delay", "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", + "integumental system", + "integument", + "abnormal anatomical entity morphology", + "increased pigmentation", "changed biological_process rate in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "reproductive organ", + "abnormal skull morphology", + "abnormal palpebral fissure", "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "Abnormality of the anus", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "delayed growth", + "abnormal location of eyeball of camera-type eye", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Low-set ears", + "Abnormal jaw morphology", + "abnormal head", + "jaw region", + "cell", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone", ], "has_phenotype_count": 36, "highlight": None, @@ -2312,936 +3676,1572 @@ def autocomplete(): "Horseshoe kidney", ], "has_phenotype_closure": [ + "UPHENO:0041226", + "HP:0000085", "UPHENO:0082129", - "UPHENO:0041821", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0082444", "UPHENO:0049964", "HP:0003254", - "UPHENO:0049671", + "HP:0003213", "UPHENO:0051124", - "UPHENO:0049952", - "HP:0003214", - "HP:0000365", - "UPHENO:0052231", + "GO:0006950", + "GO:0051716", + "GO:0051319", + "GO:0007049", + "GO:0022402", + "UBERON:0002105", + "GO:0007605", + "GO:0050954", + "HP:0000364", + "UPHENO:0050625", "HP:0000598", "UPHENO:0005518", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0012373", + "UPHENO:0041075", + "GO:0007600", + "UPHENO:0052970", + "HP:0000486", + "NBO:0000444", + "UBERON:0006800", "HP:0000549", + "UBERON:0000466", + "BFO:0000141", + "UPHENO:0049622", + "GO:0007610", + "HP:0000496", + "UPHENO:0080585", + "UBERON:0010222", + "NBO:0000338", + "HP:0011018", + "UBERON:0000015", + "GO:0050896", + "HP:0000708", "UPHENO:0079828", "UPHENO:0049586", "UPHENO:0000543", - "UPHENO:0080352", "UPHENO:0081424", - "UPHENO:0052970", - "UPHENO:0075787", + "UPHENO:0081423", + "UPHENO:0075159", "UPHENO:0080351", - "HP:0004742", + 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"UPHENO:0087427", - "UPHENO:0002332", - "UPHENO:0086176", - "UPHENO:0004523", - "HP:0012759", - "HP:0000708", - "UPHENO:0082875", - "UPHENO:0002433", - "HP:0000032", - "UPHENO:0022529", - "UPHENO:0076702", + "UPHENO:0050108", + "UBERON:0034923", + "UBERON:0004054", + "BFO:0000003", + "UBERON:5002389", + "UPHENO:0086049", + "PR:000050567", + "UPHENO:0085405", + "CL:0002242", + "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", + "HP:0000086", + "CL:0000766", + "UPHENO:0088318", + "HP:0000135", + "UPHENO:0085194", + "UBERON:0003607", + "UPHENO:0004523", + "HP:0009115", + "GO:0031049", + "UBERON:0002075", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087123", + "UPHENO:0002219", + "UPHENO:0006910", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0035025", + "UBERON:0000479", + "UBERON:0000465", + "CL:0000988", + "HP:0012372", + "HP:0002060", + "UBERON:0002091", + "UPHENO:0020584", + "UBERON:0004121", + "HP:0000924", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UBERON:0002544", + "UPHENO:0002948", + "UPHENO:0076805", + "UPHENO:0085189", + "UBERON:0012475", + "UPHENO:0002880", + "HP:0001518", + "HP:0100547", + "HP:0032309", + "UPHENO:0049587", + "BFO:0000015", + "GO:0032504", + "HP:0000815", + "HP:0011927", + "GO:0050877", + "HP:0012638", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0015025", + "HP:0012758", + "HP:0002011", + "UBERON:0007811", + "UPHENO:0088338", + "UPHENO:0050101", "UPHENO:0075195", "HP:0009121", - "HP:0002977", - "HP:0006501", + "UBERON:0000033", + "UBERON:0001017", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0054970", + "UBERON:5102544", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0002090", + "GO:0048232", + "UPHENO:0075220", + "UBERON:0001893", + "UBERON:0001890", + "UPHENO:0080200", "UPHENO:0087907", - "UPHENO:0050625", - "HP:0010461", - "HP:0000929", - "HP:0000240", - "HP:0000078", - "HP:0012145", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0026980", - "UPHENO:0075997", - "UPHENO:0020888", - "UPHENO:0086002", + "HP:0006501", + "HP:0000234", + "UPHENO:0085873", + "NCBITaxon:33154", "HP:0000252", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080126", - "UPHENO:0076799", - "HP:0001626", - "UPHENO:0085356", - "UPHENO:0076810", - "HP:0030680", - "UPHENO:0086173", - "UPHENO:0076776", - "UPHENO:0002219", - "HP:0009823", - "HP:0000957", - "HP:0001873", - "HP:0001034", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0001876", - "HP:0002011", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0000489", + "UBERON:0010323", "UPHENO:0074575", - "HP:0012758", - "UPHENO:0009399", - "UPHENO:0025211", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0001574", - "UPHENO:0080377", - "UPHENO:0054970", - "UPHENO:0085875", - "HP:0011355", + "UPHENO:0046707", "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0082682", - "UPHENO:0003811", - "UPHENO:0080221", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "CL:0000408", + "GO:0007283", + "BFO:0000001", "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", + "UBERON:0000948", + "UBERON:0000915", + "UBERON:0005181", + "UPHENO:0080362", + "UBERON:0001009", + "NCBITaxon:6072", + "UPHENO:0076776", + "HP:0030680", + "HP:0001626", + "UPHENO:0005016", + "UBERON:0007100", + "GO:0050794", + "UPHENO:0085875", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0001574", + "UPHENO:0082682", + "UPHENO:0074589", + "UPHENO:0080221", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0009823", + "HP:0001034", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UBERON:0002417", + "UPHENO:0074572", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0004710", + "UPHENO:0088162", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", "HP:0008373", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", "UPHENO:0066972", - "UPHENO:0050113", + "HP:0000078", + "UPHENO:0082875", + "HP:0011355", "HP:0000104", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0087339", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", + "CL:0000232", + "UBERON:0004375", "HP:0011873", - "UPHENO:0086049", + "UBERON:0001474", + "CL:0000329", + "UPHENO:0087355", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "UBERON:0011584", + "UPHENO:0084987", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", "UPHENO:0085302", - "UPHENO:0049985", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0078729", - "UPHENO:0026128", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "CL:0000151", + "UPHENO:0081755", + "UBERON:0002471", + "HP:0008669", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0002386", + "UBERON:0015021", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0052231", + "HP:0000028", + "HP:0000811", + "UPHENO:0052778", + "GO:0003006", + "HP:0001000", + "UPHENO:0080382", + "GO:0000003", + "UBERON:0011216", + "UBERON:0004175", + "HP:0004322", + "UPHENO:0087973", + "HP:0000035", + "UPHENO:0078452", + "HP:0005918", + "HP:0012243", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UBERON:0004176", + "UPHENO:0076799", "HP:0000119", - "HP:0000152", - "UPHENO:0005016", + "UPHENO:0081511", + "UPHENO:0086201", + "UPHENO:0086198", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "UPHENO:0005597", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000473", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "UPHENO:0085356", + "GO:0019953", + "HP:0001871", + "UBERON:0000079", + "CL:0000586", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0053298", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "HP:0001249", + "UBERON:0001968", + "GO:0048609", + "HP:0003953", + "CL:0000413", + "CL:0000039", + "UPHENO:0079872", + "UPHENO:0009341", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0010741", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0086956", + "UBERON:0002104", + "HP:0006503", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0040070", + "UBERON:0000955", + "UBERON:0010703", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", "UPHENO:0005651", + "UPHENO:0076718", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0001423", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411", ], "has_phenotype_closure_label": [ + "U-shaped anatomical entity", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", + "shape anatomical entity", + "Horseshoe kidney", "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle phase", + "cell cycle process", + "decreased sensory perception of sound", + "abnormal sensory perception", "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", + "abnormal ear", + "ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "immaterial anatomical entity", + "Strabismus", + "body part movement", + "anatomical line", + "behavior process", + "behavior", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", + "abnormal eye movement", + "eye movement", + "response to stimulus", + "abnormal response to stimulus", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", "delayed biological_process", - "Growth delay", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Abnormality of body height", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", + "Hematological neoplasm", + "vasculature", + "abnormality of cardiovascular system physiology", "Bruising susceptibility", - "abnormal blood circulation", "Subcutaneous hemorrhage", + "Abnormal bleeding", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", + "Abnormality of blood circulation", + "vascular system", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "phalanx", + "digitopodium bone", + "skeleton of manual acropodium", + "acropodial skeleton", "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", + "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", + "manual digit bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal phalanx morphology", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", - "Neurodevelopmental delay", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cellular process", + "abnormal growth", + "decreased anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "decreased height of the anatomical entity", + "visual system", + "abnormal size of eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of the eye", + "orbital region", + "decreased size of the eyeball of camera-type eye", "Abnormality of the face", + "Microphthalmia", + "sense organ", + "eyeball of camera-type eye", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "simple eye", + "abnormal orbital region", "abnormal face morphology", - "U-shaped anatomical entity", "Abnormal eye morphology", - "Abnormality of the orbital region", + "camera-type eye", + "sensory system", "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "Abnormal upper limb bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", - "absent forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "Abnormality of the cell cycle", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "Absent radius", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", + "enucleated reticulocyte", + "abnormally decreased number of reticulocyte", + "Reticulocytopenia", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "axial skeleton plus cranial skeleton", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormality of anatomical entity physiology", + "skeleton of manus", + "abnormal manus morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", + "autopodial skeleton", + "paired limb/fin skeleton", + "abnormal digit morphology", + "absent anatomical entity", + "system", + "aplasia or hypoplasia of manual digit 1", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "agenesis of anatomical entity", + "multi-limb segment region", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "manual digit plus metapodial segment", + "digit", + "Hyperpigmentation of the skin", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "aplastic anatomical entity", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "genitourinary system", "decreased qualitatively reproductive process", "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", + "occurrent", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "entity", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "abnormal skeletal system morphology", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "appendicular skeletal system", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", + "decreased size of the anatomical entity in the pectoral complex", + "face", "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", + "skeleton", + "male gamete generation", + "Cognitive impairment", + "abnormal male reproductive system", + "paired limb/fin", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "abnormal limb morphology", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", "Abnormality of limb bone morphology", "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal appendicular skeleton morphology", + "cardiovascular system", "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "acropodium region", + "Intellectual disability", + "bone marrow", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "cell cycle", + "pectoral complex", + "trunk region element", + "Anemic pallor", + "cellular metabolic process", + "Abnormality of neutrophils", + "abnormal central nervous system morphology", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "Macule", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", + "sexual reproduction", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "Short thumb", + "Abnormality of the kidney", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormal cerebral morphology", + "abnormal blood circulation", + "arm bone", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal hematopoietic system", + "Renal agenesis", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", + "bone cell", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "thoracic cavity element", "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormality of ear physiology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", "abnormal arm", + "Atypical behavior", "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "abnormal multicellular organismal reproductive process", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "abnormal renal system", + "phenotype", + "Abnormal cell morphology", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", + "abnormally decreased number of hematopoietic cell", "phenotype by ontology source", - "Abnormality of the male genitalia", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", - "All", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", + "quality", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", "abnormal phenotype by ontology source", + "absent manual digit", "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Abnormal testis morphology", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", + "subdivision of trunk", + "anatomical system", + "material anatomical entity", + "Hypergonadotropic hypogonadism", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", "continuant", - "Azoospermia", - "Abnormality of brain morphology", - "Abnormal forearm morphology", + "abnormal neutrophil", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "abnormal testis morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "abnormal nervous system", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "skeletal element", + "zeugopod", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "regional part of nervous system", + "abdominal segment element", + "abnormal reproductive system morphology", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "biological_process", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "abnormal head morphology", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "abnormal gamete generation", + "leukocyte", "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology in the brain", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "abnormality of nervous system physiology", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "aplastic manual digit 1", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "limb endochondral element", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "abnormally decreased number of granulocyte", + "Abnormal cellular phenotype", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", "abnormal limb bone", "Abnormal nervous system morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", - "Abnormality of skin pigmentation", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "skeleton of manual digitopodium", + "primary circulatory organ", + "manual digit 1 plus metapodial segment", + "abdomen", + "viscus", + "abnormal hematopoietic cell morphology", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Absent forearm bone", + "Leukemia", "abnormal cell morphology", "abnormal nervous system morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", + "organism", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "Abnormal granulocyte count", + "eye", + "compound organ", + "limb long bone", + "zeugopodial skeleton", + "Abnormal granulocyte morphology", + "neutrophil", + "manual digit 1 phalanx", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "multicellular organismal reproductive process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "decreased length of manual digit", + "abnormal craniocervical region morphology", + "immaterial entity", "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "Abnormality of head or neck", "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of the head", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", + "abnormal reproductive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Decreased head circumference", + "abnormal telencephalon morphology", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "circulatory organ", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "abnormal long bone morphology", "abnormal heart morphology", - "delayed growth", + "aplasia or hypoplasia of radius bone", + "Abnormal reproductive system morphology", "abnormal cardiovascular system", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "Abnormality of skin morphology", "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", + "Neurodevelopmental delay", "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", + "Abnormality of bone marrow cell morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Localized skin lesion", - "abnormal platelet", + "Neutropenia", + "reproductive structure", + "abnormal integument", + "Growth delay", + "kidney", + "abnormal biological_process", "Cafe-au-lait spot", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", + "Abnormal forearm bone morphology", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "Pancytopenia", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", + "Abnormal heart morphology", "abnormality of reproductive system physiology", - "Hypogonadism", + "limb segment", + "absent sperm", + "Abnormality of reproductive system physiology", + "gamete", + "Puberty and gonadal disorders", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal bone marrow cell morphology", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", + "absent kidney", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", "Anemia", + "abnormal shape of continuant", + "trunk", "abnormal bone marrow cell", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Generalized abnormality of skin", + "oxygen accumulating cell", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "abnormal male reproductive system morphology", + "manual digit", + "abnormal multicellular organismal reproductive process", + "abnormal granulocyte morphology", + "Azoospermia", + "Abnormal testis morphology", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "absent gamete", + "organism substance", + "interphase", + "semen", + "Abnormality of male external genitalia", + "anatomical entity", + "decreased qualitatively biological_process", + "platelet", + "absent sperm in the independent continuant", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "developmental process involved in reproduction", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "germ cell", + "external male genitalia", + "testis", + "Abnormal external genitalia", + "abnormal gamete", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "male organism", + "male germ cell", + "abnormal testis morphology", + "forelimb zeugopod", + "internal genitalia", "abnormal internal genitalia", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "sensory perception", + "abnormal developmental process", + "haploid cell", + "sperm", + "Absent radius", + "abnormal radius bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "aplastic forelimb zeugopod bone", + "absent forelimb zeugopod bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "eukaryotic cell", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb zeugopod skeleton", + "abnormal size of skull", + "forelimb long bone", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "skeleton of digitopodium", + "Short digit", + "Short finger", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "reticulocyte", ], "has_phenotype_count": 32, "highlight": None, @@ -3325,6 +5325,7 @@ def autocomplete(): "HP:0000582", "HP:0010469", "HP:0000377", + "HP:0002863", "HP:0002575", "HP:0000483", "HP:0000238", @@ -3345,14 +5346,13 @@ def autocomplete(): "HP:0002650", "HP:0000252", "HP:0001882", - "HP:0002863", + "HP:0001510", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", @@ -3433,6 +5433,7 @@ def autocomplete(): "Upslanted palpebral fissure", "Absent testis", "Abnormal pinna morphology", + "Myelodysplasia", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", @@ -3453,14 +5454,13 @@ def autocomplete(): "Scoliosis", "Microcephaly", "Leukopenia", - "Myelodysplasia", + "Growth delay", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", @@ -3538,3483 +5538,5793 @@ def autocomplete(): "Abnormality of skin pigmentation", ], "has_phenotype_closure": [ - "HP:0001053", - "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0042775", - "UPHENO:0077885", - "UPHENO:0086173", + "HP:0001010", + "UPHENO:0085344", + "CL:0000233", + "CL:0000457", + "UPHENO:0085189", "UPHENO:0086049", - "UPHENO:0085070", + "CL:0000458", + "HP:0001873", "UPHENO:0084987", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0001939", + "UPHENO:0086173", + "HP:0011875", + "UPHENO:0085070", "HP:0003220", + "GO:0008152", + "HP:0001939", + "HP:0000002", + "UPHENO:0075159", "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085118", - "HP:0005522", - "HP:0020047", + "CL:0000329", + "UPHENO:0088170", + "UPHENO:0084928", + "CL:0000232", + "GO:0048872", + "HP:0001877", + "HP:0010972", "UPHENO:0088162", + "GO:0030218", "HP:0025461", - "HP:0001877", - "UPHENO:0085068", - "UPHENO:0087510", + "CL:0000764", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "GO:0042592", + "GO:0002376", + "GO:0009987", + "HP:0020047", + "UBERON:0015001", + "HP:0002818", + "UPHENO:0080187", + "UPHENO:0075198", "HP:0012745", - "UPHENO:0046753", - "HP:0010978", - "HP:0032101", - "UPHENO:0053580", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UBERON:0036295", + "UBERON:0006555", "UPHENO:0002806", "HP:0025633", + "UBERON:0000056", + "HP:0000083", + "UPHENO:0002442", "HP:0012211", - "UPHENO:0086128", "UPHENO:0002411", - "HP:0008373", + "UPHENO:0086132", + "HP:0000135", "HP:5201015", - "HP:0000202", - "HP:0000175", - "UPHENO:0033635", + "UPHENO:0081423", "UPHENO:0034110", - "HP:0000218", - "UPHENO:0001208", + "UPHENO:0063513", "HP:0000268", - "UPHENO:0075148", - "HP:0000069", - "UPHENO:0002442", - "UPHENO:0087307", + "UPHENO:0001208", + "UBERON:0013766", + "UBERON:1000021", + "UPHENO:0072402", "UPHENO:0087928", + "UBERON:0001084", "UPHENO:0087058", - "HP:0000286", + "HP:0000324", "UPHENO:0084734", - "UPHENO:0084729", - "UPHENO:0041151", + "HP:0001999", + "UPHENO:0076704", + "HP:0001263", + "UPHENO:0005982", "UPHENO:0041083", - "UPHENO:0066972", + "UPHENO:0041084", + "UPHENO:0069249", + "UPHENO:0081141", + "UBERON:0004768", "UPHENO:0083646", - "HP:0034261", - "HP:0002692", - "HP:0009118", - "HP:0011821", + "UPHENO:0081314", + "CL:0000081", + "UBERON:0012360", + "UBERON:0001708", + "UBERON:0003278", + "UBERON:0011156", + "UBERON:0001684", + "HP:0000347", + 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+ "UBERON:0008202", + "UPHENO:0082835", + "UPHENO:0080369", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", "HP:0009179", - "UPHENO:0076704", - "HP:0004207", - "HP:0040019", - ], - "has_phenotype_closure_label": [ - "Hypopigmented skin patches", - "Hypopigmentation of the skin", - "decreased pigmentation in skin of body", - "decreased qualitatively pigmentation", - "decreased pigmentation in multicellular organism", - "abnormal blood cell", - "abnormal blood cell morphology", + "HP:0011446", + "HP:0030084", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0016491", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", + "UPHENO:0076736", + "UBERON:0019221", + "UBERON:5003625", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "HP:0200007", + "HP:0009821", + "UPHENO:0081790", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0012274", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UPHENO:0012541", + "UPHENO:0087974", + "UBERON:0004770", + "UBERON:0001271", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "UPHENO:0060026", + "HP:0001367", + "UPHENO:0002700", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0087892", + "UBERON:0010425", + "UBERON:0007823", + "UBERON:0001464", + "UPHENO:0087602", + "UBERON:0000982", + "UBERON:0005913", + "HP:0002644", + "UBERON:0003828", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0003463", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:5002389", + "UPHENO:0087558", + "UBERON:0000473", + "UPHENO:0020967", + "GO:0002009", + "HP:0045005", + "HP:0000271", + "UBERON:0005893", + "UBERON:0002544", + "UPHENO:0087585", + "UBERON:0000060", + "UPHENO:0076695", + "HP:0003468", + "UPHENO:0076810", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0081436", + "UPHENO:0087858", + "UBERON:0004375", + "GO:0009792", + "UBERON:5101463", + "GO:0007399", + "GO:0021915", + "UBERON:0005897", + "UBERON:0005174", + "GO:0048729", + "GO:0009888", + "UBERON:0001558", + "GO:0048731", + "UPHENO:0075148", + "UBERON:0004249", + "GO:0035295", + "UBERON:0004908", + "UBERON:0006598", + "UBERON:0002240", + "HP:0002143", + "HP:0000119", + "GO:0043009", + "GO:0014020", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "UPHENO:0084729", + "UBERON:0016880", + "GO:0001503", + "UBERON:0002412", + "UPHENO:0088123", + "HP:0007874", + "UPHENO:0002992", + "HP:0001710", + "UPHENO:0087363", + "HP:0000364", + "GO:0009790", + "UBERON:0002050", + "UBERON:0000011", + "UPHENO:0087121", + "HP:0002251", + "UPHENO:0002941", + "UBERON:0013768", + "UPHENO:0084771", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "HP:0012331", + "HP:0001000", + "UBERON:0012430", + "UPHENO:0021045", + "UPHENO:0020258", + "UBERON:0002005", + "HP:0410015", + "UBERON:0002410", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "UPHENO:0056072", + "HP:0001549", + "UPHENO:0019477", + "UBERON:0005401", + "UBERON:0011300", + "UPHENO:0075655", + "UBERON:0011164", + "UBERON:0003457", + "UPHENO:0087530", + ], + "has_phenotype_closure_label": [ + "decreased biological_process in skin of body", + "decreased qualitatively pigmentation in independent continuant", + "decreased biological_process in independent continuant", + "decreased biological_process in multicellular organism", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "anucleate cell", + "secretory cell", + "abnormal platelet", + "abnormally decreased number of myeloid cell", + "abnormally decreased number of platelet", + "abnormal blood cell", "Thrombocytopenia", "Abnormal platelet count", - "abnormal platelet morphology", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Abnormal cellular physiology", + "Abnormality of chromosome stability", + "obsolete cell", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", "Abnormality of body height", - "Abnormal cell morphology", - "Sideroblastic anemia", + "oxygen accumulating cell", + "erythrocyte differentiation", "abnormal myeloid cell morphology", + "Anemia of inadequate production", + "Sideroblastic anemia", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", "Abnormal myeloid cell morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte", + "myeloid cell", + "blood cell", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "cellular developmental process", "abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", + "myeloid cell differentiation", + "hemopoiesis", + "homeostatic process", + "immune system process", + "cellular process", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "Abnormal size of the palpebral fissures", "decreased length of palpebral fissure", + "abnormality of immune system physiology", "Abnormality of immune system physiology", - "Unusual infection", - "Recurrent urinary tract infections", + "Cryptorchidism", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised testis", "Abnormal ureter morphology", - "abnormal ureter", - "abnormality of renal system physiology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", - "Puberty and gonadal disorders", + "abnormal ureter morphology", + "Abnormality of the ureter", + "ureter", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", "abnormally decreased functionality of the gonad", - "Orofacial cleft", - "abnormality of anatomical entity height", + "Craniofacial cleft", + "Cleft palate", "High palate", "increased height of anatomical entity in independent continuant", - "abnormal size of head", + "increased height of the anatomical entity", "increased size of the head", - "Dolichocephaly", - "abnormal skin of head morphology", + "Increased head circumference", + "skin of face", + "upper eyelid", + "head or neck skin", + "Epicanthus", "abnormal skin of face morphology", - "abnormal forehead morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", + "skin of head", + "increased length of the epicanthal fold", + "zone of skin", + "abnormal asymmetry of anatomical entity", + "sloped anatomical entity", + "abnormal shape of forehead", + "abnormal mandible morphology", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "facial skeleton", + "mandible", + "facial bone", "decreased size of the mandible", - "anatomical entity hypoplasia in face", + "Hypoplastic facial bones", "facial bone hypoplasia", - "mandible hypoplasia", - "abnormally localised anatomical entity", - "Micrognathia", + "bone of lower jaw", "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "aplasia or hypoplasia of skull", - "Facial asymmetry", - "abnormal sensory perception of sound", + "Abnormal mandible morphology", + "anatomical entity hypoplasia in face", + "lower jaw region", + "bone element hypoplasia in face", + "mandible hypoplasia", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", + "Hearing abnormality", + "decreased qualitatively sensory perception of sound", + "sloped forehead", + "sensory perception of mechanical stimulus", + "abnormal sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "Strabismus", + "Abnormal conjugate eye movement", + "abnormal sensory perception", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", "abnormal size of eyeball of camera-type eye", - "abnormal vestibulo-ocular reflex", - "abnormal internal ear", + "Abnormality of globe size", + "abnormal physiologic nystagmus", + "cranial nerve related reflex", "abnormality of ear physiology", - "Cryptorchidism", - "Nystagmus", + "Abnormal vestibulo-ocular reflex", + "Abnormality of eye movement", + "abnormal eye movement", + "abnormal vestibulo-ocular reflex", + "eye movement", "Abnormal vestibular function", - "Abnormality of the uterus", - "abnormal uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "bicornuate anatomical entity", "abnormal female reproductive system", "shape uterus", - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", + "oviduct", + "abnormal internal female genitalia morphology", + "female organism", + "Abnormality of the female genitalia", + "internal female genitalia", + "abnormal uterus", + "Abnormality of the uterus", + "uterus", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manus bone", + "skeleton of manual acropodium", + "abnormal manual digit 1 morphology", + "abnormal visual perception", "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", + "Triphalangeal thumb", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1", + "abnormal anatomical entity morphology in the skeleton of manus", + "Bicornuate uterus", + "abnormal behavior", "Hyperreflexia", + "abnormal response to external stimulus", + "Abnormality of movement", + "body part movement", "increased qualitatively response to stimulus", - "increased reflex", - "abnormal musculoskeletal movement", - "abnormal behavior", - "decreased embryo development", + "reflex", + "multicellular organismal movement", + "abnormal voluntary musculoskeletal movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "Recurrent urinary tract infections", + "involuntary movement behavior", "abnormal embryo development", - "Intrauterine growth retardation", - "shape forehead", + "decreased embryo development", + "herniated anatomical entity", + "Abnormality of the abdominal wall", + "abnormal umbilicus morphology", + "umbilicus", + "connective tissue", + "abnormal incomplete closing of the abdominal wall", "herniated abdominal wall", + "Hernia of the abdominal wall", "Abnormal umbilicus morphology", "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Hernia", + "interatrial septum", "abnormal interatrial septum morphology", - "Tetralogy of Fallot", - "Overriding aorta", - "Ventricular hypertrophy", + "abnormal cardiac atrium morphology", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "hypertrophic heart right ventricle", + "interventricular septum", + "metabolic process", "Abnormal cardiac septum morphology", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", - "abnormal interventricular septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "abnormally increased volume of anatomical entity", "abnormal cardiac septum morphology", - "Right ventricular hypertrophy", - "abnormal heart right ventricle morphology", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased functionality of the myocardium", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "cardiac septum", + "abnormally increased volume of anatomical entity", + "hypertrophic cardiac ventricle", + "Abnormal ventricular septum morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "heart layer", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "abnormal myocardium morphology", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal coronary vessel morphology", "abnormal incomplete closing of the ductus arteriosus", - "abnormal eye movement", - "abnormal artery morphology in the independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "cardiac valve", + "internal ear", + "heart left ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "Abnormal heart valve morphology", "abnormal cardiac valve morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", "abnormal aortic valve morphology", - "abnormal outflow part of left ventricle morphology", + "heart", + "abnormal semi-lunar valve morphology", + "abnormal heart morphology", "abnormal anatomical entity morphology in the heart", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "bone of jaw", + "aortic system", "Abnormal aortic morphology", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "flat longitudinal arch of pes", - "decreased qualitatively sensory perception of mechanical stimulus", + "aorta", + "longitudinal arch of pes", "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "flat anatomical entity in independent continuant", "flat anatomical entity", - "abnormal cerebral cortex morphology", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "abnormal vault of skull", - "abnormally protruding anatomical entity", - "abnormal shape of frontal cortex", - "Abnormal calvaria morphology", - "Abnormal cerebral cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", - "Abnormal shape of the frontal region", - "abnormal size of heart right ventricle", - "Meckel diverticulum", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "abnormal ganglion morphology", - "abnormal incomplete closing of the arch of centrum of vertebra", - "Neural tube defect", - "abnormal shape of forehead", - "abnormal tube formation", - "abnormal vertebral column morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal vertebral morphology", - "Hernia", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal opening of the anatomical entity", - "Abnormality of femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal size of palpebral fissure", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormal femur morphology", - "Lower extremity joint dislocation", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "anatomical entity dislocation", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Joint dislocation", - "abnormal synovial joint morphology", - "Abnormal joint morphology", - "Sloping forehead", - "decreased size of the ulna", - "decreased length of anatomical entity in independent continuant", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "decreased length of forelimb zeugopod bone", + "flattened anatomical entity in independent continuant", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "neurocranium", + "abnormal head bone morphology", + "abnormal forehead", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "lower urinary tract", + "Abnormality of globe location", + "pelvic region of trunk", + "myeloid cell homeostasis", + "glans penis", + "abnormal posterior nasal aperture morphology", + "abnormal internal naris", + "material anatomical entity", + "cranial skeletal system", + "posterior nasal aperture", "decreased size of the anatomical entity in the pectoral complex", - "Hypoplasia of the ulna", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", + "Abnormal skull morphology", + "anus", + "abnormal nose", + "abnormal skull morphology", + "anus atresia", + "reproductive organ", + "Short long bone", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Cataract", + "subdivision of digestive tract", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Weight loss", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal anus", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "neural tube formation", + "abnormal common carotid artery plus branches morphology", + "Abnormal anus morphology", + "abnormal anatomical entity mass density", + "outflow tract", + "germ cell", + "arterial system", + "Decreased bone element mass density", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "anterior uvea", + "vestibulo-auditory system", "Aplasia/Hypoplasia affecting the uvea", - "Abnormal skeletal morphology", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "changed biological_process rate in independent continuant", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal iris morphology", - "abnormal penis", - "Microcephaly", + "transparent eye structure", + "system", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal right ventricle morphology", + "Clinodactyly", + "Eumetazoa", + "Eukaryota", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "forelimb long bone", + "abnormal size of skull", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "skeleton of limb", + "postcranial axial skeletal system", + "Clubbing of toes", + "drooping eyelid", + "Dolichocephaly", + "common carotid artery plus branches", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "root", + "bone element", + "Ptosis", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "limb skeleton subdivision", + "Abnormality of the choanae", + "Abnormal cell morphology", + "Abnormal palate morphology", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", "Abnormality of the musculoskeletal system", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal voluntary movement behavior", + "Microcephaly", "Abnormal forearm bone morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal respiratory system", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "abnormal embryo morphology", - "Abnormal venous morphology", - "abnormal blood vessel morphology", - "abnormal vascular system morphology", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "limb segment", "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormality of brain morphology", + "absent sperm", + "Atrial septal defect", + "drooping anatomical entity", + "Abnormal uvea morphology", "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "shape cornea", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormal small intestine morphology", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", + "abnormal forelimb zeugopod morphology", + "Abnormal morphology of ulna", + "skeletal element", + "zeugopod", + "Aplasia/Hypoplasia of the iris", + "mouth", + "paired limb/fin", "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "abnormal anatomical entity", - "abnormal artery morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal forearm morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "Abnormality of limbs", + "Abnormal calvaria morphology", + "Anal atresia", + "abnormally formed anterior chamber of eyeball", + "anatomical conduit", + "septum", "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "abnormal vein morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Decreased body weight", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", + "abnormal digestive system morphology", + "endochondral bone", + "subdivision of skeleton", + "Abnormal forebrain morphology", + "appendage girdle complex", + "subdivision of head", + "Abnormality of limbs", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "Abnormal long bone morphology", "absent sperm in the semen", - "Abnormal eye physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal internal genitalia", - "Abnormal tracheobronchial morphology", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Recurrent infections", - "asymmetrically curved cornea", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "Abnormal vascular morphology", + "vasculature", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "Abnormal venous morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "venous blood vessel", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "abnormal liver", + "embryonic morphogenesis", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "abnormal vasculature", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "olfactory system", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "cardiovascular system", + "blood vasculature", + "blood vessel", + "penis", + "Orofacial cleft", + "digestive system element", + "Abnormality of body weight", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "abnormal artery morphology in the independent continuant", + "abnormal cranium morphology", + "Abnormality iris morphology", + "abnormal penis morphology", + "organism", + "secondary palate", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Neurodevelopmental abnormality", + "cerebrospinal fluid", + "forelimb bone", + "Abnormal uvula morphology", + "abnormal cardiac ventricle morphology", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal central nervous system morphology", + "abnormal brain ventricle morphology", + "skeletal joint", + "decreased length of forelimb zeugopod bone", + "Abnormality of the nose", + "developmental process involved in reproduction", + "organ system subdivision", + "abnormal nervous system morphology", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "pedal digit digitopodial skeleton", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb zeugopod bone", + "Abnormal shape of the frontal region", + "central nervous system", "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "abnormal nervous system", + "abnormal lens of camera-type eye morphology", + "Hydrocephalus", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "ventricular system of central nervous system", "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "abnormal cell", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "abnormal response to stimulus", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "decreased biological_process", + "abnormal neocortex morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "sensory perception", + "abnormality of anatomical entity mass", + "Abnormality of corneal shape", + "segment of autopod", + "Abnormal anterior eye segment morphology", + "abnormal eyeball of camera-type eye", + "cerebral hemisphere", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "endocrine gland", + "nose", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "Abnormal ear physiology", + "ecto-epithelium", "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal digestive system", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormal visual perception", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "ocular surface region", + "abnormal internal genitalia", + "Finger clinodactyly", + "epithelial tube", + "curvature anatomical entity", + "vessel", + "lateral structure", + "pulmonary valve", + "cellular organisms", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "absent sperm in the independent continuant", + "pelvic region element", + "All", + "Abnormal bone structure", + "Abnormality of male external genitalia", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "olfactory organ", + "Abnormality of the gastrointestinal tract", + "abnormal number of anatomical enitites of type anatomical entity", "absent gamete", - "abnormal phenotype by ontology source", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal form of the vertebral bodies", - "entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", + "iris", + "naris", "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal spatial pattern of anatomical entity", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "abnormal cornea morphology", - "continuant", - "abnormal craniocervical region morphology", - "Slanting of the palpebral fissure", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormally increased number of anatomical entity in the independent continuant", + "male gamete generation", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "arm", + "abnormal bone of pelvic complex morphology", + "vertebra", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "gonad", + "abnormal ulna morphology", + "Decreased anatomical entity mass density", + "ganglion", + "sensory system", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "upper limb segment", + "biological_process", + "abnormal reproductive process", + "opaque lens of camera-type eye", + "abnormal shape of external ear", + "abnormal shape of continuant", + "camera-type eye", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "neural tube development", + "external genitalia", + "abnormal anatomical entity morphology in the brain", + "abnormal male reproductive system morphology", + "mesoderm-derived structure", + "autopod bone", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "intramembranous bone", + "pelvic complex", + "anatomical line between pupils", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "Abnormality of the head", + "abnormal blood cell morphology", + "abnormal cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "phenotype by ontology source", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "abnormal amniotic fluid", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "increased biological_process", + "transudate", + "Abnormal joint morphology", + "anterior region of body", "abnormal head", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", + "artery", + "jaw region", + "epithelium development", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "reproductive structure", + "tunica fibrosa of eyeball", + "abnormal limb bone morphology", + "anatomical system", + "upper digestive tract", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "testis", + "non-connected functional system", + "abnormal growth", + "abnormal craniocervical region morphology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "appendage girdle region", + "platelet", "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal reproductive system morphology", + "hip", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal orbital region", + "simple eye", "abnormal male reproductive organ morphology", - "decreased developmental process", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", + "occurrent", + "pedal digit phalanx endochondral element", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "abnormality of male reproductive system physiology", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal face morphology", - "increased height of the anatomical entity", - "abnormal upper urinary tract", - "Limb undergrowth", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Overriding aorta", + "trachea", + "Abnormality of the skeletal system", + "Deviation of finger", + "organ", + "pedal digit plus metapodial segment", + "reproduction", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal manual digit morphology in the manus", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal eyelid morphology", + "manus", + "exocrine system", + "Abnormality of the genitourinary system", + "absent germ cell", + "Abnormal heart valve physiology", + "changed biological_process rate", "Abnormality of the outer ear", "abnormal gamete", - "abnormality of camera-type eye physiology", - "abnormal gamete generation", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", + "quality", + "Slanting of the palpebral fissure", + "ectoderm-derived structure", + "valve", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "palpebral fissure", + "abnormal head morphology", "decreased spermatogenesis", - "abnormal kidney morphology", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "Hypertrophic cardiomyopathy", + "digestive tract", + "abnormal shape of frontal cortex", + "abnormal great vessel of heart morphology", + "frontal cortex", + "Displacement of the urethral meatus", + "nervous system", + "abnormal face", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "vault of skull", + "skeleton of pectoral complex", + "specifically dependent continuant", + "organism substance", + "female reproductive organ", + "ocular adnexa", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "subdivision of organism along main body axis", + "cranium", + "abnormal ileum morphology", + "neural tube closure", + "curved anatomical entity", + "internal male genitalia", + "digestive system", + "decreased length of long bone", + "anatomical entity", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "abnormal ocular adnexa", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "Hypogonadism", + "arm bone", + "urethral opening", + "abnormal spinal cord morphology", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "multicellular organismal reproductive process", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "forelimb endochondral element", + "abnormal duodenum morphology", + "outflow tract of ventricle", + "Abnormality of the skin", + "abnormal leukocyte morphology", + "clavate digit", + "shape eyelid", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "material entity", + "increased reflex", + "long bone", + "Abnormality of the orbital region", + "roof of mouth", + "Microphthalmia", "absent anatomical entity in the multicellular organism", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Abnormal cornea morphology", - "Clubbing of toes", - "abnormal spermatogenesis", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", + "abnormal anterior uvea morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "postcranial axial skeleton", + "Decreased body weight", + "autopodial extension", + "forehead", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", "Abnormal penis morphology", - "abnormal ocular adnexa", - "Non-obstructive azoospermia", - "Abnormal cardiac atrium morphology", "Intellectual disability", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormal shape of continuant", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", + "eyelid", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Absent testis", - "Abnormal male reproductive system physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "changed developmental process rate", - "abnormal genitourinary system", - "abnormal vasculature", - "Morphological abnormality of the gastrointestinal tract", + "abnormal anatomical entity morphology", + "hindlimb joint", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal camera-type eye morphology", + "Abnormal eyelid morphology", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "abnormal hematopoietic system", + "asymmetrically curved cornea", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "abnormal number of anatomical enitites of type sperm", + "external male genitalia", + "Abnormal external genitalia", + "Abnormality of the peripheral nervous system", + "trunk region element", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "organism subdivision", + "abnormality of camera-type eye physiology", + "endocrine system", + "immune system", + "Abnormality of the curvature of the cornea", + "abnormal gamete generation", + "leukocyte", + "Abnormal facial shape", + "tube morphogenesis", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "reproductive system", + "opaque anatomical entity", + "system process", + "male gamete", + "visual system", + "lower respiratory tract", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", + "Cognitive impairment", + "organ subunit", + "abnormal male reproductive system", + "abnormal mouth morphology", + "abnormal bone element mass density", + "main body axis", + "obsolete multicellular organism reproduction", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "upper jaw region", + "gamete", + "tube formation", + "Abnormality of reproductive system physiology", + "process", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "limb", + "heart right ventricle", + "lens of camera-type eye", + "increased size of the anatomical entity", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "abnormal external male genitalia", "abnormal tracheobronchial tree morphology", - "Anal atresia", - "abnormal small intestine", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Abnormality of the anus", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormal pulmonary valve physiology", + "internal naris", + "sperm", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal postcranial axial skeleton morphology", + "Opisthokonta", + "Abnormality of the ocular adnexa", + "Abnormality of digestive system morphology", + "ear", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "orbital region", + "Abnormal pinna morphology", + "Reduced bone mineral density", + "Myelodysplasia", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "physiologic nystagmus", + "hemolymphoid system", + "Nystagmus", + "esophagus", + "Lower extremity joint dislocation", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "abnormal artery morphology", + "respiratory tract", + "germ line cell", + "bone element hypoplasia in independent continuant", + "respiratory tube", + "glans", "abnormality of multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "opaque anatomical entity", + "subdivision of tube", "Abnormal lens morphology", - "drooping eyelid", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Abnormal axial skeleton morphology", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "abnormal internal naris", - "Choanal atresia", - "posterior nasal aperture atresia", - "Short long bone", - "anus atresia", - "abnormal palpebral fissure", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "Abnormality of the choanae", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", - "abnormal nerve", - "Abnormality of the lower urinary tract", - "Displacement of the urethral meatus", - "abnormal urethra", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "abnormal digestive system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "abnormal respiratory system", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal incomplete closing of the anatomical entity", + "venous system", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Abnormal morphology of the great vessels", + "pectoral complex", + "abnormality of male reproductive system physiology", + "craniocervical region", + "Abnormality of cardiovascular system morphology", + "abnormal developmental process", + "gland", + "Abnormal cornea morphology", + "abnormal secondary palate morphology", + "tube", + "thoracic segment of trunk", + "pes bone", + "viscus", + "vertebral element", + "respiratory airway", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "Abnormality of the respiratory system", + "girdle skeleton", + "Hip dislocation", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "renal system", + "abnormally fused anatomical entity and manual digit", "abnormal renal system", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "decreased pigmentation in independent continuant", + "Abnormality of the lower urinary tract", + "posterior nasal aperture atresia", "Hypospadias", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "abnormal shape of palpebral fissure", + "epicanthal fold", + "hindlimb long bone", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "abnormal urethra", + "Abnormal male urethral meatus morphology", + "excretory system", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "Abnormality of prenatal development or birth", + "male urethra", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "head bone", + "shape digit", + "Clubbing", + "cranial neuron projection bundle", + "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", + "Short stature", + "Abnormality of the vertebral column", "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", + "vertebral column", "Scoliosis", - "Abnormality of the vertebral column", - "Macule", + "Abnormal curvature of the vertebral column", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Deviation of the 5th finger", + "regional part of brain", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", + "abnormal neurocranium morphology", "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", + "Hematological neoplasm", + "abnormal immune system morphology", + "lobe of cerebral hemisphere", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", "Leukopenia", - "Abnormal forebrain morphology", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal hematopoietic system", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal ocular adnexa morphology", "abnormally decreased number of hematopoietic cell", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", + "abnormal uvea morphology", "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", "abnormal immune system", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally decreased number of cell in the independent continuant", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Myelodysplasia", - "Frontal bossing", + "pedal digitopodium region", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "Facial asymmetry", + "Abnormal leukocyte count", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "abnormally decreased number of leukocyte in the blood", + "semi-lunar valve", + "hematopoietic cell", + "motile cell", + "abnormal leg", + "nucleate cell", + "haemolymphatic fluid", + "systemic artery", + "delayed biological_process", + "decreased pigmentation in independent continuant", + "tissue development", + "delayed growth", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", "abnormal size of brain ventricle", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "abnormal liver", + "forelimb", + "skeleton of pelvic complex", + "behavior", + "abdomen element", "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", + "liver", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", "abnormal anatomical entity topology in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", + "non-material anatomical boundary", "Hypertelorism", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", + "abnormal anatomical entity length", "increased anatomical entity length in independent continuant", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Renal insufficiency", + "late embryo", + "Cardiomyopathy", + "flat bone", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "abnormal anatomical entity, curved", + "anatomical line", + "immaterial anatomical entity", + "heart plus pericardium", + "gray matter of forebrain", "Oligohydramnios", - "abnormal soft palate morphology", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal biological_process", - "Growth delay", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "Duodenal stenosis", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "abnormal intestine morphology", + "amniotic fluid", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "Abnormality of the autonomic nervous system", + "Absent testis", + "embryo", + "skeleton of lower jaw", + "abnormal small intestine", + "cavitated compound organ", "Abnormal duodenum morphology", + "Azoospermia", + "Abnormal small intestine morphology", + "Ventricular septal defect", + "small intestine", + "duodenum", + "abnormal phalanx morphology", + "pes", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "pelvic appendage", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "digitopodium region", + "acropodium region", + "tube development", + "abnormal digit", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "skeleton of pedal digitopodium", + "leg", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "skeleton of pes", + "abnormal hindlimb morphology", + "Abnormal digit morphology", + "digit", "Abnormality of the lower limb", - "abnormal digit morphology", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "Abnormal cellular physiology", "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "abnormal digit", - "abnormal pedal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "abnormal oral cavity morphology", - "Abnormal soft palate morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", + "shape forehead", + "posterior region of body", + "phalanx endochondral element", + "abnormal phalanx of pes morphology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "Abnormal midface morphology", + "abnormal digit morphology", + "skeleton of digitopodium", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "individual digit of digitopodial skeleton", + "Choanal atresia", + "acropodial skeleton", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "phalanx", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", "abnormal midface morphology", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "Neurodevelopmental delay", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "abnormal oral cavity morphology", + "abnormal soft palate morphology", + "anatomical projection", + "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical cavity", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "Abnormal aortic valve morphology", + "midface", + "Abnormal soft palate morphology", + "Abnormal oral cavity morphology", + "Anemia", + "morphological feature", + "arterial blood vessel", + "anatomical structure development", + "Abnormality of skin morphology", + "abnormal cornea, curved", + "pigmentation", + "semen", + "abnormality of anatomical entity physiology", + "integumental system", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "integument", + "tracheobronchial tree", + "cerebral cortex", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "Abnormal ileum morphology", + "eyeball of camera-type eye", + "abnormal upper urinary tract", "abnormal skin of body", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal cardiac valve morphology in the heart", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "ulna hypoplasia", - "abnormal skin of body morphology", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal integument", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", + "ulna hypoplasia", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal nerve", + "limb joint", + "Hyperpigmentation of the skin", + "increased biological_process in skin of body", + "increased pigmentation in independent continuant", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "independent continuant", + "abnormal pigmentation", + "abnormality of cranial nerve physiology", + "paralysed cranial nerve", + "vein", + "multi cell part structure", + "cranial nerve", + "Frontal bossing", + "nerve", "Abnormal cranial nerve physiology", "Cranial nerve paralysis", - "paralysed cranial nerve", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", + "segment of manus", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "abnormal manus morphology", "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the extremities", + "circulatory system", + "Spina bifida", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "decreased pigmentation in skin of body", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "abnormal behavior process", "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", + "abnormal manus", + "skeleton of manus", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "anatomical space", "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "appendage", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", + "Clinodactyly of the 5th finger", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "Abnormality of bone mineral density", + "biogenic amine secreting cell", + "ossification", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the skeletal system", - "Deviation of finger", - "Abnormality of the eye", - "Finger clinodactyly", + "deviation of manual digit", + "manual digit 5", + "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "curved anatomical entity", - "decreased length of long bone", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "digit 1 or 5", + "trunk", + "manual digit 5 plus metapodial segment", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "deviation of digit towards the middle", + "Short forearm", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "forelimb zeugopod bone hypoplasia", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "Upper limb undergrowth", + "aplasia or hypoplasia of telencephalon", "decreased size of the anatomical entity in the independent continuant", + "abnormal incomplete closing of the interatrial septum", + "Decreased multicellular organism mass", + "intestine", "Aplasia/Hypoplasia of the ulna", - "bicornuate anatomical entity", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", + "articular system", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "Spinal dysraphism", + "articulation", + "increased size of the brain ventricle", + "zone of organ", + "abnormal voluntary movement behavior", + "tissue", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "skeletal joint dislocation", + "abnormal synovial joint morphology", + "Ventriculomegaly", + "multicellular organism development", + "trunk bone", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "peripheral nervous system", + "abnormal hip joint morphology", + "Micrognathia", + "anatomical entity dislocation", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "Abnormal hip bone morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "stylopod", + "upper leg bone", + "abnormally localised anatomical entity", + "Abnormal heart morphology", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "abnormal limb bone", + "anatomical structure morphogenesis", + "dentary", + "femur endochondral element", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "autopodial skeleton", + "epithelium", + "presumptive structure", + "abnormal neural tube morphology", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "nervous system development", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "Aplasia/Hypoplasia of the cerebrum", + "tube closure", + "neural tube", + "developing anatomical structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "embryonic structure", + "abnormal palpebral fissure", + "abnormal tube formation", + "Neural tube defect", + "anatomical structure formation involved in morphogenesis", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "embryo development", + "Abnormal neural tube morphology", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal multicellular organismal reproductive process", + "system development", + "appendicular skeleton", + "spinal cord", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "ganglion of peripheral nervous system", + "abnormal autonomic nervous system morphology", + "conceptus", + "abnormal vertebra morphology", + "embryonic epithelial tube formation", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Vertebral arch anomaly", + "dorsum", + "abnormal bony vertebral centrum morphology", + "brain ventricle", + "future nervous system", + "abnormal olfactory system morphology", + "bony vertebral centrum", + "enteric ganglion", + "Unusual infection", + "abnormal enteric ganglion morphology", + "neurocranium bone", + "Abnormal autonomic nervous system morphology", + "parasympathetic nervous system", + "autonomic nervous system", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "Abnormality of enteric ganglion morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "embryonic tissue", + "ileum", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal respiratory system morphology", + "abnormally protruding anatomical entity", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal vault of skull", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + "membrane bone", + "cranial bone", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "female reproductive system", + "dermal skeleton", ], "has_phenotype_count": 106, "highlight": None, "score": None, }, { - "id": "MONDO:0013248", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "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 RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], "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", + "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:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", "HP:0002984", - "HP:0000126", - "HP:0000028", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", "HP:0004322", - "HP:0001245", - "HP:0003774", - "HP:0025023", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045", ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", ], "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", - "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", - "HP:0001510", + "HP:0000086", + "CL:0000039", + "CL:0000413", + "UBERON:0001968", + "HP:0000078", + "HP:0000035", + "UPHENO:0005016", + "UBERON:0000463", + "UPHENO:0078729", + "HP:0000032", + "CL:0000586", + "GO:0019953", + "GO:0007283", + "GO:0007276", + "UPHENO:0085194", + "UPHENO:0050101", + "UBERON:0004054", + "UBERON:0000473", + "UPHENO:0053580", + "UPHENO:0005597", + "UPHENO:0087547", + "UPHENO:0049367", + "UPHENO:0086198", "UPHENO:0086201", + "UPHENO:0002598", + "UBERON:0004176", + "CL:0000408", + "UBERON:0000990", + "HP:0012243", + "UPHENO:0002371", + "UPHENO:0003055", + "UPHENO:0078452", + "UBERON:0005156", + "UPHENO:0002378", + "UPHENO:0049985", + "UPHENO:0085873", + "UPHENO:0087802", + "GO:0000003", + "GO:0003006", + "GO:0048609", + "GO:0032504", + "UPHENO:0049940", + "UPHENO:0052778", "HP:0000811", - "UPHENO:0074228", + "UBERON:0003101", + "GO:0048232", + "GO:0022414", + "UPHENO:0049970", + "UPHENO:0049701", + "HP:0008669", + "UBERON:0002105", + "GO:0007605", + "GO:0050954", + "HP:0000028", + "UPHENO:0052231", + "HP:0012874", + "UPHENO:0002332", + "UPHENO:0005433", + "UPHENO:0052178", + "UPHENO:0050625", + "HP:0000598", + "UPHENO:0005518", + "UPHENO:0052970", + "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0075159", + "UPHENO:0080351", + "HP:0003220", + "UPHENO:0085875", + "GO:0050794", + "GO:0019222", + "GO:0006139", + "GO:0046483", + "GO:0010629", + "UPHENO:0050021", + "UPHENO:0050121", + "GO:0010558", + "GO:0006325", + "GO:0010556", + "GO:0009890", + "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", + "HP:0003221", + "UPHENO:0049990", + "UPHENO:0049873", + "GO:0005623", + "GO:0031049", + "GO:0050789", + "HP:0031704", + "GO:0006807", + "GO:0044238", + "UPHENO:0049700", + "GO:0031052", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "GO:0009892", + "GO:0032501", + "UBERON:0013701", + "GO:0034641", + "HP:0000929", + "UBERON:0000073", + "HP:0040195", + "UPHENO:0050620", "UPHENO:0001005", - "UPHENO:0002597", - "HP:0011793", - "UPHENO:0076776", - "HP:0006503", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "UPHENO:0002839", + "HP:0009121", + "HP:0000152", + "HP:0012639", "BFO:0000002", - "UPHENO:0053298", - "HP:0004322", - "UPHENO:0002833", - "UPHENO:0080099", - "HP:0030680", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0046411", - "UPHENO:0080351", - "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "HP:0005773", + "HP:0002011", + "UPHENO:0076739", + "HP:0001034", + "UPHENO:0060026", + "HP:0009380", + "UPHENO:0080221", + "UPHENO:0008523", + "UPHENO:0087518", + "UPHENO:0020888", + "UPHENO:0082682", + "UBERON:0002097", + "UBERON:0002193", + "UBERON:0000004", + "GO:0043473", + "BFO:0000015", + "UPHENO:0049587", + "UPHENO:0002844", + "HP:0030791", + "UPHENO:0082875", + "HP:0011355", + "UPHENO:0054970", + "UBERON:0001016", + "UPHENO:0086700", + "UPHENO:0026183", + "HP:0011297", + "UBERON:5001463", + "NCBITaxon:2759", + "HP:0002977", + "UBERON:0010363", + "UBERON:0019221", + "UBERON:0002416", + "UBERON:0012128", + "UPHENO:0080325", + "UBERON:0015203", + "UPHENO:0002642", + "CL:0000738", + "UPHENO:0006910", + "UPHENO:0002905", + "UBERON:0002199", + "HP:0000077", + "UPHENO:0076723", + "NCBITaxon:131567", + "UPHENO:0088116", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0012141", + "UPHENO:0080114", "HP:0001155", - "UPHENO:0077426", - "UPHENO:0084771", - "HP:0005922", - "UPHENO:0008668", - "UPHENO:0018390", + "UBERON:0015001", + "UBERON:0007811", + "UPHENO:0026506", + "HP:0008069", + "PATO:0000001", + "UBERON:0003133", + "UBERON:5006048", + "UPHENO:0081435", + "HP:0000364", + "UPHENO:0021791", + "UBERON:0002544", + "UBERON:0005451", + "UBERON:0000467", + "UPHENO:0053588", + "UPHENO:0002240", + "UBERON:0004765", + "UBERON:0004053", + "UPHENO:0086005", + "UBERON:0001423", + "UBERON:0004456", + "UPHENO:0001002", + "HP:0009601", + "UBERON:0003607", + "UBERON:0015061", + "UBERON:0003129", + "UPHENO:0002833", + "CL:0000225", + "UBERON:0011582", + "UPHENO:0085068", + "UBERON:0004708", + "UPHENO:0050108", + "HP:0000414", + "UBERON:0034925", + "UBERON:0000991", + "UBERON:0005944", + "BFO:0000004", + "UBERON:0013765", + "UBERON:0012139", + "UPHENO:0012541", "UPHENO:0084766", - "UPHENO:0021561", + "UBERON:0015212", + "BFO:0000040", + "UBERON:0001442", + "UPHENO:0074584", + "UBERON:0002513", + "UBERON:0011138", + "HP:0001574", + "UPHENO:0088186", + "UPHENO:0080352", + "UBERON:0000075", + "HP:0009815", + "UBERON:0003113", + "UPHENO:0080382", + "HP:0001000", + "UBERON:0010912", + "HP:0040072", + "UBERON:0000020", + "UBERON:0002386", + "UBERON:0000033", "HP:0009821", - "HP:0025354", "UPHENO:0080126", - "UPHENO:0076810", + "HP:0000119", + "UPHENO:0076799", + "GO:1901360", + "UBERON:0000061", + "UBERON:0035639", + "UPHENO:0086589", + "UPHENO:0076791", + "RO:0002577", + "HP:0000951", + "UPHENO:0084457", + "UPHENO:0002828", + "UBERON:0000153", + "UPHENO:0009382", + "UPHENO:0080300", + "UPHENO:0088162", + "UBERON:0004710", + "UPHENO:0084448", + "UPHENO:0086956", + "UBERON:0000062", + "GO:0031327", + "HP:0002984", + "BFO:0000003", + "UBERON:5002389", + "UPHENO:0086049", + "PR:000050567", + "UBERON:0001711", + "UPHENO:0053298", + "UBERON:0000165", + "UBERON:0010741", + "HP:0002692", + "UBERON:0004756", + "UBERON:0000465", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0050008", + "HP:0006496", + "UBERON:0001434", + "UPHENO:0087973", + "HP:0004322", + "UPHENO:0075878", + "HP:0009778", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0069254", + "UBERON:0003466", + "UBERON:0008785", + "UPHENO:0086633", + "UBERON:0011156", + "UBERON:0012140", + "CL:0001035", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0046505", + "UPHENO:0041465", + "UPHENO:0085874", + "GO:0048519", + "UBERON:0006058", + "HP:0000025", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "UPHENO:0081204", + "UBERON:0001017", + "HP:0000002", + "HP:0000953", + "UPHENO:0076740", + "UBERON:0002514", + "UBERON:0000955", + "UBERON:0010703", + "HP:0000436", + "HP:0000365", + "GO:0009987", + "HP:0005927", "HP:0011844", + "HP:0007364", "UPHENO:0080079", - "HP:0009601", - "HP:0001507", + "UPHENO:0003811", + "UBERON:0002102", + "UPHENO:0059829", + "UPHENO:0087846", + "UBERON:0001555", + "HP:0006501", + "HP:0002817", + "UPHENO:0001001", + "UBERON:0006048", + "UBERON:5002544", + "UPHENO:0087510", + "UBERON:0010708", + "UBERON:0000019", + "HP:0005773", + "HP:0000366", + "HP:0100547", + "HP:0002060", + "CL:0000988", + "UPHENO:0005651", + "UPHENO:0076718", + "HP:0001167", + "HP:0040064", + "UPHENO:0081313", + "UPHENO:0082444", + "UBERON:0002204", "UPHENO:0076703", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", - "HP:0009824", - "UPHENO:0084448", - "UPHENO:0086700", - "UPHENO:0081204", - "HP:0001245", - "HP:0004378", - "HP:0000001", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0001939", - "UPHENO:0001003", - "UPHENO:0012274", - "UPHENO:0086644", - "HP:0011314", - "UPHENO:0050121", - "UPHENO:0085875", - "HP:0009603", - "UPHENO:0046538", - "HP:0001167", - "HP:0040064", - "UPHENO:0076779", - "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0068971", - "UPHENO:0078452", - "UPHENO:0001002", - "UPHENO:0080362", - "HP:0011297", - "HP:0001626", - "HP:0003220", - "UPHENO:0011498", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", - "UPHENO:0050113", - "HP:0034058", - "UPHENO:0086128", - "UPHENO:0049587", - "HP:0006501", - "UPHENO:0002708", - "HP:0000032", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0001197", - "UPHENO:0050021", "HP:0045060", - "HP:0034915", - "UPHENO:0002830", - "UPHENO:0086682", - "HP:0025033", - "UPHENO:0050845", - "BFO:0000020", - "UPHENO:0081466", - "HP:0040012", - "HP:0000028", - "UPHENO:0049748", - "UPHENO:0076723", - "UPHENO:0002647", - "UPHENO:0049873", - "HP:0000083", - "UPHENO:0026506", - "HP:0000027", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", - "UPHENO:0026181", - "HP:0003241", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0076727", - "HP:0006265", - "HP:0011425", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0002595", - "UPHENO:0003055", - "HP:0011805", + "HP:0011017", + "NCBITaxon:33208", + "HP:0000118", + "HP:0001876", + "UPHENO:0080662", "HP:0009777", - "UPHENO:0026183", - "HP:0040068", - "HP:0040070", - "UPHENO:0009382", - "UPHENO:0049990", - "UPHENO:0076724", - "HP:0009381", - "UPHENO:0088186", - "HP:0009815", + "UBERON:0004921", + "UBERON:0004120", + "UBERON:0002101", + "HP:0000001", + "UPHENO:0087950", + "UPHENO:0021517", + "UBERON:0005881", + "UBERON:0001062", + "HP:0001873", + "UBERON:0010314", + "UPHENO:0031839", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0011121", + "HP:0000027", + "UPHENO:0069294", + "CL:0000019", + "HP:0003026", + "UPHENO:0075195", + "BFO:0000141", + "HP:0009824", + "GO:0003008", + "UBERON:0010538", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0000026", + "UPHENO:0021561", + "UBERON:0003606", + "UBERON:0002405", + "HP:0000080", + "UBERON:0010712", + "UBERON:0001440", + "UBERON:0004121", "HP:0000924", - "UPHENO:0079876", - "UPHENO:0063639", - "UPHENO:0002816", - "UPHENO:0053580", - "HP:0001172", - "HP:0000118", - "HP:0011842", "UPHENO:0075696", + "HP:0011842", + "UPHENO:0018390", + "UBERON:0001444", "UPHENO:0081790", "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0080187", "HP:0000812", - "HP:0040072", - "UPHENO:0081451", + "HP:0000240", + "UPHENO:0086635", + "HP:0007400", + "HP:0033127", + "UPHENO:0002880", + "UBERON:0012475", + "UPHENO:0085195", + "UBERON:0010000", + "UPHENO:0054577", + "UBERON:0002390", + "HP:0001877", + "UBERON:0002389", + "UPHENO:0046538", "UPHENO:0087349", - "HP:0000002", - "UPHENO:0020041", - "UPHENO:0086198", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076718", - "UPHENO:0075902", - "UPHENO:0046624", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0002751", + "UBERON:0000468", + "HP:0012733", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0005922", + "UBERON:0004175", + "UBERON:0011216", + "UBERON:0011249", + "HP:0001045", + "HP:0040070", + "HP:0011961", + "GO:0043170", + "HP:0010938", + "HP:0008050", + "CL:0000151", + "HP:0009115", + "UPHENO:0004523", "UPHENO:0079872", - "UPHENO:0012541", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0049940", - "HP:0010935", - "HP:0010944", - "UPHENO:0001072", - "UPHENO:0005651", - "UPHENO:0084132", - "UPHENO:0084124", - "HP:0008669", - "HP:0012210", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "HP:0010945", - "UPHENO:0080377", - "HP:0034242", - "UPHENO:0053644", - "UPHENO:0002786", - "UPHENO:0075893", - "HP:0000079", - "UPHENO:0001478", - "UPHENO:0002598", + "UBERON:0010758", + "UPHENO:0076727", + "UPHENO:0074589", + "UBERON:0002091", + "UPHENO:0081314", + "UPHENO:0080187", + "UBERON:0013702", + "UPHENO:0020584", + "UPHENO:0054957", + "UBERON:0002428", + "HP:0001903", + "UPHENO:0004459", + "GO:0090304", + "UPHENO:0046540", + "UPHENO:0087006", + "UPHENO:0085144", + "GO:0007600", + "UPHENO:0041075", + "UBERON:0007272", + "UPHENO:0088170", + "UBERON:0010740", "UPHENO:0081792", - "HP:0000126", - "UPHENO:0005597", - "UPHENO:0085194", - "HP:0004097", - "HP:0000025", - "UPHENO:0020950", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "HP:0100871", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "HP:0012243", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0049970", - "UPHENO:0049701", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "UPHENO:0052178", - "UPHENO:0087802", - "UPHENO:0085873", + "HP:0011314", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0003278", + "UPHENO:0012274", + "UPHENO:0085118", + "UBERON:0002113", + "HP:0009826", "UPHENO:0081755", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0050101", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", - "UPHENO:0081424", - "UPHENO:0002880", - "UPHENO:0075159", + "UBERON:0002471", + "UPHENO:0075198", + "UBERON:0002529", + "UPHENO:0008668", + "UPHENO:0068971", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0003085", + "UPHENO:0078606", + "HP:0006265", + "GO:0071704", + "UBERON:0011159", + "HP:0000153", + "UPHENO:0080377", + "UBERON:0004111", + "UBERON:0011137", + "UBERON:0002090", + "UPHENO:0083646", + "UBERON:0001893", + "UBERON:0001890", + "UBERON:0000047", + "HP:0025461", + "HP:0000234", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", + "NCBITaxon:33154", + "UBERON:0000970", + "UBERON:0004742", + "HP:0000252", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0087472", + "UPHENO:0074575", + "UPHENO:0046707", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000957", + "UBERON:0000481", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "NCBITaxon:6072", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0081788", + "HP:0002664", + "HP:0011793", + "HP:0001507", + "GO:0010468", "UPHENO:0000541", + "UBERON:0001456", + "HP:0005105", + "UPHENO:0049874", + "UPHENO:0000543", + "UPHENO:0086023", + "HP:0001510", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UPHENO:0046753", + "UBERON:0003103", + "HP:0000315", + "UPHENO:0085189", + "UPHENO:0034770", + "HP:0032039", + "UPHENO:0076761", + "HP:0012745", + "HP:0000492", + "UPHENO:0075220", + "UPHENO:0086595", + "HP:0030669", + "UBERON:0001819", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0080200", + "HP:0200007", + "HP:0000125", + "UPHENO:0002910", + "HP:0045025", + "UPHENO:0041821", + "UPHENO:0020041", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", + "HP:0006503", + "UBERON:0002104", + "UBERON:0003462", + "HP:0010461", + "UPHENO:0054567", + "UBERON:0034923", + "UBERON:0034921", + "UPHENO:0077426", + "HP:0020047", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0085070", + "GO:0065007", + "UPHENO:0087355", + "HP:0012145", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0085984", + "HP:0002715", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "CL:0000458", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0063722", + "HP:0001881", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "GO:0032502", + "UPHENO:0002832", + "HP:0032251", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "CL:0000000", + "UPHENO:0002948", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000233", + "UBERON:0013522", + "UBERON:0001710", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", + "UPHENO:0076779", + "CL:0000255", + "UPHENO:0080099", + "CL:0000219", + "CL:0002242", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009122", + "HP:0011821", + "HP:0009118", + "UBERON:0010313", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0011595", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0003457", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "UPHENO:0081786", + "UBERON:0011158", + "UBERON:0003135", + "HP:0009116", + "HP:0000347", + "HP:0025031", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0002896", + "GO:0043933", + "UBERON:0012360", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0076800", + "HP:0034261", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0076692", + "UPHENO:0069249", + "UPHENO:0076803", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "GO:0050877", + "HP:0011927", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076805", + "UPHENO:0088168", + "UBERON:0002268", + "UBERON:0000466", + "UPHENO:0084715", + "UBERON:0002470", + "UBERON:0007827", + "UPHENO:0087430", + "CL:0000300", + "HP:0012130", + "UBERON:0011143", + "UBERON:0005177", + "UPHENO:0041629", + "UPHENO:0087427", + "UBERON:0000916", + "HP:0100542", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0082129", + "UBERON:0005173", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "HP:0012210", + "UBERON:8450002", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0002907", + "HP:0010935", + "UBERON:0002398", + "UBERON:0009569", + "HP:0000085", + "UBERON:0010323", + "UBERON:0000489", + "UPHENO:0041226", + "UBERON:0001008", + "UPHENO:0050113", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "UPHENO:0050116", + "GO:0008152", + "HP:0000079", + "GO:0048523", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", - "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", - "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", + "Pelvic kidney", + "Ectopic kidney", + "sperm", + "haploid cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormality of reproductive system physiology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", + "decreased developmental process", + "decreased spermatogenesis", + "abnormal testis morphology", + "male germ cell", + "male gamete", + "reproductive system", + "abnormality of reproductive system physiology", + "abnormal gamete", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "external male genitalia", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "abnormally localised anatomical entity in independent continuant", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "semen", + "reproductive structure", + "organism substance", + "absent gamete", + "male gamete generation", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "gonad", + "external genitalia", + "reproductive process", + "decreased qualitatively developmental process", + "Abnormal testis morphology", + "Azoospermia", + "abnormal male reproductive system morphology", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "system process", + "ear", + "abnormal developmental process", + "sensory perception", + "abnormality of anatomical entity physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "multicellular organismal process", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", + "decreased height of the multicellular organism", + "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "nervous system process", + "abnormal nitrogen compound metabolic process", "abnormal organelle organization", - "Anal atresia", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "Abnormality of head or neck", + "Abnormal cerebral morphology", + "arm bone", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "root", + "appendage", + "organism", + "Neoplasm of the skin", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "regional part of nervous system", + "Abnormality of brain morphology", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "multi-tissue structure", + "tissue", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal mouth", + "Abnormality of skin pigmentation", + "skeleton of limb", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "decreased length of forelimb zeugopod bone", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Cafe-au-lait spot", + "primary subdivision of skull", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "biological_process", + "abnormal integument", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "pigmentation", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "skeleton of manus", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "gamete generation", + "protein-containing material entity", + "agenesis of anatomical entity", + "digit", + "Hyperpigmentation of the skin", + "Abnormal digit morphology", + "cellular process", + "Absent thumb", + "abnormal autopod region morphology", + "Abnormal myeloid cell morphology", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal manus morphology", + "negative regulation of cellular process", "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", - "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", + "bone marrow", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "skeletal element", + "zeugopod", + "cranial skeletal system", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "abnormal face", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "craniocervical region", + "forelimb zeugopod skeleton", + "facial skeleton", + "anatomical conduit", + "abnormal limb morphology", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of skeleton", + "lateral structure", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "subdivision of head", + "appendage girdle complex", + "manual digit plus metapodial segment", + "abnormal craniocervical region morphology", + "continuant", + "abnormal size of anatomical entity", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormality of renal system physiology", + "skeleton of lower jaw", + "material anatomical entity", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal phenotype by ontology source", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "erythrocyte", + "abnormal blood cell", "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", + "phenotype", + "Abnormal cell morphology", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "skeletal system", + "motile cell", + "skull", + "limb skeleton subdivision", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal forebrain morphology", + "forelimb", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", - "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", + "decreased size of the mandible", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "forelimb zeugopod", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "anatomical system", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", "decreased length of manual digit", - "Abnormality of limbs", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "endochondral element", "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", - "decreased height of the multicellular organism", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", + "Abnormality of limbs", + "membrane bone", + "paired limb/fin", "Hypoplasia of the radius", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "limb", + "increased size of the anatomical entity", + "bone element", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "abnormal limb bone morphology", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "forelimb skeleton", + "genitourinary system", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "Aplasia/hypoplasia of the extremities", "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", + "Hypoplastic facial bones", + "forelimb bone", + "anatomical entity hypoplasia", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "upper limb segment", + "appendicular skeleton", + "appendicular skeletal system", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "bone of appendage girdle complex", + "aplastic manual digit 1", + "dentary", + "segment of autopod", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "arm", + "abnormal nose morphology", + "skeleton", + "organism subdivision", + "forelimb zeugopod bone hypoplasia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", + "integument", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin segment", + "abnormal axial skeleton plus cranial skeleton morphology", + "Opisthokonta", "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", "Short forearm", "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", + "subdivision of digestive tract", + "limb endochondral element", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "multi-limb segment region", "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", + "Limb undergrowth", + "abnormal face morphology", + "radius endochondral element", + "limb long bone", + "zeugopodial skeleton", + "eye", + "compound organ", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "abnormal nervous system", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "forelimb zeugopod bone", + "nervous system", + "Narrow palpebral fissure", + "renal system", + "axial skeleton plus cranial skeleton", "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", + "Abnormality of the nervous system", + "Abnormal hand morphology", + "Metazoa", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "abnormal facial skeleton morphology", + "main body axis", + "Abnormal appendicular skeleton morphology", + "decreased width of the palpebral fissure", "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "abnormal telencephalon morphology", + "body proper", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "axial skeletal system", + "Growth abnormality", + "abnormal orbital region", + "aplasia or hypoplasia of manual digit", + "face", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "delayed growth", "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "Short finger", - "thenar eminence hypoplasia", - "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", + "abnormal ocular adnexa", + "multi organ part structure", + "hemolymphoid system", + "camera-type eye", + "Abnormality of the hand", + "radius bone", + "Anemia", + "ocular adnexa", + "manus", + "abnormal eyelid morphology", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "abnormal size of palpebral fissure", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormality of the orbital region", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "organ part", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormality of the face", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "orbital region", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "internal male genitalia", + "programmed DNA elimination", + "decreased length of long bone", + "obsolete cell", + "digestive system", + "abnormal hematopoietic system", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "Abnormality of the immune system", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormal immune system", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal hematopoietic system morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "nucleate cell", + "oxygen accumulating cell", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Abnormal jaw morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormal digit", + "lower jaw region", + "subdivision of tube", + "anatomical entity hypoplasia in face", + "abnormal digestive system", + "digestive tract", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", - "Short stature", - "decreased size of the multicellular organism", - "abnormal growth", - "abnormal cardiovascular system", - "delayed growth", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "Abnormality of body height", + "tube", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "immune system", + "facial bone", + "mandible", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "abnormal jaw skeleton morphology", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "anterior region of body", + "decreased length of manual digit 1", + "Short digit", + "Short finger", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "anatomical point", + "aplastic anatomical entity", + "Bulbous nose", + "abnormally increased volume of anatomical entity", + "Abnormal external nose morphology", + "Abnormality of the nose", + "nose", + "nose tip", + "olfactory organ", + "Abnormal nasal tip morphology", + "entire sense organ system", + "abnormal external nose morphology", + "immaterial anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "Horseshoe kidney", + "abnormal renal system morphology", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "abnormal renal system", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "3-D shape anatomical entity", + "changed developmental process rate", + "abnormal genitourinary system", + "excretory system", + "Abnormality of the kidney", + "manual digit 1 plus metapodial segment", + "abdomen", + "abdominal segment element", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "metabolic process", + "abdominal segment of trunk", + "biological regulation", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "abnormal chromatin organization", + "abnormal metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", ], - "has_phenotype_count": 15, + "has_phenotype_count": 20, "highlight": None, "score": None, }, { - "id": "MONDO:0013499", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", + "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 SLX4 gene.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], "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", + "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:0000957", - "HP:0000252", - "HP:0002860", + "HP:0040012", "HP:0002984", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", + "HP:0009777", + "HP:0001627", + "HP:0002023", + "HP:0000126", + "HP:0000028", "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", + "HP:0009623", + "HP:0000107", + "HP:0003241", "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", + "HP:0001245", + "HP:0003774", + "HP:0025023", ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Squamous cell carcinoma", + "Chromosome breakage", "Hypoplasia of the radius", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", + "Absent thumb", + "Abnormal heart morphology", + "Anal atresia", + "Hydronephrosis", "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", - ], - "has_phenotype_closure": [ - "UPHENO:0002597", - "HP:0000078", - "UPHENO:0003055", - "HP:0000080", - "UPHENO:0053580", - "UPHENO:0050101", - "HP:0012874", - "HP:0000812", - "UPHENO:0081755", - "HP:0000811", - "HP:0000028", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0002595", - "UPHENO:0049367", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "UPHENO:0085874", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0005651", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0082875", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0052178", - "UPHENO:0002240", - "HP:0000002", - "UPHENO:0080352", - "UPHENO:0081424", - "HP:0011017", - "HP:0003221", - "UPHENO:0050116", - "HP:0001939", - "UPHENO:0050021", - "UPHENO:0049990", - "UPHENO:0049748", - "UPHENO:0050113", - "HP:0003220", - "HP:0000079", - "UPHENO:0086023", - "UPHENO:0041226", - "UPHENO:0080382", - "UPHENO:0041629", - "UPHENO:0082129", - "HP:0012210", - "HP:0000085", - "UPHENO:0002332", - "UPHENO:0087427", - "HP:0100542", - "UPHENO:0049940", - "HP:0010935", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "UPHENO:0087430", - "UPHENO:0065599", - "HP:0000436", - "UPHENO:0084715", - "HP:0000414", - "UPHENO:0088168", - "HP:0000086", - "UPHENO:0001072", - "UPHENO:0053298", - "UPHENO:0084727", - "HP:0009381", - "UPHENO:0046624", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076803", - "UPHENO:0083646", - "HP:0034261", - "HP:0004322", - "UPHENO:0002833", - "HP:0009118", - "HP:0011821", - "UPHENO:0046411", - "HP:0000277", - "HP:0025031", - "HP:0000347", - "UPHENO:0081786", - "HP:0000252", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "HP:0002060", - "UPHENO:0076718", - "UPHENO:0054567", - "UPHENO:0004523", - "UPHENO:0085873", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0010461", - "UPHENO:0050625", - "HP:0000929", - "UPHENO:0087802", - "HP:0001000", - "UPHENO:0087547", - "UPHENO:0088170", - "UPHENO:0001001", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0003026", - "UPHENO:0076791", - "UPHENO:0086589", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0002635", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0088162", - "HP:0000953", - "HP:0025033", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0080377", - "UPHENO:0075195", - "UPHENO:0080662", - "UPHENO:0081435", - "UPHENO:0021791", - "HP:0001574", - "HP:0007400", - "HP:0000001", - "HP:0000032", - "UPHENO:0022529", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0050121", - "HP:0002692", - "UPHENO:0074572", - "UPHENO:0080221", - "HP:0000957", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia", + ], + "has_phenotype_closure": [ + "UBERON:0000160", + "UBERON:0006866", + "UBERON:0001052", "UPHENO:0086700", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0050845", - "UPHENO:0034770", - "UPHENO:0080099", - "UPHENO:0076739", - "HP:0007364", - "HP:0002977", - "UPHENO:0086595", - "HP:0000492", - "UPHENO:0088116", - "UPHENO:0054970", - "UPHENO:0002378", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0084763", - "UPHENO:0076702", - "UPHENO:0002708", - "UPHENO:0002764", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0087501", - "HP:0000707", - "UPHENO:0086172", - "HP:0001034", - "HP:0001873", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", - "HP:0012443", - "UPHENO:0026181", - "UPHENO:0084987", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086633", - "HP:0030791", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "UPHENO:0074584", - "UPHENO:0081790", - "HP:0001871", - "UPHENO:0079876", - "HP:0000118", - "UPHENO:0080165", - "HP:0001172", - "UPHENO:0076724", - "UPHENO:0085195", - "HP:0011961", + "UBERON:0001015", "UPHENO:0087006", - "HP:0032039", - "UPHENO:0077426", - "HP:0000240", - "HP:0000077", + "UBERON:5001463", + "UPHENO:0009382", + "NCBITaxon:2759", + "UBERON:0019221", + "UBERON:0001442", + "HP:0000001", + "UBERON:0008837", + "UPHENO:0008523", + "UPHENO:0006910", "UPHENO:0002905", - "HP:0012733", - "UPHENO:0081423", - 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"UPHENO:0002896", + "GO:0048232", + "GO:0044237", + "UBERON:0010363", + "UBERON:0012475", + "UPHENO:0002880", + "UPHENO:0075159", + "GO:0048519", + "UPHENO:0085874", + "UBERON:0006058", + "UBERON:0010741", + "HP:0006265", + "HP:0002023", + "UPHENO:0078606", + "HP:0034057", + "UPHENO:0081424", + "UBERON:5002389", + "BFO:0000003", + "PR:000050567", + "GO:0010556", + "HP:0040070", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0087802", + "UBERON:0010912", + "HP:0040072", + "HP:0006503", + "RO:0002577", + "HP:0010461", + "UBERON:0000062", "UPHENO:0086956", - "UPHENO:0012541", - "HP:0010938", - "HP:0009778", - "HP:0006496", - "UPHENO:0075878", - "UPHENO:0020950", - "UPHENO:0054577", - "HP:0030669", - "UPHENO:0087089", - "UPHENO:0003085", - "HP:0002715", - "HP:0008050", - "UPHENO:0020888", - "UPHENO:0075997", - "UPHENO:0081314", - "HP:0009826", - "UPHENO:0075198", - "UPHENO:0041821", - "HP:0045025", - "HP:0000271", - "UPHENO:0001002", - "UPHENO:0087924", - "HP:0012745", - "HP:0005105", - "UPHENO:0000541", - "HP:0040012", - "UPHENO:0081466", - "UPHENO:0086005", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0086172", + "UBERON:0000059", + "HP:0009115", + "GO:0031049", + "UBERON:0002075", + "HP:0025354", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0000948", + "UBERON:0003103", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UPHENO:0076803", + "UPHENO:0080362", + "UBERON:0001009", + "UPHENO:0086128", + "UBERON:0002398", + "UBERON:0009569", + "NCBITaxon:6072", + "UPHENO:0076776", + "UBERON:0000161", + "UPHENO:0084841", + "HP:0001446", + "UBERON:0000025", + "UPHENO:0063599", + "HP:0009380", + "UPHENO:0074228", + "UBERON:0000990", + "HP:0000924", + "UBERON:0004121", + "GO:0006807", + "UPHENO:0002839", + "HP:0004378", + "HP:0001245", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0084448", + "UBERON:0001245", + "UPHENO:0079876", + "UBERON:0001007", + "HP:0011793", + "HP:0025033", + "HP:0011805", + "UPHENO:0086682", + "HP:0034915", + "HP:0025031", + "GO:0031326", + "UPHENO:0065599", + "UBERON:0011143", + "UPHENO:0053580", + "UPHENO:0002816", + "GO:0006325", + "UPHENO:0063639", + "UBERON:0001224", + "HP:0001197", + "UBERON:0000922", + "UPHENO:0015280", + "GO:0016043", + "UPHENO:0075902", + "HP:0010946", + "GO:0048609", + "GO:0003006", + "UPHENO:0080382", + "HP:0034242", + "UPHENO:0087427", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000916", + "UBERON:0002417", + "UBERON:0005173", + "HP:0034058", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0075949", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0084132", + "UPHENO:0076718", + "UPHENO:0005651", + "HP:0000119", + "UBERON:0007100", + "UPHENO:0005016", + "UBERON:0000064", + "UBERON:8450002", + "HP:0003241", + "HP:0010935", + "UPHENO:0049940", + "HP:0010945", + "UPHENO:0076779", + "UBERON:0010538", + "UPHENO:0001478", + "UBERON:0000323", + "UBERON:0034923", + "UPHENO:0084834", + "UBERON:0004054", + "UBERON:0001008", + "UPHENO:0002714", + "GO:0050794", + "UPHENO:0085875", + "UBERON:0014793", + "HP:0009603", + "UBERON:0004111", + "UPHENO:0080377", + "UPHENO:0077426", + "HP:0008669", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0080369", + "HP:0000028", + "HP:0000811", + "GO:0000003", + "HP:0011024", + "UBERON:0011216", + "UBERON:0004175", + "HP:0004322", + "UPHENO:0087973", + "HP:0000035", + "UPHENO:0085873", + "UBERON:0002471", + "UPHENO:0081755", + "UBERON:0004489", + "UPHENO:0049985", + "UBERON:0005156", + "UPHENO:0078452", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "HP:0012243", + "CL:0000408", + "GO:0007283", + "UBERON:0000481", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UBERON:0004176", + "UBERON:0000991", + "UPHENO:0002598", "UPHENO:0086201", + "HP:0010944", + "UPHENO:0086023", "HP:0001510", - "UPHENO:0000543", - "UPHENO:0049874", - "UPHENO:0086049", - "UPHENO:0002948", - "UPHENO:0076779", - "UPHENO:0085344", - "UPHENO:0075902", - "HP:0001881", - "UPHENO:0009382", - "UPHENO:0085068", - "UPHENO:0087339", - "UPHENO:0053588", - "UPHENO:0063722", - "HP:0001872", - "UPHENO:0087355", - "UPHENO:0049873", - "HP:0005561", - "UPHENO:0084457", - "HP:0000951", - "HP:0000581", - "UPHENO:0002828", - "UPHENO:0081141", - "HP:0011873", - "HP:0020047", - "HP:0011893", - "HP:0032251", - "UPHENO:0085302", - "UPHENO:0085371", - "UPHENO:0085984", - "UPHENO:0086173", - "UPHENO:0069249", - "UPHENO:0080087", - "UPHENO:0076800", - "HP:0031816", + "UPHENO:0086198", + "UPHENO:0049367", + "UBERON:0004122", + "UPHENO:0002595", + "UBERON:0004053", + "UBERON:0000473", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "GO:0007276", + "UBERON:0000079", + "CL:0000586", + "HP:0000032", + "UBERON:0003606", + "UPHENO:0021561", + "UPHENO:0053298", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UPHENO:0002597", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "CL:0000413", + "CL:0000039", + "UPHENO:0046707", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "HP:0001507", "UPHENO:0080351", - "HP:0009122", + "GO:0010468", + "UPHENO:0000541", + "UPHENO:0076740", + "HP:0100871", + "HP:0000002", + "UPHENO:0049874", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0009127", + "HP:0002250", + "UBERON:0034929", + "UPHENO:0002655", + "UBERON:0000383", + "UPHENO:0081423", + "UBERON:0005409", + "UBERON:0008878", + "UBERON:0004481", + "HP:0011844", + "HP:0001227", + "UBERON:0034925", + "HP:0001421", + "GO:0032502", + "UPHENO:0002832", + "UPHENO:0063632", + "UBERON:0006048", + "UBERON:0007271", + "HP:0003011", + "UBERON:0007269", + "UBERON:0004480", + "UPHENO:0002411", + "HP:0012211", + "HP:0003774", + "HP:0002589", + "UPHENO:0063629", + "UPHENO:0076773", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0002725", + "HP:0011100", + "NCBITaxon:33154", + "HP:0012732", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0012718", + "HP:0025023", + "HP:0002034", + "NCBITaxon:1", ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", + "lower digestive tract", + "intestine", + "rectum", + "Metazoa", + "abnormal alimentary part of gastrointestinal system morphology", + "Rectal atresia", + "Abnormal intestine morphology", + "Abnormality of the gastrointestinal tract", + "large intestine", + "Morphological abnormality of the gastrointestinal tract", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal rectum", + "subdivision of tube", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "rectum atresia", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "Renal insufficiency", + "Intestinal atresia", + "non-functional kidney", + "Chronic kidney disease", + "abnormal musculature", + "Abnormality of the musculature of the hand", + "musculature of body", + "musculature", + "Abnormality of the thenar eminence", + "Abnormal palm morphology", + "Abnormality of the musculature of the upper limbs", + "musculature of upper limb", + "Abnormality of the musculature of the limbs", + "musculature of manus", + "abnormal musculature of limb", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "growth", + "Abnormality of body height", + "Renal cyst", + "intestine atresia", + "Proximal placement of thumb", + "deviation of manual digit", + "Short finger", + "Eumetazoa", + "Eukaryota", + "decreased length of manual digit", + "Short digit", + "decreased length of manual digit 1", + "sperm", + "thenar eminence hypoplasia", + "germ line cell", + "appendage musculature", + "haploid cell", + "abnormal reproductive system", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", "abnormally localised anatomical entity", + "reproductive organ", "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "abnormal number of anatomical enitites of type sperm", + "abnormal male reproductive system", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "male organism", "abnormal spermatogenesis", + "abnormal gamete", + "abnormal developmental process involved in reproduction", + "testis", + "internal male genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "male reproductive system", + "spermatogenesis", + "gamete generation", + "abnormal location of anatomical entity", + "reproduction", + "developmental process involved in reproduction", + "obsolete multicellular organism reproduction", + "abnormal number of anatomical enitites of type sperm", "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", "absent sperm in the independent continuant", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively developmental process", + "Abnormality of male external genitalia", + "semen", + "reproductive structure", + "organism substance", "absent gamete", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "changed developmental process rate", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "abnormal testis morphology", + "abnormally localised testis", + "gonad", + "abnormal number of anatomical enitites of type cell", + "external genitalia", + "developmental process", + "reproductive process", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", "Abnormal testis morphology", "Azoospermia", "Abnormality of the male genitalia", "abnormal multicellular organismal reproductive process", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Pelvic kidney", - "Abnormal cellular physiology", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Abnormality of the urinary system", - "shape anatomical entity", - "abnormal genitourinary system", - "Abnormality of the kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "shape kidney", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", "abnormality of reproductive system physiology", "absent sperm", - "Horseshoe kidney", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", - "Abnormality of body height", - "abnormal external nose morphology", - "Abnormality of the nose", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "increased size of the anatomical entity in independent continuant", - "decreased length of manual digit 1", - "Short digit", + "absent germ cell", + "changed biological_process rate", + "renal pelvis/ureter", + "abdominal segment of trunk", + "abdomen", + "Abnormal renal pelvis morphology", + "increased size of the renal pelvis", + "Abnormality of the upper urinary tract", + "Abnormality of the kidney", + "embryo", + "renal pelvis", + "organ part", + "sexual reproduction", + "abnormal genitourinary system", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "late embryo", + "abnormal musculature of upper limb", + "cavitated compound organ", + "Abnormal fetal genitourinary system morphology", + "Abnormal fetal morphology", + "abnormal renal pelvis", "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "abnormal mandible morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", + "anatomical cluster", + "disconnected anatomical group", + "increased size of the anatomical entity in independent continuant", + "abnormal renal system", + "Abnormal renal morphology", + "renal system", + "kidney", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "Abnormality of prenatal development or birth", + "abnormal renal system morphology", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "tube", + "digestive system", + "deviation of manual digit 1", + "digestive tract", "abnormal digestive system", - "aplasia or hypoplasia of mandible", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "Morphological central nervous system abnormality", - "abnormal facial skeleton morphology", - "Abnormality of brain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "aplasia or hypoplasia of telencephalon", - "Decreased head circumference", + "abnormal closing of the anatomical entity", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormal cardiovascular system morphology", + "body proper", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis", + "subdivision of organism along main body axis", "delayed growth", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Squamous cell carcinoma", - "abnormal integument", - "abnormal biological_process", - "Hyperpigmentation of the skin", - "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Abnormality of skin pigmentation", - "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Cafe-au-lait spot", - "Macule", + "abnormal cardiovascular system", + "Gastrointestinal atresia", + "trunk", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", + "circulatory organ", + "viscus", + "Abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", "aplasia or hypoplasia of anatomical entity", "Functional abnormality of male internal genitalia", "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "Short palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal digit", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "Abnormality of digestive system morphology", - "abnormal limb", - "Abnormal appendicular skeleton morphology", - "abnormal head", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "abnormal bone marrow morphology", + "autopodial extension", + "abnormality of internal male genitalia physiology", + "organism subdivision", + "anatomical entity hypoplasia in independent continuant", + "abnormal forelimb morphology", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", + "abnormal cell", + "Abnormality of limbs", "increased size of the anatomical entity", - "Abnormal nervous system morphology", "abnormal limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "increased qualitatively biological_process in independent continuant", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "absent anatomical entity", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "abnormal forebrain morphology", - "absent germ cell", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of skull size", - "abnormal face morphology", - "Limb undergrowth", - "abnormal platelet", - "abnormal reproductive system", - "Abnormality of head or neck", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "terminal part of digestive tract", + "absent anatomical entity in the limb", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "radius endochondral element", + "abnormal arm", + "absent anatomical entity in the forelimb", + "forelimb zeugopod bone", + "abnormal forelimb zeugopod bone", "abnormal limb morphology", + "forelimb zeugopod skeleton", + "palmar part of manus", "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "absent digit", - "quality", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormality of the skin", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "abnormal sensory perception", - "abnormal manus", - "Finger aplasia", - "abnormal skull morphology", - "Abnormal platelet morphology", - "mandible hypoplasia", - "phenotype by ontology source", - "aplastic manual digit 1", - "Aplasia/Hypoplasia of the thumb", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "abnormal arm", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "decreased biological_process", - "Short stature", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased length of palpebral fissure", - "abnormal blood cell", - "abnormal pigmentation", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "decreased height of the multicellular organism", - "Short long bone", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Abnormality of the head", - "Neoplasm of the skin", - "decreased length of long bone", + "anatomical entity", "abnormal radius bone morphology", - "abnormal face", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Aplasia/Hypoplasia of the radius", - "anatomical entity hypoplasia in independent continuant", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "phenotype", - "Abnormal cell morphology", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "limb endochondral element", + "abnormal appendicular skeleton morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "acropodium region", + "Hypoplasia of the radius", + "paired limb/fin", + "alimentary part of gastrointestinal system", + "muscle organ", "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", "abnormal anatomical entity length", - "abnormal palpebral fissure", - "abnormally decreased number of cell", + "regulation of macromolecule biosynthetic process", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", "absent sperm in the semen", + "Hydronephrosis", "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", "abnormal cellular metabolic process", "abnormal bone of pectoral complex morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "abnormal limb long bone morphology", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "changed biological_process rate in independent continuant", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", + "phenotype by ontology source", + "Non-obstructive azoospermia", + "regulation of cellular biosynthetic process", + "biological regulation", + "Abnormal thumb morphology", + "Abnormal upper limb bone morphology", + "aplasia or hypoplasia of skeleton", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", + "genitourinary system", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "male gamete generation", + "skeleton", + "decreased height of the multicellular organism", + "Short long bone", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormality of renal system physiology", + "quality", + "regulation of gene expression", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "negative regulation of gene expression", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "continuant", + "cellular metabolic process", "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormal erythrocyte morphology", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "metabolic process", + "Small thenar eminence", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "abnormal cellular process", + "Abnormal long bone morphology", + "limb skeleton subdivision", + "Upper limb undergrowth", + "limb", + "Abnormality of the upper limb", + "cell", + "abnormal growth", + "independent continuant", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "abnormal intestine morphology", + "aplastic manual digit 1", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "Abnormal appendicular skeleton morphology", + "material entity", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "Abnormal cellular physiology", + "organic substance metabolic process", + "organ", + "occurrent", + "upper limb segment", + "appendicular skeleton", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", "aplasia or hypoplasia of radius bone", - "decreased size of the mandible", + "pectoral appendage musculature", + "abnormal metabolic process", + "external male genitalia", + "chromatin organization", + "muscle structure", + "material anatomical entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", + "programmed DNA elimination", + "digit", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", "abnormal anatomical entity", "Abnormal forearm morphology", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased spermatogenesis", - "abnormal kidney morphology", - "decreased width of the palpebral fissure", - "Abnormality of the palpebral fissures", + "appendage girdle complex", + "macromolecule metabolic process", + "thenar eminence", + "Abnormality of digestive system morphology", + "abnormal limb", + "manus", + "abnormal biological_process", + "abnormal thenar eminence", + "abdominal segment element", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "biological_process", + "phenotype", + "obsolete nitrogen compound metabolic process", + "radius bone hypoplasia", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "subdivision of organism along appendicular axis", + "deviation of anatomical entity", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "obsolete cellular aromatic compound metabolic process", + "absent digit", + "nucleobase-containing compound metabolic process", + "Abnormal external genitalia", + "negative regulation of biological process", "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormal eyelid morphology", - "abnormal hematopoietic system", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", + "regulation of cellular process", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "abnormal long bone morphology", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "Limb undergrowth", + "Aplasia/Hypoplasia of the radius", + "subdivision of skeleton", + "endochondral bone", "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal ocular adnexa", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Narrow palpebral fissure", - "decreased height of the anatomical entity", - "Abnormality of the face", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Growth delay", - "abnormal cell", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Pancytopenia", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Anemia", - "abnormal bone marrow cell", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Aplasia/Hypoplasia of the mandible", + "forelimb zeugopod bone hypoplasia", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal upper urinary tract", + "musculoskeletal system", + "skeletal system", + "primary metabolic process", + "decreased length of long bone", + "Abnormality of the urinary system", + "forelimb bone", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal skeletal system", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "Abnormality of the anus", + "organ system subdivision", + "trunk region element", + "pectoral complex", + "abnormal size of multicellular organism", + "bone element", + "Opisthokonta", + "paired limb/fin segment", + "endochondral element", + "multi-limb segment region", + "abnormal limb bone morphology", + "root", + "appendage", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "decreased size of the anatomical entity in the independent continuant", + "system", + "aplasia or hypoplasia of manual digit 1", + "anatomical system", + "anal region", + "paired limb/fin skeleton", + "zeugopod", + "skeletal element", + "abnormal heart morphology", + "skeleton of limb", + "multicellular anatomical structure", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "forelimb long bone", "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Abnormality of the digestive system", - "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "abnormal mouth morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "bone element hypoplasia in face", + "manual digit 1", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "segment of manus", + "pectoral appendage skeleton", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "manual digitopodium region", + "Finger aplasia", + "Neoplasm", + "manual digit 1 or 5", + "manual digit 1 plus metapodial segment", + "organism", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "Abnormality of the hand", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "primary circulatory organ", + "digit 1 or 5", + "Abnormal finger morphology", + "anterior region of body", + "aplastic anatomical entity", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "cellular process", + "Abnormal digit morphology", + "digit 1 plus metapodial segment", + "agenesis of anatomical entity", + "digit plus metapodial segment", + "absent anatomical entity", + "Short thumb", + "abnormal manual digit 1 morphology", + "abnormal digit morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", + "skeleton of manus", + "radius bone", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "heart", ], - "has_phenotype_count": 20, + "has_phenotype_count": 15, "highlight": None, "score": None, }, @@ -7025,7 +11335,7 @@ def autocomplete(): "full_name": None, "deprecated": None, "description": None, - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -7062,35 +11372,6 @@ def autocomplete(): "HP:0004322", "HP:0003126", "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", ], "has_phenotype_label": [ "Osteomalacia", @@ -7109,673 +11390,709 @@ def autocomplete(): "Short stature", "Low-molecular-weight proteinuria", "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", ], "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", - "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", - "UPHENO:0068442", - "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", + "CHEBI:32988", + "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:37622", + "CHEBI:16670", + "UPHENO:0081424", + "UPHENO:0069254", + "UPHENO:0020584", + "UPHENO:0049874", + "UPHENO:0075159", + "UPHENO:0000541", + "UPHENO:0086132", + "UPHENO:0075195", + "GO:0040007", + "CHEBI:33608", + "UPHENO:0068144", + "CHEBI:35605", + "UPHENO:0068169", + "UPHENO:0068040", + "CHEBI:36587", + "CHEBI:24651", "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33575", + "UPHENO:0068495", + "CHEBI:33709", + "HP:0003355", + "UPHENO:0068538", + "UPHENO:0046286", + "CHEBI:35352", + "UPHENO:0082943", + "HP:0012379", + "UPHENO:0068971", + "CHEBI:33695", + "CHEBI:33694", + "CHEBI:51143", + "HP:0004379", + "UPHENO:0075666", "UPHENO:0081777", - "UPHENO:0066927", + "CHEBI:50047", + "UPHENO:0046362", + "PR:000018263", + "CHEBI:33285", + "UPHENO:0080658", + "CHEBI:18133", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:17234", + "CHEBI:36962", + "HP:0020129", + "UPHENO:0046348", + "CHEBI:15693", "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", - "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", - "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", - "UPHENO:0002816", - "HP:0001824", - "UPHENO:0034253", - "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", - "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", + "UPHENO:0066927", + "CHEBI:33259", + "UPHENO:0078554", + "UPHENO:0002332", + "UPHENO:0077821", + "CHEBI:36357", + "CHEBI:24870", + "UBERON:0000064", + "GO:0050801", + "GO:0048878", "HP:0002148", - "UPHENO:0050121", + "CHEBI:23367", + "UPHENO:0076289", + "HP:0001324", + "HP:0000083", + "GO:0032501", + "HP:0011804", + "HP:0001507", + "CHEBI:37577", + "HP:0001510", + "HP:0003109", + "HP:0012591", + "HP:0000079", + "UPHENO:0068511", + "BFO:0000002", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", "UPHENO:0046283", "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", - "HP:0003111", - "HP:0000079", - "HP:0004379", + "CHEBI:36963", + "UPHENO:0051186", + "UPHENO:0068054", + "UBERON:8450002", + "UBERON:0001088", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "CHEBI:25806", + "HP:0032943", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "CHEBI:60004", + "HP:0001942", "HP:0004360", "UPHENO:0051640", "UPHENO:0081546", - "UPHENO:0079822", - "UPHENO:0050539", - "HP:0011849", - "UPHENO:0048707", - "HP:0012211", - "UPHENO:0051847", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", - "UPHENO:0002964", - "UPHENO:0084653", - "UPHENO:0002320", - "HP:0430071", + "UPHENO:0034391", + "UPHENO:0024906", + "HP:0003011", + "HP:0012337", + "HP:0001871", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "HP:0004348", + "UPHENO:0052008", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", "UPHENO:0082835", - "UPHENO:0068040", - "HP:0100529", - "UPHENO:0001005", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0051686", - "UPHENO:0001002", - "UPHENO:0046284", + "CHEBI:64709", + "UPHENO:0079536", + "UBERON:0003914", + "UPHENO:0051937", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "CHEBI:23906", + "HP:0002749", + "UPHENO:0002320", + "UPHENO:0084653", "UPHENO:0068110", - "HP:0001947", - "UPHENO:0051645", - "UPHENO:0020748", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", + "UBERON:0003103", + "UBERON:0001231", + "UBERON:0004111", + "GO:0070293", + "UPHENO:0001005", + "HP:0040156", + "CHEBI:26020", + "UBERON:0000463", + "GO:0001503", + "UBERON:0000062", "HP:0000093", - "HP:0000001", - "HP:0004348", - "UPHENO:0082834", - "HP:0003774", - "UPHENO:0080659", - "UPHENO:0051668", - "UPHENO:0052116", - "HP:0000924", - "HP:0003330", - "HP:0010930", - "UPHENO:0046348", - "HP:0020129", - "HP:0000077", + "GO:0055062", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "UBERON:0002417", + "CHEBI:22314", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "HP:0011849", + "UPHENO:0048707", + "GO:0003008", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0051280", + "UBERON:0001015", + "CHEBI:36080", + "UBERON:0006314", + "CHEBI:37247", + "HP:0000118", + "GO:0008152", + "UPHENO:0086128", + "UPHENO:0049587", + "GO:0042592", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082539", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", "UPHENO:0068089", - "UPHENO:0051937", - "HP:0002749", - "UPHENO:0001001", - "UPHENO:0081440", - "UPHENO:0086908", - "HP:0012599", + "HP:0003330", + "UBERON:0011216", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:28358", + "UBERON:0002100", + "CHEBI:33504", + "UBERON:0001434", + "UPHENO:0001003", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "BFO:0000015", + "UBERON:0000467", + "UBERON:0004765", "UPHENO:0075696", "HP:0011842", - "HP:0002150", + "UBERON:0001630", "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", - "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", + "UPHENO:0001001", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0080555", + "UBERON:0000178", + "UPHENO:0068094", + "UPHENO:0076692", + "UPHENO:0002536", + "CHEBI:33238", + "UPHENO:0049628", "HP:0001939", + "CHEBI:35381", + "UBERON:0001062", + "CHEBI:72695", "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", - "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", + "UPHENO:0081550", + "GO:0008150", + "UPHENO:0051763", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:33250", + "UBERON:0002113", + "CHEBI:26082", + "CHEBI:33241", "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", + "CHEBI:36359", + "UPHENO:0049904", + "HP:0100529", + "UPHENO:0034217", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", + "UBERON:0004120", + "CHEBI:33675", + "UBERON:0002193", + "CHEBI:33302", + "CHEBI:16646", + "HP:0000124", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "UBERON:0004819", + "UPHENO:0002816", + "UBERON:0011143", "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", - "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", - "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", - "HP:0003355", - "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0009773", + "UPHENO:0068352", + "UPHENO:0051847", + "UBERON:0005177", + "UBERON:0005173", + "UPHENO:0002411", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", "HP:0001992", - "HP:0002086", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", - "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", - "UPHENO:0050116", - "HP:0012606", - "HP:0001941", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0051709", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "UBERON:0011676", + "UBERON:0009569", + "GO:0003014", + "UBERON:0005172", + "CHEBI:78616", + "HP:0000077", + "UBERON:0004122", + "HP:0010935", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "HP:0010929", + "UPHENO:0051898", + "PR:000000001", + "UPHENO:0034199", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068247", + "GO:0055067", + "CHEBI:26217", + "UPHENO:0034438", + "UPHENO:0051958", + "CHEBI:25213", "HP:0003648", + "HP:0001941", "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", - "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", - "UPHENO:0051712", - "UPHENO:0049587", - "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616", + "CHEBI:29103", + "CHEBI:33296", + "HP:0000002", + "HP:0033354", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0080659", + "UPHENO:0051645", + "HP:0003126", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "HP:0034359", + "UBERON:0000383", + "UPHENO:0051635", + "CHEBI:33674", + "UPHENO:0068058", + "CHEBI:50860", ], "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", - "Pain", - "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "increased level of protein polypeptide chain in urine", + "carboxamide", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "peptide", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "abnormal anatomical entity morphology in the independent continuant", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Growth abnormality", + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", - "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", - "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "increased level of nitrogen molecular entity in independent continuant", + "molecule", "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", + "amino acid", + "increased level of carboxylic acid in independent continuant", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of protein", + "nitrogen molecular entity", + "protein", + "Abnormal circulating enzyme concentration or activity", + "organic amino compound", + "alkaline phosphatase, tissue-nonspecific isozyme", + "macromolecule", + "organooxygen compound", + "heteroorganic entity", + "increased level of organic molecular entity in independent continuant", "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", + "monoatomic ion", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", + "decreased size of the anatomical entity", + "blood", + "inorganic ion", "abnormal homeostatic process", "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", + "main body axis", + "polypeptide", "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", + "anatomical structure", + "anatomical conduit", + "abnormal renal absorption", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", + "increased independent continuant base level", + "muscle organ", "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", - "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", - "Abnormality of urine homeostasis", + "rac-lactic acid", + "abnormality of anatomical entity height", + "metal atom", + "abnormal blood potassium atom level", + "increased level of rac-lactic acid in urine", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "chemical substance", "Aciduria", "Abnormality of the urinary system", "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", - "abnormality of renal system physiology", - "quality", - "abnormal amino-acid betaine level", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", - "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", - "abnormal cell", + "phosphate ion homeostasis", + "racemate", "increased level of chemical entity in urine", "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", + "abnormal chemical homeostasis", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "heteroatomic molecular entity", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "potassium atom", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", + "process", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "Metabolic acidosis", + "All", + "material entity", + "Acidosis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "Phenotypic abnormality", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", + "increased level of chemical entity in independent continuant", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", "Abnormal bone structure", + "anatomical system", + "potassium(1+)", "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "homeostatic process", + "Abnormal enzyme concentration or activity", "Abnormal muscle physiology", "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "organochalcogen compound", + "abnormal anatomical entity", + "renal system", + "phenotype", + "hydrogen molecular entity", + "nephron tubule", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "decreased level of potassium atom in blood", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "abnormal urine glucose level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", + "main group element atom", + "skeletal system", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "genitourinary system", + "atom", + "renal tubule", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system process", + "multicellular anatomical structure", + "pnictogen molecular entity", + "obsolete monovalent inorganic cation homeostasis", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal genitourinary system", "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", + "organ system subdivision", "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", - "delayed biological_process", + "bone element", "abnormal growth", - "abnormal blood uric acid level", - "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", + "independent continuant", + "abnormality of muscle organ physiology", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "occurrent", + "organ", + "chemical homeostasis", + "increased independent continuant acid level", + "chemical entity", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "abnormal biological_process", + "abnormal role bodily fluid level", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "inorganic cation", + "increased level of chemical entity", + "renal absorption", + "carbon group molecular entity", + "metabolic process", + "material anatomical entity", + "muscle structure", + "Abnormality of the urinary system physiology", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "polyatomic entity", + "ion", + "phosphorus molecular entity", + "trunk", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "multicellular organismal process", + "abnormal blood phosphate level", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "Elevated circulating alkaline phosphatase concentration", + "abnormality of kidney physiology", + "main group molecular entity", + "biomacromolecule", + "p-block molecular entity", + "haemolymphatic fluid", + "Renal tubular dysfunction", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "carbohydrates and carbohydrate derivatives", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "nephron epithelium", + "uriniferous tubule", + "musculoskeletal system", + "abnormal upper urinary tract", + "organism subdivision", + "hematopoietic system", + "multicellular organism", + "Impaired renal tubular reabsorption of phosphate", + "excretory tube", + "lateral structure", + "trunk region element", + "Abnormality of the kidney", + "abdomen", + "subdivision of organism along main body axis", + "chalcogen molecular entity", + "Abnormal renal physiology", + "abnormal kidney", + "increased level of glucose in urine", + "body proper", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "oxoacid derivative", + "increased level of phosphate in urine", + "Abnormal blood cation concentration", + "abnormal blood potassium(1+) level", + "musculature", + "decreased role blood level", + "monovalent inorganic cation", + "abnormal role independent continuant level", + "metal cation", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "s-block element atom", + "s-block molecular entity", "Hypokalemia", - "Decreased circulating purine concentration", + "Abnormal blood monovalent inorganic cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "elemental potassium", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "abnormal phosphate level", + "decreased level of chemical entity", + "system process", + "abnormal independent continuant amino acid level", + "renal system process", + "anatomical entity", + "Abnormal renal tubular resorption", + "abnormal independent continuant chemical entity level", + "Abnormality of renal excretion", + "increased level of glucose in independent continuant", + "monosaccharide", + "organic molecular entity", + "oxygen molecular entity", ], - "has_phenotype_count": 39, + "has_phenotype_count": 16, "highlight": None, "score": None, }, @@ -7829,363 +12146,676 @@ def autocomplete(): ], "has_phenotype_closure": [ "UPHENO:0012541", + "HP:0001510", "UPHENO:0000543", - "HP:0004322", + "UPHENO:0081424", + "UPHENO:0049874", "HP:0000002", + "GO:0040007", "HP:0001507", - "UPHENO:0068971", - "UPHENO:0081423", - "UPHENO:0088162", + "CL:0000329", + "HP:0012130", "HP:0001877", - "HP:0001903", - "UPHENO:0088170", - "HP:0011017", + "UPHENO:0088162", + "CL:0000764", "UPHENO:0078606", - "UPHENO:0049587", - "UPHENO:0050116", + "HP:0003220", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:1901360", + "GO:0043170", + "GO:0006139", + "GO:0046483", + "GO:0010629", "UPHENO:0050021", + "UPHENO:0050845", "UPHENO:0050121", + "GO:0010468", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "HP:0003221", "UPHENO:0049990", - "HP:0001510", - "UPHENO:0049873", + "GO:0005623", + "GO:0031049", + "GO:0071840", "UPHENO:0049748", - "HP:0040012", - "HP:0003220", - "UPHENO:0077826", - "UPHENO:0081547", - "HP:0004364", - "UPHENO:0051801", - "UPHENO:0048751", - "UPHENO:0077821", - "UPHENO:0051680", - "HP:0010876", - "UPHENO:0046284", - "UPHENO:0088318", - "UPHENO:0084928", - "UPHENO:0085195", - "BFO:0000002", - "UPHENO:0085076", - "UPHENO:0077813", - "UPHENO:0085984", - "UPHENO:0085371", - "HP:0032251", - "HP:0020047", - "HP:0011893", - "UPHENO:0049700", - "UPHENO:0085330", - "UPHENO:0022529", - "UPHENO:0051936", - "UPHENO:0075220", - "UPHENO:0049874", - "UPHENO:0086049", - "BFO:0000001", - "UPHENO:0035025", - "UPHENO:0088321", - "UPHENO:0085068", - "HP:0001939", - "UPHENO:0088335", + "GO:0031052", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", "UPHENO:0050113", - "HP:0000929", - "HP:0005528", + "CHEBI:36963", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "UBERON:0002204", + "HP:0000240", + "UBERON:0000475", + "HP:0025354", + "UPHENO:0082943", + "PATO:0000001", + "HP:0000152", + "UPHENO:0086016", + "NCBITaxon:2759", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "HP:0004322", + "UBERON:0003129", + "HP:0002060", + "CL:0000988", + "UPHENO:0081435", + "HP:0010987", + "HP:0000924", + "GO:0016043", + "HP:0002011", + "HP:0012145", + "UPHENO:0081566", + "HP:0006254", + "UBERON:0000062", + "GO:0044237", + "HP:0002977", + "GO:0071704", + "CL:0000219", + "UBERON:0007811", + "CL:0000738", + "CL:0000255", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UBERON:0011676", + "UBERON:0000061", + "UPHENO:0049587", + "UPHENO:0002844", + "UPHENO:0001002", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", + "UPHENO:0085344", + "HP:0001881", "HP:0032309", - "UPHENO:0080351", + "UPHENO:0001003", + "UPHENO:0051612", + "UPHENO:0085189", + "UPHENO:0076805", + "HP:0025461", + "GO:0034641", + "HP:0011893", + "UPHENO:0084928", + "UPHENO:0088318", + "UPHENO:0087123", + "UPHENO:0087089", "UPHENO:0020584", - "UPHENO:0076799", - "UPHENO:0006910", + "UPHENO:0085356", + "CL:0002242", + "GO:0010556", + "PR:000050567", + "UPHENO:0085076", + "BFO:0000003", "UPHENO:0051804", + "GO:0006807", + "UPHENO:0006910", "HP:0012639", - "UPHENO:0085144", - "UPHENO:0086045", - "UPHENO:0086016", - "HP:0003221", - "UPHENO:0085356", - "UPHENO:0076702", - "UPHENO:0085302", - "UPHENO:0085344", - "HP:0001881", - "HP:0000707", - "UPHENO:0088176", - "UPHENO:0002948", - "UPHENO:0000541", - "UPHENO:0086005", - "HP:0000118", - "UPHENO:0076675", - "UPHENO:0085042", - "UPHENO:0004523", - "HP:0002715", - "UPHENO:0085118", - "HP:0010974", - "HP:0012443", - "PATO:0000001", - "UPHENO:0004459", - "UPHENO:0076286", - "UPHENO:0077426", - "HP:0001871", + "BFO:0000002", + "UPHENO:0086019", + "UPHENO:0011498", + "UPHENO:0077822", + "UBERON:0004120", + "HP:0000001", + "HP:0011842", "UPHENO:0075696", + "HP:0001871", + "UPHENO:0077426", "HP:0001875", - "UPHENO:0076289", - "UPHENO:0086172", + "UPHENO:0075195", + "CL:0000766", + "HP:0040195", "UPHENO:0001005", - "HP:0000001", - "UPHENO:0077822", - "UPHENO:0086019", - "UPHENO:0011498", - "UPHENO:0081424", + "CHEBI:24431", + "UBERON:0000468", + "UPHENO:0085984", + "CHEBI:51143", + "HP:0012443", + "UBERON:0034923", + "HP:0002715", + "UPHENO:0085118", "HP:0009121", - "UPHENO:0085354", - "UPHENO:0088166", "UPHENO:0076703", - "UPHENO:0001003", - "HP:0045056", - "UPHENO:0015280", - "UPHENO:0086176", - "HP:0032180", + "BFO:0000001", + "UPHENO:0088166", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0085354", + "PR:000018263", + "UPHENO:0085371", + "CL:0000457", + "UPHENO:0046362", + "HP:0007364", + "CL:0000094", + "UPHENO:0088338", + "HP:0000234", + "UPHENO:0002948", + "CHEBI:33256", + "HP:0000118", + "UBERON:0000033", + "UBERON:0000178", + "UPHENO:0002536", + "NCBITaxon:33208", + "UPHENO:0076692", + "GO:0065007", + "HP:0010974", + "UPHENO:0085070", "UPHENO:0063722", "HP:0001872", - "UPHENO:0050845", - "HP:0430071", - "HP:0011991", + "HP:0032180", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0011875", + "GO:0050789", + "UBERON:0013701", + "UBERON:0011137", "BFO:0000020", - "UPHENO:0002536", - "HP:0040195", - "UPHENO:0075195", - "UPHENO:0086173", - "UPHENO:0001001", - "UPHENO:0076791", - "HP:0007364", - "UPHENO:0051668", - "HP:0002977", - "UPHENO:0087907", + "HP:0011991", + "UPHENO:0085042", + "HP:0430071", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0049700", "HP:0001911", + "UPHENO:0085405", "UPHENO:0002764", - "HP:0001874", - "UPHENO:0076805", - "HP:0033127", - "UPHENO:0087123", - "UPHENO:0087089", - "HP:0011842", - "HP:0000240", + "HP:0000252", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0088321", + "BFO:0000040", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0032251", + "HP:0040012", + "UPHENO:0086005", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0011216", + "UPHENO:0086045", + "UBERON:0010323", + "CL:0000000", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", + "UPHENO:0001001", "UPHENO:0086589", - "HP:0012145", - "HP:0002011", - "UPHENO:0088338", - "HP:0000234", - "UPHENO:0020888", + "UPHENO:0076791", + "CHEBI:37622", + "CL:0000775", + "UBERON:0000075", + "UPHENO:0051680", + "UBERON:0010000", + "UBERON:0002390", + "CHEBI:15841", + "UBERON:0004121", + "UPHENO:0088335", + "GO:0006996", + "HP:0001939", + "GO:0031326", + "UBERON:0002090", + "CHEBI:23367", "UPHENO:0069254", - "HP:0002060", - "HP:0000152", - "HP:0010987", - "HP:0000924", - "UPHENO:0081435", - "UPHENO:0080079", - "HP:0001873", - "HP:0000252", + "UPHENO:0075220", + "UPHENO:0051936", + "OBI:0100026", "UPHENO:0087518", + "UPHENO:0075159", "HP:0100547", - "UPHENO:0046378", - "UPHENO:0002964", - "UPHENO:0001002", - "UPHENO:0002844", - "HP:0025461", - "UPHENO:0085189", + "UPHENO:0076799", + "UBERON:0000481", + "GO:0006725", + "UBERON:0001893", "UPHENO:0080200", - "HP:0006254", - "UPHENO:0081566", + "UBERON:0001890", + "UPHENO:0087907", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "NCBITaxon:33154", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", + "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "NCBITaxon:131567", + "UBERON:0001434", + "CL:0000225", + "UBERON:0010912", + "HP:0000929", + "UBERON:0000955", + "UBERON:0000073", + "NCBITaxon:6072", + "UPHENO:0086173", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", "HP:0011873", - "UPHENO:0051612", - "UPHENO:0080352", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0085405", - "HP:0011875", - "UPHENO:0075159", - "UPHENO:0087339", + "CL:0000151", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0085302", + "UPHENO:0051668", + "CHEBI:33579", "UPHENO:0087355", + "UPHENO:0049873", + "UBERON:0000153", "HP:0005561", - "HP:0025354", - "UPHENO:0082943", + "UPHENO:0087339", + "UPHENO:0085195", + "GO:0006259", + "UBERON:0001474", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0035025", + "UBERON:0000479", + "HP:0005528", + "HP:0020047", + "CL:0002092", + "UBERON:0002371", + "UPHENO:0046284", + "UPHENO:0085330", + "GO:0008152", + "CHEBI:33839", + "CHEBI:16670", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "UPHENO:0077826", + "PR:000003809", + "UPHENO:0076289", + "CHEBI:50047", + "UBERON:0006314", + "CHEBI:36080", "UPHENO:0051763", - "UPHENO:0084987", - "UPHENO:0048707", - "HP:0012130", - "UPHENO:0046362", + "UBERON:0001016", + "CHEBI:36357", + "UPHENO:0077821", + "UBERON:0000463", + "CHEBI:50860", + "CHEBI:25806", + "HP:0004364", + "HP:0010876", + "CHEBI:33694", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UPHENO:0051801", + "BFO:0000015", + "UBERON:0002616", + "UPHENO:0048751", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:33675", + "UPHENO:0046378", + "NCBITaxon:1", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", ], "has_phenotype_closure_label": [ - "abnormal growth", - "decreased size of the multicellular organism", - "delayed biological_process", + "delayed growth", + "decreased height of the anatomical entity", + "abnormality of multicellular organism height", "Growth delay", "abnormality of anatomical entity height", - "abnormality of multicellular organism height", + "Short stature", + "decreased size of the multicellular organism", + "delayed biological_process", + "decreased height of the multicellular organism", "Abnormality of body height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "Abnormality of chromosome stability", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", "Abnormal erythrocyte morphology", - "Abnormal cellular physiology", - "abnormal biological_process", - "abnormal primary metabolic process", - "abnormal protein level", - "abnormal independent continuant protein polypeptide chain level", - "abnormal cellular metabolic process", - "increased level of alpha-fetoprotein", - "increased level of chemical entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood nitrogen molecular entity level", - "abnormal role bodily fluid level", - "abnormal blood alpha-fetoprotein level", - "abnormally decreased number of anatomical entity in the independent continuant", - "Neutropenia", - "abnormal blood chemical entity level", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "abnormal erythrocyte morphology", - "Elevated circulating alpha-fetoprotein concentration", - "abnormally decreased number of anatomical entity", - "Abnormality of the immune system", - "Abnormal leukocyte count", - "abnormal granulocyte morphology", - "delayed growth", - "Decreased head circumference", - "abnormal DNA metabolic process", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of myeloid cell", - "Abnormal circulating alpha-fetoprotein concentration", - "abnormal alpha-fetoprotein level", - "abnormal central nervous system morphology", - "aplasia or hypoplasia of anatomical entity", - "abnormal immune system", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "Abnormal cerebral morphology", - "abnormal independent continuant protein level", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of skull size", - "Abnormality of neutrophils", - "abnormally decreased number of cell in the independent continuant", - "phenotype", - "quality", - "Growth abnormality", - "abnormal cellular process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal craniocervical region", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "Short stature", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal head morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "abnormal neutrophil", - "Abnormal cell morphology", - "abnormal myeloid leukocyte morphology", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal cellular component organization", - "specifically dependent continuant", - "Abnormal circulating organic compound concentration", - "abnormal immune system morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "Thrombocytopenia", - "Abnormal forebrain morphology", - "Anemia", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "abnormal cellular metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "abnormal cellular component organization", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "cellular component organization", + "regulation of biological process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular component organization or biogenesis", + "abnormal primary metabolic process", + "programmed DNA elimination", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "abnormal anatomical entity morphology in the brain", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "Microcephaly", + "Aplasia/Hypoplasia involving the central nervous system", + "cellular organisms", + "polyatomic entity", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "regional part of nervous system", + "forebrain", + "abnormal craniocervical region morphology", + "subdivision of skeleton", + "Abnormality of brain morphology", + "skull", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the skeletal system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "multi-tissue structure", + "immune system", + "myeloid cell", + "hematopoietic cell", + "eukaryotic cell", + "organism", + "anatomical system", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "organic molecular entity", + "aplasia or hypoplasia of anatomical entity", "Abnormality of the head", - "abnormal phenotype by ontology source", - "Abnormal cellular phenotype", - "phenotype by ontology source", - "abnormal leukocyte morphology", - "abnormally decreased number of cell", - "abnormal cell", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "cranial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", + "abnormal immune system morphology", + "Eukaryota", + "Eumetazoa", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "nitrogen molecular entity", + "chromatin organization", "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic system", - "entity", - "Abnormality of blood and blood-forming tissues", - "abnormal cell morphology", - "abnormal size of skull", - "abnormally decreased number of hematopoietic cell", - "abnormal head", - "abnormal bone marrow morphology", + "abnormal cell", + "oxygen accumulating cell", + "protein", + "abnormally decreased number of cell", + "oxygen molecular entity", + "skeleton", + "bone marrow", + "neutrophil", + "cell", + "Morphological central nervous system abnormality", + "root", + "organonitrogen compound", + "chemical entity", "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "Abnormal myeloid cell morphology", + "Abnormal granulocyte morphology", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal skull morphology", + "increased level of protein", + "mesoderm-derived structure", + "macromolecule", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "quality", + "Abnormal cell morphology", + "phenotype", + "anatomical entity", + "anatomical structure", + "organism subdivision", "abnormally decreased number of leukocyte in the independent continuant", + "abnormal hematopoietic cell morphology", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "brain", "abnormal anatomical entity morphology in the independent continuant", "Abnormal neutrophil count", + "Abnormality of neutrophils", + "Abnormality of skull size", + "multicellular anatomical structure", + "skeletal system", + "motile cell", + "abnormally decreased number of hematopoietic cell", + "pnictogen molecular entity", + "Elevated circulating alpha-fetoprotein concentration", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "abnormal alpha-fetoprotein level", + "material entity", + "organic amino compound", + "Abnormal cellular phenotype", + "abnormal phenotype by ontology source", + "erythrocyte", + "organ system subdivision", "abnormal blood cell", - "All", - "continuant", - "abnormal craniocervical region morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal cellular immune system morphology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "abnormal telencephalon morphology", - "Abnormal leukocyte morphology", - "abnormal brain morphology", - "Abnormal skull morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "Abnormal circulating metabolite concentration", - "Abnormality of head or neck", - "Morphological central nervous system abnormality", - "decreased height of the multicellular organism", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "abnormal postcranial axial skeleton morphology", + "disconnected anatomical group", + "abnormal hematopoietic system", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal immune system", + "abnormally decreased number of cell in the independent continuant", + "Neutropenia", "abnormal number of anatomical enitites of type neutrophil", "abnormal nervous system", - "abnormal bone marrow cell", - "abnormal chromatin organization", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", + "nucleate cell", + "postcranial axial skeletal system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "abnormal growth", + "independent continuant", + "abnormal leukocyte morphology", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "non-connected functional system", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormal DNA metabolic process", + "blood cell", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "anatomical collection", + "All", + "abnormal granulocyte morphology", + "abnormal craniocervical region", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "anucleate cell", + "regulation of cellular biosynthetic process", + "biological regulation", + "hematopoietic system", + "multicellular organism", + "primary amide", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "granulocyte", + "hemolymphoid system", + "abnormal blood alpha-fetoprotein level", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of head or neck", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "central nervous system", + "regional part of brain", + "nervous system", + "musculoskeletal system", + "craniocervical region", + "haemolymphatic fluid", "decreased size of the anatomical entity", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "Abnormality of the skeletal system", + "blood", + "axial skeletal system", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", "abnormal skeletal system", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "abnormal bone marrow morphology", + "subdivision of organism along main body axis", + "main body axis", + "regulation of macromolecule biosynthetic process", + "abnormally decreased number of granulocyte", + "Abnormal circulating metabolite concentration", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "abnormal erythroid lineage cell morphology", - "increased level of protein", - "abnormal skull morphology", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", + "Metazoa", + "abnormal biological_process", + "abnormal role bodily fluid level", + "abnormal size of skull", + "Decreased head circumference", + "abnormal telencephalon morphology", + "body proper", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "amino acid chain", + "Opisthokonta", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", "abnormally decreased number of platelet", "abnormal number of anatomical enitites of type platelet", - "abnormal platelet morphology", - "Abnormal platelet count", "abnormal platelet", - "Abnormality of thrombocytes", + "Anemia", + "abnormal bone marrow cell", + "negative regulation of cellular metabolic process", "abnormal bone marrow cell morphology", - "Bone marrow hypocellularity", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", "Abnormality of bone marrow cell morphology", + "bone cell", + "polypeptide", "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type anatomical entity", + "Bone marrow hypocellularity", + "skeletal element", + "Abnormal cellular physiology", + "organic substance metabolic process", + "increased level of chemical entity", + "metabolic process", + "continuant", + "protein polypeptide chain", + "peptide", "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "chalcogen molecular entity", + "abnormal independent continuant alpha-fetoprotein level", + "abnormal independent continuant protein level", "abnormal role blood level", "Abnormality of metabolism/homeostasis", + "abnormal blood nitrogen molecular entity level", + "organ", + "occurrent", + "organism substance", + "bodily fluid", + "Abnormal platelet morphology", + "heteroorganic entity", + "alpha-fetoprotein", + "DNA metabolic process", + "carboxamide", + "increased level of alpha-fetoprotein", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "abnormal role independent continuant level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "p-block molecular entity", + "biomacromolecule", + "abnormal chemical entity level", + "Abnormal circulating alpha-fetoprotein concentration", "abnormal multicellular organism chemical entity level", + "entity", + "subdivision of skeletal system", "Abnormal circulating protein concentration", - "abnormal independent continuant alpha-fetoprotein level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal role independent continuant level", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "obsolete cell", + "head", + "amide", + "platelet", + "organooxygen compound", + "organochalcogen compound", + "abnormal programmed DNA elimination by chromosome breakage", + "cellular process", + "main group molecular entity", + "negative regulation of cellular biosynthetic process", ], "has_phenotype_count": 8, "highlight": None, @@ -8221,10 +12851,10 @@ def autocomplete(): "has_phenotype": [ "HP:0040012", "HP:0000086", + "HP:0002984", "HP:0009777", "HP:0011835", "HP:0000252", - "HP:0002984", "HP:0001510", "HP:0003974", "HP:0001643", @@ -8234,10 +12864,10 @@ def autocomplete(): "has_phenotype_label": [ "Chromosome breakage", "Ectopic kidney", + "Hypoplasia of the radius", "Absent thumb", "Absent scaphoid", "Microcephaly", - "Hypoplasia of the radius", "Growth delay", "Absent radius", "Patent ductus arteriosus", @@ -8245,616 +12875,1182 @@ def autocomplete(): "Aplasia of the 1st metacarpal", ], "has_phenotype_closure": [ - "HP:0005914", - "HP:0010048", - "HP:0009659", - "HP:0009851", - "UPHENO:0080191", - "HP:0010026", - "HP:0010035", - "HP:0010009", - "UPHENO:0084458", + "UBERON:0015043", + "UBERON:0002374", + "UBERON:0003221", + "UBERON:0003821", + "UBERON:0012357", + "UBERON:0010546", + "HP:0009658", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5106048", + "UBERON:0010688", "HP:0005918", - "UPHENO:0026055", - "UPHENO:0080168", - "UPHENO:0081515", - "HP:0010242", + "HP:0009767", + "UPHENO:0084458", "UPHENO:0025593", "UPHENO:0076755", - "HP:0009802", - "UPHENO:0021800", - "HP:0009602", - "UPHENO:0081455", - "HP:0012638", - "UPHENO:0080555", - "UPHENO:0002433", - "UPHENO:0082875", - "UPHENO:0080556", - "HP:0012799", - "UPHENO:0078730", - "UPHENO:0081700", - "UPHENO:0081709", - "HP:0006824", + "UPHENO:0009400", + "HP:0010048", + "UBERON:5101463", + "UPHENO:0021840", + "HP:0005916", + "HP:0009834", + "UPHENO:0080164", + "UBERON:0002234", + "UBERON:0004302", + "UBERON:0009877", + "UBERON:0002544", + "UBERON:0005451", + "UPHENO:0081466", + "UBERON:0000467", + "UBERON:0001423", + "HP:0011603", + "UBERON:0003460", + "UPHENO:0001002", + "UBERON:0015061", + "UBERON:0003129", + "UBERON:0011582", + "UBERON:0004708", + "UBERON:0004572", + "UBERON:0012139", + "UPHENO:0012541", + "UBERON:0012150", + "GO:0090304", + "UBERON:0014395", + "UPHENO:0046540", + "UBERON:0000477", + "UPHENO:0080114", + "HP:0001167", + "HP:0040064", + "HP:0009810", + "UBERON:0003606", + "HP:0033127", + "UBERON:0001630", + "UPHENO:0081313", + "HP:0011842", + "UPHENO:0075696", + "HP:0006502", + "HP:0010035", + "UBERON:0000075", + "UPHENO:0069294", + "UPHENO:0080126", + "HP:0011844", + "GO:0009892", "UPHENO:0087369", - "HP:0010628", - "UPHENO:0026144", - "UPHENO:0076729", - "HP:0009825", - "HP:0001191", - "HP:0009121", - "HP:0033353", - "HP:0009823", - "UPHENO:0087334", - "HP:0002011", - "UPHENO:0001001", + "UBERON:0001033", + "UBERON:0004461", + "UBERON:0007272", + "UPHENO:0009338", + "UBERON:0004537", + "UPHENO:0076765", + "HP:0009822", + "UPHENO:0076727", + "UPHENO:0012274", + "UBERON:0002113", + "UBERON:0003645", + "HP:0011314", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "HP:0031910", + "UBERON:0001460", + "GO:0040007", + "UBERON:0015063", + "HP:0009826", + "UBERON:0010708", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0020584", - "HP:0002813", - "UPHENO:0080099", - "HP:0007364", - "UPHENO:0002964", - "UPHENO:0087349", + "UBERON:0007798", + "UBERON:0002091", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0002201", + "HP:0006824", + "UBERON:0010712", + "UBERON:0019231", + "UPHENO:0002844", + "HP:0006503", + "UPHENO:0086956", + "UBERON:0018254", + "RO:0002577", + "UBERON:0000073", + "UPHENO:0076724", "UPHENO:0081451", - "UPHENO:0081511", - "HP:0001155", - "HP:0005922", - "UPHENO:0004508", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0016527", - "UPHENO:0022529", - "UPHENO:0080173", - "UPHENO:0031839", + "UBERON:0003466", + "UPHENO:0026183", + "HP:0040070", + "UBERON:0008785", + "GO:0010558", + "GO:0048519", + "UBERON:0006058", + "UBERON:0010363", + "GO:0044237", + "HP:0010009", + "HP:0002977", + "UBERON:0001647", + "HP:0009824", + "UBERON:0010538", + "UBERON:0000061", + "GO:1901360", + "UPHENO:0026001", + "HP:0100547", + "UBERON:0005985", + "UPHENO:0075195", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0076703", + "HP:0003974", + "UPHENO:0081204", + "UBERON:0002102", + "UBERON:0004710", + "UPHENO:0084448", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0009341", + "UPHENO:0079872", + "UPHENO:0081091", + "UPHENO:0076710", "HP:0009601", + "UBERON:0003607", "HP:0100542", - "HP:0001507", - "UPHENO:0025945", - "UPHENO:0080114", + "UBERON:0000916", + "UBERON:0011249", + "UPHENO:0026028", + "UBERON:0002529", + "UBERON:0004905", + "UBERON:0001008", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0050021", + "UBERON:0034925", + "UPHENO:0050121", + "HP:0002984", + "GO:0031327", + "HP:0009821", + "UBERON:0010912", + "HP:0040072", + "GO:0010556", + "PR:000050567", + "HP:0009815", + "UPHENO:0033572", + "BFO:0000002", + "HP:0005914", + "HP:0012639", + "UPHENO:0049700", + "UBERON:0010544", + "HP:0005927", + "GO:0009890", + "UPHENO:0031839", + "GO:0006259", + "UBERON:0001474", + "UBERON:0001981", + "UPHENO:0082875", + "GO:0006139", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0049990", + "GO:0006807", "UPHENO:0006910", - "UPHENO:0084761", - "UPHENO:0081566", + "UPHENO:0049873", + "UBERON:0000153", + "UBERON:0009880", + "UPHENO:0002678", + "UPHENO:0025701", + "UBERON:5006048", + "GO:0005623", + "UBERON:0000955", + "UBERON:0010703", + "GO:0009987", + "GO:0071824", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0009659", + "UBERON:5002389", + "UPHENO:0087496", + "BFO:0000003", + "UBERON:0012358", + "CL:0000000", + "HP:0002818", + "HP:0002813", + "GO:0071840", + "UBERON:0004770", + "UBERON:0001015", + "UBERON:0000465", + "UBERON:0008229", + "UBERON:0010959", + "GO:0031052", + "GO:0031323", + "UBERON:0002513", + "UBERON:0011138", + "GO:0031324", + "UBERON:0002100", + "UPHENO:0002320", + "GO:0065007", + "HP:0002817", + "UPHENO:0001001", + "GO:0044238", + "GO:0010629", + "HP:0001626", + "GO:0071704", + "GO:0009889", + "UBERON:0017750", + "HP:0030680", + "GO:0006325", + "UBERON:0003103", + "HP:0000077", + "UPHENO:0002905", "HP:0003026", - "UPHENO:0011498", - "HP:0004243", - "UPHENO:0002696", - "UPHENO:0068971", - "UPHENO:0087309", - "UPHENO:0084763", - "UPHENO:0086633", + "UBERON:0005172", "UPHENO:0002803", "UPHENO:0002832", - "UPHENO:0008523", - "UPHENO:0087518", - "HP:0009380", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0087501", - "HP:0009658", - "HP:0000924", - "HP:0009834", - "UPHENO:0081435", - "UPHENO:0002830", - "UPHENO:0079870", - "UPHENO:0086700", - "UPHENO:0078606", - "HP:0000001", - "HP:0025354", - "HP:0009821", - "UPHENO:0002973", - "HP:0000301", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", + "UPHENO:0086633", + "UPHENO:0050845", "HP:0001939", - "HP:0010827", - "HP:0000271", - "HP:0003019", - "HP:0004231", - "UPHENO:0076727", - "UPHENO:0001003", - "UPHENO:0050121", - "HP:0040070", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0005116", - "UPHENO:0076779", - "UPHENO:0002816", - "UPHENO:0053580", - "UPHENO:0079876", - "UPHENO:0050116", - "UPHENO:0049367", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0021840", + "GO:0006996", + "GO:0046483", + "UPHENO:0084766", + "BFO:0000004", + "UBERON:0001434", + "HP:0006496", + "GO:0031326", + "UPHENO:0084763", + "UPHENO:0087309", + "UBERON:0004122", + "UPHENO:0080083", "HP:0010935", - "UPHENO:0001002", - "HP:0011297", - "UPHENO:0076723", - "UPHENO:0049748", - "HP:0011017", + "HP:0000301", + "UBERON:0010741", + "UBERON:0002101", + "HP:0000152", + "UBERON:0013701", + "GO:0050789", "HP:0000079", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", + "UPHENO:0026128", + "GO:0048523", + "UBERON:0004120", + "UPHENO:0076779", + "UBERON:5001463", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0001005", + "HP:0040195", + "HP:0000086", + "UBERON:0034713", + "HP:0000707", + "UPHENO:0049748", + "UBERON:0002075", + "GO:0031049", "UPHENO:0050113", + "GO:0060255", + "UPHENO:0076740", + "GO:0008150", + "UPHENO:0020888", + "UPHENO:0049367", + "UPHENO:0050116", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010314", "HP:0000929", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0002708", - "UPHENO:0084447", - "UPHENO:0002320", - "UPHENO:0050021", - "HP:0045060", - "HP:0001291", - "UPHENO:0053588", - "UPHENO:0081524", - "HP:0006496", - "UPHENO:0009400", - "BFO:0000001", - "UPHENO:0050845", - "UPHENO:0025701", - "BFO:0000020", - "UPHENO:0026028", - "PATO:0000001", - "HP:0000086", + "GO:0034641", + "GO:0008152", + "UPHENO:0087501", + "GO:0006725", + "UBERON:0001893", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0076767", + "UBERON:0011250", + "UBERON:0013700", + "GO:0019222", + "HP:0025354", + "GO:0050794", "HP:0003220", - "HP:0001367", - "UPHENO:0081755", - "UPHENO:0081466", - "HP:0040012", - "HP:0002973", - "UPHENO:0087496", - "UPHENO:0076724", - "UPHENO:0002678", - "UPHENO:0049873", - "HP:0001510", - "HP:0001172", - "HP:0030962", - "UPHENO:0002961", - "HP:0000118", - "HP:0011804", - "UPHENO:0026506", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0009399", - "UPHENO:0080325", - "UPHENO:0002642", - "HP:0001627", + "HP:0045060", + "UBERON:0012151", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0002470", "UPHENO:0081790", - "UPHENO:0087006", - "UPHENO:0076767", - "UPHENO:0002896", - "UPHENO:0076791", - "UPHENO:0086589", + "UBERON:0001577", + "UBERON:0011143", + "UPHENO:0053580", + "UPHENO:0002816", + "UBERON:0005173", + "UPHENO:0087427", + "UPHENO:0002332", + "UBERON:0010758", + "UBERON:8450002", + "UBERON:0000062", + "UBERON:0004765", + "UPHENO:0053588", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002417", + "UPHENO:0026144", + "UBERON:0005090", + "UBERON:0005178", + "UBERON:0001444", + "UPHENO:0018390", + "UPHENO:0068971", + "UPHENO:0008668", + "UPHENO:0079876", + "GO:0043170", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0001627", + "UPHENO:0002880", + "UBERON:0012475", + "BFO:0000001", + "HP:0010628", + "UBERON:0010000", + "UBERON:0004716", + "UBERON:0008962", + "UBERON:0001463", "HP:0012210", - "UPHENO:0049990", - "UPHENO:0075902", - "UPHENO:0080160", - "HP:0002060", - "UPHENO:0026181", - "HP:0005916", + "UBERON:0002204", + "UBERON:0002090", + "HP:0030319", + "UPHENO:0026506", + "HP:0009602", + "HP:0011804", + "HP:0009380", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0076723", + "NCBITaxon:131567", + "HP:0040068", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "UBERON:0001062", + "UBERON:0005881", + "UBERON:0015021", + "UBERON:0003509", + "UBERON:0004573", + "UBERON:0004381", + "UPHENO:0011498", + "UBERON:0004249", + "UBERON:0019221", + "UPHENO:0046538", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0013581", + "NCBITaxon:2759", + "HP:0005922", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0078606", "HP:0006265", - "HP:0006502", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0087089", - "UPHENO:0086635", - "HP:0033127", - "HP:0011805", + "UPHENO:0084761", + "UPHENO:0081455", + "HP:0011297", + "UPHENO:0046505", + "UBERON:0013768", "HP:0009777", + "HP:0011805", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0086700", + "UBERON:0005944", + "UBERON:0004452", + "HP:0001191", + "UBERON:0001427", + "UPHENO:0016527", + "HP:0001367", + "UBERON:0006716", + "UBERON:5102389", + "UPHENO:0075655", + "UBERON:0001480", "UPHENO:0026023", - "UPHENO:0076702", + "HP:0009823", + "HP:0004243", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0015078", + "UPHENO:0081524", + "UPHENO:0080173", + "UBERON:0000982", + "UPHENO:0002696", + "HP:0004231", + "HP:0003019", + "UPHENO:0020041", + "HP:0000271", + "HP:0010827", + "UPHENO:0002973", + "HP:0009825", "UPHENO:0009382", - "UPHENO:0087186", - "HP:0100547", - "UPHENO:0002880", - "UPHENO:0080362", + "UPHENO:0002961", + "HP:0030962", + "HP:0011835", + "UBERON:0000948", + "UPHENO:0015324", + "UBERON:0034921", + "GO:0010605", + "UBERON:0005897", + "UBERON:0015049", + "UBERON:0003656", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0007811", + "UPHENO:0087089", + "HP:0009121", + "HP:0000924", + "UBERON:0004121", + "UBERON:0000033", + "HP:0002060", + "UPHENO:0080160", + "HP:0009115", "UPHENO:0004523", - "HP:0001167", - "HP:0040064", - "HP:0009810", - "UPHENO:0001005", - "HP:0040195", - "HP:0009767", - "UPHENO:0075195", - "UPHENO:0002908", + "UPHENO:0080079", + "HP:0007364", + "UPHENO:0081521", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0076722", + "UBERON:0001017", + "UPHENO:0026181", + "UPHENO:0002964", "HP:0012443", - "HP:0002977", - "UPHENO:0002764", - "UPHENO:0076805", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "BFO:0000002", - "HP:0012639", - "UPHENO:0020888", - "UPHENO:0003587", + "UBERON:0002616", + "UBERON:0002049", + "UBERON:0001016", + "UBERON:5102544", + "UBERON:0004111", + "UBERON:0011137", "UPHENO:0075220", - "UPHENO:0076772", + "UBERON:0001890", + "UBERON:0015042", "UPHENO:0080200", - "UPHENO:0012274", - "HP:0011314", - "UPHENO:0081313", - "UPHENO:0087510", - "UPHENO:0087907", - "HP:0006501", - "HP:0009826", - "UPHENO:0009341", - "UPHENO:0046538", - "UPHENO:0081204", - "UPHENO:0026001", - "UPHENO:0081792", - "UPHENO:0080164", + "UPHENO:0076772", + "UPHENO:0002764", + "UPHENO:0076805", "HP:0000234", "UPHENO:0087018", - "HP:0006503", - "HP:0009815", - "UPHENO:0088186", - "UPHENO:0046505", - "HP:0040072", - "UPHENO:0081521", - "UPHENO:0002910", - "HP:0030319", - "UPHENO:0020041", - "UPHENO:0076710", - "UPHENO:0081091", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0069294", - "HP:0002818", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0005773", - "HP:0031910", + "NCBITaxon:33154", + "HP:0000252", + "HP:0011799", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0004508", + "UPHENO:0081566", + "NCBITaxon:1", + "UBERON:0000481", + "UBERON:0010543", + "HP:0001507", + "UBERON:0001436", + "GO:0010468", "UPHENO:0000541", + "UBERON:0001456", + "UPHENO:0049874", + "HP:0002597", + "PATO:0000001", + "HP:0000759", "UPHENO:0000543", + "HP:0001510", + "UBERON:0004473", "HP:0003953", - "UPHENO:0076718", - "UPHENO:0015290", - "UPHENO:0076703", - "HP:0003974", - "HP:0009822", - "HP:0001626", - "UPHENO:0033572", - "HP:0011835", - "UPHENO:0015324", - "UPHENO:0075655", - "UPHENO:0009338", - "UPHENO:0076765", + "UPHENO:0009399", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0001637", + "UPHENO:0015280", + "UPHENO:0075902", + "GO:0016043", + "UPHENO:0080168", + "HP:0000118", + "UBERON:0003834", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000055", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UBERON:0002386", + "UBERON:0001435", + "UBERON:0005440", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0011779", + "UBERON:0004145", + "UPHENO:0076729", + "UPHENO:0081435", + "UPHENO:0087186", + "UPHENO:0080362", "HP:0025015", - "UPHENO:0086797", - "HP:0011603", + "HP:0033353", + "UBERON:0001009", + "UBERON:0012140", + "UBERON:0004571", "HP:0001643", - "UPHENO:0033603", - "UPHENO:0076810", - "HP:0030680", + "NCBITaxon:6072", "UPHENO:0076776", - "HP:0001324", + "UPHENO:0086797", + "UBERON:0012141", + "UBERON:0003513", + "UBERON:0011695", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0003498", + "UBERON:0006876", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "UBERON:0018674", + "UBERON:0013630", + "UBERON:0034923", + "HP:0010242", + "UBERON:0007100", + "UPHENO:0002908", + "UPHENO:0003587", + "UBERON:0000383", + "UPHENO:0021800", + "UBERON:0001785", + "UBERON:0014892", + "UPHENO:0080555", "HP:0045010", - "HP:0003011", - "UPHENO:0080083", - "HP:0000252", - "HP:0011799", - "UPHENO:0049874", - "HP:0002597", - "HP:0000759", - "UPHENO:0087427", - "UPHENO:0002332", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0002471", + "UPHENO:0081755", + "UPHENO:0078730", + "UPHENO:0081709", + "UBERON:0000122", + "HP:0001324", "HP:0410008", - "HP:0000240", - "UPHENO:0076722", - ], - "has_phenotype_closure_label": [ - "abnormal metacarpal bone of digit 1 morphology", - "Aplasia of the 1st metacarpal", - "aplastic metacarpal bone of digit 1", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "absent metacarpal bone in the metacarpus region", - "aplastic phalanx of manus", - "Aplasia/Hypoplasia of the 1st metacarpal", - "Aplasia of the proximal phalanges of the hand", - "abnormal phalanx morphology", - "Abnormal metacarpal morphology", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "absent metacarpal bone", - "Abnormality of thumb phalanx", - "Aplasia of metacarpal bones", - "aplasia or hypoplasia of metacarpal bone", - "aplasia or hypoplasia of phalanx of manus", - "Abnormality of the face", - "Abnormal peripheral nervous system morphology", - "Weakness of facial musculature", - "abnormal cranial nerve morphology", - "Abnormal skeletal muscle morphology", - "paralysed cranial nerve", - "absent carpal bone in the independent continuant", - "quality", - "abnormal skeletal joint morphology in the pectoral complex", - "Carpal bone aplasia", - "Abnormal joint morphology", - "Abnormal 1st metacarpal morphology", - "Aplasia/Hypoplasia involving the carpal bones", - "abnormal radiale", - "Abnormality of the urinary system", - "abnormal skeletal system", + "UPHENO:0002433", + "UPHENO:0088186", + "UBERON:0009878", + "UBERON:0005162", + "UBERON:0001021", + "UPHENO:0002910", + "UPHENO:0080556", + "UBERON:0015789", + "HP:0003011", + "UBERON:0011216", + "UPHENO:0079870", + "HP:0001291", + "HP:0012799", + "HP:0012638", + "UBERON:0004453", + "UBERON:0002376", + "UBERON:0000010", + "UPHENO:0026055", + "UPHENO:0081515", + "HP:0009851", + "HP:0010026", + "UPHENO:0080191", + "HP:0009802", + ], + "has_phenotype_closure_label": [ + "manual digit 1 phalanx endochondral element", + "manual digit 1 metacarpus endochondral element", + "metapodial skeleton", + "skeleton of digitopodium", + "abnormal phalanx of manus morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "Abnormality of thumb phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Abnormal proximal phalanx morphology of the hand", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of proximal phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "metapodium bone", + "digitopodium bone", + "skeleton of manual acropodium", + "metacarpal bone of digit 1", + "proximal phalanx of manus", "abnormal manual digit morphology in the independent continuant", - "Absent scaphoid", - "aplastic carpal bone", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal manual digit 1 morphology", - "paralysed anatomical entity", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Abnormal axial skeleton morphology", + "organism", + "Finger aplasia", + "cardiovascular system", + "abnormal manus morphology", + "pectoral appendage skeleton", + "segment of manus", + "protein-containing material entity", + "Aplasia/hypoplasia involving bones of the extremities", + "skeleton of limb", + "Aplasia involving forearm bones", + "paired limb/fin skeleton", + "system", + "decreased size of the anatomical entity in the independent continuant", + "limb long bone", + "zeugopodial skeleton", + "peripheral nervous system", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "paired limb/fin segment", + "bone element", + "pectoral complex", + "trunk region element", + "head", + "Aplasia involving bones of the upper limbs", + "arm bone", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "Abnormal skeletal morphology", + "forelimb endochondral element", + "primary metabolic process", + "skeletal system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "forelimb zeugopod bone hypoplasia", + "endochondral bone", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "abnormal upper urinary tract", + "Limb undergrowth", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "craniocervical region", + "forelimb bone", + "anatomical entity hypoplasia", "Aplasia/hypoplasia of the extremities", - "abnormal anatomical entity morphology in the manus", - "Short long bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormally localised kidney", - "abnormal metacarpal bone morphology", - "Abnormality of limb bone", - "absent anatomical entity in the skeletal system", + "decreased size of the radius bone", + "Abnormal cellular phenotype", "abnormal autopod region morphology", - "Absent thumb", - "Aplasia/Hypoplasia of the phalanges of the hand", - "aplastic anatomical entity", - "abnormal vasculature", - "Abnormal digit morphology", - "Abnormality of the musculoskeletal system", - "Aplasia/Hypoplasia of fingers", - "Abnormal finger morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "Abnormality of facial soft tissue", - "abnormal number of anatomical enitites of type anatomical entity", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal anatomical entity", + "skeleton", + "paired limb/fin", + "anatomical collection", + "All", + "Aplasia involving bones of the extremities", + "absent manual digit", + "abnormal phenotype by ontology source", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", "Abnormality of limb bone morphology", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", "Abnormality of limbs", - "abnormal skeletal joint morphology in the independent continuant", - "abnormal brain morphology", - "absent metacarpal bone in the independent continuant", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormal forebrain morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "Phenotypic abnormality", - "Aplasia/Hypoplasia of the thumb", - "phenotype", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood vessel", + "outflow tract", + "obsolete cellular aromatic compound metabolic process", + "abnormal facial muscle", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormal appendicular skeleton morphology", + "subdivision of organism along appendicular axis", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "facial nerve", + "limb", + "cell", + "Abnormality of the upper limb", + "radius endochondral element", + "manus", + "Upper limb undergrowth", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "abnormal size of anatomical entity", + "regulation of cellular process", + "digitopodium region", + "abnormal skeletal joint morphology in the pectoral complex", + "nucleobase-containing compound metabolic process", "absent digit", - "Absent forearm bone", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the metacarpus region", + "Abnormal morphology of the radius", + "abdomen element", + "obsolete nitrogen compound metabolic process", + "thoracic segment blood vessel", + "excretory system", + "circulatory system", + "zeugopod", + "skeletal element", + "renal system", + "Abnormal localization of kidney", + "biological_process", + "subdivision of skeletal system", + "entity", "abnormal nitrogen compound metabolic process", - "Abnormality of the hand", + "abdominal segment element", + "absent anatomical entity in the metacarpus region", + "Abnormal joint morphology", + "body proper", "abnormal peripheral nervous system", - "Aplasia/hypoplasia involving bones of the extremities", - "aplastic manual digit 1 phalanx", - "Abnormal muscle physiology", - "abnormal programmed DNA elimination by chromosome breakage", + "abnormal primary metabolic process", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "appendicular skeletal system", + "radiale", + "material anatomical entity", + "muscle structure", + "chromatin organization", "abnormal metabolic process", - "Abnormality of the skeletal system", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal kidney morphology", - "abnormality of cranial nerve physiology", - "abnormal appendicular skeleton morphology", - "abnormal renal system morphology", - "abnormal location of anatomical entity", - "abnormal forelimb morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Abnormal proximal phalanx morphology of the hand", - "Finger aplasia", - "continuant", - "abnormal craniocervical region morphology", - "abnormal limb", - "abnormal biological_process", - "absent radiale", - "abnormal peripheral nervous system morphology", - "Abnormal cranial nerve morphology", - "absent anatomical entity in the multicellular organism", - "Abnormality of metabolism/homeostasis", - "abnormal organelle organization", - "Abnormality of the musculature", + "thoracic segment organ", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "appendicular skeleton", + "upper limb segment", + "organ", + "abnormality of nervous system physiology", "abnormal digit", - "abnormal nerve", - "absent manual digit", - "abnormal phenotype by ontology source", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal limb morphology", - "abnormal primary metabolic process", - "abnormal coronary vessel morphology", + "cellular organisms", + "thoracic segment of trunk", + "Abnormality of the musculature", + "short bone", + "abnormal organelle organization", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "protein-containing complex organization", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "independent continuant", + "abnormal growth", + "abnormal cellular process", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormality of facial musculature", + "articulation", + "regional part of nervous system", + "abnormally localised anatomical entity", + "nucleic acid metabolic process", + "process", + "Congenital malformation of the great arteries", "bone element hypoplasia in independent continuant", "Unilateral facial palsy", - "Patent ductus arteriosus", - "abnormal carpal region", - "Abnormal upper limb bone morphology", - "agenesis of anatomical entity", - "Abnormality of the scaphoid", - "abnormal manus morphology", - "abnormal cellular process", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal forelimb zeugopod morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "cellular metabolic process", + "abnormal cranial nerve morphology", + "forelimb zeugopod", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "continuant", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "acropodial skeleton", + "Abnormal muscle physiology", + "Phenotypic abnormality", + "regulation of macromolecule metabolic process", + "abnormal cellular component organization", + "compound organ", + "Abnormality of the peripheral nervous system", + "mesoderm-derived structure", + "autopod bone", + "thoracic cavity element", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Aplasia of the proximal phalanges of the hand", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "abnormal anatomical entity topology in independent continuant", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "regulation of gene expression", + "quality", + "forelimb zeugopod skeleton", + "proximal mesopodial bone", + "regulation of cellular biosynthetic process", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal kidney morphology", + "abnormal carpal bone morphology", + "musculature of face", + "cellular component organization", + "manual digit 1 or 5", + "negative regulation of metabolic process", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "bone of appendage girdle complex", "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "abnormal proximal phalanx of manus morphology", + "regulation of biosynthetic process", + "forelimb skeleton", + "genitourinary system", + "abnormal limb", + "negative regulation of cellular process", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Abnormality of cardiovascular system morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "carpal region", + "limb skeleton subdivision", + "skull", + "biological regulation", + "abdominal segment of trunk", + "abnormally localised kidney", + "phenotype by ontology source", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "arm", + "protein-DNA complex organization", + "abnormal systemic artery morphology", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "decreased length of forelimb zeugopod bone", + "phalanx of manus", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "Abnormality of the kidney", + "paralysed anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "aplastic manual digit 1 phalanx", + "muscle organ", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "macromolecule metabolic process", + "vascular system", "Ectopic kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal carpal bone morphology", + "abnormal proximal phalanx of manus morphology", + "cavitated compound organ", + "abnormal brain morphology", + "acropodium region", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of the wrist", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "vasculature", "abnormal renal system", + "negative regulation of cellular biosynthetic process", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "regulation of biological process", + "arterial blood vessel", + "anatomical entity hypoplasia in independent continuant", + "skeletal musculature of head", + "anatomical system", + "appendage", + "root", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "abnormally localised anatomical entity in independent continuant", + "organ system subdivision", + "abnormal renal system morphology", + "aplastic carpal bone", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "appendage girdle complex", + "subdivision of head", + "trunk", + "skeletal musculature", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "anterior region of body", + "aplastic anatomical entity", + "subdivision of organism along main body axis", + "abnormal appendicular skeleton morphology", + "abnormality of cranial nerve physiology", + "limb endochondral element", + "Short forearm", + "delayed biological_process", + "Aplasia/Hypoplasia of the thumb", + "aplastic manual digit 1", + "manual digit", + "phalanx", + "vasculature of organ", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "abdomen", + "manual digit 1 plus metapodial segment", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "subdivision of trunk", + "Abnormal thumb morphology", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "Aplasia of metacarpal bones", + "abnormal face", + "Facial palsy", + "digit", + "abnormal skeletal system", + "digit 1 plus metapodial segment", "abnormal ductus arteriosus morphology", - "Upper limb undergrowth", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "Partial absence of thumb", - "decreased anatomical entity strength", - "abnormal forebrain morphology", - "Abnormal cranial nerve physiology", - "abnormal skull morphology", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormality of muscle organ physiology", - "abnormal upper urinary tract", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the wrist", - "Growth abnormality", - "Abnormal localization of kidney", - "absent anatomical entity", - "abnormally localised anatomical entity in independent continuant", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", - "abnormally localised anatomical entity", - "Abnormal blood vessel morphology", - "absent carpal bone in the limb", - "abnormal limb bone morphology", - "entity", + "manual digit plus metapodial segment", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "digit plus metapodial segment", + "aplastic metacarpal bone of digit 1", + "abnormal manus", "aplasia or hypoplasia of manual digit 1", - "decreased length of anatomical entity", - "Muscle weakness", - "Abnormal carpal morphology", + "absent metacarpal bone", + "absent anatomical entity", + "carpal skeleton", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "absent metacarpal bone in the independent continuant", + "autopodial skeleton", + "skeleton of manus", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of upper limb joint", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "abnormal carpal bone", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", + "negative regulation of biological process", + "articular system", + "multi organ part structure", + "abnormal carpal region", + "Patent ductus arteriosus", "aplasia or hypoplasia of carpal bone", "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "Aplasia/Hypoplasia involving the metacarpal bones", - "decreased size of the anatomical entity in the independent continuant", - "decreased muscle organ strength", - "Abnormality of skull size", - "abnormal head morphology", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", + "absent carpal bone in the independent continuant", + "Abnormality of the scaphoid", + "Carpal bone aplasia", + "absent radiale", + "systemic arterial system", "absent radius bone in the independent continuant", - "abnormal blood vessel morphology", - "abnormal incomplete closing of the anatomical entity", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of brain morphology", - "Abnormality of head or neck", + "proximal carpal bone", + "metacarpal bone", + "occurrent", + "absent carpal bone in the limb", + "Aplasia/Hypoplasia involving the carpal bones", + "skeletal joint", + "Absent scaphoid", + "digit 1", + "abnormal carpal bone", + "Abnormality of metabolism/homeostasis", "abnormal skeletal joint morphology", + "Abnormality of the urinary system", "Morphological central nervous system abnormality", - "Aplasia involving forearm bones", - "abnormal head", - "abnormal nervous system morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "aplasia or hypoplasia of manual digit 1 phalanx", - "abnormal long bone morphology", + "abnormal radiale", + "carpus endochondral element", + "Absent thumb", + "proximal mesopodial endochondral element", + "Abnormal carpal morphology", + "mesopodial skeleton", + "abnormal telencephalon morphology", + "bone of free limb or fin", + "mesopodium bone", + "negative regulation of gene expression", + "carpal bone", + "abnormal skeletal system morphology", + "proximal carpal endochondral element", + "abnormal head morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Short long bone", + "abnormal skull morphology", + "cranial neuron projection bundle", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "heart", + "organic substance metabolic process", "Abnormality of the head", + "abnormal limb morphology", + "anatomical conduit", + "autopod region", + "abnormal skeletal joint morphology in the independent continuant", + "Aplasia/Hypoplasia of the cerebrum", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "abnormal craniocervical region morphology", + "Abnormal skull morphology", + "abnormal metacarpal bone morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormality of skull size", + "decreased muscle organ strength", + "cranial skeletal system", + "Abnormality of head or neck", + "Aplasia/hypoplasia involving forearm bones", + "metapodium region", + "abnormal nervous system", + "abnormal musculature", + "Abnormality of limb bone", + "autopod endochondral element", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "regional part of brain", + "metacarpus skeleton", + "musculature", + "Growth abnormality", + "axial skeletal system", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "Limb undergrowth", - "decreased length of long bone", - "abnormal radius bone morphology", - "abnormal face", - "Aplasia/Hypoplasia of the radius", - "abnormal artery morphology in the independent continuant", - "anatomical entity hypoplasia in independent continuant", - "Abnormal heart morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Aplasia involving bones of the upper limbs", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "Abnormal cellular phenotype", - "decreased size of the radius bone", + "Abnormal hand morphology", + "Metazoa", + "heart vasculature", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "abnormal head", + "forelimb long bone", + "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "abnormal biological_process", + "kidney", + "Growth delay", + "lateral structure", + "vessel", + "delayed growth", + "abnormal cardiovascular system", "Absent radius", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", "absent radius bone in the forelimb", - "anatomical entity hypoplasia", - "absent radius bone", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the heart", - "abnormal opening of the anatomical entity", - "abnormal phalanx of manus morphology", - "abnormal cardiovascular system morphology", + "arterial system", + "blood vasculature", + "abnormal incomplete closing of the anatomical entity", + "abnormal great vessel of heart morphology", + "abnormal arm", "Abnormal vascular morphology", - "radius bone hypoplasia", - "aplastic forelimb zeugopod bone", - "Abnormality of the vasculature", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "abnormal heart morphology", - "abnormal vascular system morphology", - "delayed growth", - "abnormal cardiovascular system", - "Abnormal hand morphology", - "Abnormal morphology of the great vessels", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Aplasia of the phalanges of the hand", - "abnormal systemic artery morphology", - "Congenital malformation of the great arteries", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "abnormal great vessel of heart morphology", - "Facial palsy", - "aplasia or hypoplasia of proximal phalanx of manus", - "Abnormality of facial musculature", - "abnormal growth", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal nervous system physiology", + "Abnormal blood vessel morphology", + "artery", + "abnormal genitourinary system", + "abnormal vasculature", + "Abnormal forearm morphology", "abnormal artery morphology", "abnormality of anatomical entity physiology", + "abnormal cell", + "disconnected anatomical group", + "anatomical cluster", + "negative regulation of macromolecule biosynthetic process", + "abnormal vascular system morphology", + "Abnormal heart morphology", + "viscus", + "conceptus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "abnormal limb long bone morphology", + "heart blood vessel", + "great vessel of heart", + "trunk blood vessel", + "organism subdivision", + "embryonic cardiovascular system", + "metapodium bone 1", + "abnormal blood vessel morphology", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "abnormal cardiovascular system morphology", + "abnormal artery morphology in the independent continuant", + "abnormal incomplete closing of the ductus arteriosus", + "coronary vessel", + "musculature of body", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "aplasia or hypoplasia of metacarpal bone", + "mesopodium region", + "systemic artery", + "decreased anatomical entity strength", + "phenotype", + "nerve of head region", + "absent anatomical entity in the independent continuant", + "Muscle weakness", + "Abnormal upper limb bone morphology", + "Abnormal peripheral nervous system morphology", + "abnormal muscle organ morphology", + "abnormal nerve", + "multi-tissue structure", + "abnormal peripheral nervous system morphology", + "neuron projection bundle", + "Abnormal skeletal muscle morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "skeletal muscle organ, vertebrate", + "abnormal metacarpal bone of digit 1 morphology", + "paralysed cranial nerve", + "craniocervical region musculature", + "axial musculature", + "craniocervical muscle", + "Abnormal cranial nerve morphology", + "Abnormality of the face", + "Abnormality of the cardiovascular system", "Abnormality of the seventh cranial nerve", "Cranial nerve paralysis", - "abnormal cellular component organization", - "Abnormality of the peripheral nervous system", - "abnormal muscle organ morphology", + "multi cell part structure", + "circulatory organ", + "cranial nerve", + "abnormal phalanx morphology", + "Abnormal cranial nerve physiology", + "Abnormality of the hand", + "radius bone", + "manus bone", "abnormal facial nerve", - "abnormal nervous system", - "abnormal musculature", - "Aplasia/hypoplasia involving forearm bones", - "abnormal facial muscle", + "facial muscle", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "Abnormal nervous system physiology", + "main body axis", + "gustatory system", + "cranial muscle", + "cranial or facial muscle", + "Hypoplasia of the radius", + "metacarpus region", + "decreased size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "aplasia or hypoplasia of phalanx of manus", + "abnormal anatomical entity morphology in the manus", + "proximal phalanx", ], "has_phenotype_count": 11, "highlight": None, diff --git a/backend/tests/fixtures/autocomplete_response.py b/backend/tests/fixtures/autocomplete_response.py index 75fa7c7bf..45291b1ff 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": 0, + "QTime": 1, "params": { "mm": "100%", "q": "fanc", @@ -30,7 +30,6 @@ def autocomplete_response(): "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.", "xref": [ "DOID:0111095", - "EFO:0009044", "GARD:15170", "GTR:AN1051558", "NCIT:C125702", @@ -131,940 +130,1576 @@ def autocomplete_response(): ], "has_phenotype_count": 34, "has_phenotype_closure": [ - "HP:0000789", "UPHENO:0049964", "HP:0003254", - "UPHENO:0049671", + "HP:0003213", "UPHENO:0051124", - "UPHENO:0049952", - "HP:0003214", - "HP:0000365", - "UPHENO:0052231", + "GO:0006950", + "GO:0051716", + "GO:0051319", + "GO:0007049", + "GO:0022402", + "UBERON:0002105", + "GO:0007605", + "GO:0050954", + "HP:0000364", + "UPHENO:0050625", "HP:0000598", "UPHENO:0005518", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0012373", + "UPHENO:0052970", + "HP:0000486", + "NBO:0000444", + "UBERON:0006800", "HP:0000549", + "UBERON:0000466", + "BFO:0000141", + "UPHENO:0049622", + "GO:0007610", + "HP:0000496", + "UPHENO:0080585", + "UBERON:0010222", + "NBO:0000338", + "HP:0011018", + "UBERON:0000015", + "GO:0050896", + "HP:0000708", "UPHENO:0079828", "UPHENO:0049586", "UPHENO:0000543", - "UPHENO:0080352", "UPHENO:0081424", + "UPHENO:0081423", + "UPHENO:0075159", + "UPHENO:0080351", + "UPHENO:0041226", + "HP:0000085", "UPHENO:0082129", - "UPHENO:0041821", - "UPHENO:0052970", + "GO:0007600", + "UPHENO:0041075", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0082444", + "HP:0000081", "UPHENO:0075787", - "UPHENO:0080351", - "HP:0004742", "HP:0011793", - "UPHENO:0080581", - "HP:0011028", + "HP:0002664", + "HP:0001909", + "HP:0004377", + "UBERON:0000477", + "GO:0003013", "HP:0000978", - "HP:0003213", "UPHENO:0051097", - "HP:0011025", - "UPHENO:0082444", - "UPHENO:0020041", - "HP:0009942", - "HP:0005918", - "HP:0009998", - "HP:0011018", + "HP:0001933", + "HP:0001892", + "UBERON:0007798", + "HP:0002597", + "HP:0011029", + "GO:0008015", + "UPHENO:0002678", + "UBERON:0003221", + "UBERON:0012357", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", "HP:0011314", - "HP:0004275", + "UPHENO:0087369", + "HP:0009942", + "HP:0009943", + "UBERON:5101463", + "HP:0009602", + "UPHENO:0021800", "UPHENO:0084447", - "HP:0011017", - "HP:0002664", - "UPHENO:0078606", + "GO:0022403", + "UBERON:0004249", + "HP:0003220", + "GO:0019222", + "HP:0011354", + "GO:0006139", + "GO:0046483", + "GO:0010629", + "UPHENO:0080581", + "UPHENO:0050021", + "UPHENO:0050121", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "UBERON:0005897", + "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", "HP:0003221", + "UPHENO:0049990", + "UPHENO:0049873", + "GO:0005623", + "GO:0050789", + "GO:0071704", + "HP:0031704", + "GO:0006807", + "GO:0044238", + "UPHENO:0049700", + "GO:0031052", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UBERON:0012150", + "GO:0090304", + "GO:0065007", + "GO:0008152", + "HP:0000365", + "GO:0009987", "UPHENO:0050116", - "HP:0001939", - "UPHENO:0050021", - "HP:0004377", "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049748", - "HP:0003220", - "HP:0002597", + "HP:0001939", + "UPHENO:0050113", "UPHENO:0049874", - "HP:0004325", + "UPHENO:0082794", + "UPHENO:0010795", + "UPHENO:0010763", + "GO:0006974", "HP:0004323", "UPHENO:0054299", - "UPHENO:0010763", + "GO:0040007", + "UBERON:0010543", "HP:0001507", - "HP:0001518", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0100887", - "HP:0000478", - "HP:0000271", + "UBERON:0004456", "HP:0000568", - "HP:0012372", - "UPHENO:0002910", - "HP:0000002", "UPHENO:0069523", - "UPHENO:0003020", + "UBERON:0000047", + "UPHENO:0020041", + "HP:0000271", + "UPHENO:0002910", + "UPHENO:0080209", + "UBERON:0010230", + "UPHENO:0087924", + "HP:0100887", + "HP:0000478", + "UPHENO:0087472", + "HP:0008056", + "UPHENO:0075219", + "HP:0011025", + "HP:0000315", + "GO:0033554", + "UBERON:0000970", + "UBERON:0001456", + "UBERON:0004088", + "UBERON:0000020", + "UBERON:0000019", "HP:0004312", - "UPHENO:0085263", "HP:0001896", + "UPHENO:0086002", + "UPHENO:0049588", + "CL:0000558", "UPHENO:0012541", - "HP:0009381", - "UPHENO:0031839", - "UPHENO:0046411", - "UPHENO:0041465", - "UPHENO:0046505", - "UPHENO:0046624", - "UPHENO:0068971", - "HP:0000496", - "UPHENO:0087472", - "UPHENO:0046707", - "UPHENO:0002597", - "UPHENO:0053298", - "UPHENO:0005597", - "UPHENO:0050101", - "HP:0000812", - "HP:0000811", - "HP:0000028", - "UPHENO:0041226", - "UPHENO:0086023", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0021474", - "UPHENO:0002595", - "HP:0009943", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0041629", - "UPHENO:0080382", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "HP:0011927", - "UPHENO:0052778", - "UPHENO:0020950", - "UPHENO:0021800", - "UPHENO:0085874", - "HP:0008056", - "HP:0000025", - "UPHENO:0005651", - "UPHENO:0086173", - "HP:0001872", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0002678", - "UPHENO:0049873", - "HP:0005561", - "UPHENO:0085302", - "HP:0012145", - "UPHENO:0086049", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0084987", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0085144", - "UPHENO:0087339", - "UPHENO:0002751", - "UPHENO:0079872", + "UPHENO:0012274", + "UPHENO:0002433", + "CL:0000233", + "UBERON:0015061", + "UBERON:0003129", + "GO:0008150", + "UPHENO:0020888", + "UBERON:0010708", + "UPHENO:0026506", + "UBERON:0001434", + "HP:0009778", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076810", + "CL:0000225", + "UBERON:0011582", + "GO:0006996", + "HP:0008678", + "UPHENO:0085263", + "UPHENO:0052178", + "NBO:0000001", + "UBERON:0034925", + "UPHENO:0088176", + "UPHENO:0086700", + "UPHENO:0086019", + "HP:0005927", + "UBERON:0003101", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", + "UBERON:0001440", + "UPHENO:0026183", + "HP:0009815", + "UPHENO:0080352", + "UBERON:0000075", + "CL:0000775", + "UPHENO:0088186", + "GO:0044848", + "UBERON:0001460", + "UBERON:0002513", + "UBERON:0011138", + "GO:0022414", + "NCBITaxon:2759", + "UBERON:0019221", + "UBERON:0002428", + "UPHENO:0054957", + "UBERON:0007272", "HP:0009822", - "UPHENO:0086956", - "HP:0002818", - "HP:0005922", - "UPHENO:0084766", - "HP:0009601", - "HP:0100542", - "UPHENO:0025945", - "UPHENO:0088148", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0011121", - "UPHENO:0079826", - "HP:0009142", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0002964", - "UPHENO:0081511", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0011276", + "UPHENO:0076727", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", + "UPHENO:0082761", + "CL:0000738", + "HP:0000027", + "HP:0009777", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "HP:0006496", + "UPHENO:0050008", + "UPHENO:0002905", + "UPHENO:0076723", + "UBERON:0002204", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UBERON:0000153", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0012141", + "GO:0034641", + "HP:0000929", + "GO:0050890", + "UBERON:0000073", + "HP:0010461", + "UBERON:0012139", + "UBERON:0000026", + "UBERON:0019231", + "UPHENO:0002844", + "UBERON:0010363", + "HP:0002977", "UPHENO:0084448", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", + "GO:0003008", + "UBERON:0010538", + "PATO:0000001", "UPHENO:0081435", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0076724", - "HP:0031704", - "HP:0040070", - "UPHENO:0003055", - "HP:0009777", - "HP:0011297", - "UPHENO:0012274", - "UPHENO:0085118", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0021474", + "UBERON:5001463", + "UBERON:0004708", + "UPHENO:0085068", "HP:0001167", "HP:0040064", - "UPHENO:0080662", - "UPHENO:0003116", - "HP:0009115", - "UPHENO:0080079", + "HP:0012759", + "UBERON:0002097", + "UBERON:0003135", + "UBERON:0012140", + "UBERON:0005451", + "HP:0045060", + "UPHENO:0086633", "HP:0011844", - "UPHENO:0087501", - "UPHENO:0009341", - "UPHENO:0020584", - "HP:0002813", - "HP:0011991", - "UPHENO:0074589", - "HP:0011354", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0088338", - "HP:0000081", - "UPHENO:0085873", - "HP:0000234", - "HP:0001933", - "UPHENO:0035025", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0003103", + "UBERON:0005881", + "UBERON:0001062", "UPHENO:0088321", - "UPHENO:0085194", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0001017", - "UPHENO:0011498", - "UPHENO:0026181", - "HP:0002715", - "UPHENO:0008593", - "UPHENO:0053580", - "UPHENO:0079876", - "HP:0006265", - "HP:0001909", - "UPHENO:0087123", - "UPHENO:0087089", - "HP:0000079", - "HP:0012638", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0076723", - "UPHENO:0085984", - "HP:0020047", - "HP:0011893", - "UPHENO:0080209", - "UPHENO:0087802", - "HP:0001000", - "HP:0045060", - "HP:0001876", + "UPHENO:0085195", + "UBERON:0010000", + "UBERON:0002390", + "BFO:0000004", + "HP:0002817", + "UPHENO:0001001", + "UPHENO:0087547", + "CL:0002422", + "CL:0000763", + "UPHENO:0049367", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0049671", + "HP:0009601", + "HP:0012373", + "HP:0100542", + "UBERON:0000916", + "HP:0001874", + "GO:0032502", + "UPHENO:0002832", + "HP:0032251", "UPHENO:0076692", "UPHENO:0002536", - "UPHENO:0085076", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0000951", - "HP:0012210", - "UPHENO:0076779", - "UPHENO:0085344", - "UPHENO:0081423", - "UPHENO:0080325", - "UPHENO:0002642", - "HP:0001627", - "UPHENO:0076740", + "UBERON:0012151", + "HP:0011017", + "NCBITaxon:33208", + "UPHENO:0001002", + "UPHENO:0079876", + "UPHENO:0053580", + "UBERON:0011143", + "HP:0001881", + "UPHENO:0084763", + "HP:0010935", + "UPHENO:0088148", + "UPHENO:0049940", + "HP:0009998", + "GO:0016043", + "UPHENO:0075902", "UPHENO:0015280", - "HP:0000001", - "HP:0007400", - "HP:0001892", - "HP:0000315", - "UPHENO:0021561", - "UPHENO:0085189", - "UPHENO:0080200", - "UPHENO:0085371", - "HP:0025354", - "UPHENO:0049367", - "HP:0000144", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0002240", - "UPHENO:0052178", - "HP:0008678", - "HP:0000486", - "HP:0001172", - "HP:0000118", - "HP:0009997", + "UBERON:5002544", + "UPHENO:0087510", + "GO:0006281", + "BFO:0000002", + "HP:0012639", + "UBERON:0002049", + "UBERON:0001016", "HP:0011446", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0049940", - "HP:0010935", - "UPHENO:0002764", - "UPHENO:0085405", - "UPHENO:0008523", - "UPHENO:0087518", - "UPHENO:0050008", - "HP:0040012", - "UPHENO:0081466", - "UPHENO:0086005", - "UPHENO:0081755", - "HP:0000086", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0087924", - "UPHENO:0001002", - "HP:0011961", - "UPHENO:0087006", - "UPHENO:0075219", - "UPHENO:0077426", + "UPHENO:0084766", + "UBERON:0015212", + "BFO:0000040", + "UPHENO:0059829", + "HP:0011991", + "UBERON:0011250", + "UPHENO:0086176", + "GO:0032501", + "UBERON:0013701", "UPHENO:0088335", - "HP:0001875", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", + "UPHENO:0076724", + "UPHENO:0081451", + "UBERON:0002101", + "UPHENO:0068971", + "UPHENO:0008668", "UPHENO:0002406", - "UPHENO:0074584", - "HP:0009778", - "HP:0006496", - "UPHENO:0002371", - "UPHENO:0088166", - "BFO:0000001", - "UPHENO:0054261", - "UPHENO:0001003", - "HP:0001881", - "UPHENO:0075902", - "HP:0002060", - "UPHENO:0076718", - "UPHENO:0082794", - "UPHENO:0026506", - "HP:0032309", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", - "UPHENO:0080362", - "UPHENO:0002948", - "UPHENO:0002905", + "UBERON:0001444", + "UPHENO:0018390", + "UBERON:0002193", "HP:0000077", + "UBERON:0002199", + "HP:0000152", + "GO:0048523", + "HP:0000079", + "UPHENO:0026128", "UPHENO:0085330", - "UPHENO:0049622", - "UPHENO:0086016", - "HP:0040072", - "UPHENO:0006910", - "HP:0009602", - "UPHENO:0085070", - "HP:0010974", - "HP:0012443", + "UPHENO:0076703", + "HP:0003974", + "GO:0044237", + "UPHENO:0088166", + "UPHENO:0002371", + "GO:0043170", + "HP:0011961", + "UPHENO:0077426", + "HP:0009997", + "HP:0001875", + "UPHENO:0076779", + "UPHENO:0020950", + "UPHENO:0085344", + "UBERON:0004120", + "UBERON:0010758", + "UPHENO:0087846", + "UPHENO:0053644", + "UBERON:8450002", + "HP:0001877", + "UBERON:0002389", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0011249", + "UBERON:0001008", + "UBERON:0008785", + "CL:0000255", + "HP:0005922", + "UBERON:0000467", + "UBERON:0005178", + "UPHENO:0049701", + "UBERON:0005177", + "UBERON:0005173", + "HP:0020047", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "GO:0007276", + "UPHENO:0085984", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "UBERON:0000062", + "UPHENO:0080099", + "CL:0000219", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0002240", + "UBERON:0004765", "UPHENO:0053588", 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"UPHENO:0026023", + "UPHENO:0080079", + "HP:0007364", + "UPHENO:0076739", + "UPHENO:0025100", + "UBERON:0002529", + "UPHENO:0085371", + "HP:0025354", + "HP:0010974", + "UPHENO:0085070", + "CL:0000019", + "UPHENO:0080114", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "UBERON:0002470", + "UPHENO:0075696", + "HP:0011842", + "UBERON:0012358", + "CL:0000000", + "UPHENO:0087802", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0086016", + "HP:0002715", + "HP:0011297", + "HP:0003214", + "UPHENO:0085118", + "UBERON:0002113", + "UPHENO:0087006", + "UPHENO:0085144", + "HP:0100543", + "UPHENO:0050108", + "UBERON:0034923", + "UBERON:0004054", + "BFO:0000003", + "UBERON:5002389", + "UPHENO:0086049", + "PR:000050567", + "UPHENO:0085405", + "CL:0002242", + "UPHENO:0050620", "UPHENO:0001005", "HP:0040195", + "HP:0000086", + "CL:0000766", + "UPHENO:0088318", + "HP:0000135", + "UPHENO:0085194", + "UBERON:0003607", + "UPHENO:0004523", + "HP:0009115", + "GO:0031049", + "UBERON:0002075", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0087123", + "UPHENO:0002219", + "UPHENO:0006910", + "UBERON:0002100", + "UPHENO:0076675", + "UPHENO:0035025", + "UBERON:0000479", + "UBERON:0000465", + "CL:0000988", + "HP:0012372", + "HP:0002060", + "UBERON:0002091", + "UPHENO:0020584", + "UBERON:0004121", + "HP:0000924", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UBERON:0002544", + "UPHENO:0002948", + "UPHENO:0076805", + "UPHENO:0085189", + "UBERON:0012475", + "UPHENO:0002880", + "HP:0000144", + "HP:0001518", + "HP:0100547", + "HP:0032309", + "UPHENO:0049587", + "BFO:0000015", + "GO:0032504", + "HP:0000815", + "HP:0011927", + "GO:0050877", + "HP:0012638", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0015025", + "HP:0002011", + "UBERON:0007811", + "UPHENO:0088338", + "UPHENO:0050101", "UPHENO:0075195", "HP:0009121", - "HP:0002977", - "UPHENO:0050625", - "HP:0010461", - "HP:0000929", - "HP:0000240", - "HP:0000078", - "UPHENO:0005016", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0026980", - "UPHENO:0075997", - "UPHENO:0020888", - "UPHENO:0086002", - "HP:0000252", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", - "HP:0001626", - "UPHENO:0085356", - "UPHENO:0076810", - "HP:0030680", - "UPHENO:0076776", - "HP:0001873", - "HP:0001034", - "HP:0002011", - "UPHENO:0074575", - "UPHENO:0009399", - "UPHENO:0025211", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0001574", - "UPHENO:0080377", + "UBERON:0000033", + "UBERON:0001017", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "UBERON:0002616", "UPHENO:0054970", - "HP:0012041", - "UPHENO:0085875", - "HP:0011355", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", + "UBERON:5102544", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0002090", + "GO:0048232", + "UPHENO:0075220", + "UBERON:0001893", + "UBERON:0001890", + "UPHENO:0080200", "UPHENO:0087907", "HP:0006501", - "UPHENO:0082682", + "HP:0000234", + "UPHENO:0085873", + "NCBITaxon:33154", + "HP:0000252", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0074575", + "UPHENO:0046707", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "CL:0000408", + "GO:0007283", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0000948", + "UBERON:0000915", + "UBERON:0005181", + "UPHENO:0080362", + "UBERON:0001009", + "NCBITaxon:6072", + "UPHENO:0076776", + "HP:0030680", + "HP:0001626", + "UPHENO:0005016", + "UBERON:0007100", + "GO:0050794", + "UPHENO:0085875", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "UBERON:0002102", "UPHENO:0003811", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0001574", + "UPHENO:0082682", + "UPHENO:0074589", "UPHENO:0080221", - "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", + "HP:0003251", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0009823", + "HP:0001034", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UBERON:0002417", + "UPHENO:0074572", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "HP:0000789", + "UBERON:0004710", + "UPHENO:0088162", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", "HP:0008373", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", "UPHENO:0066972", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0050113", + "HP:0000078", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", + "CL:0000232", + "UBERON:0004375", + "HP:0011873", + "UBERON:0001474", + "CL:0000329", + "UPHENO:0082875", + "HP:0011355", "HP:0000104", - "UPHENO:0002219", - "HP:0000957", - "HP:0009823", - "UPHENO:0087510", - "HP:0012874", - "HP:0009825", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", + "HP:0000980", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "HP:0001249", + "UBERON:0001968", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0002386", + "UBERON:0015021", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0010741", + "UPHENO:0081755", + "UBERON:0002471", + "CL:0000151", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0086956", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", + "UBERON:0002104", "HP:0006503", - "HP:0000085", - "HP:0003953", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0002973", - "UPHENO:0076703", - "HP:0003974", - ], - "has_phenotype_closure_label": [ - "Infertility", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", - "delayed biological_process", - "Growth delay", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0002332", + "HP:0012874", + "HP:0040070", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0009341", + "UPHENO:0079872", + "HP:0009142", + "UBERON:0004535", + "UBERON:0002495", + "UPHENO:0002751", + "UPHENO:0085356", + "GO:0019953", + "UBERON:0001423", + "UPHENO:0087355", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "UBERON:0011584", + "UPHENO:0084987", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "HP:0008669", + "HP:0001627", + "UPHENO:0049970", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0052231", + "HP:0000028", + "HP:0000811", + "UPHENO:0052778", + "HP:0003953", + "GO:0048609", + "GO:0003006", + "HP:0001000", + "UPHENO:0080382", + "GO:0000003", + "UBERON:0011216", + "UBERON:0004175", + "HP:0004322", + "UPHENO:0087973", + "HP:0000035", + "UPHENO:0078452", + "HP:0005918", + "HP:0012243", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0086201", + "UPHENO:0086198", + "HP:0012041", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "UPHENO:0005597", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000473", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "CL:0000586", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0053298", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "CL:0000413", + "CL:0000039", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411", + ], + "has_phenotype_closure_label": [ + "Decreased fertility", + "Decreased fertility in males", + "abnormal cellular response to stress", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle phase", + "cell cycle process", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal ear", + "ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "immaterial anatomical entity", + "Strabismus", + "body part movement", + "anatomical line", + "behavior process", + "behavior", + "abnormal eye movement", + "eye movement", + "response to stimulus", + "abnormal response to stimulus", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", + "delayed biological_process", + "decreased height of the multicellular organism", "Abnormality of body height", - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", + "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", + "U-shaped anatomical entity", + "3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", + "Hematological neoplasm", + "vasculature", + "abnormality of cardiovascular system physiology", "Bruising susceptibility", - "abnormal blood circulation", "Subcutaneous hemorrhage", + "Abnormal bleeding", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", + "Abnormality of blood circulation", + "vascular system", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "phalanx", + "digitopodium bone", + "skeleton of manual acropodium", + "acropodial skeleton", "Duplication of phalanx of hand", - "Male infertility", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", + "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", + "manual digit bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal phalanx morphology", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cellular process", + "abnormal growth", + "decreased anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "decreased height of the anatomical entity", + "visual system", + "abnormal size of eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of the eye", + "orbital region", + "decreased size of the eyeball of camera-type eye", "Abnormality of the face", + "Microphthalmia", + "sense organ", + "eyeball of camera-type eye", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "simple eye", + "abnormal orbital region", "abnormal face morphology", - "U-shaped anatomical entity", "Abnormal eye morphology", - "Abnormality of the orbital region", + "camera-type eye", + "sensory system", "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", + "enucleated reticulocyte", + "abnormally decreased number of reticulocyte", + "Reticulocytopenia", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "axial skeleton plus cranial skeleton", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormality of anatomical entity physiology", + "skeleton of manus", + "abnormal manus morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", + "autopodial skeleton", + "paired limb/fin skeleton", + "abnormal digit morphology", + "absent anatomical entity", + "system", + "aplasia or hypoplasia of manual digit 1", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "agenesis of anatomical entity", + "multi-limb segment region", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "manual digit plus metapodial segment", + "digit", + "Hyperpigmentation of the skin", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "aplastic anatomical entity", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "genitourinary system", "decreased qualitatively reproductive process", "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", + "occurrent", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "entity", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "abnormal skeletal system morphology", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "appendicular skeletal system", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "face", + "aplasia or hypoplasia of manual digit", + "skeleton", + "male gamete generation", + "Cognitive impairment", + "abnormal male reproductive system", + "paired limb/fin", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "Male infertility", + "abnormal limb morphology", + "regulation of metabolic process", "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "Pancytopenia", - "abnormally decreased number of platelet", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormal bone marrow cell morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", "Abnormality of limb bone morphology", "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal appendicular skeleton morphology", + "cardiovascular system", "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "acropodium region", + "Intellectual disability", + "bone marrow", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "cell cycle", + "pectoral complex", + "trunk region element", + "Anemic pallor", + "cellular metabolic process", + "Abnormality of neutrophils", + "abnormal central nervous system morphology", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "Macule", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", + "sexual reproduction", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "Short thumb", + "Abnormality of the kidney", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormal cerebral morphology", + "abnormal blood circulation", + "arm bone", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal hematopoietic system", + "Renal agenesis", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", + "bone cell", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "thoracic cavity element", "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormality of ear physiology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", "abnormal arm", + "Atypical behavior", "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", "absent digit", - "Absent forearm bone", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "abnormal renal system", + "phenotype", + "Abnormal cell morphology", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", + "abnormally decreased number of hematopoietic cell", "phenotype by ontology source", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", + "quality", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", "abnormal phenotype by ontology source", + "absent manual digit", "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormal finger phalanx morphology", + "subdivision of trunk", + "anatomical system", + "material anatomical entity", + "Hypergonadotropic hypogonadism", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "continuant", + "abnormal neutrophil", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "abnormal nervous system", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "skeletal element", + "zeugopod", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "regional part of nervous system", + "abdominal segment element", + "abnormal reproductive system morphology", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", + "biological regulation", + "abdominal segment of trunk", + "biological_process", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "abnormal head morphology", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "abnormal gamete generation", + "leukocyte", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "abnormality of nervous system physiology", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "limb endochondral element", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Decreased fertility in males", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", - "continuant", - "Abnormality of brain morphology", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", "abnormal limb bone", "Abnormal nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", - "absent radius bone in the independent continuant", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "skeleton of manual digitopodium", + "primary circulatory organ", + "manual digit 1 plus metapodial segment", + "abdomen", + "viscus", + "abnormal hematopoietic cell morphology", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Absent forearm bone", + "Leukemia", "abnormal cell morphology", "abnormal nervous system morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", + "organism", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "Abnormal granulocyte count", + "eye", + "compound organ", + "limb long bone", + "zeugopodial skeleton", + "Abnormal granulocyte morphology", + "neutrophil", + "manual digit 1 phalanx", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "multicellular organismal reproductive process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "decreased length of manual digit", + "abnormal craniocervical region morphology", + "immaterial entity", "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "Abnormality of head or neck", "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", + "abnormal reproductive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Decreased head circumference", + "abnormal telencephalon morphology", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "circulatory organ", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", "abnormal long bone morphology", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", "abnormal heart morphology", - "delayed growth", + "aplasia or hypoplasia of radius bone", + "Abnormal reproductive system morphology", "abnormal cardiovascular system", - "Abnormality of bone marrow cell morphology", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "Abnormality of skin morphology", "Abnormality of the integument", "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", + "Abnormality of bone marrow cell morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", + "Neutropenia", + "reproductive structure", + "abnormal integument", + "Growth delay", + "kidney", + "abnormal biological_process", "Cafe-au-lait spot", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", "abnormal pigmentation in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", + "Abnormal forearm bone morphology", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Decreased fertility", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", + "Abnormal heart morphology", "abnormality of reproductive system physiology", - "Hypogonadism", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", + "limb segment", + "absent sperm", + "Abnormality of reproductive system physiology", + "gamete", + "Puberty and gonadal disorders", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "oxygen accumulating cell", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", + "absent kidney", "Absent radius", - "Aplasia/Hypoplasia of the radius", - "absent radius bone in the forelimb", - "absent anatomical entity in the skeletal system", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the vasculature", + "abnormal radius bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "forelimb zeugopod", + "abnormal testis morphology", "aplastic forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone", - "abnormal forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", + "absent forelimb zeugopod bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "eukaryotic cell", "abnormal limb long bone morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "abnormal cellular metabolic process", - "Abnormality of cardiovascular system morphology", + "Aplasia involving bones of the upper limbs", + "Pallor", "abnormal bone of pectoral complex morphology", - "abnormal anatomical entity", - "Abnormal forearm morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb zeugopod skeleton", + "abnormal size of skull", + "forelimb long bone", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal brain morphology", "abnormal number of anatomical enitites of type platelet", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "abnormal male reproductive system morphology", + "manual digit", + "abnormal multicellular organismal reproductive process", + "abnormal granulocyte morphology", + "Azoospermia", + "Abnormal testis morphology", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "absent gamete", + "organism substance", + "interphase", + "semen", + "Abnormality of male external genitalia", + "anatomical entity", + "decreased qualitatively biological_process", + "platelet", + "absent sperm in the independent continuant", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "developmental process involved in reproduction", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "germ cell", + "external male genitalia", + "testis", + "Abnormal external genitalia", + "abnormal gamete", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "male organism", + "male germ cell", + "internal genitalia", + "abnormal internal genitalia", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "sensory perception", + "abnormal developmental process", + "haploid cell", + "sperm", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "skeleton of digitopodium", + "Short digit", + "Short finger", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "reticulocyte", ], }, { @@ -1089,10 +1724,10 @@ def autocomplete_response(): ], "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", "HP:0007018", - "HP:0000582", "HP:0008551", + "HP:0040012", + "HP:0000582", "HP:0000470", "HP:0009777", "HP:0004590", @@ -1102,8 +1737,8 @@ def autocomplete_response(): "HP:0000465", "HP:0000957", "HP:0002023", - "HP:0000316", "HP:0001510", + "HP:0000316", "HP:0001776", "HP:0000347", "HP:0003974", @@ -1127,10 +1762,10 @@ def autocomplete_response(): "HP:0000089", ], "has_phenotype_label": [ - "Chromosome breakage", "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", "Microtia", + "Chromosome breakage", + "Upslanted palpebral fissure", "Short neck", "Absent thumb", "Hypoplastic sacrum", @@ -1140,8 +1775,8 @@ def autocomplete_response(): "Webbed neck", "Cafe-au-lait spot", "Anal atresia", - "Hypertelorism", "Growth delay", + "Hypertelorism", "Bilateral talipes equinovarus", "Micrognathia", "Absent radius", @@ -1166,1050 +1801,1786 @@ def autocomplete_response(): ], "has_phenotype_count": 36, "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0087355", + "UPHENO:0081210", + "UPHENO:0087123", + "HP:0005528", + "UBERON:0000479", + "HP:0002715", + "HP:0005561", "UPHENO:0085195", - "UPHENO:0002948", + "HP:0012145", + "UPHENO:0087355", "UPHENO:0087278", - "HP:0000422", + "UPHENO:0006147", + "UPHENO:0006161", "HP:0000431", + "UBERON:0008340", "UPHENO:0081800", "HP:0000568", + "HP:0100887", "HP:0008056", - "UPHENO:0075219", - "UPHENO:0069523", "UPHENO:0000552", - "UPHENO:0050372", - "HP:0012447", - "UPHENO:0050406", - "HP:0002715", - "HP:0002188", - "UPHENO:0062527", + "GO:0048709", "HP:0012448", - "UPHENO:0084007", + "UPHENO:0050372", + "GO:0048869", + "GO:0007399", + "GO:0032291", + "GO:0010001", + "GO:0022008", + "HP:0000122", + "UPHENO:0076779", + "UPHENO:0083952", + "UBERON:8450002", + "UPHENO:0026980", "UPHENO:0008593", - "HP:0000079", - "HP:0012210", - "HP:0010935", + "UBERON:0000916", + "UPHENO:0087427", + "GO:0030154", + "UBERON:0002113", + "UBERON:0011143", "HP:0012130", - "UPHENO:0084928", - "HP:0001871", + "CL:0000232", + "CL:0000763", + "GO:0014003", "HP:0001877", + "UPHENO:0085118", + "UBERON:0002390", "HP:0001903", + "UPHENO:0004459", + "HP:0020047", + "UPHENO:0087430", + "UPHENO:0082454", "UPHENO:0041458", + "UPHENO:0041080", + "UPHENO:0075219", + "HP:0005105", + "UBERON:0000004", "HP:0000366", - "HP:0000436", - "UPHENO:0088168", + "UBERON:0002268", "UPHENO:0082467", - "UPHENO:0002597", - "HP:0000054", - "HP:0003241", - "HP:0008736", - "UPHENO:0000553", + "UPHENO:0081585", + "UPHENO:0082356", + "UPHENO:0041203", + "HP:0000436", + "UBERON:0000989", + "UBERON:0001008", + "UPHENO:0081320", + "HP:0000032", + "HP:0001871", + "UBERON:0000079", + "UBERON:0008811", + "UBERON:0004053", + "UPHENO:0080209", "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "HP:5201015", + "HP:0008736", + "HP:0010935", + "UPHENO:0002907", + "HP:0003241", + "UPHENO:0087802", + "HP:0000054", + "HP:0010461", + "UPHENO:0050406", + "HP:0000811", + "UBERON:0003101", + "UPHENO:0002948", + "UPHENO:0087643", + "UBERON:0001716", + "UBERON:0002553", + "UBERON:0001709", + "UPHENO:0033635", + "UPHENO:0075655", + "HP:0000175", + "UBERON:0004089", + "UPHENO:0076786", + "UBERON:0000464", "HP:0000202", - "HP:0000174", - "UPHENO:0006147", - "UPHENO:0087585", - "UPHENO:0033572", + "NCBITaxon:6072", + "UBERON:0000063", + "UBERON:0000073", + "NCBITaxon:131567", + "NCBITaxon:1", + "UPHENO:0076720", + "NCBITaxon:33154", + "UPHENO:0020013", + "UBERON:0002028", + "UBERON:0002037", + "UBERON:0001895", + "UPHENO:0081601", + "UBERON:0004732", + "HP:0011283", + "NCBITaxon:2759", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", "UPHENO:0080089", - "HP:0001321", - "UPHENO:0068984", - "UPHENO:0087548", - "UPHENO:0033635", "HP:0002977", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0081099", - "HP:0011458", "HP:0011968", - "HP:0000811", - "HP:0025032", - "UPHENO:0063639", - "HP:0002589", "UPHENO:0063603", + "HP:0002589", "HP:0003221", - "HP:0000078", + "HP:0001263", + "UPHENO:0020950", + "UPHENO:0003053", + "UPHENO:0002642", + "UPHENO:0087547", + "HP:0000008", + "UBERON:0003134", + "UBERON:0000995", + "UPHENO:0005170", + "HP:0000130", + "UBERON:0000990", "UPHENO:0003055", - "HP:0010460", "HP:0000151", - "UPHENO:0002598", - "UPHENO:0087974", - "UPHENO:0020950", + "UBERON:0005156", + "UPHENO:0025875", + "HP:0010460", + "UBERON:0003100", "UPHENO:0009305", - "UPHENO:0087339", - "UPHENO:0026954", - "UPHENO:0026984", - "UPHENO:0025708", - "HP:0008678", - "UPHENO:0052178", - "HP:0012145", + "UBERON:0012128", + "GO:0009790", "UPHENO:0080393", - "UPHENO:0075902", - "UPHENO:0081436", - "UPHENO:0085144", - "HP:0000309", - "UPHENO:0050108", + "CL:0001035", + "UPHENO:0050034", "UPHENO:0005642", - "UPHENO:0080382", + "UPHENO:0005433", "UPHENO:0052778", - "HP:0000437", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", + "UPHENO:0002832", + "UPHENO:0041098", + "UBERON:0013515", + "GO:0032502", + "UPHENO:0068984", + "UPHENO:0050108", + "UBERON:0001423", + "UBERON:0003607", + "UBERON:0002405", + "UBERON:0003606", + "HP:0003974", "UPHENO:0076718", - "HP:0002973", - "UPHENO:0025211", - "HP:0012758", - "UPHENO:0009399", - "HP:0040072", "HP:0040070", - "UPHENO:0080187", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0020013", - "HP:0006503", "HP:0009825", + "HP:5201015", + "HP:0009822", + "HP:0000119", "UPHENO:0081511", - "UPHENO:0050034", + "UBERON:0000167", + "UPHENO:0086956", + "HP:0009823", + "UPHENO:0026023", + "UBERON:0003466", + "UBERON:0002471", + "UBERON:0010741", + "HP:0006501", + "HP:0025461", + "UPHENO:0009399", + "UBERON:0002386", + "UPHENO:0062515", + "UPHENO:0087585", + "UPHENO:0079872", "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0075182", - "UPHENO:0082454", - "UPHENO:0081566", + "HP:0003953", + "UBERON:0000165", + "UPHENO:0002828", + "UBERON:0002514", + "UBERON:0007842", + "UPHENO:0081141", + "UBERON:0004768", "UPHENO:0083646", - "HP:0009118", - "HP:0011821", - "HP:0000277", - "UPHENO:0080158", - "UPHENO:0081786", - "HP:0010461", - "UPHENO:0003053", - "HP:0000929", + "HP:0012447", + "HP:0034261", "HP:0031816", "UPHENO:0081314", - "UPHENO:0076800", - "UPHENO:0087123", + "UBERON:0007375", + "UBERON:0012360", + "GO:0007272", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0003278", + "GO:0042063", + "HP:0000036", + "UBERON:0011156", + "UBERON:0003462", + "UBERON:0001684", + "HP:0000347", + "UBERON:0003135", + "HP:0009116", + "UBERON:0000489", + "UBERON:0010323", + "HP:0002692", + "UBERON:0004756", + "HP:0030791", + "HP:0008684", "UPHENO:0081788", - "UPHENO:0080087", - "UPHENO:0086932", "UPHENO:0088116", + "HP:0001167", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0003074", + "UPHENO:0088162", + "UBERON:0004710", + "HP:0002031", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0087974", + "HP:0045060", + "HP:0002032", + "UPHENO:0086633", + "UBERON:0006072", + "HP:0040072", + "UBERON:0010912", + "UBERON:0006077", "UPHENO:0002443", - "UPHENO:0069249", - "UPHENO:0081575", - "HP:0001762", - "HP:0020047", - "HP:0005656", - "UPHENO:0041203", - "HP:0002814", - "HP:0001776", - "UPHENO:0003070", - "UPHENO:0086628", - "UPHENO:0049874", - "HP:0001510", - "HP:0001507", - "HP:0100886", - "UPHENO:0002595", - "UPHENO:0021474", - "HP:0000478", - "UPHENO:0065599", - "UPHENO:0026628", - "HP:0012372", - "UPHENO:0001072", - "UPHENO:0081141", - "UPHENO:0003020", - "UPHENO:0075655", - "HP:0009116", + "HP:0025033", + "HP:0000812", + "UPHENO:0086635", + "UBERON:0007196", + "UBERON:0008001", + "HP:0011282", + "UBERON:0002204", + "UBERON:0003458", + "UBERON:0002412", + "UPHENO:0061854", + "UPHENO:0084457", + "UBERON:0002101", + "UBERON:0002090", + "HP:0009601", + "UBERON:0034925", + "HP:0000470", + "HP:0200006", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0000033", + "CL:0000988", + "UBERON:0002413", + "UBERON:0003103", + "UPHENO:0088186", + "UBERON:0000075", + "UPHENO:0002901", + "HP:0002188", + "UPHENO:0033572", + "HP:0009815", + "HP:0025668", + "UPHENO:0076739", + "UBERON:0010363", + "HP:0009121", + "UBERON:0000015", + "HP:0011842", + "CL:0000764", + "UPHENO:0087089", + "UPHENO:0003085", + "UBERON:0015007", "HP:0000316", - "HP:0009892", - "UPHENO:0074228", - "UPHENO:0086644", - "UPHENO:0062515", - "HP:0004378", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "UPHENO:0081320", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0000122", - "UPHENO:0002839", - "HP:0034915", - "HP:0011297", - "UPHENO:0087472", - "HP:0000369", - "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0082356", - "UPHENO:0084761", - "HP:0011121", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0002813", - "HP:0002032", - "HP:0003974", - "UPHENO:0076703", - "UPHENO:0046505", - "UPHENO:0076724", - "HP:0000924", - "HP:0001155", - "HP:0000032", - "UPHENO:0022529", - "HP:0000465", - "UPHENO:0002903", - "HP:0002575", - "UPHENO:0026506", - "UPHENO:0041226", - "HP:0011355", - "UPHENO:0081091", - "UPHENO:0081790", - "UPHENO:0049586", - "UPHENO:0087806", - "UPHENO:0074584", - "UPHENO:0026181", - "UPHENO:0080165", - "HP:0002921", - "UPHENO:0081210", - "HP:0001883", + "GO:0022010", "UPHENO:0087563", - "HP:0100887", - "UPHENO:0005170", - "UPHENO:0003074", - "UPHENO:0068971", - "HP:0012759", - "UPHENO:0080111", - "UPHENO:0075195", - "HP:0011793", - "UPHENO:0069196", - "UPHENO:0049990", - "UPHENO:0082682", - "HP:0005105", - "UPHENO:0000541", - "UPHENO:0076785", - "HP:0000752", - "UPHENO:0005597", - "UPHENO:0081792", - "UPHENO:0087478", - "UPHENO:0086595", + "UPHENO:0005016", + "HP:0001883", + "UBERON:0034921", + "UBERON:0005451", + "UBERON:0002371", + "UPHENO:0075997", + "UBERON:0006983", + "GO:0008150", + "UPHENO:0076703", + "HP:0000582", + "BFO:0000003", + "UPHENO:0080171", + "UBERON:0000047", + "CL:0000081", + "UBERON:0000064", + "UBERON:0005434", + "UBERON:0002529", + "UBERON:0001711", + "GO:0010556", + "PR:000050567", + "GO:0044237", + "UPHENO:0002813", + "UPHENO:0025100", "HP:0000492", - "UPHENO:0001002", + "UBERON:0007914", "UPHENO:0087924", - "UPHENO:0020584", - "HP:0002813", - "HP:0000271", - "HP:0011283", - "UPHENO:0075997", - "UPHENO:0082129", - "HP:0008050", - "UPHENO:0005016", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "HP:0000315", - "UPHENO:0005986", - "HP:0001574", - "UPHENO:0021304", + "UBERON:0001137", + "UPHENO:0001002", + "HP:0000163", + "UBERON:0002103", + "UPHENO:0076761", "HP:0032039", - "UPHENO:0041041", - "UPHENO:0087006", - "UPHENO:0085118", - "UPHENO:0080196", - "HP:0000001", - "HP:0007400", - "HP:0008772", - "HP:0001939", - "UPHENO:0031839", - "UPHENO:0001003", - "HP:0000153", - "HP:0006265", + "UPHENO:0021791", + "UBERON:0003133", + "UBERON:5006048", + "CL:0000329", + "UBERON:0001474", + "HP:0001321", + "GO:0006259", + "UPHENO:0087806", + "HP:0000708", + "UBERON:0001456", + "GO:0008366", + "HP:0000752", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", + "UBERON:0011138", + "UBERON:0002513", + "GO:0048468", "UPHENO:0084012", - "UPHENO:0041098", - "UPHENO:0003085", - "UPHENO:0087089", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0050845", - "HP:0011282", - "UPHENO:0074589", + "GO:0031323", + "UPHENO:0026628", + "UBERON:0000019", + "UBERON:0010708", + "UBERON:0000970", + "UBERON:0004742", + "CL:0000000", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0002934", + "UPHENO:0004536", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0012141", + "HP:0002664", + "UBERON:0001130", + "UBERON:0000465", + "HP:0003220", + "HP:0010938", + "HP:0008050", + "GO:0043170", + "HP:0000437", + "GO:0006139", + "GO:0046483", + "UPHENO:0084766", + "GO:0010629", + "UBERON:0003457", + "UPHENO:0050021", + "UPHENO:0050121", + "UBERON:0008785", + "GO:0048731", + "GO:0031327", + "UBERON:0011584", + "UBERON:0004923", + "UPHENO:0080382", + "HP:0001000", + "UPHENO:0002910", + "GO:0009890", + "GO:0031324", + "UPHENO:0031839", + "GO:0071824", + "UBERON:0010313", + "UPHENO:0069249", + "UPHENO:0076692", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0075195", + "UPHENO:0000541", + "GO:0010468", + "HP:0000598", + "HP:0000152", + "UPHENO:0088168", + "UPHENO:0076805", + "UBERON:0004451", + "UPHENO:0076760", + "UPHENO:0086595", + "UBERON:0001691", + "UPHENO:0084763", + "UPHENO:0018414", + "UPHENO:0049622", "HP:0012638", - "UPHENO:0041080", + "GO:0010558", + "NBO:0000313", "UPHENO:0001005", - "UPHENO:0003058", - "HP:0000925", - "HP:5200044", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "HP:0003220", - "UPHENO:0012541", - "UPHENO:0080585", - "UPHENO:0069110", - "UPHENO:0086699", - "UPHENO:0086700", - "HP:0011017", - "HP:0006501", - "UPHENO:0087907", - "HP:0012252", - "UPHENO:0084457", - "UPHENO:0002828", - "HP:0000951", - "HP:0030791", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0088170", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0000470", - "HP:0200006", - "UPHENO:0086589", - "UPHENO:0076791", - "UPHENO:0080209", - "UPHENO:0087802", - "HP:0001000", - "HP:0000812", - "HP:0002778", - "HP:0007018", - "UPHENO:0050021", - "HP:0000598", - "BFO:0000001", - "UPHENO:0002910", - "UPHENO:0049748", - "UPHENO:0055730", - "UPHENO:0076723", - "UPHENO:0080171", - "HP:0000582", - "HP:0001263", - "UPHENO:0009396", - "HP:0008517", - "HP:0005561", - "UPHENO:0083952", - "UPHENO:0049873", - "UPHENO:0002934", - "UPHENO:0004536", - "HP:0009122", - "UPHENO:0004523", - "UPHENO:0046571", - "HP:0001172", - "HP:0000118", - "HP:0011446", - "UPHENO:0087374", - "UPHENO:0076752", - "HP:0001760", - "UPHENO:0072195", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0000104", - "UPHENO:0050113", - "HP:0000008", - "UPHENO:0015280", - "UPHENO:0004459", - "UPHENO:0054957", - "UPHENO:0061854", - "HP:0008684", - "HP:0009777", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0031703", - "HP:0008771", + "UBERON:0015212", + "UPHENO:0087478", + "BFO:0000040", + "UPHENO:0025708", + "HP:0000929", + "GO:0034641", + "UPHENO:0002597", "UPHENO:0002764", - "HP:0025354", - "BFO:0000002", + "HP:0025032", + "UPHENO:0026984", + "HP:0031703", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0000951", + "RO:0002577", + "UBERON:0010703", + "UBERON:0000955", + "HP:0000234", "HP:0000736", + "BFO:0000002", "HP:0012639", - "UPHENO:0076720", - "HP:0000708", - "UPHENO:0082875", - "UPHENO:0087846", - "UPHENO:0056237", - "UPHENO:0049622", - "HP:0000464", - "HP:0011400", - "HP:0000175", - "UPHENO:0081783", - "UPHENO:0086824", + "UBERON:0006800", + "HP:0012758", + "HP:0002011", + "UPHENO:0074575", "UPHENO:0086172", - "HP:0000707", - "HP:0002817", - "HP:0000163", - "UPHENO:0002433", - "HP:0009121", - "UPHENO:0081435", - "UPHENO:0021791", - "UPHENO:0080662", - "UPHENO:0087510", - "UPHENO:0018424", + "GO:0050789", + "GO:0019222", + "UBERON:0004086", + "UBERON:0000153", + "HP:0008771", + "UPHENO:0049873", + "GO:0050896", + "UBERON:0011582", "HP:0000357", - "HP:5200045", - "UPHENO:0080110", - "HP:0005528", - "UPHENO:0076761", - "UPHENO:0020659", - "UPHENO:0002896", - "UPHENO:0080300", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0003811", - "UPHENO:0081598", - "UPHENO:0002880", - "UPHENO:0002830", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0083951", - "UPHENO:0026023", - "HP:0012733", - "HP:0010938", - "UPHENO:0087643", - "UPHENO:0072194", - "UPHENO:0075878", - "HP:0006496", - "HP:0000356", - "UPHENO:0014240", - "HP:0002031", - "UPHENO:0084448", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0076740", - "UPHENO:0076760", - "HP:0011024", - "UPHENO:0018414", - "UPHENO:0084763", - "UPHENO:0076779", - "UPHENO:0088185", - "UPHENO:0011498", + 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"UBERON:0005281", + "UBERON:0000154", + "UBERON:0002616", + "UPHENO:0002964", + "UBERON:0001032", + "UPHENO:0026181", "HP:0012443", - "UPHENO:0006161", - "HP:0002118", - "UPHENO:0087430", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0088185", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "HP:0002813", + "GO:0071840", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UPHENO:0025211", + "UPHENO:0087548", + "UBERON:0000061", + "UBERON:0035639", + "GO:1901360", "UPHENO:0056333", - "HP:0001511", - "UPHENO:0000543", - "UPHENO:0081784", - "HP:0009823", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0011121", + "UBERON:0000481", "HP:0000957", "HP:0001034", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", - "HP:0002692", - "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0008523", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "UPHENO:0078606", + "HP:0006265", + "HP:0002023", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0087339", + "HP:0034915", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000466", + "HP:0011400", + "HP:0012372", + "HP:0000478", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0005656", + "HP:0001776", + "HP:0000925", + "UBERON:0008784", + "UBERON:0010709", + "UPHENO:0072195", + "HP:0002814", + "HP:0006496", "UPHENO:0050008", - "UPHENO:0025875", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739", + "UPHENO:0003070", + "UPHENO:0081575", + "HP:0011821", + "HP:0009118", ], "has_phenotype_closure_label": [ - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the immune system", + "decreased size of the kidney", + "bone marrow", + "bone cell", "abnormal immune system", - "abnormal bone marrow cell morphology", + "Abnormality of bone marrow cell morphology", + "tissue", + "Bone marrow hypocellularity", + "abnormal immune system morphology", + "snout", "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "abnormal snout morphology", + "increased width of nasal bridge", "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal myelination", - "delayed central nervous system myelination", + "Abnormality of globe size", + "Aplasia/Hypoplasia affecting the eye", + "delayed central nervous system myelination", + "abnormal biological_process in central nervous system", + "Abnormal myelination", + "central nervous system myelination", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal hematopoietic system morphology", + "system development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "cellular developmental process", + "nervous system development", + "glial cell differentiation", + "abnormal central nervous system myelination in independent continuant", + "absent kidney", "abnormal kidney morphology", "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "absent kidney", + "Abnormality of the kidney", + "excretory system", + "abnormal upper urinary tract", + "abdomen element", + "cavitated compound organ", + "absent anatomical entity in the renal system", "abnormal renal system", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "abnormal renal system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal bone marrow cell", - "Anemia", - "Abnormal myeloid cell morphology", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "abnormal external nose morphology", - "abnormal myelination", + "renal system", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormal myeloid cell morphology", + "hematopoietic system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "abnormal cell morphology", "abnormal erythrocyte morphology", - "Depressed nasal tip", - "abnormal nose", + "abnormal hematopoietic system", + "flat nose tip", "Abnormal nasal tip morphology", + "olfactory organ", + "abnormal size of eyeball of camera-type eye", + "nose tip", + "nose", "abnormal nose morphology", + "Abnormality of the nose", + "flattened anatomical entity in independent continuant", + "Abnormal external nose morphology", + "curvature anatomical entity", + "decreased size of the external male genitalia", + "Abnormal external genitalia", + "external male genitalia", + "male reproductive system", "Abnormality of male external genitalia", - "abnormal external male genitalia", - "abnormal male reproductive organ morphology", - "decreased size of the penis", - "abnormal male reproductive system", - "penis hypoplasia", - "Abnormality of globe size", + "Hypoplasia of penis", + "Abnormal renal morphology", + "abnormal external genitalia", + "abnormal penis", + "External genital hypoplasia", "Abnormal penis morphology", - "Abnormal external genitalia", - "Micropenis", "abnormal male reproductive system morphology", - "abnormal external male genitalia morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "External genital hypoplasia", - "Abnormal palate morphology", - "abnormal midface morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal incomplete closing of the secondary palate", "Craniofacial cleft", + "Abnormal oral cavity morphology", + "anatomical cavity", + "abnormal roof of mouth morphology", + "Orofacial cleft", "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Abnormal hindbrain morphology", - "Aplasia/Hypoplasia of the cerebellum", + "abnormal incomplete closing of the secondary palate", + "abnormal midface morphology", + "Eumetazoa", + "hindbrain", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "cerebellum hypoplasia", + "segmental subdivision of nervous system", + "regional part of brain", + "abnormal external male genitalia", "abnormal anatomical entity morphology in the brain", - "Abnormal cerebellum morphology", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "root", + "Abnormal midface morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "abnormal metencephalon morphology", "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "Wide nasal bridge", - "Abdominal symptom", - "alimentary part of gastrointestinal system atresia", + "Feeding difficulties", + "Esophageal atresia", + "esophagus atresia", + "Chromosomal breakage induced by crosslinking agents", "Neurodevelopmental abnormality", - "Neurodevelopmental delay", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Abnormality of the genital system", - "abnormal female reproductive organ morphology", + "abnormal female reproductive system", + "abnormal kidney", + "abnormal reproductive system", + "internal genitalia", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "Wide nasal bridge", "abnormal internal female genitalia morphology", - "Aplasia of the uterus", - "Abnormality of the genitourinary system", + "female organism", + "bone marrow cell", + "internal female genitalia", + "genitourinary system", + "abnormal uterus", + "aplasia or hypoplasia of uterus", + "reproductive structure", "Abnormal morphology of female internal genitalia", - "abnormal female reproductive system", - "Aplasia/hypoplasia of the uterus", - "absent anatomical entity in the reproductive system", - "abnormal female reproductive system morphology", - "absent uterus", - "absent external ear in the independent continuant", + "Aplasia of the uterus", + "female reproductive system", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "Abnormality of the uterus", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", "Anotia", - "decreased developmental process", + "absent anatomical entity in the head", + "absent external ear in the head", + "absent external ear", + "abnormal embryo development", + "Intrauterine growth retardation", + "abnormal secondary palate morphology", "abnormal developmental process", + "decreased developmental process", + "Hypoplastic male external genitalia", + "anatomical structure development", + "multicellular organism development", "decreased embryo development", - "aplasia or hypoplasia of cerebellum", + "abnormal genitourinary system", "changed developmental process rate", - "Abnormal upper limb bone morphology", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "abnormal long bone morphology", - "abnormal limb long bone morphology", + "changed embryo development rate", + "decreased qualitatively developmental process", + "arm bone", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", + "abnormal erythroid lineage cell morphology", "Abnormal morphology of the radius", + "limb long bone", "absent radius bone in the forelimb", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "Aplasia/hypoplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", "Aplasia/Hypoplasia of the radius", - "Absent radius", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", - "shape nose tip", - "anatomical entity hypoplasia in face", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "bone element hypoplasia in face", - "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal embryo development", - "abnormal mouth morphology", + "embryo development", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "Micrognathia", "abnormal jaw skeleton morphology", - "abnormal head bone morphology", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "dermal bone", + "jaw skeleton", + "facial skeleton", + "mandible", + "immune system", + "facial bone", + "Hypoplastic facial bones", + "abnormal mouth", + "abnormal hematopoietic cell morphology", + "primary subdivision of cranial skeletal system", + "primary subdivision of skull", + "cranial skeletal system", + "facial bone hypoplasia", + "Abnormality of the genital system", + "intramembranous bone", "abnormal facial skeleton morphology", - "abnormal genitourinary system", - "Abnormal foot morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "Growth delay", - "increased anatomical entity length in independent continuant", - "absent external ear", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "abnormal nasal bridge morphology", - "Hypertelorism", - "abnormal upper urinary tract", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormality of the eye", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal immune system morphology", + "abnormal nose", "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "abnormal digit morphology", + "Abnormal appendicular skeleton morphology", + "Cleft palate", + "behavior", + "abnormal manus morphology", + "pectoral appendage skeleton", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal arm", + "skeletal element", + "system", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "bone of dorsum", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "bone element", + "dorsum", + "cervical region", + "organ system subdivision", + "Abnormality of the anus", + "paired limb/fin skeleton", + "vertebral column", + "Abnormality of the eye", + "abnormal pes morphology", "decreased length of anatomical entity in independent continuant", - "abnormal neck morphology", - "Aplasia/Hypoplasia of the ear", - "abnormal forelimb morphology", "Abnormality of the musculoskeletal system", - "Cafe-au-lait spot", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of manual digit 1", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "cervical vertebra", + "membrane bone", + "abnormal cervical vertebra", + "dentary", + "appendage", "abnormal vertebral column", - "fused sacrum hypoplasia", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "skeletal system", + "Abnormality of the vertebral column", + "Macule", + "Opisthokonta", "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "decreased size of the anatomical entity", - "Abnormal midface morphology", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "aplasia or hypoplasia of ear", - "Microphthalmia", - "Abnormal neck morphology", - "abnormal skeletal system", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "Abnormality of the ear", - "changed embryo development rate", - "Intrauterine growth retardation", - "abnormal manual digit 1 morphology", - "abnormal fused sacrum morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "abnormal manual digit morphology in the independent continuant", - "decreased size of the kidney", - "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", + "Abnormal eyelid morphology", + "skeleton", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "Abnormality of limbs", + "paired limb/fin segment", + "orbital region", + "abnormal anatomical entity morphology in the manus", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "upper jaw region", "Abnormality of the ocular adnexa", - "Abnormality of mental function", - "abnormal chromatin organization", + "simple eye", + "cellular metabolic process", + "Atypical behavior", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal orbital region", + "ensheathment of neurons", + "regulation of cellular process", + "ocular adnexa", + "camera-type eye", + "abnormal face", + "acropodium region", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "Renal agenesis", + "abnormal respiratory system", + "secondary palate", + "organism", + "irregular bone", "Chromosome breakage", - "kidney hypoplasia", - "Finger aplasia", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "quality", - "abnormal nitrogen compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", - "phenotype", - "absent external ear in the head", - "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal chromatin organization", "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "subdivision of skeleton", + "endochondral bone", + "Abnormality of the ear", + "eyelid", + "decreased size of the penis", + "Abnormality of the lower limb", + "Growth abnormality", + "axial skeletal system", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormal anus morphology", + "Abnormality of the face", + "manual digit 1", + "autopodial extension", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "negative regulation of biological process", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "Abnormality of multiple cell lineages in the bone marrow", "abnormal programmed DNA elimination by chromosome breakage", - "abnormal snout morphology", - "abnormal face", - "abnormal metabolic process", + "specifically dependent continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "sensory system", + "abnormal nervous system", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", "Abnormal forearm morphology", - "decreased size of the mandible", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "Abnormal skeletal morphology", + "forelimb", + "material anatomical entity", + "abnormal metabolic process", + "Depressed nasal tip", + "Abnormality of mental function", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "abnormal eyelid morphology", + "manus", + "Abnormality of digestive system morphology", + "radius endochondral element", + "abnormal behavior", + "Abnormal cellular phenotype", + "roof of mouth", + "Abnormality of the orbital region", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "thoracic cavity element", + "Abnormal neck morphology", + "negative regulation of gene expression", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "posterior region of body", + "chromatin organization", + "organ part", + "decreased size of the external ear", + "Anemia", + "radius bone", + "Abnormality of the hand", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal tracheobronchial morphology", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "entity", + "Hyperactivity", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "craniocervical region", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "response to stimulus", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "female reproductive organ", + "long bone", + "negative regulation of biosynthetic process", + "material entity", + "pelvic region element", + "abnormal ocular adnexa", + "abnormal location of ear", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", "abnormal anatomical entity", - "Abnormality of the outer ear", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", "continuant", - "abnormal craniocervical region morphology", - "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", - "abnormal integument", - "Morphological central nervous system abnormality", - "abnormal behavior process", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "abnormal neck", - "Atypical behavior", + "organic cyclic compound metabolic process", + "segment of autopod", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal DNA metabolic process", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "behavior process", + "decreased size of the mandible", "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormality of the head", - "abnormal anus", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal organelle organization", - "Abnormal CNS myelination", - "abnormal development of anatomical entity", - "abnormal digit", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal cellular process", - "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Slanting of the palpebral fissure", - "increased width of nasal bridge", - "Abnormal tracheobronchial morphology", - "abnormal biological_process", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "aplasia or hypoplasia of ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "Finger aplasia", + "Reduced impulse control", + "abnormal location of external ear", + "forelimb zeugopod bone", + "nervous system", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "ear", + "anatomical entity hypoplasia in face", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "pelvic region of trunk", + "macromolecule metabolic process", + "dermal skeletal element", + "subdivision of organism along main body axis", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "Microtia", + "Renal hypoplasia", + "bone of lower jaw", + "mandible hypoplasia", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", "aplasia or hypoplasia of external ear", - "abnormal cell", - "abnormal limb morphology", - "abnormal reproductive system", + "pes", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "non-connected functional system", + "abnormal size of anatomical entity", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "Attention deficit hyperactivity disorder", + "abnormal leg", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", + "Eukaryota", + "negative regulation of cellular metabolic process", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "absent digit", + "abnormal head bone morphology", + "dorsal part of neck", + "Abnormal pinna morphology", + "external ear", + "Aplasia/Hypoplasia of the ear", + "Abnormality of the skeletal system", + "trachea", + "curvature anatomical entity in independent continuant", + "abnormal limb", + "negative regulation of cellular process", "Abnormality of head or neck", - "entity", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "abnormal behavior", - "Abnormality of digestive system morphology", - "abnormal limb", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "delayed biological_process in central nervous system", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Abnormality of the orbital region", - "absent anatomical entity in the multicellular organism", - "decreased size of the eyeball of camera-type eye", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "flat anatomical entity", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "regulation of biological process", + "lateral structure", "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "abnormal cervical vertebra", + "decreased qualitatively biological_process", + "anatomical entity", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "abnormal cellular process", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "anterior region of body", + "aplastic anatomical entity", + "main body axis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "abnormal opening of the anatomical entity", + "dorsal region element", + "abnormal primary metabolic process", + "body proper", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "decreased size of the anatomical entity in the independent continuant", + "protein-DNA complex organization", + "vestibulo-auditory system", + "axon ensheathment in central nervous system", + "eye", + "compound organ", + "cellular process", + "Abnormal digit morphology", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal face morphology", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "cellular component organization", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "neurogenesis", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "lower jaw region", + "abnormal digit", + "thoracic segment of trunk", + "Abnormality of metabolism/homeostasis", + "visual system", "aplastic manual digit 1", + "Abnormal sacrum morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "anatomical conduit", + "abnormal limb morphology", + "paired limb/fin", + "mesoderm-derived structure", + "developmental process", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "autopod region", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of the thumb", + "cell differentiation", + "appendicular skeletal system", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "arm", + "Abnormal erythrocyte morphology", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "abnormal respiratory system", - "Abnormality of limb bone", - "flat anatomical entity in independent continuant", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "forelimb skeleton", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", - "abnormal arm", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "dermatocranium", + "pectoral complex", + "digit", + "abnormal female reproductive system morphology", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "multi-limb segment region", + "agenesis of anatomical entity", "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "external soft tissue zone", + "digit plus metapodial segment", + "abnormally increased number of brain ventricle in the independent continuant", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "skeleton of lower jaw", + "abnormal digit morphology", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "Delayed myelination", + "Abnormality of skin pigmentation", + "shape nose tip", + "Abnormality of globe location", + "limb bone", + "cell development", + "skeleton of manus", + "Hypertelorism", "bone element hypoplasia in independent continuant", - "Delayed CNS myelination", - "Hyperactivity", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal trachea morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal mouth", - "Abnormal ear morphology", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormal manus morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "abnormal limb bone morphology", - "Cerebellar hypoplasia", - "Abnormal metencephalon morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Hypoplastic sacrum", + "abnormal fused sacrum morphology", "Aplasia/Hypoplasia of the sacrum", - "Abnormal sacrum morphology", - "Abnormality of the neck", - "abnormal vertebral column morphology", - "Abnormal external nose morphology", + "bony pelvis", + "Delayed CNS myelination", + "fused sacrum", + "fused sacrum hypoplasia", + "skull", + "limb skeleton subdivision", "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", + "reproductive system", + "sacral region", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "Short attention span", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "pelvic appendage", + "respiratory tube", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", + "abnormal pigmentation in independent continuant", + "abnormal respiratory tube morphology", + "subdivision of tube", + "Abnormality of the cervical spine", + "abnormal digestive system", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "digestive tract", + "oral cavity", + "Morphological abnormality of the gastrointestinal tract", + "Neoplasm", "Tracheoesophageal fistula", - "abnormally increased number of anatomical entity", + "abnormal esophagus morphology", + "pectoral appendage", + "regulation of gene expression", + "respiratory system", + "programmed DNA elimination", + "obsolete cell", + "digestive system", + "penis", + "digestive system element", + "kidney", + "abnormal biological_process", + "Growth delay", + "respiratory airway", + "tube", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormal tracheal morphology", + "thoracic segment organ", + "vertebral element", + "viscus", + "abnormal organelle organization", "abnormal respiratory system morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", "Abnormal esophagus morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "Abnormal tracheal morphology", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", + "Abnormality of the respiratory system", "abnormal tracheobronchial tree morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Delayed myelination", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "myelination", "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal ocular adnexa", - "abnormal location of ear", - "Decreased external ear position", + "abnormally increased number of anatomical entity", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "abnormal brain morphology", + "organism substance", + "ventricular system of central nervous system", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "abnormal anus morphology", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormal cell morphology", + "lower limb segment", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormality of limb bone", + "central nervous system", + "anatomical point", + "ventricle of nervous system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "abnormal nervous system morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", "abnormal anatomical entity topology in independent continuant", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Abnormal location of ears", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Abnormality of the gastrointestinal tract", - "Webbed neck", "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", + "abnormal location of anatomical entity", + "Decreased external ear position", + "external nose", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal external ear", + "increased biological_process", + "increased size of the anatomical entity in independent continuant", "Abnormality of the integument", + "Neurodevelopmental delay", "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", + "integumental system", + "integument", + "abnormal anatomical entity morphology", + "increased pigmentation", "changed biological_process rate in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "reproductive organ", + "abnormal skull morphology", + "abnormal palpebral fissure", "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "Abnormality of the anus", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "delayed growth", + "abnormal location of eyeball of camera-type eye", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Low-set ears", + "Abnormal jaw morphology", + "abnormal head", + "jaw region", + "cell", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone", ], }, { @@ -2303,936 +3674,1572 @@ def autocomplete_response(): ], "has_phenotype_count": 32, "has_phenotype_closure": [ + "UPHENO:0041226", + "HP:0000085", "UPHENO:0082129", - "UPHENO:0041821", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0082444", "UPHENO:0049964", "HP:0003254", - "UPHENO:0049671", + "HP:0003213", "UPHENO:0051124", - "UPHENO:0049952", - "HP:0003214", - "HP:0000365", - "UPHENO:0052231", + "GO:0006950", + "GO:0051716", + "GO:0051319", + "GO:0007049", + "GO:0022402", + "UBERON:0002105", + "GO:0007605", + "GO:0050954", + "HP:0000364", + "UPHENO:0050625", "HP:0000598", "UPHENO:0005518", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0012373", + "UPHENO:0041075", + "GO:0007600", + "UPHENO:0052970", + "HP:0000486", + "NBO:0000444", + "UBERON:0006800", "HP:0000549", + "UBERON:0000466", + "BFO:0000141", + "UPHENO:0049622", + "GO:0007610", + "HP:0000496", + "UPHENO:0080585", + "UBERON:0010222", + "NBO:0000338", + "HP:0011018", + "UBERON:0000015", + "GO:0050896", + "HP:0000708", "UPHENO:0079828", "UPHENO:0049586", "UPHENO:0000543", - "UPHENO:0080352", "UPHENO:0081424", - "UPHENO:0052970", - "UPHENO:0075787", + "UPHENO:0081423", + "UPHENO:0075159", "UPHENO:0080351", - "HP:0004742", + "HP:0000081", + "UPHENO:0075787", "HP:0011793", - "UPHENO:0080581", - "HP:0011028", + "HP:0002664", + "HP:0001909", + "HP:0004377", + "UBERON:0000477", + "GO:0003013", "HP:0000978", - "HP:0003213", "UPHENO:0051097", - "HP:0011025", - "UPHENO:0082444", - "UPHENO:0020041", - "HP:0009942", - "HP:0005918", - "HP:0009998", - "HP:0011018", + "HP:0001933", + "HP:0001892", + "UBERON:0007798", + "HP:0002597", + "HP:0011029", + "GO:0008015", + "UPHENO:0002678", + "UBERON:0003221", + "UBERON:0012357", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5106048", + "UBERON:5102389", + "UBERON:0010688", "HP:0011314", - "HP:0004275", + "UPHENO:0087369", + "HP:0009942", + "HP:0009943", + "UBERON:5101463", + "HP:0009602", + "UPHENO:0021800", "UPHENO:0084447", - "HP:0011017", - "HP:0002664", - "UPHENO:0078606", + "GO:0022403", + "UBERON:0004249", + "HP:0003220", + "GO:0019222", + "HP:0011354", + "GO:0006139", + "GO:0046483", + "GO:0010629", + "UPHENO:0080581", + "UPHENO:0050021", + "UPHENO:0050121", + "UPHENO:0000541", + "UBERON:0001436", + "GO:0010468", + "NBO:0000313", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0010556", + "GO:0031326", + "GO:0009890", + "HP:0011276", + "UBERON:0005897", + "GO:0010605", + "GO:0031324", + "GO:0006259", + "GO:0071824", "HP:0003221", + "UPHENO:0049990", + "UPHENO:0049873", + "GO:0005623", + "GO:0050789", + "GO:0071704", + "HP:0031704", + "GO:0006807", + "GO:0044238", + "UPHENO:0049700", + "GO:0031052", + "GO:0051325", + "GO:0060255", + "GO:0009889", + "GO:0031323", + "UBERON:0004100", + "GO:0009892", + "UBERON:0012150", + "GO:0090304", + "GO:0065007", + "GO:0008152", + "HP:0000365", + "GO:0009987", "UPHENO:0050116", - "HP:0001939", - "UPHENO:0050021", - "HP:0004377", "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049748", - "HP:0003220", + "HP:0001939", + "UPHENO:0050113", "HP:0001263", - "HP:0002597", "UPHENO:0049874", - "HP:0004325", + "UPHENO:0082794", + "UPHENO:0010795", + "UPHENO:0010763", + "GO:0006974", "HP:0004323", "UPHENO:0054299", - "UPHENO:0010763", + "GO:0040007", + "UBERON:0010543", "HP:0001507", - "HP:0001518", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0100887", - "HP:0000478", - "HP:0000271", + "UBERON:0004456", "HP:0000568", - "HP:0012372", - "UPHENO:0002910", - "HP:0000002", "UPHENO:0069523", - "UPHENO:0003020", + "UBERON:0000047", + "UPHENO:0020041", + "HP:0000271", + "UPHENO:0002910", + "UPHENO:0080209", + "UBERON:0010230", + "UPHENO:0087924", + "HP:0100887", + "HP:0000478", + "UPHENO:0087472", + "HP:0008056", + "UPHENO:0075219", + "HP:0011025", + "HP:0000315", + "GO:0033554", + "UBERON:0000970", + "UBERON:0001456", + "UBERON:0004088", + "UBERON:0000020", + "UBERON:0000019", "HP:0004312", - "UPHENO:0085263", "HP:0001896", + "UPHENO:0086002", + "UPHENO:0049588", + "CL:0000558", "UPHENO:0012541", - "HP:0009381", - "UPHENO:0031839", - "UPHENO:0046411", - "UPHENO:0041465", - "UPHENO:0046505", - "UPHENO:0046624", - "UPHENO:0068971", - "HP:0000496", - "UPHENO:0087472", - "UPHENO:0046707", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", - "HP:0002818", - "UPHENO:0076718", - "HP:0002973", - "HP:0040072", - "HP:0031704", - "HP:0040070", - "UPHENO:0080187", - "HP:0000085", - "HP:0003953", - "UPHENO:0025945", - "HP:0006503", - "UPHENO:0081511", - "UPHENO:0087510", - "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0002597", - "UPHENO:0053298", - "UPHENO:0005597", - "UPHENO:0050101", - "HP:0009825", - "HP:0012874", - "HP:0000812", - "HP:0000811", - "HP:0000028", - "UPHENO:0041226", - "UPHENO:0086023", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0021474", - "UPHENO:0002595", - "HP:0009943", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0041629", - "UPHENO:0080382", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0002598", + "UPHENO:0012274", + "UPHENO:0002433", + "CL:0000233", + "UBERON:0015061", + "UBERON:0003129", + "GO:0008150", + "UPHENO:0020888", + "UBERON:0010708", + "UPHENO:0026506", + "UBERON:0001434", + "HP:0009778", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0076810", + "CL:0000225", + "UBERON:0011582", + "GO:0006996", + "HP:0008678", + "UPHENO:0085263", + "UPHENO:0052178", + "NBO:0000001", + "UBERON:0034925", + "UPHENO:0088176", + "UPHENO:0086700", + "UPHENO:0086019", + "HP:0005927", + "UBERON:0003101", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", + "UBERON:0001440", + "UPHENO:0026183", + "HP:0009815", + "UPHENO:0080352", + "UBERON:0000075", + "CL:0000775", + "UPHENO:0088186", + "GO:0044848", + "UBERON:0001460", + "UBERON:0002513", + "UBERON:0011138", + "GO:0022414", + "NCBITaxon:2759", + "UBERON:0019221", + "UBERON:0002428", + "UPHENO:0054957", + "UBERON:0007272", + "HP:0009822", + "UPHENO:0076727", + "UPHENO:0080325", + "UPHENO:0002642", + "UBERON:0015203", + "UPHENO:0082761", + "CL:0000738", "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "HP:0011927", - "UPHENO:0052778", - "UPHENO:0020950", - "UPHENO:0021800", - "UPHENO:0085874", - "HP:0008056", - "HP:0000025", - "HP:0005922", - "UPHENO:0084766", - "HP:0009601", - "HP:0100542", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0085144", - "UPHENO:0088148", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0011121", - "UPHENO:0079826", - "HP:0009142", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0011276", + "HP:0009777", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "HP:0006496", + "UPHENO:0050008", + "UPHENO:0002905", + "UPHENO:0076723", + "UBERON:0002204", + "HP:0009380", + "UPHENO:0060026", + "UPHENO:0002378", + "UBERON:0000153", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0049952", + "HP:0040068", + "UPHENO:0002708", + "UBERON:0012141", + "GO:0034641", + "HP:0000929", + "GO:0050890", + "UBERON:0000073", + "HP:0010461", + "UBERON:0012139", + "UBERON:0000026", + "UBERON:0019231", + "UPHENO:0002844", + "UBERON:0010363", + "HP:0002977", "UPHENO:0084448", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", + "GO:0003008", + "UBERON:0010538", + "PATO:0000001", "UPHENO:0081435", - "UPHENO:0049588", - "UPHENO:0026023", - "HP:0012733", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0076724", - "UPHENO:0003055", - "HP:0009777", - "HP:0011297", - "UPHENO:0012274", - "UPHENO:0085118", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0021474", + "UBERON:5001463", + "UBERON:0004708", + "UPHENO:0085068", "HP:0001167", "HP:0040064", - "UPHENO:0080662", - "UPHENO:0003116", - "HP:0009115", - "UPHENO:0080079", + "HP:0012759", + "UBERON:0002097", + "UBERON:0003135", + "UBERON:0012140", + "UBERON:0005451", + "HP:0045060", + "UPHENO:0086633", "HP:0011844", - "UPHENO:0020584", - "HP:0002813", - "HP:0011991", - "UPHENO:0074589", - "HP:0011354", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0088338", - "HP:0000081", - "UPHENO:0085873", - "HP:0000234", - "HP:0001933", - "UPHENO:0035025", + "UBERON:5006048", + "UBERON:0003133", + "UBERON:0003103", + "UBERON:0005881", + "UBERON:0001062", 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+ "HP:0100547", + "HP:0032309", + "UPHENO:0049587", + "BFO:0000015", + "GO:0032504", + "HP:0000815", + "HP:0011927", + "GO:0050877", + "HP:0012638", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0015025", + "HP:0012758", + "HP:0002011", + "UBERON:0007811", + "UPHENO:0088338", + "UPHENO:0050101", "UPHENO:0075195", "HP:0009121", - "HP:0002977", - "HP:0006501", + "UBERON:0000033", + "UBERON:0001017", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0054970", + "UBERON:5102544", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0002090", + "GO:0048232", + "UPHENO:0075220", + "UBERON:0001893", + "UBERON:0001890", + "UPHENO:0080200", "UPHENO:0087907", - "UPHENO:0050625", - "HP:0010461", - "HP:0000929", - "HP:0000240", - "HP:0000078", - "HP:0012145", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0026980", - "UPHENO:0075997", - "UPHENO:0020888", - "UPHENO:0086002", + "HP:0006501", + "HP:0000234", + "UPHENO:0085873", + "NCBITaxon:33154", "HP:0000252", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080126", - "UPHENO:0076799", - "HP:0001626", - "UPHENO:0085356", - "UPHENO:0076810", - "HP:0030680", - "UPHENO:0086173", - "UPHENO:0076776", - "UPHENO:0002219", - "HP:0009823", - "HP:0000957", - "HP:0001873", - "HP:0001034", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0001876", - "HP:0002011", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0000489", + "UBERON:0010323", "UPHENO:0074575", - "HP:0012758", - "UPHENO:0009399", - "UPHENO:0025211", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0001574", - "UPHENO:0080377", - "UPHENO:0054970", - "UPHENO:0085875", - "HP:0011355", + "UPHENO:0046707", "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0082682", - "UPHENO:0003811", - "UPHENO:0080221", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "CL:0000408", + "GO:0007283", + "BFO:0000001", "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", + "UBERON:0000948", + "UBERON:0000915", + "UBERON:0005181", + "UPHENO:0080362", + "UBERON:0001009", + "NCBITaxon:6072", + "UPHENO:0076776", + "HP:0030680", + "HP:0001626", + "UPHENO:0005016", + "UBERON:0007100", + "GO:0050794", + "UPHENO:0085875", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0001574", + "UPHENO:0082682", + "UPHENO:0074589", + "UPHENO:0080221", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0009823", + "HP:0001034", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UBERON:0002417", + "UPHENO:0074572", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0004710", + "UPHENO:0088162", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", "HP:0008373", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", "UPHENO:0066972", - "UPHENO:0050113", + "HP:0000078", + "UPHENO:0082875", + "HP:0011355", "HP:0000104", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0087339", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", + "CL:0000232", + "UBERON:0004375", "HP:0011873", - "UPHENO:0086049", + "UBERON:0001474", + "CL:0000329", + "UPHENO:0087355", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "UBERON:0011584", + "UPHENO:0084987", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", "UPHENO:0085302", - "UPHENO:0049985", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0078729", - "UPHENO:0026128", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "CL:0000151", + "UPHENO:0081755", + "UBERON:0002471", + "HP:0008669", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0002386", + "UBERON:0015021", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0052231", + "HP:0000028", + "HP:0000811", + "UPHENO:0052778", + "GO:0003006", + "HP:0001000", + "UPHENO:0080382", + "GO:0000003", + "UBERON:0011216", + "UBERON:0004175", + "HP:0004322", + "UPHENO:0087973", + "HP:0000035", + "UPHENO:0078452", + "HP:0005918", + "HP:0012243", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UBERON:0004176", + "UPHENO:0076799", "HP:0000119", - "HP:0000152", - "UPHENO:0005016", + "UPHENO:0081511", + "UPHENO:0086201", + "UPHENO:0086198", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "UPHENO:0005597", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000473", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "UPHENO:0085356", + "GO:0019953", + "HP:0001871", + "UBERON:0000079", + "CL:0000586", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0053298", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "HP:0001249", + "UBERON:0001968", + "GO:0048609", + "HP:0003953", + "CL:0000413", + "CL:0000039", + "UPHENO:0079872", + "UPHENO:0009341", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0010741", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0086956", + "UBERON:0002104", + "HP:0006503", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0040070", + "UBERON:0000955", + "UBERON:0010703", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", "UPHENO:0005651", + "UPHENO:0076718", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0001423", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411", ], "has_phenotype_closure_label": [ + "U-shaped anatomical entity", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", + "shape anatomical entity", + "Horseshoe kidney", "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle phase", + "cell cycle process", + "decreased sensory perception of sound", + "abnormal sensory perception", "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", + "abnormal ear", + "ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "immaterial anatomical entity", + "Strabismus", + "body part movement", + "anatomical line", + "behavior process", + "behavior", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", + "abnormal eye movement", + "eye movement", + "response to stimulus", + "abnormal response to stimulus", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", "delayed biological_process", - "Growth delay", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Abnormality of body height", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", + "Hematological neoplasm", + "vasculature", + "abnormality of cardiovascular system physiology", "Bruising susceptibility", - "abnormal blood circulation", "Subcutaneous hemorrhage", + "Abnormal bleeding", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", + "Abnormality of blood circulation", + "vascular system", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "phalanx", + "digitopodium bone", + "skeleton of manual acropodium", + "acropodial skeleton", "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", + "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", + "manual digit bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal phalanx morphology", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", - "Neurodevelopmental delay", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cellular process", + "abnormal growth", + "decreased anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "decreased height of the anatomical entity", + "visual system", + "abnormal size of eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of the eye", + "orbital region", + "decreased size of the eyeball of camera-type eye", "Abnormality of the face", + "Microphthalmia", + "sense organ", + "eyeball of camera-type eye", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "simple eye", + "abnormal orbital region", "abnormal face morphology", - "U-shaped anatomical entity", "Abnormal eye morphology", - "Abnormality of the orbital region", + "camera-type eye", + "sensory system", "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "Abnormal upper limb bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", - "absent forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "Abnormality of the cell cycle", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "Absent radius", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", + "enucleated reticulocyte", + "abnormally decreased number of reticulocyte", + "Reticulocytopenia", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "axial skeleton plus cranial skeleton", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormality of anatomical entity physiology", + "skeleton of manus", + "abnormal manus morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", + "autopodial skeleton", + "paired limb/fin skeleton", + "abnormal digit morphology", + "absent anatomical entity", + "system", + "aplasia or hypoplasia of manual digit 1", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "agenesis of anatomical entity", + "multi-limb segment region", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "manual digit plus metapodial segment", + "digit", + "Hyperpigmentation of the skin", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "aplastic anatomical entity", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "genitourinary system", "decreased qualitatively reproductive process", "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", + "occurrent", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "entity", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "abnormal skeletal system morphology", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "appendicular skeletal system", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", + "decreased size of the anatomical entity in the pectoral complex", + "face", "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", + "skeleton", + "male gamete generation", + "Cognitive impairment", + "abnormal male reproductive system", + "paired limb/fin", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "abnormal limb morphology", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", "Abnormality of limb bone morphology", "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal appendicular skeleton morphology", + "cardiovascular system", "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "acropodium region", + "Intellectual disability", + "bone marrow", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "cell cycle", + "pectoral complex", + "trunk region element", + "Anemic pallor", + "cellular metabolic process", + "Abnormality of neutrophils", + "abnormal central nervous system morphology", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "Macule", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", + "sexual reproduction", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "Short thumb", + "Abnormality of the kidney", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormal cerebral morphology", + "abnormal blood circulation", + "arm bone", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal hematopoietic system", + "Renal agenesis", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", + "bone cell", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "thoracic cavity element", "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormality of ear physiology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", "abnormal arm", + "Atypical behavior", "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "abnormal multicellular organismal reproductive process", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "abnormal renal system", + "phenotype", + "Abnormal cell morphology", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", + "abnormally decreased number of hematopoietic cell", "phenotype by ontology source", - "Abnormality of the male genitalia", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", - "All", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", + "quality", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", "abnormal phenotype by ontology source", + "absent manual digit", "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Abnormal testis morphology", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", + "subdivision of trunk", + "anatomical system", + "material anatomical entity", + "Hypergonadotropic hypogonadism", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", "continuant", - "Azoospermia", - "Abnormality of brain morphology", - "Abnormal forearm morphology", + "abnormal neutrophil", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "abnormal testis morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "abnormal nervous system", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "skeletal element", + "zeugopod", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "regional part of nervous system", + "abdominal segment element", + "abnormal reproductive system morphology", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "biological_process", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "abnormal head morphology", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "abnormal gamete generation", + "leukocyte", "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology in the brain", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "abnormality of nervous system physiology", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "aplastic manual digit 1", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "limb endochondral element", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", + "abnormally decreased number of granulocyte", + "Abnormal cellular phenotype", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", "abnormal limb bone", "Abnormal nervous system morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", - "Abnormality of skin pigmentation", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "skeleton of manual digitopodium", + "primary circulatory organ", + "manual digit 1 plus metapodial segment", + "abdomen", + "viscus", + "abnormal hematopoietic cell morphology", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Absent forearm bone", + "Leukemia", "abnormal cell morphology", "abnormal nervous system morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", + "organism", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "Abnormal granulocyte count", + "eye", + "compound organ", + "limb long bone", + "zeugopodial skeleton", + "Abnormal granulocyte morphology", + "neutrophil", + "manual digit 1 phalanx", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "multicellular organismal reproductive process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "decreased length of manual digit", + "abnormal craniocervical region morphology", + "immaterial entity", "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "Abnormality of head or neck", "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of the head", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", + "abnormal reproductive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Decreased head circumference", + "abnormal telencephalon morphology", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "circulatory organ", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "abnormal long bone morphology", "abnormal heart morphology", - "delayed growth", + "aplasia or hypoplasia of radius bone", + "Abnormal reproductive system morphology", "abnormal cardiovascular system", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "Abnormality of skin morphology", "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", + "Neurodevelopmental delay", "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", + "Abnormality of bone marrow cell morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Localized skin lesion", - "abnormal platelet", + "Neutropenia", + "reproductive structure", + "abnormal integument", + "Growth delay", + "kidney", + "abnormal biological_process", "Cafe-au-lait spot", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", + "Abnormal forearm bone morphology", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "Pancytopenia", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", + "Abnormal heart morphology", "abnormality of reproductive system physiology", - "Hypogonadism", + "limb segment", + "absent sperm", + "Abnormality of reproductive system physiology", + "gamete", + "Puberty and gonadal disorders", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal bone marrow cell morphology", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", + "absent kidney", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", "Anemia", + "abnormal shape of continuant", + "trunk", "abnormal bone marrow cell", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Generalized abnormality of skin", + "oxygen accumulating cell", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "abnormal male reproductive system morphology", + "manual digit", + "abnormal multicellular organismal reproductive process", + "abnormal granulocyte morphology", + "Azoospermia", + "Abnormal testis morphology", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "absent gamete", + "organism substance", + "interphase", + "semen", + "Abnormality of male external genitalia", + "anatomical entity", + "decreased qualitatively biological_process", + "platelet", + "absent sperm in the independent continuant", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "developmental process involved in reproduction", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "germ cell", + "external male genitalia", + "testis", + "Abnormal external genitalia", + "abnormal gamete", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "male organism", + "male germ cell", + "abnormal testis morphology", + "forelimb zeugopod", + "internal genitalia", "abnormal internal genitalia", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "sensory perception", + "abnormal developmental process", + "haploid cell", + "sperm", + "Absent radius", + "abnormal radius bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "aplastic forelimb zeugopod bone", + "absent forelimb zeugopod bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "eukaryotic cell", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb zeugopod skeleton", + "abnormal size of skull", + "forelimb long bone", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "skeleton of digitopodium", + "Short digit", + "Short finger", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "reticulocyte", ], }, { @@ -3293,6 +5300,7 @@ def autocomplete_response(): "HP:0000582", "HP:0010469", "HP:0000377", + "HP:0002863", "HP:0002575", "HP:0000483", "HP:0000238", @@ -3313,14 +5321,13 @@ def autocomplete_response(): "HP:0002650", "HP:0000252", "HP:0001882", - "HP:0002863", + "HP:0001510", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", @@ -3401,6 +5408,7 @@ def autocomplete_response(): "Upslanted palpebral fissure", "Absent testis", "Abnormal pinna morphology", + "Myelodysplasia", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", @@ -3421,14 +5429,13 @@ def autocomplete_response(): "Scoliosis", "Microcephaly", "Leukopenia", - "Myelodysplasia", + "Growth delay", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", @@ -3507,3470 +5514,5780 @@ def autocomplete_response(): ], "has_phenotype_count": 106, "has_phenotype_closure": [ - "HP:0001053", - "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0042775", - "UPHENO:0077885", - "UPHENO:0086173", + "HP:0001010", + "UPHENO:0085344", + "CL:0000233", + "CL:0000457", + "UPHENO:0085189", "UPHENO:0086049", - "UPHENO:0085070", + "CL:0000458", + "HP:0001873", "UPHENO:0084987", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0001939", + "UPHENO:0086173", + "HP:0011875", + "UPHENO:0085070", "HP:0003220", + "GO:0008152", + "HP:0001939", + "HP:0000002", + "UPHENO:0075159", "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085118", - "HP:0005522", - "HP:0020047", + "CL:0000329", + "UPHENO:0088170", + "UPHENO:0084928", + "CL:0000232", + "GO:0048872", + "HP:0001877", + "HP:0010972", "UPHENO:0088162", + "GO:0030218", "HP:0025461", - "HP:0001877", - "UPHENO:0085068", - "UPHENO:0087510", + "CL:0000764", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "GO:0042592", + "GO:0002376", + "GO:0009987", + "HP:0020047", + "UBERON:0015001", + "HP:0002818", + "UPHENO:0080187", + "UPHENO:0075198", "HP:0012745", - "UPHENO:0046753", - "HP:0010978", - "HP:0032101", - "UPHENO:0053580", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UBERON:0036295", + "UBERON:0006555", "UPHENO:0002806", "HP:0025633", + "UBERON:0000056", + "HP:0000083", + "UPHENO:0002442", "HP:0012211", - "UPHENO:0086128", "UPHENO:0002411", - "HP:0008373", + "UPHENO:0086132", + "HP:0000135", "HP:5201015", - "HP:0000202", - "HP:0000175", - "UPHENO:0033635", + "UPHENO:0081423", "UPHENO:0034110", - "HP:0000218", - "UPHENO:0001208", + "UPHENO:0063513", "HP:0000268", - "UPHENO:0075148", - "HP:0000069", - "UPHENO:0002442", - "UPHENO:0087307", + "UPHENO:0001208", + "UBERON:0013766", + "UBERON:1000021", + "UPHENO:0072402", "UPHENO:0087928", + "UBERON:0001084", "UPHENO:0087058", - "HP:0000286", + "HP:0000324", "UPHENO:0084734", - "UPHENO:0084729", - "UPHENO:0041151", + "HP:0001999", + "UPHENO:0076704", + "HP:0001263", + "UPHENO:0005982", "UPHENO:0041083", - "UPHENO:0066972", + "UPHENO:0041084", + "UPHENO:0069249", + "UPHENO:0081141", + "UBERON:0004768", "UPHENO:0083646", - "HP:0034261", - "HP:0002692", - "HP:0009118", - "HP:0011821", + "UPHENO:0081314", + "CL:0000081", + "UBERON:0012360", + "UBERON:0001708", + "UBERON:0003278", + "UBERON:0011156", + "UBERON:0001684", + "HP:0000347", + "HP:0009116", + "HP:0004322", "HP:0030791", - "HP:0009122", + "HP:0011873", "UPHENO:0081788", + "UPHENO:0081786", + "HP:0000277", "UPHENO:0088116", - "UPHENO:0081141", - "UPHENO:0050625", - "HP:0000365", - "UPHENO:0052970", - "HP:0000028", - "UPHENO:0052231", + "UPHENO:0080087", + "UBERON:0001710", + "UPHENO:0084457", + "HP:0000286", + "HP:0009118", + "HP:0009122", + "GO:0050954", "UPHENO:0005518", + "UPHENO:0052970", + "HP:0000365", "HP:0000486", "HP:0000549", - "HP:0000504", + "GO:0034101", + "UPHENO:0050622", "UPHENO:0050236", + "GO:0050953", + "UPHENO:0052164", + "UPHENO:0085881", "HP:0000520", + "HP:0000568", "HP:0100887", "UPHENO:0075219", - "HP:0000496", + "HP:0000359", + "HP:0011821", + "HP:0012547", + "HP:0031704", + "UPHENO:0003044", "UPHENO:0079837", - "HP:0001751", - "UPHENO:0078736", - "HP:0040194", + "UPHENO:0066972", + "UPHENO:0080581", + "UPHENO:0002240", "UPHENO:0080602", "HP:0007670", - "HP:0011389", - "UPHENO:0002240", - "HP:0012547", - "UPHENO:0005170", - "UPHENO:0041395", + "HP:0000496", + "UPHENO:0079828", + "HP:0002719", + "UPHENO:0076766", + "UPHENO:0003053", + "UBERON:0003975", "HP:0000008", - "UPHENO:0041664", + "UBERON:0000993", + "UBERON:0013515", + "UPHENO:0005170", "HP:0000130", - "HP:0000813", - "HP:0006501", "UPHENO:0041033", - "UPHENO:0076748", - "HP:0001199", + "HP:0010460", + "UBERON:0003100", + "UBERON:0015025", + "HP:0001172", + "UBERON:0015024", + "UBERON:5102389", + "GO:0002262", + "UBERON:0003620", + "UBERON:0012358", + "UBERON:0006048", + "UBERON:5006048", "UPHENO:0076724", - "HP:0009602", - "UPHENO:0079833", - "UPHENO:0055092", - "HP:0100022", + "UPHENO:0021800", "UPHENO:0083263", - "UPHENO:0049586", + "UPHENO:0050620", + "GO:0060004", + "UPHENO:0050613", + "NBO:0000389", + "UBERON:0004742", + "NBO:0000388", + "NBO:0000001", + "NBO:0000403", + "HP:0100022", + "HP:0001347", + "UPHENO:0050606", "UPHENO:0049622", - "UPHENO:0087806", + "GO:0007610", + "UPHENO:0080585", + "GO:0050905", + "NBO:0000338", + "GO:0050896", "HP:0000708", - "HP:0001347", - "UPHENO:0050613", - "UPHENO:0077877", - "UPHENO:0050034", - "UPHENO:0005642", + "UPHENO:0050079", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0080393", + "HP:0001537", + "UBERON:0007118", + "HP:0004298", "UPHENO:0076794", + "HP:0001551", + "HP:0003549", + "UBERON:0003697", + "HP:0004299", + "UPHENO:0002712", + "UBERON:0000474", "HP:0010866", - "HP:0100790", "UPHENO:0086122", - "HP:0004298", - "UPHENO:0053644", - "HP:0001537", - "HP:0003549", - "HP:0002719", - "UPHENO:0075684", - "UPHENO:0033616", - "HP:0005120", - "UPHENO:0019888", - "UPHENO:0080187", + "UPHENO:0069254", + "UBERON:0002085", + "UPHENO:0019890", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0086857", "HP:0031654", + "HP:0000218", + "UBERON:0002146", + "UPHENO:0086863", + "HP:0001707", "HP:0002623", - "HP:0001714", - "UPHENO:0000996", + "UPHENO:0086854", + "GO:0007600", + "HP:0001671", "UPHENO:0084482", + "UBERON:0002094", + "UPHENO:0084489", + "HP:0001641", "UPHENO:0084715", - "UPHENO:0033604", - "HP:0001629", - "HP:0001707", - "UPHENO:0042834", - "UPHENO:0087022", + "UPHENO:0019886", + "UPHENO:0086864", + "HP:0011563", + "UBERON:0010688", + "UPHENO:0086855", + "HP:0011545", + "HP:0001714", + "UBERON:0003037", + "HP:0001636", + "HP:0011025", + "UPHENO:0042775", + "UBERON:0002099", + "UBERON:0005983", "HP:0001637", - "UPHENO:0020809", - "HP:0001639", - "UPHENO:0021800", - "HP:0001638", + "UPHENO:0024906", + "UPHENO:0076781", + "UBERON:0018260", "UPHENO:0077800", + "UBERON:0000383", + "HP:0001638", + "UBERON:0005985", + "UPHENO:0087018", + "UBERON:0018674", + "UBERON:0006876", + "UBERON:0002201", + "UBERON:0003498", + "UBERON:0011695", + "UBERON:0003513", "HP:0001643", - "UPHENO:0087309", - "HP:0012130", - "UPHENO:0033603", - "HP:0011603", + "UBERON:0004716", "UPHENO:0015290", - "UPHENO:0087018", + "UPHENO:0087309", + "UBERON:0003834", + "UBERON:0007100", + "UBERON:0004151", + "UPHENO:0063527", + "UBERON:0004145", + "UBERON:0000946", + "HP:0001646", + "HP:0001713", + "UBERON:0015228", + "UBERON:0005623", + "UBERON:0005337", "UPHENO:0015319", - "HP:0001654", - "UPHENO:0015327", - "UPHENO:0076810", + "UPHENO:0076743", + "HP:0000069", "UPHENO:0087070", - "HP:0000347", - "UPHENO:0015317", - "UPHENO:0086858", + "UBERON:0002084", + "UBERON:0005956", + "HP:0001627", + "UBERON:0015410", "UPHENO:0087612", - "HP:0030962", + "UPHENO:0015282", + "UBERON:0035553", + "UPHENO:0015327", + "HP:0002692", + "UBERON:0003519", "UPHENO:0076809", - "HP:0001679", - "UPHENO:0080393", + "UBERON:0010191", + "HP:0001631", "UPHENO:0041565", - "UPHENO:0041203", - "HP:0001763", - "UPHENO:0082356", - "HP:0011994", + "HP:0001679", "UPHENO:0082454", "UPHENO:0041369", - "UPHENO:0086863", - "UPHENO:0078375", - "HP:0001770", - "HP:0000340", - "UPHENO:0087531", - "HP:0430000", - "UPHENO:0079828", - "UPHENO:0087530", - "HP:0011017", - "UPHENO:0087214", - "UPHENO:0084465", - "UPHENO:0005994", - "UPHENO:0076765", - "HP:0002683", - "UPHENO:0085876", - "HP:0011218", + "UPHENO:0078347", + "UPHENO:0078246", + "UBERON:0000956", + "UPHENO:0041041", "UPHENO:0082905", - "UPHENO:0019477", - "HP:0001549", - "UPHENO:0086612", - "UPHENO:0021045", - "UPHENO:0088183", - "UPHENO:0084771", - "UPHENO:0002941", - "HP:0009116", - "UPHENO:0086978", - "UPHENO:0087933", - "UPHENO:0087121", - "UPHENO:0087602", - "HP:0012331", - "HP:0010438", - "UPHENO:0020258", - "HP:0002251", - "HP:0410015", - "HP:0002270", - "UPHENO:0081423", - "HP:0008438", - "HP:0003312", - "HP:0000568", - "UPHENO:0088123", - "UPHENO:0087858", - "UPHENO:0081436", - "HP:0003468", - "UPHENO:0076695", - "UPHENO:0076743", - "HP:0002143", - "UPHENO:0075655", - "UPHENO:0087363", - "UPHENO:0002992", - "UPHENO:0087558", - "HP:0045005", - "UPHENO:0020967", - "UPHENO:0052164", - "UPHENO:0081584", - "HP:0002644", - "UPHENO:0086091", - "UPHENO:0079871", - "UPHENO:0087980", - "UPHENO:0087892", "HP:0000290", - "UPHENO:0086088", - "UPHENO:0002700", - "HP:0001367", - "UPHENO:0052675", - "UPHENO:0075159", - "UPHENO:0076767", - "UPHENO:0075945", - "UPHENO:0012541", - "UPHENO:0085881", - "UPHENO:0069293", - "UPHENO:0080165", - "UPHENO:0081091", - "UPHENO:0081344", - "UPHENO:0081790", - "HP:0006503", - "UPHENO:0088170", - "UPHENO:0081792", - "HP:0009821", - "UPHENO:0068971", - "HP:0001384", - "HP:0009826", - "UPHENO:0012274", - "UPHENO:0086150", - "UPHENO:0084829", - "UPHENO:0015324", - "UPHENO:0086143", - "HP:0004097", - "UPHENO:0050079", - "UPHENO:0033559", - "UPHENO:0080369", - "HP:0000525", - "UPHENO:0086817", + "UPHENO:0076732", + "UBERON:0007914", + "UPHENO:0055092", + "UPHENO:0005994", + "UBERON:0003528", + "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000203", + "HP:0002683", + "UPHENO:0086595", + "HP:0002538", + "UBERON:0008200", + "UBERON:0010364", + "UBERON:0004339", + "UBERON:0011158", + "UBERON:0004756", + "UPHENO:0084465", + "UBERON:0016529", + "HP:0000639", + "UBERON:0003128", + "UBERON:0002428", + "UPHENO:0063595", + "UPHENO:0003048", + "HP:0005918", + "UBERON:0034944", + "UPHENO:0063621", + "HP:0010978", + "UPHENO:0086100", + "HP:0000508", + "UBERON:0005389", + "UBERON:0002082", + "UPHENO:0084815", + "UPHENO:0041591", + "HP:0003026", + "UPHENO:0001072", + "UPHENO:0088132", + "UPHENO:0041203", + "HP:0004325", + "HP:0040194", + "UPHENO:0031839", + "HP:0000238", + "HP:0000366", + "UPHENO:0082761", + "CL:0000738", + "UBERON:0000160", + "HP:0004323", + "UPHENO:0076780", + "UPHENO:0077854", + "HP:0001507", + "UBERON:0010543", + "UPHENO:0086797", + "UBERON:0035554", + "UPHENO:0041410", + "UBERON:0001043", + "UPHENO:0086614", + "UPHENO:0002839", + "HP:0011277", + "UPHENO:0063599", + "HP:0002242", + "UBERON:0001530", + "HP:0000483", + "HP:0000553", + "HP:0008062", + "UPHENO:0081313", + "UPHENO:0079826", + "UPHENO:0072814", + "UBERON:0011892", + "UBERON:0004111", + "UPHENO:0080377", + "UBERON:5102544", + "HP:0002007", "UPHENO:0021670", - "UPHENO:0079876", - "UPHENO:0086680", - "HP:0002119", - "UPHENO:0086956", - "UPHENO:0076727", - "HP:0011875", - "UPHENO:0063527", - "UPHENO:0086045", - "UPHENO:0086633", - "UPHENO:0087816", - "UPHENO:0002803", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0087509", - "HP:0011314", - "UPHENO:0086699", - "HP:0000924", - "UPHENO:0002830", + "UBERON:0035133", + "NCBITaxon:6072", + "UPHENO:0076776", + "UPHENO:0088050", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0001760", + "UPHENO:0087806", + "UPHENO:0002828", + "GO:0005623", + "UBERON:0006311", + "UPHENO:0054261", + "UPHENO:0054299", + "NCBITaxon:33154", + "UBERON:0003607", + "UPHENO:0026028", + "UPHENO:0082356", + "UBERON:0001766", + "HP:0000453", + "GO:0035148", + "UBERON:0004572", + "UBERON:0004708", + "UBERON:0000991", + "HP:0002817", + "UPHENO:0087501", + "HP:0002973", + "HP:0000025", + "UPHENO:0087578", + "UBERON:0015003", + "UPHENO:0021561", + "UPHENO:0020868", + "UPHENO:0076718", + "HP:0040071", + "UPHENO:0077877", + "HP:0000340", + "UPHENO:0002751", + "UBERON:0000955", "HP:0040070", - "UPHENO:0056072", + "UPHENO:0011498", + "UBERON:0008962", + "UBERON:0004766", + "HP:0007700", + "UPHENO:0088185", + "UBERON:0010712", + "UBERON:0012475", + "UBERON:0004535", "UPHENO:0002880", - "UPHENO:0080362", - "UPHENO:0080201", - "UPHENO:0003053", - "HP:0001627", - "UPHENO:0049970", - "UPHENO:0086864", - "UPHENO:0076729", - "HP:0100026", - "HP:0030680", - "UPHENO:0084834", - "UPHENO:0087577", - "HP:0033353", - "UPHENO:0087814", - "HP:0002538", - "HP:0002977", - "HP:0100587", - "UPHENO:0002263", - "UPHENO:0019890", - "UPHENO:0014240", - "HP:0000356", - "UPHENO:0087548", - "UPHENO:0056333", - "UPHENO:0076736", - "HP:0000707", - "UPHENO:0086824", - "UPHENO:0087665", - "UPHENO:0005116", - "HP:0012639", - "BFO:0000002", - "UPHENO:0088049", - "HP:0012718", - "UPHENO:0077874", - "UPHENO:0002751", - "UPHENO:0081313", - "HP:0008062", - "UPHENO:0074575", - "UPHENO:0076805", - "UPHENO:0076798", - "UPHENO:0076702", - "UPHENO:0084763", - "UPHENO:0076779", - "UPHENO:0076707", - "UPHENO:0087232", - "UPHENO:0021038", - "UPHENO:0071334", - "HP:0010301", - "UPHENO:0031129", - "HP:0000032", - "HP:0004299", + "UBERON:0011584", + "UBERON:0004923", + "UBERON:0000026", + 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"UPHENO:0076704", - "HP:0004207", - "HP:0040019", - ], - "has_phenotype_closure_label": [ - "Hypopigmented skin patches", - "Hypopigmentation of the skin", - "decreased pigmentation in skin of body", - "decreased qualitatively pigmentation", - "decreased pigmentation in multicellular organism", - "abnormal blood cell", - "abnormal blood cell morphology", + "HP:0011446", + "HP:0030084", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0016491", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", + "UPHENO:0076736", + "UBERON:0019221", + "UBERON:5003625", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "HP:0200007", + "HP:0009821", + "UPHENO:0081790", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0012274", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UPHENO:0012541", + "UPHENO:0087974", + "UBERON:0004770", + "UBERON:0001271", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "UPHENO:0060026", + "HP:0001367", + "UPHENO:0002700", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0087892", + "UBERON:0010425", + "UBERON:0007823", + "UBERON:0001464", + "UPHENO:0087602", + "UBERON:0000982", + "UBERON:0005913", + "HP:0002644", + "UBERON:0003828", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0003463", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:5002389", + "UPHENO:0087558", + "UBERON:0000473", + "UPHENO:0020967", + "GO:0002009", + "HP:0045005", + "HP:0000271", + "UBERON:0005893", + "UBERON:0002544", + "UPHENO:0087585", + "UBERON:0000060", + "UPHENO:0076695", + "HP:0003468", + "UPHENO:0076810", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0081436", + "UPHENO:0087858", + "UBERON:0004375", + "GO:0009792", + "UBERON:5101463", + "GO:0007399", + "GO:0021915", + "UBERON:0005897", + "UBERON:0005174", + "GO:0048729", + "GO:0009888", + "UBERON:0001558", + "GO:0048731", + "UPHENO:0075148", + "UBERON:0004249", + "GO:0035295", + "UBERON:0004908", + "UBERON:0006598", + "UBERON:0002240", + "HP:0002143", + "HP:0000119", + "GO:0043009", + "GO:0014020", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "UPHENO:0084729", + "UBERON:0016880", + "GO:0001503", + "UBERON:0002412", + "UPHENO:0088123", + "HP:0007874", + "UPHENO:0002992", + "HP:0001710", + "UPHENO:0087363", + "HP:0000364", + "GO:0009790", + "UBERON:0002050", + "UBERON:0000011", + "UPHENO:0087121", + "HP:0002251", + "UPHENO:0002941", + "UBERON:0013768", + "UPHENO:0084771", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "HP:0012331", + "HP:0001000", + "UBERON:0012430", + "UPHENO:0021045", + "UPHENO:0020258", + "UBERON:0002005", + "HP:0410015", + "UBERON:0002410", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "UPHENO:0056072", + "HP:0001549", + "UPHENO:0019477", + "UBERON:0005401", + "UBERON:0011300", + "UPHENO:0075655", + "UBERON:0011164", + "UBERON:0003457", + "UPHENO:0087530", + ], + "has_phenotype_closure_label": [ + "decreased biological_process in skin of body", + "decreased qualitatively pigmentation in independent continuant", + "decreased biological_process in independent continuant", + "decreased biological_process in multicellular organism", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "anucleate cell", + "secretory cell", + "abnormal platelet", + "abnormally decreased number of myeloid cell", + "abnormally decreased number of platelet", + "abnormal blood cell", "Thrombocytopenia", "Abnormal platelet count", - "abnormal platelet morphology", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Abnormal cellular physiology", + "Abnormality of chromosome stability", + "obsolete cell", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", "Abnormality of body height", - "Abnormal cell morphology", - "Sideroblastic anemia", + "oxygen accumulating cell", + "erythrocyte differentiation", "abnormal myeloid cell morphology", + "Anemia of inadequate production", + "Sideroblastic anemia", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", "Abnormal myeloid cell morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte", + "myeloid cell", + "blood cell", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "cellular developmental process", "abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", + "myeloid cell differentiation", + "hemopoiesis", + "homeostatic process", + "immune system process", + "cellular process", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "Abnormal size of the palpebral fissures", "decreased length of palpebral fissure", + "abnormality of immune system physiology", "Abnormality of immune system physiology", - "Unusual infection", - "Recurrent urinary tract infections", + "Cryptorchidism", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised testis", "Abnormal ureter morphology", - "abnormal ureter", - "abnormality of renal system physiology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", - "Puberty and gonadal disorders", + "abnormal ureter morphology", + "Abnormality of the ureter", + "ureter", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", "abnormally decreased functionality of the gonad", - "Orofacial cleft", - "abnormality of anatomical entity height", + "Craniofacial cleft", + "Cleft palate", "High palate", "increased height of anatomical entity in independent continuant", - "abnormal size of head", + "increased height of the anatomical entity", "increased size of the head", - "Dolichocephaly", - "abnormal skin of head morphology", + "Increased head circumference", + "skin of face", + "upper eyelid", + "head or neck skin", + "Epicanthus", "abnormal skin of face morphology", - "abnormal forehead morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", + "skin of head", + "increased length of the epicanthal fold", + "zone of skin", + "abnormal asymmetry of anatomical entity", + "sloped anatomical entity", + "abnormal shape of forehead", + "abnormal mandible morphology", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "facial skeleton", + "mandible", + "facial bone", "decreased size of the mandible", - "anatomical entity hypoplasia in face", + "Hypoplastic facial bones", "facial bone hypoplasia", - "mandible hypoplasia", - "abnormally localised anatomical entity", - "Micrognathia", + "bone of lower jaw", "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "aplasia or hypoplasia of skull", - "Facial asymmetry", - "abnormal sensory perception of sound", + "Abnormal mandible morphology", + "anatomical entity hypoplasia in face", + "lower jaw region", + "bone element hypoplasia in face", + "mandible hypoplasia", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", + "Hearing abnormality", + "decreased qualitatively sensory perception of sound", + "sloped forehead", + "sensory perception of mechanical stimulus", + "abnormal sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "Strabismus", + "Abnormal conjugate eye movement", + "abnormal sensory perception", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", "abnormal size of eyeball of camera-type eye", - "abnormal vestibulo-ocular reflex", - "abnormal internal ear", + "Abnormality of globe size", + "abnormal physiologic nystagmus", + "cranial nerve related reflex", "abnormality of ear physiology", - "Cryptorchidism", - "Nystagmus", + "Abnormal vestibulo-ocular reflex", + "Abnormality of eye movement", + "abnormal eye movement", + "abnormal vestibulo-ocular reflex", + "eye movement", "Abnormal vestibular function", - "Abnormality of the uterus", - "abnormal uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "bicornuate anatomical entity", "abnormal female reproductive system", "shape uterus", - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", + "oviduct", + "abnormal internal female genitalia morphology", + "female organism", + "Abnormality of the female genitalia", + "internal female genitalia", + "abnormal uterus", + "Abnormality of the uterus", + "uterus", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manus bone", + "skeleton of manual acropodium", + "abnormal manual digit 1 morphology", + "abnormal visual perception", "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", + "Triphalangeal thumb", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1", + "abnormal anatomical entity morphology in the skeleton of manus", + "Bicornuate uterus", + "abnormal behavior", "Hyperreflexia", + "abnormal response to external stimulus", + "Abnormality of movement", + "body part movement", "increased qualitatively response to stimulus", - "increased reflex", - "abnormal musculoskeletal movement", - "abnormal behavior", - "decreased embryo development", + "reflex", + "multicellular organismal movement", + "abnormal voluntary musculoskeletal movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "Recurrent urinary tract infections", + "involuntary movement behavior", "abnormal embryo development", - "Intrauterine growth retardation", - "shape forehead", + "decreased embryo development", + "herniated anatomical entity", + "Abnormality of the abdominal wall", + "abnormal umbilicus morphology", + "umbilicus", + "connective tissue", + "abnormal incomplete closing of the abdominal wall", "herniated abdominal wall", + "Hernia of the abdominal wall", "Abnormal umbilicus morphology", "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Hernia", + "interatrial septum", "abnormal interatrial septum morphology", - "Tetralogy of Fallot", - "Overriding aorta", - "Ventricular hypertrophy", + "abnormal cardiac atrium morphology", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "hypertrophic heart right ventricle", + "interventricular septum", + "metabolic process", "Abnormal cardiac septum morphology", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", - "abnormal interventricular septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "abnormally increased volume of anatomical entity", "abnormal cardiac septum morphology", - "Right ventricular hypertrophy", - "abnormal heart right ventricle morphology", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased functionality of the myocardium", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "cardiac septum", + "abnormally increased volume of anatomical entity", + "hypertrophic cardiac ventricle", + "Abnormal ventricular septum morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "heart layer", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "abnormal myocardium morphology", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal coronary vessel morphology", "abnormal incomplete closing of the ductus arteriosus", - "abnormal eye movement", - "abnormal artery morphology in the independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "cardiac valve", + "internal ear", + "heart left ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "Abnormal heart valve morphology", "abnormal cardiac valve morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", "abnormal aortic valve morphology", - "abnormal outflow part of left ventricle morphology", + "heart", + "abnormal semi-lunar valve morphology", + "abnormal heart morphology", "abnormal anatomical entity morphology in the heart", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "bone of jaw", + "aortic system", "Abnormal aortic morphology", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "flat longitudinal arch of pes", - "decreased qualitatively sensory perception of mechanical stimulus", + "aorta", + "longitudinal arch of pes", "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "flat anatomical entity in independent continuant", "flat anatomical entity", - "abnormal cerebral cortex morphology", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "abnormal vault of skull", - "abnormally protruding anatomical entity", - "abnormal shape of frontal cortex", - "Abnormal calvaria morphology", - "Abnormal cerebral cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", - "Abnormal shape of the frontal region", - "abnormal size of heart right ventricle", - "Meckel diverticulum", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "abnormal ganglion morphology", - "abnormal incomplete closing of the arch of centrum of vertebra", - "Neural tube defect", - "abnormal shape of forehead", - "abnormal tube formation", - "abnormal vertebral column morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal vertebral morphology", - "Hernia", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal opening of the anatomical entity", - "Abnormality of femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal size of palpebral fissure", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormal femur morphology", - "Lower extremity joint dislocation", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "anatomical entity dislocation", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Joint dislocation", - "abnormal synovial joint morphology", - "Abnormal joint morphology", - "Sloping forehead", - "decreased size of the ulna", - "decreased length of anatomical entity in independent continuant", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "decreased length of forelimb zeugopod bone", + "flattened anatomical entity in independent continuant", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "neurocranium", + "abnormal head bone morphology", + "abnormal forehead", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "lower urinary tract", + "Abnormality of globe location", + "pelvic region of trunk", + "myeloid cell homeostasis", + "glans penis", + "abnormal posterior nasal aperture morphology", + "abnormal internal naris", + "material anatomical entity", + "cranial skeletal system", + "posterior nasal aperture", "decreased size of the anatomical entity in the pectoral complex", - "Hypoplasia of the ulna", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", + "Abnormal skull morphology", + "anus", + "abnormal nose", + "abnormal skull morphology", + "anus atresia", + "reproductive organ", + "Short long bone", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Cataract", + "subdivision of digestive tract", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Weight loss", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal anus", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "neural tube formation", + "abnormal common carotid artery plus branches morphology", + "Abnormal anus morphology", + "abnormal anatomical entity mass density", + "outflow tract", + "germ cell", + "arterial system", + "Decreased bone element mass density", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "anterior uvea", + "vestibulo-auditory system", "Aplasia/Hypoplasia affecting the uvea", - "Abnormal skeletal morphology", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "changed biological_process rate in independent continuant", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal iris morphology", - "abnormal penis", - "Microcephaly", + "transparent eye structure", + "system", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal right ventricle morphology", + "Clinodactyly", + "Eumetazoa", + "Eukaryota", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "forelimb long bone", + "abnormal size of skull", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "skeleton of limb", + "postcranial axial skeletal system", + "Clubbing of toes", + "drooping eyelid", + "Dolichocephaly", + "common carotid artery plus branches", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "root", + "bone element", + "Ptosis", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "limb skeleton subdivision", + "Abnormality of the choanae", + "Abnormal cell morphology", + "Abnormal palate morphology", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", "Abnormality of the musculoskeletal system", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal voluntary movement behavior", + "Microcephaly", "Abnormal forearm bone morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal respiratory system", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "abnormal embryo morphology", - "Abnormal venous morphology", - "abnormal blood vessel morphology", - "abnormal vascular system morphology", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "limb segment", "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormality of brain morphology", + "absent sperm", + "Atrial septal defect", + "drooping anatomical entity", + "Abnormal uvea morphology", "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "shape cornea", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormal small intestine morphology", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", + "abnormal forelimb zeugopod morphology", + "Abnormal morphology of ulna", + "skeletal element", + "zeugopod", + "Aplasia/Hypoplasia of the iris", + "mouth", + "paired limb/fin", "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "abnormal anatomical entity", - "abnormal artery morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal forearm morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "Abnormality of limbs", + "Abnormal calvaria morphology", + "Anal atresia", + "abnormally formed anterior chamber of eyeball", + "anatomical conduit", + "septum", "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "abnormal vein morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Decreased body weight", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", + "abnormal digestive system morphology", + "endochondral bone", + "subdivision of skeleton", + "Abnormal forebrain morphology", + "appendage girdle complex", + "subdivision of head", + "Abnormality of limbs", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "Abnormal long bone morphology", "absent sperm in the semen", - "Abnormal eye physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal internal genitalia", - "Abnormal tracheobronchial morphology", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Recurrent infections", - "asymmetrically curved cornea", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "Abnormal vascular morphology", + "vasculature", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "Abnormal venous morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "venous blood vessel", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "abnormal liver", + "embryonic morphogenesis", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "abnormal vasculature", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "olfactory system", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "cardiovascular system", + "blood vasculature", + "blood vessel", + "penis", + "Orofacial cleft", + "digestive system element", + "Abnormality of body weight", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "abnormal artery morphology in the independent continuant", + "abnormal cranium morphology", + "Abnormality iris morphology", + "abnormal penis morphology", + "organism", + "secondary palate", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Neurodevelopmental abnormality", + "cerebrospinal fluid", + "forelimb bone", + "Abnormal uvula morphology", + "abnormal cardiac ventricle morphology", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal central nervous system morphology", + "abnormal brain ventricle morphology", + "skeletal joint", + "decreased length of forelimb zeugopod bone", + "Abnormality of the nose", + "developmental process involved in reproduction", + "organ system subdivision", + "abnormal nervous system morphology", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "pedal digit digitopodial skeleton", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb zeugopod bone", + "Abnormal shape of the frontal region", + "central nervous system", "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "abnormal nervous system", + "abnormal lens of camera-type eye morphology", + "Hydrocephalus", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "ventricular system of central nervous system", "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "abnormal cell", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "abnormal response to stimulus", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "decreased biological_process", + "abnormal neocortex morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "sensory perception", + "abnormality of anatomical entity mass", + "Abnormality of corneal shape", + "segment of autopod", + "Abnormal anterior eye segment morphology", + "abnormal eyeball of camera-type eye", + "cerebral hemisphere", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "endocrine gland", + "nose", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "Abnormal ear physiology", + "ecto-epithelium", "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal digestive system", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormal visual perception", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "ocular surface region", + "abnormal internal genitalia", + "Finger clinodactyly", + "epithelial tube", + "curvature anatomical entity", + "vessel", + "lateral structure", + "pulmonary valve", + "cellular organisms", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "absent sperm in the independent continuant", + "pelvic region element", + "All", + "Abnormal bone structure", + "Abnormality of male external genitalia", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "olfactory organ", + "Abnormality of the gastrointestinal tract", + "abnormal number of anatomical enitites of type anatomical entity", "absent gamete", - "abnormal phenotype by ontology source", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal form of the vertebral bodies", - "entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", + "iris", + "naris", "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal spatial pattern of anatomical entity", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "abnormal cornea morphology", - "continuant", - "abnormal craniocervical region morphology", - "Slanting of the palpebral fissure", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormally increased number of anatomical entity in the independent continuant", + "male gamete generation", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "arm", + "abnormal bone of pelvic complex morphology", + "vertebra", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "gonad", + "abnormal ulna morphology", + "Decreased anatomical entity mass density", + "ganglion", + "sensory system", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "upper limb segment", + "biological_process", + "abnormal reproductive process", + "opaque lens of camera-type eye", + "abnormal shape of external ear", + "abnormal shape of continuant", + "camera-type eye", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "neural tube development", + "external genitalia", + "abnormal anatomical entity morphology in the brain", + "abnormal male reproductive system morphology", + "mesoderm-derived structure", + "autopod bone", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "intramembranous bone", + "pelvic complex", + "anatomical line between pupils", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "Abnormality of the head", + "abnormal blood cell morphology", + "abnormal cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "phenotype by ontology source", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "abnormal amniotic fluid", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "increased biological_process", + "transudate", + "Abnormal joint morphology", + "anterior region of body", "abnormal head", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", + "artery", + "jaw region", + "epithelium development", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "reproductive structure", + "tunica fibrosa of eyeball", + "abnormal limb bone morphology", + "anatomical system", + "upper digestive tract", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "testis", + "non-connected functional system", + "abnormal growth", + "abnormal craniocervical region morphology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "appendage girdle region", + "platelet", "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal reproductive system morphology", + "hip", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal orbital region", + "simple eye", "abnormal male reproductive organ morphology", - "decreased developmental process", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", + "occurrent", + "pedal digit phalanx endochondral element", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "abnormality of male reproductive system physiology", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal face morphology", - "increased height of the anatomical entity", - "abnormal upper urinary tract", - "Limb undergrowth", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Overriding aorta", + "trachea", + "Abnormality of the skeletal system", + "Deviation of finger", + "organ", + "pedal digit plus metapodial segment", + "reproduction", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal manual digit morphology in the manus", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal eyelid morphology", + "manus", + "exocrine system", + "Abnormality of the genitourinary system", + "absent germ cell", + "Abnormal heart valve physiology", + "changed biological_process rate", "Abnormality of the outer ear", "abnormal gamete", - "abnormality of camera-type eye physiology", - "abnormal gamete generation", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", + "quality", + "Slanting of the palpebral fissure", + "ectoderm-derived structure", + "valve", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "palpebral fissure", + "abnormal head morphology", "decreased spermatogenesis", - "abnormal kidney morphology", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "Hypertrophic cardiomyopathy", + "digestive tract", + "abnormal shape of frontal cortex", + "abnormal great vessel of heart morphology", + "frontal cortex", + "Displacement of the urethral meatus", + "nervous system", + "abnormal face", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "vault of skull", + "skeleton of pectoral complex", + "specifically dependent continuant", + "organism substance", + "female reproductive organ", + "ocular adnexa", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "subdivision of organism along main body axis", + "cranium", + "abnormal ileum morphology", + "neural tube closure", + "curved anatomical entity", + "internal male genitalia", + "digestive system", + "decreased length of long bone", + "anatomical entity", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "abnormal ocular adnexa", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "Hypogonadism", + "arm bone", + "urethral opening", + "abnormal spinal cord morphology", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "multicellular organismal reproductive process", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "forelimb endochondral element", + "abnormal duodenum morphology", + "outflow tract of ventricle", + "Abnormality of the skin", + "abnormal leukocyte morphology", + "clavate digit", + "shape eyelid", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "material entity", + "increased reflex", + "long bone", + "Abnormality of the orbital region", + "roof of mouth", + "Microphthalmia", "absent anatomical entity in the multicellular organism", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Abnormal cornea morphology", - "Clubbing of toes", - "abnormal spermatogenesis", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", + "abnormal anterior uvea morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "postcranial axial skeleton", + "Decreased body weight", + "autopodial extension", + "forehead", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", "Abnormal penis morphology", - "abnormal ocular adnexa", - "Non-obstructive azoospermia", - "Abnormal cardiac atrium morphology", "Intellectual disability", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormal shape of continuant", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", + "eyelid", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Absent testis", - "Abnormal male reproductive system physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "changed developmental process rate", - "abnormal genitourinary system", - "abnormal vasculature", - "Morphological abnormality of the gastrointestinal tract", + "abnormal anatomical entity morphology", + "hindlimb joint", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal camera-type eye morphology", + "Abnormal eyelid morphology", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "abnormal hematopoietic system", + "asymmetrically curved cornea", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "abnormal number of anatomical enitites of type sperm", + "external male genitalia", + "Abnormal external genitalia", + "Abnormality of the peripheral nervous system", + "trunk region element", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "organism subdivision", + "abnormality of camera-type eye physiology", + "endocrine system", + "immune system", + "Abnormality of the curvature of the cornea", + "abnormal gamete generation", + "leukocyte", + "Abnormal facial shape", + "tube morphogenesis", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "reproductive system", + "opaque anatomical entity", + "system process", + "male gamete", + "visual system", + "lower respiratory tract", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", + "Cognitive impairment", + "organ subunit", + "abnormal male reproductive system", + "abnormal mouth morphology", + "abnormal bone element mass density", + "main body axis", + "obsolete multicellular organism reproduction", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "upper jaw region", + "gamete", + "tube formation", + "Abnormality of reproductive system physiology", + "process", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "limb", + "heart right ventricle", + "lens of camera-type eye", + "increased size of the anatomical entity", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "abnormal external male genitalia", "abnormal tracheobronchial tree morphology", - "Anal atresia", - "abnormal small intestine", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Abnormality of the anus", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormal pulmonary valve physiology", + "internal naris", + "sperm", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal postcranial axial skeleton morphology", + "Opisthokonta", + "Abnormality of the ocular adnexa", + "Abnormality of digestive system morphology", + "ear", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "orbital region", + "Abnormal pinna morphology", + "Reduced bone mineral density", + "Myelodysplasia", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "physiologic nystagmus", + "hemolymphoid system", + "Nystagmus", + "esophagus", + "Lower extremity joint dislocation", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "abnormal artery morphology", + "respiratory tract", + "germ line cell", + "bone element hypoplasia in independent continuant", + "respiratory tube", + "glans", "abnormality of multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "opaque anatomical entity", + "subdivision of tube", "Abnormal lens morphology", - "drooping eyelid", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Abnormal axial skeleton morphology", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "abnormal internal naris", - "Choanal atresia", - "posterior nasal aperture atresia", - "Short long bone", - "anus atresia", - "abnormal palpebral fissure", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "Abnormality of the choanae", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", - "abnormal nerve", - "Abnormality of the lower urinary tract", - "Displacement of the urethral meatus", - "abnormal urethra", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "abnormal digestive system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "abnormal respiratory system", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal incomplete closing of the anatomical entity", + "venous system", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Abnormal morphology of the great vessels", + "pectoral complex", + "abnormality of male reproductive system physiology", + "craniocervical region", + "Abnormality of cardiovascular system morphology", + "abnormal developmental process", + "gland", + "Abnormal cornea morphology", + "abnormal secondary palate morphology", + "tube", + "thoracic segment of trunk", + "pes bone", + "viscus", + "vertebral element", + "respiratory airway", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "Abnormality of the respiratory system", + "girdle skeleton", + "Hip dislocation", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "renal system", + "abnormally fused anatomical entity and manual digit", "abnormal renal system", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "decreased pigmentation in independent continuant", + "Abnormality of the lower urinary tract", + "posterior nasal aperture atresia", "Hypospadias", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "abnormal shape of palpebral fissure", + "epicanthal fold", + "hindlimb long bone", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "abnormal urethra", + "Abnormal male urethral meatus morphology", + "excretory system", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "Abnormality of prenatal development or birth", + "male urethra", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "head bone", + "shape digit", + "Clubbing", + "cranial neuron projection bundle", + "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", + "Short stature", + "Abnormality of the vertebral column", "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", + "vertebral column", "Scoliosis", - "Abnormality of the vertebral column", - "Macule", + "Abnormal curvature of the vertebral column", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Deviation of the 5th finger", + "regional part of brain", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", + "abnormal neurocranium morphology", "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", + "Hematological neoplasm", + "abnormal immune system morphology", + "lobe of cerebral hemisphere", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", "Leukopenia", - "Abnormal forebrain morphology", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal hematopoietic system", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal ocular adnexa morphology", "abnormally decreased number of hematopoietic cell", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", + "abnormal uvea morphology", "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", "abnormal immune system", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally decreased number of cell in the independent continuant", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Myelodysplasia", - "Frontal bossing", + "pedal digitopodium region", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "Facial asymmetry", + "Abnormal leukocyte count", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "abnormally decreased number of leukocyte in the blood", + "semi-lunar valve", + "hematopoietic cell", + "motile cell", + "abnormal leg", + "nucleate cell", + "haemolymphatic fluid", + "systemic artery", + "delayed biological_process", + "decreased pigmentation in independent continuant", + "tissue development", + "delayed growth", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", "abnormal size of brain ventricle", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "abnormal liver", + "forelimb", + "skeleton of pelvic complex", + "behavior", + "abdomen element", "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", + "liver", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", "abnormal anatomical entity topology in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", + "non-material anatomical boundary", "Hypertelorism", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", + "abnormal anatomical entity length", "increased anatomical entity length in independent continuant", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Renal insufficiency", + "late embryo", + "Cardiomyopathy", + "flat bone", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "abnormal anatomical entity, curved", + "anatomical line", + "immaterial anatomical entity", + "heart plus pericardium", + "gray matter of forebrain", "Oligohydramnios", - "abnormal soft palate morphology", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal biological_process", - "Growth delay", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "Duodenal stenosis", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "abnormal intestine morphology", + "amniotic fluid", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "Abnormality of the autonomic nervous system", + "Absent testis", + "embryo", + "skeleton of lower jaw", + "abnormal small intestine", + "cavitated compound organ", "Abnormal duodenum morphology", + "Azoospermia", + "Abnormal small intestine morphology", + "Ventricular septal defect", + "small intestine", + "duodenum", + "abnormal phalanx morphology", + "pes", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "pelvic appendage", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "digitopodium region", + "acropodium region", + "tube development", + "abnormal digit", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "skeleton of pedal digitopodium", + "leg", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "skeleton of pes", + "abnormal hindlimb morphology", + "Abnormal digit morphology", + "digit", "Abnormality of the lower limb", - "abnormal digit morphology", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "Abnormal cellular physiology", "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "abnormal digit", - "abnormal pedal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "abnormal oral cavity morphology", - "Abnormal soft palate morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", + "shape forehead", + "posterior region of body", + "phalanx endochondral element", + "abnormal phalanx of pes morphology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "Abnormal midface morphology", + "abnormal digit morphology", + "skeleton of digitopodium", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "individual digit of digitopodial skeleton", + "Choanal atresia", + "acropodial skeleton", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "phalanx", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", "abnormal midface morphology", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "Neurodevelopmental delay", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "abnormal oral cavity morphology", + "abnormal soft palate morphology", + "anatomical projection", + "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical cavity", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "Abnormal aortic valve morphology", + "midface", + "Abnormal soft palate morphology", + "Abnormal oral cavity morphology", + "Anemia", + "morphological feature", + "arterial blood vessel", + "anatomical structure development", + "Abnormality of skin morphology", + "abnormal cornea, curved", + "pigmentation", + "semen", + "abnormality of anatomical entity physiology", + "integumental system", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "integument", + "tracheobronchial tree", + "cerebral cortex", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "Abnormal ileum morphology", + "eyeball of camera-type eye", + "abnormal upper urinary tract", "abnormal skin of body", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal cardiac valve morphology in the heart", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "ulna hypoplasia", - "abnormal skin of body morphology", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal integument", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", + "ulna hypoplasia", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal nerve", + "limb joint", + "Hyperpigmentation of the skin", + "increased biological_process in skin of body", + "increased pigmentation in independent continuant", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "independent continuant", + "abnormal pigmentation", + "abnormality of cranial nerve physiology", + "paralysed cranial nerve", + "vein", + "multi cell part structure", + "cranial nerve", + "Frontal bossing", + "nerve", "Abnormal cranial nerve physiology", "Cranial nerve paralysis", - "paralysed cranial nerve", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", + "segment of manus", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "abnormal manus morphology", "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the extremities", + "circulatory system", + "Spina bifida", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "decreased pigmentation in skin of body", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "abnormal behavior process", "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", + "abnormal manus", + "skeleton of manus", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "anatomical space", "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "appendage", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", + "Clinodactyly of the 5th finger", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "Abnormality of bone mineral density", + "biogenic amine secreting cell", + "ossification", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the skeletal system", - "Deviation of finger", - "Abnormality of the eye", - "Finger clinodactyly", + "deviation of manual digit", + "manual digit 5", + "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "curved anatomical entity", - "decreased length of long bone", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "digit 1 or 5", + "trunk", + "manual digit 5 plus metapodial segment", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "deviation of digit towards the middle", + "Short forearm", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "forelimb zeugopod bone hypoplasia", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "Upper limb undergrowth", + "aplasia or hypoplasia of telencephalon", "decreased size of the anatomical entity in the independent continuant", + "abnormal incomplete closing of the interatrial septum", + "Decreased multicellular organism mass", + "intestine", "Aplasia/Hypoplasia of the ulna", - "bicornuate anatomical entity", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", + "articular system", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "Spinal dysraphism", + "articulation", + "increased size of the brain ventricle", + "zone of organ", + "abnormal voluntary movement behavior", + "tissue", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "skeletal joint dislocation", + "abnormal synovial joint morphology", + "Ventriculomegaly", + "multicellular organism development", + "trunk bone", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "peripheral nervous system", + "abnormal hip joint morphology", + "Micrognathia", + "anatomical entity dislocation", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "Abnormal hip bone morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "stylopod", + "upper leg bone", + "abnormally localised anatomical entity", + "Abnormal heart morphology", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "abnormal limb bone", + "anatomical structure morphogenesis", + "dentary", + "femur endochondral element", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "autopodial skeleton", + "epithelium", + "presumptive structure", + "abnormal neural tube morphology", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "nervous system development", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "Aplasia/Hypoplasia of the cerebrum", + "tube closure", + "neural tube", + "developing anatomical structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "embryonic structure", + "abnormal palpebral fissure", + "abnormal tube formation", + "Neural tube defect", + "anatomical structure formation involved in morphogenesis", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "embryo development", + "Abnormal neural tube morphology", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal multicellular organismal reproductive process", + "system development", + "appendicular skeleton", + "spinal cord", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "ganglion of peripheral nervous system", + "abnormal autonomic nervous system morphology", + "conceptus", + "abnormal vertebra morphology", + "embryonic epithelial tube formation", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Vertebral arch anomaly", + "dorsum", + "abnormal bony vertebral centrum morphology", + "brain ventricle", + "future nervous system", + "abnormal olfactory system morphology", + "bony vertebral centrum", + "enteric ganglion", + "Unusual infection", + "abnormal enteric ganglion morphology", + "neurocranium bone", + "Abnormal autonomic nervous system morphology", + "parasympathetic nervous system", + "autonomic nervous system", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "Abnormality of enteric ganglion morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "embryonic tissue", + "ileum", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal respiratory system morphology", + "abnormally protruding anatomical entity", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal vault of skull", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + "membrane bone", + "cranial bone", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "female reproductive system", + "dermal skeleton", ], }, { - "id": "MONDO:0013248", + "id": "MONDO:0013499", "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.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "name": "Fanconi anemia complementation group P", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], "provided_by": "phenio_nodes", "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", + "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:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", "HP:0002984", - "HP:0000126", - "HP:0000028", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", "HP:0004322", - "HP:0001245", - "HP:0003774", - "HP:0025023", + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045", ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", ], - "has_phenotype_count": 15, + "has_phenotype_count": 20, "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", - "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", - "HP:0001510", + "HP:0000086", + "CL:0000039", + "CL:0000413", + "UBERON:0001968", + "HP:0000078", + "HP:0000035", + "UPHENO:0005016", + "UBERON:0000463", + "UPHENO:0078729", + "HP:0000032", + "CL:0000586", + "GO:0019953", + "GO:0007283", + "GO:0007276", + "UPHENO:0085194", + "UPHENO:0050101", + "UBERON:0004054", + "UBERON:0000473", + "UPHENO:0053580", + "UPHENO:0005597", + "UPHENO:0087547", + 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"UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "NCBITaxon:6072", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0081788", + "HP:0002664", + "HP:0011793", + "HP:0001507", + "GO:0010468", "UPHENO:0000541", + "UBERON:0001456", + "HP:0005105", + "UPHENO:0049874", + "UPHENO:0000543", + "UPHENO:0086023", + "HP:0001510", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UPHENO:0046753", + "UBERON:0003103", + "HP:0000315", + "UPHENO:0085189", + "UPHENO:0034770", + "HP:0032039", + "UPHENO:0076761", + "HP:0012745", + "HP:0000492", + "UPHENO:0075220", + "UPHENO:0086595", + "HP:0030669", + "UBERON:0001819", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0080200", + "HP:0200007", + "HP:0000125", + "UPHENO:0002910", + "HP:0045025", + "UPHENO:0041821", + "UPHENO:0020041", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", + "HP:0006503", + "UBERON:0002104", + "UBERON:0003462", + "HP:0010461", + "UPHENO:0054567", + "UBERON:0034923", + "UBERON:0034921", + "UPHENO:0077426", + "HP:0020047", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0085070", + "GO:0065007", + "UPHENO:0087355", + "HP:0012145", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0085984", + "HP:0002715", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "CL:0000458", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0063722", + "HP:0001881", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "GO:0032502", + "UPHENO:0002832", + "HP:0032251", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "CL:0000000", + "UPHENO:0002948", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000233", + "UBERON:0013522", + "UBERON:0001710", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", + "UPHENO:0076779", + "CL:0000255", + "UPHENO:0080099", + "CL:0000219", + "CL:0002242", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009122", + "HP:0011821", + "HP:0009118", + "UBERON:0010313", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0011595", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0003457", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "UPHENO:0081786", + "UBERON:0011158", + "UBERON:0003135", + "HP:0009116", + "HP:0000347", + "HP:0025031", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0002896", + "GO:0043933", + "UBERON:0012360", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0076800", + "HP:0034261", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0076692", + "UPHENO:0069249", + "UPHENO:0076803", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "GO:0050877", + "HP:0011927", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076805", + "UPHENO:0088168", + "UBERON:0002268", + "UBERON:0000466", + "UPHENO:0084715", + "UBERON:0002470", + "UBERON:0007827", + "UPHENO:0087430", + "CL:0000300", + "HP:0012130", + "UBERON:0011143", + "UBERON:0005177", + "UPHENO:0041629", + "UPHENO:0087427", + "UBERON:0000916", + "HP:0100542", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0082129", + "UBERON:0005173", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "HP:0012210", + "UBERON:8450002", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0002907", + "HP:0010935", + "UBERON:0002398", + "UBERON:0009569", + "HP:0000085", + "UBERON:0010323", + "UBERON:0000489", + "UPHENO:0041226", + "UBERON:0001008", + "UPHENO:0050113", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "UPHENO:0050116", + "GO:0008152", + "HP:0000079", + "GO:0048523", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", - "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", - "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", + "Pelvic kidney", + "Ectopic kidney", + "sperm", + "haploid cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormality of reproductive system physiology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", + "decreased spermatogenesis", + "abnormal testis morphology", + "male germ cell", + "male gamete", + "reproductive system", + "abnormality of reproductive system physiology", + "abnormal gamete", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "external male genitalia", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "abnormally localised anatomical entity in independent continuant", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "semen", + "reproductive structure", + "organism substance", + "absent gamete", + "male gamete generation", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "gonad", + "external genitalia", + "reproductive process", + "decreased qualitatively developmental process", + "Abnormal testis morphology", + "Azoospermia", + "abnormal male reproductive system morphology", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "system process", + "ear", + "abnormal developmental process", + "sensory perception", + "abnormality of anatomical entity physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "multicellular organismal process", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", + "decreased height of the multicellular organism", + "Chromosomal breakage induced by crosslinking agents", "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", "abnormal cellular component organization", - "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", + "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "Abnormality of head or neck", + "Abnormal cerebral morphology", + "arm bone", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "root", + "appendage", + "organism", + "Neoplasm of the skin", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "regional part of nervous system", + "Abnormality of brain morphology", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "multi-tissue structure", + "tissue", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal mouth", + "Abnormality of skin pigmentation", + "skeleton of limb", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "decreased length of forelimb zeugopod bone", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Cafe-au-lait spot", + "primary subdivision of skull", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "biological_process", + "abnormal integument", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "pigmentation", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "skeleton of manus", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "gamete generation", + "protein-containing material entity", + "agenesis of anatomical entity", + "digit", + "Hyperpigmentation of the skin", + "Abnormal digit morphology", + "cellular process", "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", + "abnormal autopod region morphology", + "Abnormal myeloid cell morphology", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Neoplasm", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "skeletal element", + "zeugopod", + "cranial skeletal system", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "abnormal face", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "craniocervical region", + "forelimb zeugopod skeleton", + "facial skeleton", + "anatomical conduit", + "abnormal limb morphology", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of skeleton", + "lateral structure", + "decreased length of anatomical entity", + "bone of pectoral complex", "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", + "subdivision of skeletal system", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "subdivision of head", + "appendage girdle complex", + "manual digit plus metapodial segment", + "abnormal craniocervical region morphology", + "continuant", + "abnormal size of anatomical entity", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "material anatomical entity", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal phenotype by ontology source", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "erythrocyte", + "abnormal blood cell", + "quality", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "skeletal system", + "motile cell", + "skull", + "limb skeleton subdivision", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal forebrain morphology", + "forelimb", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "absent manual digit", + "decreased size of the mandible", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "forelimb zeugopod", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "anatomical system", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", "decreased length of manual digit", - "Abnormality of limbs", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "endochondral element", "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", - "decreased height of the multicellular organism", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", + "Abnormality of limbs", + "membrane bone", + "paired limb/fin", "Hypoplasia of the radius", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "limb", + "increased size of the anatomical entity", + "bone element", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "abnormal limb bone morphology", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "forelimb skeleton", + "genitourinary system", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "Aplasia/hypoplasia of the extremities", "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", + "Hypoplastic facial bones", + "forelimb bone", + "anatomical entity hypoplasia", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "upper limb segment", + "appendicular skeleton", + "appendicular skeletal system", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "bone of appendage girdle complex", + "aplastic manual digit 1", + "dentary", + "segment of autopod", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "arm", + "abnormal nose morphology", + "skeleton", + "organism subdivision", + "forelimb zeugopod bone hypoplasia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", + "integument", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin segment", + "abnormal axial skeleton plus cranial skeleton morphology", + "Opisthokonta", "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", "Short forearm", "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", + "subdivision of digestive tract", + "limb endochondral element", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "multi-limb segment region", "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", + "Limb undergrowth", + "abnormal face morphology", + "radius endochondral element", + "limb long bone", + "zeugopodial skeleton", + "eye", + "compound organ", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "abnormal nervous system", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "forelimb zeugopod bone", + "nervous system", + "Narrow palpebral fissure", + "renal system", + "axial skeleton plus cranial skeleton", "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", + "Abnormality of the nervous system", + "Abnormal hand morphology", + "Metazoa", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "abnormal facial skeleton morphology", + "main body axis", + "Abnormal appendicular skeleton morphology", + "decreased width of the palpebral fissure", "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "abnormal telencephalon morphology", + "body proper", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "axial skeletal system", + "Growth abnormality", + "abnormal orbital region", + "aplasia or hypoplasia of manual digit", + "face", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "delayed growth", "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "Short finger", - "thenar eminence hypoplasia", - "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", + "abnormal ocular adnexa", + "multi organ part structure", + "hemolymphoid system", + "camera-type eye", + "Abnormality of the hand", + "radius bone", + "Anemia", + "ocular adnexa", + "manus", + "abnormal eyelid morphology", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "abnormal size of palpebral fissure", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormality of the orbital region", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "organ part", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormality of the face", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "orbital region", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "internal male genitalia", + "programmed DNA elimination", + "decreased length of long bone", + "obsolete cell", + "digestive system", + "abnormal hematopoietic system", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "Abnormality of the immune system", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormal immune system", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal hematopoietic system morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "nucleate cell", + "oxygen accumulating cell", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Abnormal jaw morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormal digit", + "lower jaw region", + "subdivision of tube", + "anatomical entity hypoplasia in face", + "abnormal digestive system", + "digestive tract", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", - "Short stature", - "decreased size of the multicellular organism", - "abnormal growth", - "abnormal cardiovascular system", - "delayed growth", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "Abnormality of body height", + "tube", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "immune system", + "facial bone", + "mandible", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "abnormal jaw skeleton morphology", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "anterior region of body", + "decreased length of manual digit 1", + "Short digit", + "Short finger", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "anatomical point", + "aplastic anatomical entity", + "Bulbous nose", + "abnormally increased volume of anatomical entity", + "Abnormal external nose morphology", + "Abnormality of the nose", + "nose", + "nose tip", + "olfactory organ", + "Abnormal nasal tip morphology", + "entire sense organ system", + "abnormal external nose morphology", + "immaterial anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "Horseshoe kidney", + "abnormal renal system morphology", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "abnormal renal system", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "3-D shape anatomical entity", + "changed developmental process rate", + "abnormal genitourinary system", + "excretory system", + "Abnormality of the kidney", + "manual digit 1 plus metapodial segment", + "abdomen", + "abdominal segment element", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "metabolic process", + "abdominal segment of trunk", + "biological regulation", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "abnormal chromatin organization", + "abnormal metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", ], }, { - "id": "MONDO:0013499", + "id": "MONDO:0013248", "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.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "name": "Fanconi anemia complementation group O", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], "provided_by": "phenio_nodes", "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", + "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:0000957", - "HP:0000252", - "HP:0002860", + "HP:0040012", "HP:0002984", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", + "HP:0009777", + "HP:0001627", + "HP:0002023", + "HP:0000126", + "HP:0000028", "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", + "HP:0009623", + "HP:0000107", + "HP:0003241", "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045", + "HP:0001245", + "HP:0003774", + "HP:0025023", ], "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Squamous cell carcinoma", + "Chromosome breakage", "Hypoplasia of the radius", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", + "Absent thumb", + "Abnormal heart morphology", + "Anal atresia", + "Hydronephrosis", "Cryptorchidism", - "Pelvic kidney", - "Vitiligo", - ], - "has_phenotype_count": 20, - "has_phenotype_closure": [ - "UPHENO:0002597", - "HP:0000078", - "UPHENO:0003055", - "HP:0000080", - "UPHENO:0053580", - "UPHENO:0050101", - "HP:0012874", - "HP:0000812", - "UPHENO:0081755", - "HP:0000811", - "HP:0000028", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0002595", - "UPHENO:0049367", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "UPHENO:0085874", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0005651", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0082875", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0052178", - "UPHENO:0002240", - "HP:0000002", - "UPHENO:0080352", - "UPHENO:0081424", - "HP:0011017", - "HP:0003221", - "UPHENO:0050116", - "HP:0001939", - "UPHENO:0050021", - "UPHENO:0049990", - "UPHENO:0049748", - "UPHENO:0050113", - "HP:0003220", - "HP:0000079", - "UPHENO:0086023", - "UPHENO:0041226", - "UPHENO:0080382", - "UPHENO:0041629", - "UPHENO:0082129", - "HP:0012210", - "HP:0000085", - "UPHENO:0002332", - "UPHENO:0087427", - "HP:0100542", - "UPHENO:0049940", - "HP:0010935", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "UPHENO:0087430", - "UPHENO:0065599", - "HP:0000436", - "UPHENO:0084715", - "HP:0000414", - "UPHENO:0088168", - "HP:0000086", - "UPHENO:0001072", - "UPHENO:0053298", - "UPHENO:0084727", - "HP:0009381", - "UPHENO:0046624", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076803", - "UPHENO:0083646", - "HP:0034261", - "HP:0004322", - "UPHENO:0002833", - "HP:0009118", - "HP:0011821", - "UPHENO:0046411", - "HP:0000277", - "HP:0025031", - "HP:0000347", - "UPHENO:0081786", - "HP:0000252", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "HP:0002060", - "UPHENO:0076718", - "UPHENO:0054567", - "UPHENO:0004523", - "UPHENO:0085873", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0010461", - "UPHENO:0050625", - "HP:0000929", - "UPHENO:0087802", - "HP:0001000", - "UPHENO:0087547", - "UPHENO:0088170", - "UPHENO:0001001", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0003026", - "UPHENO:0076791", - "UPHENO:0086589", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0002635", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0088162", - "HP:0000953", - "HP:0025033", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0080377", - "UPHENO:0075195", - "UPHENO:0080662", - "UPHENO:0081435", - "UPHENO:0021791", - "HP:0001574", - "HP:0007400", - "HP:0000001", - "HP:0000032", - "UPHENO:0022529", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0050121", - "HP:0002692", - "UPHENO:0074572", - "UPHENO:0080221", - "HP:0000957", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia", + ], + "has_phenotype_count": 15, + "has_phenotype_closure": [ + "UBERON:0000160", + "UBERON:0006866", + "UBERON:0001052", "UPHENO:0086700", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0050845", - "UPHENO:0034770", - "UPHENO:0080099", - "UPHENO:0076739", - "HP:0007364", - "HP:0002977", - "UPHENO:0086595", - "HP:0000492", - "UPHENO:0088116", - "UPHENO:0054970", - "UPHENO:0002378", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0084763", - "UPHENO:0076702", - "UPHENO:0002708", - "UPHENO:0002764", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0087501", - "HP:0000707", - "UPHENO:0086172", - "HP:0001034", - "HP:0001873", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", - "HP:0012443", - "UPHENO:0026181", - "UPHENO:0084987", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086633", - "HP:0030791", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "UPHENO:0074584", - "UPHENO:0081790", - "HP:0001871", - "UPHENO:0079876", - "HP:0000118", - "UPHENO:0080165", - "HP:0001172", - "UPHENO:0076724", - "UPHENO:0085195", - "HP:0011961", + "UBERON:0001015", "UPHENO:0087006", - "HP:0032039", - "UPHENO:0077426", - "HP:0000240", - "HP:0000077", + "UBERON:5001463", + "UPHENO:0009382", + "NCBITaxon:2759", + "UBERON:0019221", + "UBERON:0001442", + "HP:0000001", + "UBERON:0008837", + "UPHENO:0008523", + "UPHENO:0006910", "UPHENO:0002905", - "HP:0012733", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0059829", - "BFO:0000020", - "UPHENO:0074589", - "HP:0200007", - "HP:0000153", - "HP:0006265", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0081788", - "HP:0002860", - "UPHENO:0087123", - "UPHENO:0026183", - "HP:0040068", - "HP:0031704", - "HP:0040070", - "HP:0005922", - "HP:0001045", + "HP:0000077", + "UPHENO:0080114", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "UPHENO:0026506", + "UBERON:0002544", + "UBERON:0005451", + "UPHENO:0081466", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0001423", + "UBERON:0003460", + "UPHENO:0001002", "HP:0009601", - "HP:0001507", - "HP:0045060", - "UPHENO:0076723", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0049700", - "HP:0005927", - "HP:0000125", - "HP:0002817", - "HP:0002984", - "HP:0001876", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0015280", + "UBERON:0003607", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0011582", + "UPHENO:0052178", + "UBERON:0004708", + "UBERON:0013765", + "UBERON:0012139", + "UPHENO:0012541", + "GO:0090304", "UPHENO:0046540", - "UPHENO:0076740", - "HP:0040195", - "UPHENO:0001005", - "HP:0009121", - "UPHENO:0011498", - "HP:0009777", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0001003", - "UPHENO:0085875", - "HP:0011355", - "HP:0009116", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0006910", - "UPHENO:0002907", - "UPHENO:0074575", - "HP:0002011", - "HP:0012145", - "UPHENO:0084766", - "UPHENO:0050008", - "UPHENO:0087518", - "UPHENO:0008523", - "UPHENO:0050108", - "UPHENO:0041075", - "UPHENO:0085144", - "UPHENO:0076703", - "UPHENO:0002371", - "BFO:0000001", - "UPHENO:0088166", - "HP:0040064", + "UBERON:0000477", + "UBERON:0012140", "HP:0001167", - "PATO:0000001", - "UPHENO:0026028", - "HP:0011844", - "UPHENO:0080079", - "HP:0001155", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080200", - "UPHENO:0076805", - "HP:0025461", + "HP:0040064", + "HP:0033127", + "HP:0011425", + "UBERON:0001630", + "UPHENO:0081313", + "HP:0011842", + "UPHENO:0075696", + "HP:0009815", + "UPHENO:0088186", + "HP:0000027", + "UPHENO:0069294", "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", - "HP:0011793", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026506", - "HP:0008069", - "UPHENO:0021561", - "UPHENO:0085189", - "HP:0000315", - "UPHENO:0085118", + "UPHENO:0080079", + "GO:0009892", + "GO:0010605", + "UBERON:0015021", + "UBERON:0002386", + "UPHENO:0086635", + "HP:0000812", + "UBERON:0007272", + "UPHENO:0088142", + "UPHENO:0050108", + "HP:0000107", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0010758", + "UPHENO:0076727", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", "UPHENO:0012274", + "UBERON:0002113", "HP:0011314", - "UPHENO:0081313", - "UPHENO:0087510", - "UPHENO:0046753", - "UPHENO:0046538", + "UPHENO:0084763", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0000126", + "HP:0000083", + "UPHENO:0005597", + "CL:0000300", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0008668", "UPHENO:0068971", + "UBERON:0002529", + "HP:0009826", + "UBERON:0010708", + "HP:0005922", + "UBERON:0005178", + "UPHENO:0049701", + "UPHENO:0081433", + "UPHENO:0002442", + "UBERON:0002389", + "UPHENO:0087349", + "UPHENO:0046538", + "UBERON:0000468", + "UPHENO:0076692", + "UPHENO:0002536", + "UBERON:0001440", + "UPHENO:0020584", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "UBERON:0002091", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0000075", + "UPHENO:0080352", + "UBERON:0010000", + "UPHENO:0020950", + "UBERON:0019231", + "UBERON:0011249", + "PATO:0000001", + "UPHENO:0063565", + "UPHENO:0026028", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0050021", + "UBERON:0001474", + "GO:0006259", + "UBERON:0002100", + "UPHENO:0082875", + "UPHENO:0050121", + "HP:0009821", + "BFO:0000002", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0003101", + "GO:0009890", + "UPHENO:0031839", + "HP:0002664", + "UPHENO:0001005", + "UPHENO:0049990", + "UBERON:0000465", + "UPHENO:0049873", + "UBERON:0000153", + "UPHENO:0002647", + "UPHENO:0087846", + "UBERON:0001555", + "GO:0005623", + "HP:0011961", + "GO:0043170", + "UPHENO:0076703", + "UBERON:0010703", + "GO:0009987", + "GO:0071824", + "BFO:0000001", + "UPHENO:0002371", + "HP:0006496", + "HP:0009778", + "UPHENO:0001003", + "UBERON:0006717", + "CL:0000000", + "GO:0006139", + "UBERON:0003135", + "GO:0031323", + "UBERON:0002513", + 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"UBERON:0004053", + "UBERON:0000473", + "UPHENO:0085194", + "HP:0001172", + "HP:0002973", + "UBERON:0011676", + "HP:0000025", + "GO:0007276", + "UBERON:0000079", + "CL:0000586", + "HP:0000032", + "UBERON:0003606", + "UPHENO:0021561", + "UPHENO:0053298", + "UBERON:0005090", + "HP:0000078", + "HP:0012622", + "UPHENO:0002597", + "UPHENO:0078729", + "UBERON:0000463", + "UPHENO:0076735", + "UBERON:0001968", + "UBERON:0005177", + "HP:0011277", + "CL:0000413", + "CL:0000039", + "UPHENO:0046707", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "HP:0001507", "UPHENO:0080351", - "HP:0009122", + "GO:0010468", + "UPHENO:0000541", + "UPHENO:0076740", + "HP:0100871", + "HP:0000002", + "UPHENO:0049874", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0009127", + "HP:0002250", + "UBERON:0034929", + "UPHENO:0002655", + "UBERON:0000383", + "UPHENO:0081423", + "UBERON:0005409", + "UBERON:0008878", + "UBERON:0004481", + "HP:0011844", + "HP:0001227", + "UBERON:0034925", + "HP:0001421", + "GO:0032502", + "UPHENO:0002832", + "UPHENO:0063632", + "UBERON:0006048", + "UBERON:0007271", + "HP:0003011", + "UBERON:0007269", + "UBERON:0004480", + "UPHENO:0002411", + "HP:0012211", + "HP:0003774", + "HP:0002589", + "UPHENO:0063629", + "UPHENO:0076773", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0002725", + "HP:0011100", + "NCBITaxon:33154", + "HP:0012732", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0012718", + "HP:0025023", + "HP:0002034", + "NCBITaxon:1", ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", + "lower digestive tract", + "intestine", + "rectum", + "Metazoa", + "abnormal alimentary part of gastrointestinal system morphology", + "Rectal atresia", + "Abnormal intestine morphology", + "Abnormality of the gastrointestinal tract", + "large intestine", + "Morphological abnormality of the gastrointestinal tract", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal rectum", + "subdivision of tube", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "rectum atresia", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "Renal insufficiency", + "Intestinal atresia", + "non-functional kidney", + "Chronic kidney disease", + "abnormal musculature", + "Abnormality of the musculature of the hand", + "musculature of body", + "musculature", + "Abnormality of the thenar eminence", + "Abnormal palm morphology", + "Abnormality of the musculature of the upper limbs", + "musculature of upper limb", + "Abnormality of the musculature of the limbs", + "musculature of manus", + "abnormal musculature of limb", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "growth", + "Abnormality of body height", + "Renal cyst", + "intestine atresia", + "Proximal placement of thumb", + "deviation of manual digit", + "Short finger", + "Eumetazoa", + "Eukaryota", + "decreased length of manual digit", + "Short digit", + "decreased length of manual digit 1", + "sperm", + "thenar eminence hypoplasia", + "germ line cell", + "appendage musculature", + "haploid cell", + "abnormal reproductive system", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", "abnormally localised anatomical entity", + "reproductive organ", "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "abnormal number of anatomical enitites of type sperm", + "abnormal male reproductive system", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "male organism", "abnormal spermatogenesis", + "abnormal gamete", + "abnormal developmental process involved in reproduction", + "testis", + "internal male genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "male reproductive system", + "spermatogenesis", + "gamete generation", + "abnormal location of anatomical entity", + "reproduction", + "developmental process involved in reproduction", + "obsolete multicellular organism reproduction", + "abnormal number of anatomical enitites of type sperm", "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", "absent sperm in the independent continuant", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively developmental process", + "Abnormality of male external genitalia", + "semen", + "reproductive structure", + "organism substance", "absent gamete", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "changed developmental process rate", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "abnormal testis morphology", + "abnormally localised testis", + "gonad", + "abnormal number of anatomical enitites of type cell", + "external genitalia", + "developmental process", + "reproductive process", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", "Abnormal testis morphology", "Azoospermia", "Abnormality of the male genitalia", "abnormal multicellular organismal reproductive process", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Pelvic kidney", - "Abnormal cellular physiology", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Abnormality of the urinary system", - "shape anatomical entity", - "abnormal genitourinary system", - "Abnormality of the kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "shape kidney", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", "abnormality of reproductive system physiology", "absent sperm", - "Horseshoe kidney", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", - "Abnormality of body height", - "abnormal external nose morphology", - "Abnormality of the nose", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "increased size of the anatomical entity in independent continuant", - "decreased length of manual digit 1", - "Short digit", + "absent germ cell", + "changed biological_process rate", + "renal pelvis/ureter", + "abdominal segment of trunk", + "abdomen", + "Abnormal renal pelvis morphology", + "increased size of the renal pelvis", + "Abnormality of the upper urinary tract", + "Abnormality of the kidney", + "embryo", + "renal pelvis", + "organ part", + "sexual reproduction", + "abnormal genitourinary system", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "late embryo", + "abnormal musculature of upper limb", + "cavitated compound organ", + "Abnormal fetal genitourinary system morphology", + "Abnormal fetal morphology", + "abnormal renal pelvis", "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "abnormal mandible morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", + "anatomical cluster", + "disconnected anatomical group", + "increased size of the anatomical entity in independent continuant", + "abnormal renal system", + "Abnormal renal morphology", + "renal system", + "kidney", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "Abnormality of prenatal development or birth", + "abnormal renal system morphology", + "abnormal digestive system morphology", + "Neoplasm by anatomical site", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "tube", + "digestive system", + "deviation of manual digit 1", + "digestive tract", "abnormal digestive system", - "aplasia or hypoplasia of mandible", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "Morphological central nervous system abnormality", - "abnormal facial skeleton morphology", - "Abnormality of brain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "aplasia or hypoplasia of telencephalon", - "Decreased head circumference", + "abnormal closing of the anatomical entity", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormal cardiovascular system morphology", + "body proper", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis", + "subdivision of organism along main body axis", "delayed growth", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Squamous cell carcinoma", - "abnormal integument", - "abnormal biological_process", - "Hyperpigmentation of the skin", - "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Abnormality of skin pigmentation", - "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Cafe-au-lait spot", - "Macule", + "abnormal cardiovascular system", + "Gastrointestinal atresia", + "trunk", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", + "circulatory organ", + "viscus", + "Abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", "aplasia or hypoplasia of anatomical entity", "Functional abnormality of male internal genitalia", "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "Short palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal digit", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "Abnormality of digestive system morphology", - "abnormal limb", - "Abnormal appendicular skeleton morphology", - "abnormal head", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "abnormal bone marrow morphology", + "autopodial extension", + "abnormality of internal male genitalia physiology", + "organism subdivision", + "anatomical entity hypoplasia in independent continuant", + "abnormal forelimb morphology", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", + "abnormal cell", + "Abnormality of limbs", "increased size of the anatomical entity", - "Abnormal nervous system morphology", "abnormal limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "increased qualitatively biological_process in independent continuant", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "absent anatomical entity", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "abnormal forebrain morphology", - "absent germ cell", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of skull size", - "abnormal face morphology", - "Limb undergrowth", - "abnormal platelet", - "abnormal reproductive system", - "Abnormality of head or neck", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "terminal part of digestive tract", + "absent anatomical entity in the limb", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "radius endochondral element", + "abnormal arm", + "absent anatomical entity in the forelimb", + "forelimb zeugopod bone", + "abnormal forelimb zeugopod bone", "abnormal limb morphology", + "forelimb zeugopod skeleton", + "palmar part of manus", "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "absent digit", - "quality", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormality of the skin", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "abnormal sensory perception", - "abnormal manus", - "Finger aplasia", - "abnormal skull morphology", - "Abnormal platelet morphology", - "mandible hypoplasia", - "phenotype by ontology source", - "aplastic manual digit 1", - "Aplasia/Hypoplasia of the thumb", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "abnormal arm", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "decreased biological_process", - "Short stature", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased length of palpebral fissure", - "abnormal blood cell", - "abnormal pigmentation", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "decreased height of the multicellular organism", - "Short long bone", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Abnormality of the head", - "Neoplasm of the skin", - "decreased length of long bone", + "anatomical entity", "abnormal radius bone morphology", - "abnormal face", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Aplasia/Hypoplasia of the radius", - "anatomical entity hypoplasia in independent continuant", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "phenotype", - "Abnormal cell morphology", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "limb endochondral element", + "abnormal appendicular skeleton morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "acropodium region", + "Hypoplasia of the radius", + "paired limb/fin", + "alimentary part of gastrointestinal system", + "muscle organ", "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", "abnormal anatomical entity length", - "abnormal palpebral fissure", - "abnormally decreased number of cell", + "regulation of macromolecule biosynthetic process", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", "absent sperm in the semen", + "Hydronephrosis", "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", "abnormal cellular metabolic process", "abnormal bone of pectoral complex morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "abnormal limb long bone morphology", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "changed biological_process rate in independent continuant", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", + "phenotype by ontology source", + "Non-obstructive azoospermia", + "regulation of cellular biosynthetic process", + "biological regulation", + "Abnormal thumb morphology", + "Abnormal upper limb bone morphology", + "aplasia or hypoplasia of skeleton", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", + "genitourinary system", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "male gamete generation", + "skeleton", + "decreased height of the multicellular organism", + "Short long bone", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormality of renal system physiology", + "quality", + "regulation of gene expression", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "negative regulation of gene expression", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "continuant", + "cellular metabolic process", "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormal erythrocyte morphology", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "metabolic process", + "Small thenar eminence", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "abnormal cellular process", + "Abnormal long bone morphology", + "limb skeleton subdivision", + "Upper limb undergrowth", + "limb", + "Abnormality of the upper limb", + "cell", + "abnormal growth", + "independent continuant", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "abnormal intestine morphology", + "aplastic manual digit 1", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "Abnormal appendicular skeleton morphology", + "material entity", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "Abnormal cellular physiology", + "organic substance metabolic process", + "organ", + "occurrent", + "upper limb segment", + "appendicular skeleton", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", "aplasia or hypoplasia of radius bone", - "decreased size of the mandible", + "pectoral appendage musculature", + "abnormal metabolic process", + "external male genitalia", + "chromatin organization", + "muscle structure", + "material anatomical entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", + "programmed DNA elimination", + "digit", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", "abnormal anatomical entity", "Abnormal forearm morphology", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased spermatogenesis", - "abnormal kidney morphology", - "decreased width of the palpebral fissure", - "Abnormality of the palpebral fissures", + "appendage girdle complex", + "macromolecule metabolic process", + "thenar eminence", + "Abnormality of digestive system morphology", + "abnormal limb", + "manus", + "abnormal biological_process", + "abnormal thenar eminence", + "abdominal segment element", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "biological_process", + "phenotype", + "obsolete nitrogen compound metabolic process", + "radius bone hypoplasia", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "subdivision of organism along appendicular axis", + "deviation of anatomical entity", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "obsolete cellular aromatic compound metabolic process", + "absent digit", + "nucleobase-containing compound metabolic process", + "Abnormal external genitalia", + "negative regulation of biological process", "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormal eyelid morphology", - "abnormal hematopoietic system", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", + "regulation of cellular process", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "abnormal long bone morphology", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "Limb undergrowth", + "Aplasia/Hypoplasia of the radius", + "subdivision of skeleton", + "endochondral bone", "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal ocular adnexa", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Narrow palpebral fissure", - "decreased height of the anatomical entity", - "Abnormality of the face", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Growth delay", - "abnormal cell", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Pancytopenia", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Anemia", - "abnormal bone marrow cell", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Aplasia/Hypoplasia of the mandible", + "forelimb zeugopod bone hypoplasia", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal upper urinary tract", + "musculoskeletal system", + "skeletal system", + "primary metabolic process", + "decreased length of long bone", + "Abnormality of the urinary system", + "forelimb bone", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal skeletal system", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "Abnormality of the anus", + "organ system subdivision", + "trunk region element", + "pectoral complex", + "abnormal size of multicellular organism", + "bone element", + "Opisthokonta", + "paired limb/fin segment", + "endochondral element", + "multi-limb segment region", + "abnormal limb bone morphology", + "root", + "appendage", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "decreased size of the anatomical entity in the independent continuant", + "system", + "aplasia or hypoplasia of manual digit 1", + "anatomical system", + "anal region", + "paired limb/fin skeleton", + "zeugopod", + "skeletal element", + "abnormal heart morphology", + "skeleton of limb", + "multicellular anatomical structure", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "forelimb long bone", "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Abnormality of the digestive system", - "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "abnormal mouth morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "bone element hypoplasia in face", + "manual digit 1", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "segment of manus", + "pectoral appendage skeleton", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "manual digitopodium region", + "Finger aplasia", + "Neoplasm", + "manual digit 1 or 5", + "manual digit 1 plus metapodial segment", + "organism", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "Abnormality of the hand", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "primary circulatory organ", + "digit 1 or 5", + "Abnormal finger morphology", + "anterior region of body", + "aplastic anatomical entity", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "cellular process", + "Abnormal digit morphology", + "digit 1 plus metapodial segment", + "agenesis of anatomical entity", + "digit plus metapodial segment", + "absent anatomical entity", + "Short thumb", + "abnormal manual digit 1 morphology", + "abnormal digit morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", + "skeleton of manus", + "radius bone", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "heart", ], }, { "id": "MONDO:0024525", "category": "biolink:Disease", "name": "Fanconi renotubular syndrome 1", - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600"], "provided_by": "phenio_nodes", "synonym": [ "DeToni-Debré-Fanconi syndrome", @@ -7002,35 +11319,6 @@ def autocomplete_response(): "HP:0004322", "HP:0003126", "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", ], "has_phenotype_label": [ "Osteomalacia", @@ -7049,672 +11337,708 @@ def autocomplete_response(): "Short stature", "Low-molecular-weight proteinuria", "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", ], - "has_phenotype_count": 39, + "has_phenotype_count": 16, "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", - "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", - "UPHENO:0068442", - "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", + "CHEBI:32988", + "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:37622", + "CHEBI:16670", + "UPHENO:0081424", + "UPHENO:0069254", + "UPHENO:0020584", + "UPHENO:0049874", + "UPHENO:0075159", + "UPHENO:0000541", + "UPHENO:0086132", + "UPHENO:0075195", + "GO:0040007", + "CHEBI:33608", + "UPHENO:0068144", + "CHEBI:35605", + "UPHENO:0068169", + "UPHENO:0068040", + "CHEBI:36587", + "CHEBI:24651", "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33575", + "UPHENO:0068495", + "CHEBI:33709", + "HP:0003355", + "UPHENO:0068538", + "UPHENO:0046286", + "CHEBI:35352", + "UPHENO:0082943", + "HP:0012379", + "UPHENO:0068971", + "CHEBI:33695", + "CHEBI:33694", + "CHEBI:51143", + "HP:0004379", + "UPHENO:0075666", "UPHENO:0081777", - "UPHENO:0066927", + "CHEBI:50047", + "UPHENO:0046362", + "PR:000018263", + "CHEBI:33285", + "UPHENO:0080658", + "CHEBI:18133", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:17234", + "CHEBI:36962", + "HP:0020129", + "UPHENO:0046348", + "CHEBI:15693", "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", - "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", - "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", - "UPHENO:0002816", - "HP:0001824", - "UPHENO:0034253", - "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", - "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", + "UPHENO:0066927", + "CHEBI:33259", + "UPHENO:0078554", + "UPHENO:0002332", + "UPHENO:0077821", + "CHEBI:36357", + "CHEBI:24870", + "UBERON:0000064", + "GO:0050801", + "GO:0048878", "HP:0002148", - "UPHENO:0050121", + "CHEBI:23367", + "UPHENO:0076289", + "HP:0001324", + "HP:0000083", + "GO:0032501", + "HP:0011804", + "HP:0001507", + "CHEBI:37577", + "HP:0001510", + "HP:0003109", + "HP:0012591", + "HP:0000079", + "UPHENO:0068511", + "BFO:0000002", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", "UPHENO:0046283", "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", - "HP:0003111", - "HP:0000079", - "HP:0004379", + "CHEBI:36963", + "UPHENO:0051186", + "UPHENO:0068054", + "UBERON:8450002", + "UBERON:0001088", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "CHEBI:25806", + "HP:0032943", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "CHEBI:60004", + "HP:0001942", "HP:0004360", "UPHENO:0051640", "UPHENO:0081546", - "UPHENO:0079822", - "UPHENO:0050539", - "HP:0011849", - "UPHENO:0048707", - "HP:0012211", - "UPHENO:0051847", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", - "UPHENO:0002964", - "UPHENO:0084653", - "UPHENO:0002320", - "HP:0430071", + "UPHENO:0034391", + "UPHENO:0024906", + "HP:0003011", + "HP:0012337", + "HP:0001871", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "HP:0004348", + "UPHENO:0052008", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", "UPHENO:0082835", - "UPHENO:0068040", - "HP:0100529", - "UPHENO:0001005", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0051686", - "UPHENO:0001002", - "UPHENO:0046284", + "CHEBI:64709", + "UPHENO:0079536", + "UBERON:0003914", + "UPHENO:0051937", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "CHEBI:23906", + "HP:0002749", + "UPHENO:0002320", + "UPHENO:0084653", "UPHENO:0068110", - "HP:0001947", - "UPHENO:0051645", - "UPHENO:0020748", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", + "UBERON:0003103", + "UBERON:0001231", + "UBERON:0004111", + "GO:0070293", + "UPHENO:0001005", + "HP:0040156", + "CHEBI:26020", + "UBERON:0000463", + "GO:0001503", + "UBERON:0000062", "HP:0000093", - "HP:0000001", - "HP:0004348", - "UPHENO:0082834", - "HP:0003774", - "UPHENO:0080659", - "UPHENO:0051668", - "UPHENO:0052116", - "HP:0000924", - "HP:0003330", - "HP:0010930", - "UPHENO:0046348", - "HP:0020129", - "HP:0000077", + "GO:0055062", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "UBERON:0002417", + "CHEBI:22314", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "HP:0011849", + "UPHENO:0048707", + "GO:0003008", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0051280", + "UBERON:0001015", + "CHEBI:36080", + "UBERON:0006314", + "CHEBI:37247", + "HP:0000118", + "GO:0008152", + "UPHENO:0086128", + "UPHENO:0049587", + "GO:0042592", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082539", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", "UPHENO:0068089", - "UPHENO:0051937", - "HP:0002749", - "UPHENO:0001001", - "UPHENO:0081440", - "UPHENO:0086908", - "HP:0012599", + "HP:0003330", + "UBERON:0011216", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:28358", + "UBERON:0002100", + "CHEBI:33504", + "UBERON:0001434", + "UPHENO:0001003", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "BFO:0000015", + "UBERON:0000467", + "UBERON:0004765", "UPHENO:0075696", "HP:0011842", - "HP:0002150", + "UBERON:0001630", "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", - "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", + "UPHENO:0001001", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0080555", + "UBERON:0000178", + "UPHENO:0068094", + "UPHENO:0076692", + "UPHENO:0002536", + "CHEBI:33238", + "UPHENO:0049628", "HP:0001939", + "CHEBI:35381", + "UBERON:0001062", + "CHEBI:72695", "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", - "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", + "UPHENO:0081550", + "GO:0008150", + "UPHENO:0051763", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:33250", + "UBERON:0002113", + "CHEBI:26082", + "CHEBI:33241", "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", + "CHEBI:36359", + "UPHENO:0049904", + "HP:0100529", + "UPHENO:0034217", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", + "UBERON:0004120", + "CHEBI:33675", + "UBERON:0002193", + "CHEBI:33302", + "CHEBI:16646", + "HP:0000124", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "UBERON:0004819", + "UPHENO:0002816", + "UBERON:0011143", "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", - "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", - "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", - "HP:0003355", - "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0009773", + "UPHENO:0068352", + "UPHENO:0051847", + "UBERON:0005177", + "UBERON:0005173", + "UPHENO:0002411", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", "HP:0001992", - "HP:0002086", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", - "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", - "UPHENO:0050116", - "HP:0012606", - "HP:0001941", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0051709", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "UBERON:0011676", + "UBERON:0009569", + "GO:0003014", + "UBERON:0005172", + "CHEBI:78616", + "HP:0000077", + "UBERON:0004122", + "HP:0010935", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "HP:0010929", + "UPHENO:0051898", + "PR:000000001", + "UPHENO:0034199", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068247", + "GO:0055067", + "CHEBI:26217", + "UPHENO:0034438", + "UPHENO:0051958", + "CHEBI:25213", "HP:0003648", + "HP:0001941", "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", - "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", - "UPHENO:0051712", - "UPHENO:0049587", - "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616", + "CHEBI:29103", + "CHEBI:33296", + "HP:0000002", + "HP:0033354", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0080659", + "UPHENO:0051645", + "HP:0003126", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "HP:0034359", + "UBERON:0000383", + "UPHENO:0051635", + "CHEBI:33674", + "UPHENO:0068058", + "CHEBI:50860", ], "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", - "Pain", - "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "increased level of protein polypeptide chain in urine", + "carboxamide", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "peptide", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "abnormal anatomical entity morphology in the independent continuant", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Growth abnormality", + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", - "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", - "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "increased level of nitrogen molecular entity in independent continuant", + "molecule", "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", + "amino acid", + "increased level of carboxylic acid in independent continuant", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of protein", + "nitrogen molecular entity", + "protein", + "Abnormal circulating enzyme concentration or activity", + "organic amino compound", + "alkaline phosphatase, tissue-nonspecific isozyme", + "macromolecule", + "organooxygen compound", + "heteroorganic entity", + "increased level of organic molecular entity in independent continuant", "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", + "monoatomic ion", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", + "decreased size of the anatomical entity", + "blood", + "inorganic ion", "abnormal homeostatic process", "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", + "main body axis", + "polypeptide", "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", + "anatomical structure", + "anatomical conduit", + "abnormal renal absorption", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", + "increased independent continuant base level", + "muscle organ", "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", - "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", - "Abnormality of urine homeostasis", + "rac-lactic acid", + "abnormality of anatomical entity height", + "metal atom", + "abnormal blood potassium atom level", + "increased level of rac-lactic acid in urine", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "chemical substance", "Aciduria", "Abnormality of the urinary system", "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", - "abnormality of renal system physiology", - "quality", - "abnormal amino-acid betaine level", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", - "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", - "abnormal cell", + "phosphate ion homeostasis", + "racemate", "increased level of chemical entity in urine", "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", + "abnormal chemical homeostasis", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "heteroatomic molecular entity", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "potassium atom", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", + "process", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "Metabolic acidosis", + "All", + "material entity", + "Acidosis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "Phenotypic abnormality", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", + "increased level of chemical entity in independent continuant", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", "Abnormal bone structure", + "anatomical system", + "potassium(1+)", "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "homeostatic process", + "Abnormal enzyme concentration or activity", "Abnormal muscle physiology", "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "organochalcogen compound", + "abnormal anatomical entity", + "renal system", + "phenotype", + "hydrogen molecular entity", + "nephron tubule", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "decreased level of potassium atom in blood", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "abnormal urine glucose level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", + "main group element atom", + "skeletal system", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "genitourinary system", + "atom", + "renal tubule", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system process", + "multicellular anatomical structure", + "pnictogen molecular entity", + "obsolete monovalent inorganic cation homeostasis", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal genitourinary system", "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", + "organ system subdivision", "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", - "delayed biological_process", + "bone element", "abnormal growth", - "abnormal blood uric acid level", - "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", + "independent continuant", + "abnormality of muscle organ physiology", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "occurrent", + "organ", + "chemical homeostasis", + "increased independent continuant acid level", + "chemical entity", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "abnormal biological_process", + "abnormal role bodily fluid level", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "inorganic cation", + "increased level of chemical entity", + "renal absorption", + "carbon group molecular entity", + "metabolic process", + "material anatomical entity", + "muscle structure", + "Abnormality of the urinary system physiology", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "polyatomic entity", + "ion", + "phosphorus molecular entity", + "trunk", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "multicellular organismal process", + "abnormal blood phosphate level", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "Elevated circulating alkaline phosphatase concentration", + "abnormality of kidney physiology", + "main group molecular entity", + "biomacromolecule", + "p-block molecular entity", + "haemolymphatic fluid", + "Renal tubular dysfunction", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "carbohydrates and carbohydrate derivatives", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "nephron epithelium", + "uriniferous tubule", + "musculoskeletal system", + "abnormal upper urinary tract", + "organism subdivision", + "hematopoietic system", + "multicellular organism", + "Impaired renal tubular reabsorption of phosphate", + "excretory tube", + "lateral structure", + "trunk region element", + "Abnormality of the kidney", + "abdomen", + "subdivision of organism along main body axis", + "chalcogen molecular entity", + "Abnormal renal physiology", + "abnormal kidney", + "increased level of glucose in urine", + "body proper", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "oxoacid derivative", + "increased level of phosphate in urine", + "Abnormal blood cation concentration", + "abnormal blood potassium(1+) level", + "musculature", + "decreased role blood level", + "monovalent inorganic cation", + "abnormal role independent continuant level", + "metal cation", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "s-block element atom", + "s-block molecular entity", "Hypokalemia", - "Decreased circulating purine concentration", + "Abnormal blood monovalent inorganic cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "elemental potassium", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "abnormal phosphate level", + "decreased level of chemical entity", + "system process", + "abnormal independent continuant amino acid level", + "renal system process", + "anatomical entity", + "Abnormal renal tubular resorption", + "abnormal independent continuant chemical entity level", + "Abnormality of renal excretion", + "increased level of glucose in independent continuant", + "monosaccharide", + "organic molecular entity", + "oxygen molecular entity", ], }, { @@ -7761,363 +12085,676 @@ def autocomplete_response(): "has_phenotype_count": 8, "has_phenotype_closure": [ "UPHENO:0012541", + "HP:0001510", "UPHENO:0000543", - "HP:0004322", + "UPHENO:0081424", + "UPHENO:0049874", "HP:0000002", + "GO:0040007", "HP:0001507", - "UPHENO:0068971", - "UPHENO:0081423", - "UPHENO:0088162", + "CL:0000329", + "HP:0012130", "HP:0001877", - "HP:0001903", - "UPHENO:0088170", - "HP:0011017", + "UPHENO:0088162", + "CL:0000764", "UPHENO:0078606", - "UPHENO:0049587", - "UPHENO:0050116", + "HP:0003220", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:1901360", + "GO:0043170", + "GO:0006139", + "GO:0046483", + "GO:0010629", "UPHENO:0050021", + "UPHENO:0050845", "UPHENO:0050121", + "GO:0010468", + "GO:0010558", + "GO:0031327", + "GO:0006325", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "HP:0003221", "UPHENO:0049990", - "HP:0001510", - "UPHENO:0049873", + "GO:0005623", + "GO:0031049", + "GO:0071840", "UPHENO:0049748", - "HP:0040012", - "HP:0003220", - "UPHENO:0077826", - "UPHENO:0081547", - "HP:0004364", - "UPHENO:0051801", - "UPHENO:0048751", - "UPHENO:0077821", - "UPHENO:0051680", - "HP:0010876", - "UPHENO:0046284", - "UPHENO:0088318", - "UPHENO:0084928", - "UPHENO:0085195", - "BFO:0000002", - "UPHENO:0085076", - "UPHENO:0077813", - "UPHENO:0085984", - "UPHENO:0085371", - "HP:0032251", - "HP:0020047", - "HP:0011893", - "UPHENO:0049700", - "UPHENO:0085330", - "UPHENO:0022529", - "UPHENO:0051936", - "UPHENO:0075220", - "UPHENO:0049874", - "UPHENO:0086049", - "BFO:0000001", - "UPHENO:0035025", - "UPHENO:0088321", - "UPHENO:0085068", - "HP:0001939", - "UPHENO:0088335", + "GO:0031052", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", "UPHENO:0050113", - "HP:0000929", - "HP:0005528", + "CHEBI:36963", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "UBERON:0002204", + "HP:0000240", + "UBERON:0000475", + "HP:0025354", + "UPHENO:0082943", + "PATO:0000001", + "HP:0000152", + "UPHENO:0086016", + "NCBITaxon:2759", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "HP:0004322", + "UBERON:0003129", + "HP:0002060", + "CL:0000988", + "UPHENO:0081435", + "HP:0010987", + "HP:0000924", + "GO:0016043", + "HP:0002011", + "HP:0012145", + "UPHENO:0081566", + "HP:0006254", + "UBERON:0000062", + "GO:0044237", + "HP:0002977", + "GO:0071704", + "CL:0000219", + "UBERON:0007811", + "CL:0000738", + "CL:0000255", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0022529", + "UBERON:0011676", + "UBERON:0000061", + "UPHENO:0049587", + "UPHENO:0002844", + "UPHENO:0001002", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000179", + "GO:0090304", + "UPHENO:0015280", + "HP:0045056", + "UPHENO:0085344", + "HP:0001881", "HP:0032309", - "UPHENO:0080351", + "UPHENO:0001003", + "UPHENO:0051612", + "UPHENO:0085189", + "UPHENO:0076805", + "HP:0025461", + "GO:0034641", + "HP:0011893", + "UPHENO:0084928", + "UPHENO:0088318", + "UPHENO:0087123", + "UPHENO:0087089", "UPHENO:0020584", - "UPHENO:0076799", - "UPHENO:0006910", + "UPHENO:0085356", + "CL:0002242", + "GO:0010556", + "PR:000050567", + "UPHENO:0085076", + "BFO:0000003", "UPHENO:0051804", + "GO:0006807", + "UPHENO:0006910", "HP:0012639", - "UPHENO:0085144", - "UPHENO:0086045", - "UPHENO:0086016", - "HP:0003221", - "UPHENO:0085356", - "UPHENO:0076702", - "UPHENO:0085302", - "UPHENO:0085344", - "HP:0001881", - "HP:0000707", - "UPHENO:0088176", - "UPHENO:0002948", - "UPHENO:0000541", - "UPHENO:0086005", - "HP:0000118", - "UPHENO:0076675", - "UPHENO:0085042", - "UPHENO:0004523", - "HP:0002715", - "UPHENO:0085118", - "HP:0010974", - "HP:0012443", - "PATO:0000001", - "UPHENO:0004459", - "UPHENO:0076286", - "UPHENO:0077426", - "HP:0001871", + "BFO:0000002", + "UPHENO:0086019", + "UPHENO:0011498", + "UPHENO:0077822", + "UBERON:0004120", + "HP:0000001", + "HP:0011842", "UPHENO:0075696", + "HP:0001871", + "UPHENO:0077426", "HP:0001875", - "UPHENO:0076289", - "UPHENO:0086172", + "UPHENO:0075195", + "CL:0000766", + "HP:0040195", "UPHENO:0001005", - "HP:0000001", - "UPHENO:0077822", - "UPHENO:0086019", - "UPHENO:0011498", - "UPHENO:0081424", + "CHEBI:24431", + "UBERON:0000468", + "UPHENO:0085984", + "CHEBI:51143", + "HP:0012443", + "UBERON:0034923", + "HP:0002715", + "UPHENO:0085118", "HP:0009121", - "UPHENO:0085354", - "UPHENO:0088166", "UPHENO:0076703", - "UPHENO:0001003", - "HP:0045056", - "UPHENO:0015280", - "UPHENO:0086176", - "HP:0032180", + "BFO:0000001", + "UPHENO:0088166", + "UBERON:0002193", + "CL:0001035", + "UPHENO:0085354", + "PR:000018263", + "UPHENO:0085371", + "CL:0000457", + "UPHENO:0046362", + "HP:0007364", + "CL:0000094", + "UPHENO:0088338", + "HP:0000234", + "UPHENO:0002948", + "CHEBI:33256", + "HP:0000118", + "UBERON:0000033", + "UBERON:0000178", + "UPHENO:0002536", + "NCBITaxon:33208", + "UPHENO:0076692", + "GO:0065007", + "HP:0010974", + "UPHENO:0085070", "UPHENO:0063722", "HP:0001872", - "UPHENO:0050845", - "HP:0430071", - "HP:0011991", + "HP:0032180", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0011875", + "GO:0050789", + "UBERON:0013701", + "UBERON:0011137", "BFO:0000020", - "UPHENO:0002536", - "HP:0040195", - "UPHENO:0075195", - "UPHENO:0086173", - "UPHENO:0001001", - "UPHENO:0076791", - "HP:0007364", - "UPHENO:0051668", - "HP:0002977", - "UPHENO:0087907", + "HP:0011991", + "UPHENO:0085042", + "HP:0430071", + "UPHENO:0076675", + "CHEBI:36962", + "UPHENO:0049700", "HP:0001911", + "UPHENO:0085405", "UPHENO:0002764", - "HP:0001874", - "UPHENO:0076805", - "HP:0033127", - "UPHENO:0087123", - "UPHENO:0087089", - "HP:0011842", - "HP:0000240", + "HP:0000252", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0088321", + "BFO:0000040", + "UPHENO:0004459", + "CL:0000233", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0032251", + "HP:0040012", + "UPHENO:0086005", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0011216", + "UPHENO:0086045", + "UBERON:0010323", + "CL:0000000", + "CL:0000763", + "CL:0000458", + "UPHENO:0088170", + "GO:0044238", + "UPHENO:0001001", "UPHENO:0086589", - "HP:0012145", - "HP:0002011", - "UPHENO:0088338", - "HP:0000234", - "UPHENO:0020888", + "UPHENO:0076791", + "CHEBI:37622", + "CL:0000775", + "UBERON:0000075", + "UPHENO:0051680", + "UBERON:0010000", + "UBERON:0002390", + "CHEBI:15841", + "UBERON:0004121", + "UPHENO:0088335", + "GO:0006996", + "HP:0001939", + "GO:0031326", + "UBERON:0002090", + "CHEBI:23367", "UPHENO:0069254", - "HP:0002060", - "HP:0000152", - "HP:0010987", - "HP:0000924", - "UPHENO:0081435", - "UPHENO:0080079", - "HP:0001873", - "HP:0000252", + "UPHENO:0075220", + "UPHENO:0051936", + "OBI:0100026", "UPHENO:0087518", + "UPHENO:0075159", "HP:0100547", - "UPHENO:0046378", - "UPHENO:0002964", - "UPHENO:0001002", - "UPHENO:0002844", - "HP:0025461", - "UPHENO:0085189", + "UPHENO:0076799", + "UBERON:0000481", + "GO:0006725", + "UBERON:0001893", "UPHENO:0080200", - "HP:0006254", - "UPHENO:0081566", + "UBERON:0001890", + "UPHENO:0087907", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "NCBITaxon:33154", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", + "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "NCBITaxon:131567", + "UBERON:0001434", + "CL:0000225", + "UBERON:0010912", + "HP:0000929", + "UBERON:0000955", + "UBERON:0000073", + "NCBITaxon:6072", + "UPHENO:0086173", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", "HP:0011873", - "UPHENO:0051612", - "UPHENO:0080352", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0085405", - "HP:0011875", - "UPHENO:0075159", - "UPHENO:0087339", + "CL:0000151", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0085302", + "UPHENO:0051668", + "CHEBI:33579", "UPHENO:0087355", + "UPHENO:0049873", + "UBERON:0000153", "HP:0005561", - "HP:0025354", - "UPHENO:0082943", + "UPHENO:0087339", + "UPHENO:0085195", + "GO:0006259", + "UBERON:0001474", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0035025", + "UBERON:0000479", + "HP:0005528", + "HP:0020047", + "CL:0002092", + "UBERON:0002371", + "UPHENO:0046284", + "UPHENO:0085330", + "GO:0008152", + "CHEBI:33839", + "CHEBI:16670", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "UPHENO:0077826", + "PR:000003809", + "UPHENO:0076289", + "CHEBI:50047", + "UBERON:0006314", + "CHEBI:36080", "UPHENO:0051763", - "UPHENO:0084987", - "UPHENO:0048707", - "HP:0012130", - "UPHENO:0046362", + "UBERON:0001016", + "CHEBI:36357", + "UPHENO:0077821", + "UBERON:0000463", + "CHEBI:50860", + "CHEBI:25806", + "HP:0004364", + "HP:0010876", + "CHEBI:33694", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UPHENO:0051801", + "BFO:0000015", + "UBERON:0002616", + "UPHENO:0048751", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:33675", + "UPHENO:0046378", + "NCBITaxon:1", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285", ], "has_phenotype_closure_label": [ - "abnormal growth", - "decreased size of the multicellular organism", - "delayed biological_process", + "delayed growth", + "decreased height of the anatomical entity", + "abnormality of multicellular organism height", "Growth delay", "abnormality of anatomical entity height", - "abnormality of multicellular organism height", + "Short stature", + "decreased size of the multicellular organism", + "delayed biological_process", + "decreased height of the multicellular organism", "Abnormality of body height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "Abnormality of chromosome stability", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", "Abnormal erythrocyte morphology", - "Abnormal cellular physiology", - "abnormal biological_process", - "abnormal primary metabolic process", - "abnormal protein level", - "abnormal independent continuant protein polypeptide chain level", - "abnormal cellular metabolic process", - "increased level of alpha-fetoprotein", - "increased level of chemical entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood nitrogen molecular entity level", - "abnormal role bodily fluid level", - "abnormal blood alpha-fetoprotein level", - "abnormally decreased number of anatomical entity in the independent continuant", - "Neutropenia", - "abnormal blood chemical entity level", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "abnormal erythrocyte morphology", - "Elevated circulating alpha-fetoprotein concentration", - "abnormally decreased number of anatomical entity", - "Abnormality of the immune system", - "Abnormal leukocyte count", - "abnormal granulocyte morphology", - "delayed growth", - "Decreased head circumference", - "abnormal DNA metabolic process", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of myeloid cell", - "Abnormal circulating alpha-fetoprotein concentration", - "abnormal alpha-fetoprotein level", - "abnormal central nervous system morphology", - "aplasia or hypoplasia of anatomical entity", - "abnormal immune system", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "Abnormal cerebral morphology", - "abnormal independent continuant protein level", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of skull size", - "Abnormality of neutrophils", - "abnormally decreased number of cell in the independent continuant", - "phenotype", - "quality", - "Growth abnormality", - "abnormal cellular process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal craniocervical region", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "Short stature", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal head morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "abnormal neutrophil", - "Abnormal cell morphology", - "abnormal myeloid leukocyte morphology", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal cellular component organization", - "specifically dependent continuant", - "Abnormal circulating organic compound concentration", - "abnormal immune system morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "Thrombocytopenia", - "Abnormal forebrain morphology", - "Anemia", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "abnormal cellular metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", + "abnormal cellular component organization", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "cellular component organization", + "regulation of biological process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular component organization or biogenesis", + "abnormal primary metabolic process", + "programmed DNA elimination", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "abnormal anatomical entity morphology in the brain", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "Microcephaly", + "Aplasia/Hypoplasia involving the central nervous system", + "cellular organisms", + "polyatomic entity", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "regional part of nervous system", + "forebrain", + "abnormal craniocervical region morphology", + "subdivision of skeleton", + "Abnormality of brain morphology", + "skull", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the skeletal system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "multi-tissue structure", + "immune system", + "myeloid cell", + "hematopoietic cell", + "eukaryotic cell", + "organism", + "anatomical system", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "organic molecular entity", + "aplasia or hypoplasia of anatomical entity", "Abnormality of the head", - "abnormal phenotype by ontology source", - "Abnormal cellular phenotype", - "phenotype by ontology source", - "abnormal leukocyte morphology", - "abnormally decreased number of cell", - "abnormal cell", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "cranial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", + "abnormal immune system morphology", + "Eukaryota", + "Eumetazoa", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "nitrogen molecular entity", + "chromatin organization", "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic system", - "entity", - "Abnormality of blood and blood-forming tissues", - "abnormal cell morphology", - "abnormal size of skull", - "abnormally decreased number of hematopoietic cell", - "abnormal head", - "abnormal bone marrow morphology", + "abnormal cell", + "oxygen accumulating cell", + "protein", + "abnormally decreased number of cell", + "oxygen molecular entity", + "skeleton", + "bone marrow", + "neutrophil", + "cell", + "Morphological central nervous system abnormality", + "root", + "organonitrogen compound", + "chemical entity", "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "Abnormal myeloid cell morphology", + "Abnormal granulocyte morphology", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal skull morphology", + "increased level of protein", + "mesoderm-derived structure", + "macromolecule", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "quality", + "Abnormal cell morphology", + "phenotype", + "anatomical entity", + "anatomical structure", + "organism subdivision", "abnormally decreased number of leukocyte in the independent continuant", + "abnormal hematopoietic cell morphology", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "brain", "abnormal anatomical entity morphology in the independent continuant", "Abnormal neutrophil count", + "Abnormality of neutrophils", + "Abnormality of skull size", + "multicellular anatomical structure", + "skeletal system", + "motile cell", + "abnormally decreased number of hematopoietic cell", + "pnictogen molecular entity", + "Elevated circulating alpha-fetoprotein concentration", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "abnormal alpha-fetoprotein level", + "material entity", + "organic amino compound", + "Abnormal cellular phenotype", + "abnormal phenotype by ontology source", + "erythrocyte", + "organ system subdivision", "abnormal blood cell", - "All", - "continuant", - "abnormal craniocervical region morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal cellular immune system morphology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "abnormal telencephalon morphology", - "Abnormal leukocyte morphology", - "abnormal brain morphology", - "Abnormal skull morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "Abnormal circulating metabolite concentration", - "Abnormality of head or neck", - "Morphological central nervous system abnormality", - "decreased height of the multicellular organism", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "abnormal postcranial axial skeleton morphology", + "disconnected anatomical group", + "abnormal hematopoietic system", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal immune system", + "abnormally decreased number of cell in the independent continuant", + "Neutropenia", "abnormal number of anatomical enitites of type neutrophil", "abnormal nervous system", - "abnormal bone marrow cell", - "abnormal chromatin organization", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", + "nucleate cell", + "postcranial axial skeletal system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "abnormal growth", + "independent continuant", + "abnormal leukocyte morphology", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "non-connected functional system", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormal DNA metabolic process", + "blood cell", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "anatomical collection", + "All", + "abnormal granulocyte morphology", + "abnormal craniocervical region", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "anucleate cell", + "regulation of cellular biosynthetic process", + "biological regulation", + "hematopoietic system", + "multicellular organism", + "primary amide", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "granulocyte", + "hemolymphoid system", + "abnormal blood alpha-fetoprotein level", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of head or neck", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "central nervous system", + "regional part of brain", + "nervous system", + "musculoskeletal system", + "craniocervical region", + "haemolymphatic fluid", "decreased size of the anatomical entity", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "Abnormality of the skeletal system", + "blood", + "axial skeletal system", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", "abnormal skeletal system", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "abnormal bone marrow morphology", + "subdivision of organism along main body axis", + "main body axis", + "regulation of macromolecule biosynthetic process", + "abnormally decreased number of granulocyte", + "Abnormal circulating metabolite concentration", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "abnormal erythroid lineage cell morphology", - "increased level of protein", - "abnormal skull morphology", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", + "Metazoa", + "abnormal biological_process", + "abnormal role bodily fluid level", + "abnormal size of skull", + "Decreased head circumference", + "abnormal telencephalon morphology", + "body proper", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "amino acid chain", + "Opisthokonta", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", "abnormally decreased number of platelet", "abnormal number of anatomical enitites of type platelet", - "abnormal platelet morphology", - "Abnormal platelet count", "abnormal platelet", - "Abnormality of thrombocytes", + "Anemia", + "abnormal bone marrow cell", + "negative regulation of cellular metabolic process", "abnormal bone marrow cell morphology", - "Bone marrow hypocellularity", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", "Abnormality of bone marrow cell morphology", + "bone cell", + "polypeptide", "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type anatomical entity", + "Bone marrow hypocellularity", + "skeletal element", + "Abnormal cellular physiology", + "organic substance metabolic process", + "increased level of chemical entity", + "metabolic process", + "continuant", + "protein polypeptide chain", + "peptide", "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "chalcogen molecular entity", + "abnormal independent continuant alpha-fetoprotein level", + "abnormal independent continuant protein level", "abnormal role blood level", "Abnormality of metabolism/homeostasis", + "abnormal blood nitrogen molecular entity level", + "organ", + "occurrent", + "organism substance", + "bodily fluid", + "Abnormal platelet morphology", + "heteroorganic entity", + "alpha-fetoprotein", + "DNA metabolic process", + "carboxamide", + "increased level of alpha-fetoprotein", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "abnormal role independent continuant level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "p-block molecular entity", + "biomacromolecule", + "abnormal chemical entity level", + "Abnormal circulating alpha-fetoprotein concentration", "abnormal multicellular organism chemical entity level", + "entity", + "subdivision of skeletal system", "Abnormal circulating protein concentration", - "abnormal independent continuant alpha-fetoprotein level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal role independent continuant level", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "obsolete cell", + "head", + "amide", + "platelet", + "organooxygen compound", + "organochalcogen compound", + "abnormal programmed DNA elimination by chromosome breakage", + "cellular process", + "main group molecular entity", + "negative regulation of cellular biosynthetic process", ], }, { @@ -8143,10 +12780,10 @@ def autocomplete_response(): "has_phenotype": [ "HP:0040012", "HP:0000086", + "HP:0002984", "HP:0009777", "HP:0011835", "HP:0000252", - "HP:0002984", "HP:0001510", "HP:0003974", "HP:0001643", @@ -8156,10 +12793,10 @@ def autocomplete_response(): "has_phenotype_label": [ "Chromosome breakage", "Ectopic kidney", + "Hypoplasia of the radius", "Absent thumb", "Absent scaphoid", "Microcephaly", - "Hypoplasia of the radius", "Growth delay", "Absent radius", "Patent ductus arteriosus", @@ -8168,616 +12805,1182 @@ def autocomplete_response(): ], "has_phenotype_count": 11, "has_phenotype_closure": [ - "HP:0005914", - "HP:0010048", - "HP:0009659", - "HP:0009851", - "UPHENO:0080191", - "HP:0010026", - "HP:0010035", - "HP:0010009", - "UPHENO:0084458", + "UBERON:0015043", + "UBERON:0002374", + "UBERON:0003221", + "UBERON:0003821", + "UBERON:0012357", + "UBERON:0010546", + "HP:0009658", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5106048", + "UBERON:0010688", "HP:0005918", - "UPHENO:0026055", - "UPHENO:0080168", - "UPHENO:0081515", - "HP:0010242", + "HP:0009767", + "UPHENO:0084458", "UPHENO:0025593", "UPHENO:0076755", - "HP:0009802", - "UPHENO:0021800", - "HP:0009602", - "UPHENO:0081455", - "HP:0012638", - "UPHENO:0080555", - "UPHENO:0002433", - "UPHENO:0082875", - "UPHENO:0080556", - "HP:0012799", - "UPHENO:0078730", - "UPHENO:0081700", - "UPHENO:0081709", - "HP:0006824", + "UPHENO:0009400", + "HP:0010048", + "UBERON:5101463", + "UPHENO:0021840", + "HP:0005916", + "HP:0009834", + "UPHENO:0080164", + "UBERON:0002234", + "UBERON:0004302", + "UBERON:0009877", + "UBERON:0002544", + "UBERON:0005451", + "UPHENO:0081466", + "UBERON:0000467", + "UBERON:0001423", + "HP:0011603", + "UBERON:0003460", + "UPHENO:0001002", + "UBERON:0015061", + "UBERON:0003129", + "UBERON:0011582", + "UBERON:0004708", + "UBERON:0004572", + "UBERON:0012139", + "UPHENO:0012541", + "UBERON:0012150", + "GO:0090304", + "UBERON:0014395", + "UPHENO:0046540", + "UBERON:0000477", + "UPHENO:0080114", + "HP:0001167", + "HP:0040064", + "HP:0009810", + "UBERON:0003606", + "HP:0033127", + "UBERON:0001630", + "UPHENO:0081313", + "HP:0011842", + "UPHENO:0075696", + "HP:0006502", + "HP:0010035", + "UBERON:0000075", + "UPHENO:0069294", + "UPHENO:0080126", + "HP:0011844", + "GO:0009892", "UPHENO:0087369", - "HP:0010628", - "UPHENO:0026144", - "UPHENO:0076729", - "HP:0009825", - "HP:0001191", - "HP:0009121", - "HP:0033353", - "HP:0009823", - "UPHENO:0087334", - "HP:0002011", - "UPHENO:0001001", + "UBERON:0001033", + "UBERON:0004461", + "UBERON:0007272", + "UPHENO:0009338", + "UBERON:0004537", + "UPHENO:0076765", + "HP:0009822", + "UPHENO:0076727", + "UPHENO:0012274", + "UBERON:0002113", + "UBERON:0003645", + "HP:0011314", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "HP:0031910", + "UBERON:0001460", + "GO:0040007", + "UBERON:0015063", + "HP:0009826", + "UBERON:0010708", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0020584", - "HP:0002813", - "UPHENO:0080099", - "HP:0007364", - "UPHENO:0002964", - "UPHENO:0087349", + "UBERON:0007798", + "UBERON:0002091", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0002201", + "HP:0006824", + "UBERON:0010712", + "UBERON:0019231", + "UPHENO:0002844", + "HP:0006503", + "UPHENO:0086956", + "UBERON:0018254", + "RO:0002577", + "UBERON:0000073", + "UPHENO:0076724", "UPHENO:0081451", - "UPHENO:0081511", - "HP:0001155", - "HP:0005922", - "UPHENO:0004508", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0016527", - "UPHENO:0022529", - "UPHENO:0080173", - "UPHENO:0031839", + "UBERON:0003466", + "UPHENO:0026183", + "HP:0040070", + "UBERON:0008785", + "GO:0010558", + "GO:0048519", + "UBERON:0006058", + "UBERON:0010363", + "GO:0044237", + "HP:0010009", + "HP:0002977", + "UBERON:0001647", + "HP:0009824", + "UBERON:0010538", + "UBERON:0000061", + "GO:1901360", + "UPHENO:0026001", + "HP:0100547", + "UBERON:0005985", + "UPHENO:0075195", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0076703", + "HP:0003974", + "UPHENO:0081204", + "UBERON:0002102", + "UBERON:0004710", + "UPHENO:0084448", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0009341", + "UPHENO:0079872", + "UPHENO:0081091", + "UPHENO:0076710", "HP:0009601", + "UBERON:0003607", "HP:0100542", - "HP:0001507", - "UPHENO:0025945", - "UPHENO:0080114", + "UBERON:0000916", + "UBERON:0011249", + "UPHENO:0026028", + "UBERON:0002529", + "UBERON:0004905", + "UBERON:0001008", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0050021", + "UBERON:0034925", + "UPHENO:0050121", + "HP:0002984", + "GO:0031327", + "HP:0009821", + "UBERON:0010912", + "HP:0040072", + "GO:0010556", + "PR:000050567", + "HP:0009815", + "UPHENO:0033572", + "BFO:0000002", + "HP:0005914", + "HP:0012639", + "UPHENO:0049700", + "UBERON:0010544", + "HP:0005927", + "GO:0009890", + "UPHENO:0031839", + "GO:0006259", + "UBERON:0001474", + "UBERON:0001981", + "UPHENO:0082875", + "GO:0006139", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0049990", + "GO:0006807", "UPHENO:0006910", - "UPHENO:0084761", - "UPHENO:0081566", + "UPHENO:0049873", + "UBERON:0000153", + "UBERON:0009880", + "UPHENO:0002678", + "UPHENO:0025701", + "UBERON:5006048", + "GO:0005623", + "UBERON:0000955", + "UBERON:0010703", + "GO:0009987", + "GO:0071824", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0009659", + "UBERON:5002389", + "UPHENO:0087496", + "BFO:0000003", + "UBERON:0012358", + "CL:0000000", + "HP:0002818", + "HP:0002813", + "GO:0071840", + "UBERON:0004770", + "UBERON:0001015", + "UBERON:0000465", + "UBERON:0008229", + "UBERON:0010959", + "GO:0031052", + "GO:0031323", + "UBERON:0002513", + "UBERON:0011138", + "GO:0031324", + "UBERON:0002100", + "UPHENO:0002320", + "GO:0065007", + "HP:0002817", + "UPHENO:0001001", + "GO:0044238", + "GO:0010629", + "HP:0001626", + "GO:0071704", + "GO:0009889", + "UBERON:0017750", + "HP:0030680", + "GO:0006325", + "UBERON:0003103", + "HP:0000077", + "UPHENO:0002905", "HP:0003026", - "UPHENO:0011498", - "HP:0004243", - "UPHENO:0002696", - "UPHENO:0068971", - "UPHENO:0087309", - "UPHENO:0084763", - "UPHENO:0086633", + "UBERON:0005172", "UPHENO:0002803", "UPHENO:0002832", - "UPHENO:0008523", - "UPHENO:0087518", - "HP:0009380", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0087501", - "HP:0009658", - "HP:0000924", - "HP:0009834", - "UPHENO:0081435", - "UPHENO:0002830", - "UPHENO:0079870", - "UPHENO:0086700", - "UPHENO:0078606", - "HP:0000001", - "HP:0025354", - "HP:0009821", - "UPHENO:0002973", - "HP:0000301", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", + "UPHENO:0086633", + "UPHENO:0050845", "HP:0001939", - "HP:0010827", - "HP:0000271", - "HP:0003019", - "HP:0004231", - "UPHENO:0076727", - "UPHENO:0001003", - "UPHENO:0050121", - "HP:0040070", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0005116", - "UPHENO:0076779", - "UPHENO:0002816", - "UPHENO:0053580", - "UPHENO:0079876", - "UPHENO:0050116", - "UPHENO:0049367", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0021840", + "GO:0006996", + "GO:0046483", + "UPHENO:0084766", + "BFO:0000004", + "UBERON:0001434", + "HP:0006496", + "GO:0031326", + "UPHENO:0084763", + "UPHENO:0087309", + "UBERON:0004122", + "UPHENO:0080083", "HP:0010935", - "UPHENO:0001002", - "HP:0011297", - "UPHENO:0076723", - "UPHENO:0049748", - "HP:0011017", + "HP:0000301", + "UBERON:0010741", + "UBERON:0002101", + "HP:0000152", + "UBERON:0013701", + "GO:0050789", "HP:0000079", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", + "UPHENO:0026128", + "GO:0048523", + "UBERON:0004120", + "UPHENO:0076779", + "UBERON:5001463", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0001005", + "HP:0040195", + "HP:0000086", + "UBERON:0034713", + "HP:0000707", + "UPHENO:0049748", + "UBERON:0002075", + "GO:0031049", "UPHENO:0050113", + "GO:0060255", + "UPHENO:0076740", + "GO:0008150", + "UPHENO:0020888", + "UPHENO:0049367", + "UPHENO:0050116", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010314", "HP:0000929", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0002708", - "UPHENO:0084447", - "UPHENO:0002320", - "UPHENO:0050021", - "HP:0045060", - "HP:0001291", - "UPHENO:0053588", - "UPHENO:0081524", - "HP:0006496", - "UPHENO:0009400", - "BFO:0000001", - "UPHENO:0050845", - "UPHENO:0025701", - "BFO:0000020", - "UPHENO:0026028", - "PATO:0000001", - "HP:0000086", + "GO:0034641", + "GO:0008152", + "UPHENO:0087501", + "GO:0006725", + "UBERON:0001893", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0076767", + "UBERON:0011250", + "UBERON:0013700", + "GO:0019222", + "HP:0025354", + "GO:0050794", "HP:0003220", - "HP:0001367", - "UPHENO:0081755", - "UPHENO:0081466", - "HP:0040012", - "HP:0002973", - "UPHENO:0087496", - "UPHENO:0076724", - "UPHENO:0002678", - "UPHENO:0049873", - "HP:0001510", - "HP:0001172", - "HP:0030962", - "UPHENO:0002961", - "HP:0000118", - "HP:0011804", - "UPHENO:0026506", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0009399", - "UPHENO:0080325", - "UPHENO:0002642", - "HP:0001627", + "HP:0045060", + "UBERON:0012151", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0002470", "UPHENO:0081790", - "UPHENO:0087006", - "UPHENO:0076767", - "UPHENO:0002896", - "UPHENO:0076791", - "UPHENO:0086589", + "UBERON:0001577", + "UBERON:0011143", + "UPHENO:0053580", + "UPHENO:0002816", + "UBERON:0005173", + "UPHENO:0087427", + "UPHENO:0002332", + "UBERON:0010758", + "UBERON:8450002", + "UBERON:0000062", + "UBERON:0004765", + "UPHENO:0053588", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002417", + "UPHENO:0026144", + "UBERON:0005090", + "UBERON:0005178", + "UBERON:0001444", + "UPHENO:0018390", + "UPHENO:0068971", + "UPHENO:0008668", + "UPHENO:0079876", + "GO:0043170", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0001627", + "UPHENO:0002880", + "UBERON:0012475", + "BFO:0000001", + "HP:0010628", + "UBERON:0010000", + "UBERON:0004716", + "UBERON:0008962", + "UBERON:0001463", "HP:0012210", - "UPHENO:0049990", - "UPHENO:0075902", - "UPHENO:0080160", - "HP:0002060", - "UPHENO:0026181", - "HP:0005916", + "UBERON:0002204", + "UBERON:0002090", + "HP:0030319", + "UPHENO:0026506", + "HP:0009602", + "HP:0011804", + "HP:0009380", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0076723", + "NCBITaxon:131567", + "HP:0040068", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "UBERON:0001062", + "UBERON:0005881", + "UBERON:0015021", + "UBERON:0003509", + "UBERON:0004573", + "UBERON:0004381", + "UPHENO:0011498", + "UBERON:0004249", + "UBERON:0019221", + "UPHENO:0046538", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0013581", + "NCBITaxon:2759", + "HP:0005922", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0078606", "HP:0006265", - "HP:0006502", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0087089", - "UPHENO:0086635", - "HP:0033127", - "HP:0011805", + "UPHENO:0084761", + "UPHENO:0081455", + "HP:0011297", + "UPHENO:0046505", + "UBERON:0013768", "HP:0009777", + "HP:0011805", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0086700", + "UBERON:0005944", + "UBERON:0004452", + "HP:0001191", + "UBERON:0001427", + "UPHENO:0016527", + "HP:0001367", + "UBERON:0006716", + "UBERON:5102389", + "UPHENO:0075655", + "UBERON:0001480", "UPHENO:0026023", - "UPHENO:0076702", + "HP:0009823", + "HP:0004243", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0015078", + "UPHENO:0081524", + "UPHENO:0080173", + "UBERON:0000982", + "UPHENO:0002696", + "HP:0004231", + "HP:0003019", + "UPHENO:0020041", + "HP:0000271", + "HP:0010827", + "UPHENO:0002973", + "HP:0009825", "UPHENO:0009382", - "UPHENO:0087186", - "HP:0100547", - "UPHENO:0002880", - "UPHENO:0080362", + "UPHENO:0002961", + "HP:0030962", + "HP:0011835", + "UBERON:0000948", + "UPHENO:0015324", + "UBERON:0034921", + "GO:0010605", + "UBERON:0005897", + "UBERON:0015049", + "UBERON:0003656", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0007811", + "UPHENO:0087089", + "HP:0009121", + "HP:0000924", + "UBERON:0004121", + "UBERON:0000033", + "HP:0002060", + "UPHENO:0080160", + "HP:0009115", "UPHENO:0004523", - "HP:0001167", - "HP:0040064", - "HP:0009810", - "UPHENO:0001005", - "HP:0040195", - "HP:0009767", - "UPHENO:0075195", - "UPHENO:0002908", + "UPHENO:0080079", + "HP:0007364", + "UPHENO:0081521", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0076722", + "UBERON:0001017", + "UPHENO:0026181", + "UPHENO:0002964", "HP:0012443", - "HP:0002977", - "UPHENO:0002764", - "UPHENO:0076805", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "BFO:0000002", - "HP:0012639", - "UPHENO:0020888", - "UPHENO:0003587", + "UBERON:0002616", + "UBERON:0002049", + "UBERON:0001016", + "UBERON:5102544", + "UBERON:0004111", + "UBERON:0011137", "UPHENO:0075220", - "UPHENO:0076772", + "UBERON:0001890", + "UBERON:0015042", "UPHENO:0080200", - "UPHENO:0012274", - "HP:0011314", - "UPHENO:0081313", - "UPHENO:0087510", - "UPHENO:0087907", - "HP:0006501", - "HP:0009826", - "UPHENO:0009341", - "UPHENO:0046538", - "UPHENO:0081204", - "UPHENO:0026001", - "UPHENO:0081792", - "UPHENO:0080164", + "UPHENO:0076772", + "UPHENO:0002764", + "UPHENO:0076805", "HP:0000234", "UPHENO:0087018", - "HP:0006503", - "HP:0009815", - "UPHENO:0088186", - "UPHENO:0046505", - "HP:0040072", - "UPHENO:0081521", - "UPHENO:0002910", - "HP:0030319", - "UPHENO:0020041", - "UPHENO:0076710", - "UPHENO:0081091", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0069294", - "HP:0002818", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0005773", - "HP:0031910", + "NCBITaxon:33154", + "HP:0000252", + "HP:0011799", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0004508", + "UPHENO:0081566", + "NCBITaxon:1", + "UBERON:0000481", + "UBERON:0010543", + "HP:0001507", + "UBERON:0001436", + "GO:0010468", "UPHENO:0000541", + "UBERON:0001456", + "UPHENO:0049874", + "HP:0002597", + "PATO:0000001", + "HP:0000759", "UPHENO:0000543", + "HP:0001510", + "UBERON:0004473", "HP:0003953", - "UPHENO:0076718", - "UPHENO:0015290", - "UPHENO:0076703", - "HP:0003974", - "HP:0009822", - "HP:0001626", - "UPHENO:0033572", - "HP:0011835", - "UPHENO:0015324", - "UPHENO:0075655", - "UPHENO:0009338", - "UPHENO:0076765", + "UPHENO:0009399", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0001637", + "UPHENO:0015280", + "UPHENO:0075902", + "GO:0016043", + "UPHENO:0080168", + "HP:0000118", + "UBERON:0003834", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000055", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UBERON:0002386", + "UBERON:0001435", + "UBERON:0005440", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0011779", + "UBERON:0004145", + "UPHENO:0076729", + "UPHENO:0081435", + "UPHENO:0087186", + "UPHENO:0080362", "HP:0025015", - "UPHENO:0086797", - "HP:0011603", + "HP:0033353", + "UBERON:0001009", + "UBERON:0012140", + "UBERON:0004571", "HP:0001643", - "UPHENO:0033603", - "UPHENO:0076810", - "HP:0030680", + "NCBITaxon:6072", "UPHENO:0076776", - "HP:0001324", + "UPHENO:0086797", + "UBERON:0012141", + "UBERON:0003513", + "UBERON:0011695", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0003498", + "UBERON:0006876", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "UBERON:0018674", + "UBERON:0013630", + "UBERON:0034923", + "HP:0010242", + "UBERON:0007100", + "UPHENO:0002908", + "UPHENO:0003587", + "UBERON:0000383", + "UPHENO:0021800", + "UBERON:0001785", + "UBERON:0014892", + "UPHENO:0080555", "HP:0045010", - "HP:0003011", - "UPHENO:0080083", - "HP:0000252", - "HP:0011799", - "UPHENO:0049874", - "HP:0002597", - "HP:0000759", - "UPHENO:0087427", - "UPHENO:0002332", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0002471", + "UPHENO:0081755", + "UPHENO:0078730", + "UPHENO:0081709", + "UBERON:0000122", + "HP:0001324", "HP:0410008", - "HP:0000240", - "UPHENO:0076722", - ], - "has_phenotype_closure_label": [ - "abnormal metacarpal bone of digit 1 morphology", - "Aplasia of the 1st metacarpal", - "aplastic metacarpal bone of digit 1", - "Aplasia/Hypoplasia of the phalanges of the thumb", - "absent metacarpal bone in the metacarpus region", - "aplastic phalanx of manus", - "Aplasia/Hypoplasia of the 1st metacarpal", - "Aplasia of the proximal phalanges of the hand", - "abnormal phalanx morphology", - "Abnormal metacarpal morphology", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "absent metacarpal bone", - "Abnormality of thumb phalanx", - "Aplasia of metacarpal bones", - "aplasia or hypoplasia of metacarpal bone", - "aplasia or hypoplasia of phalanx of manus", - "Abnormality of the face", - "Abnormal peripheral nervous system morphology", - "Weakness of facial musculature", - "abnormal cranial nerve morphology", - "Abnormal skeletal muscle morphology", - "paralysed cranial nerve", - "absent carpal bone in the independent continuant", - "quality", - "abnormal skeletal joint morphology in the pectoral complex", - "Carpal bone aplasia", - "Abnormal joint morphology", - "Abnormal 1st metacarpal morphology", - "Aplasia/Hypoplasia involving the carpal bones", - "abnormal radiale", - "Abnormality of the urinary system", - "abnormal skeletal system", + "UPHENO:0002433", + "UPHENO:0088186", + "UBERON:0009878", + "UBERON:0005162", + "UBERON:0001021", + "UPHENO:0002910", + "UPHENO:0080556", + "UBERON:0015789", + "HP:0003011", + "UBERON:0011216", + "UPHENO:0079870", + "HP:0001291", + "HP:0012799", + "HP:0012638", + "UBERON:0004453", + "UBERON:0002376", + "UBERON:0000010", + "UPHENO:0026055", + "UPHENO:0081515", + "HP:0009851", + "HP:0010026", + "UPHENO:0080191", + "HP:0009802", + ], + "has_phenotype_closure_label": [ + "manual digit 1 phalanx endochondral element", + "manual digit 1 metacarpus endochondral element", + "metapodial skeleton", + "skeleton of digitopodium", + "abnormal phalanx of manus morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "Abnormality of thumb phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Abnormal proximal phalanx morphology of the hand", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of proximal phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "metapodium bone", + "digitopodium bone", + "skeleton of manual acropodium", + "metacarpal bone of digit 1", + "proximal phalanx of manus", "abnormal manual digit morphology in the independent continuant", - "Absent scaphoid", - "aplastic carpal bone", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal manual digit 1 morphology", - "paralysed anatomical entity", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Abnormal axial skeleton morphology", + "organism", + "Finger aplasia", + "cardiovascular system", + "abnormal manus morphology", + "pectoral appendage skeleton", + "segment of manus", + "protein-containing material entity", + "Aplasia/hypoplasia involving bones of the extremities", + "skeleton of limb", + "Aplasia involving forearm bones", + "paired limb/fin skeleton", + "system", + "decreased size of the anatomical entity in the independent continuant", + "limb long bone", + "zeugopodial skeleton", + "peripheral nervous system", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "paired limb/fin segment", + "bone element", + "pectoral complex", + "trunk region element", + "head", + "Aplasia involving bones of the upper limbs", + "arm bone", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "Abnormal skeletal morphology", + "forelimb endochondral element", + "primary metabolic process", + "skeletal system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "forelimb zeugopod bone hypoplasia", + "endochondral bone", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "abnormal upper urinary tract", + "Limb undergrowth", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "craniocervical region", + "forelimb bone", + "anatomical entity hypoplasia", "Aplasia/hypoplasia of the extremities", - "abnormal anatomical entity morphology in the manus", - "Short long bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormally localised kidney", - "abnormal metacarpal bone morphology", - "Abnormality of limb bone", - "absent anatomical entity in the skeletal system", + "decreased size of the radius bone", + "Abnormal cellular phenotype", "abnormal autopod region morphology", - "Absent thumb", - "Aplasia/Hypoplasia of the phalanges of the hand", - "aplastic anatomical entity", - "abnormal vasculature", - "Abnormal digit morphology", - "Abnormality of the musculoskeletal system", - "Aplasia/Hypoplasia of fingers", - "Abnormal finger morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "Abnormality of facial soft tissue", - "abnormal number of anatomical enitites of type anatomical entity", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal anatomical entity", + "skeleton", + "paired limb/fin", + "anatomical collection", + "All", + "Aplasia involving bones of the extremities", + "absent manual digit", + "abnormal phenotype by ontology source", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", "Abnormality of limb bone morphology", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", "Abnormality of limbs", - "abnormal skeletal joint morphology in the independent continuant", - "abnormal brain morphology", - "absent metacarpal bone in the independent continuant", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormal forebrain morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "Phenotypic abnormality", - "Aplasia/Hypoplasia of the thumb", - "phenotype", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood vessel", + "outflow tract", + "obsolete cellular aromatic compound metabolic process", + "abnormal facial muscle", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormal appendicular skeleton morphology", + "subdivision of organism along appendicular axis", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "facial nerve", + "limb", + "cell", + "Abnormality of the upper limb", + "radius endochondral element", + "manus", + "Upper limb undergrowth", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "abnormal size of anatomical entity", + "regulation of cellular process", + "digitopodium region", + "abnormal skeletal joint morphology in the pectoral complex", + "nucleobase-containing compound metabolic process", "absent digit", - "Absent forearm bone", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the metacarpus region", + "Abnormal morphology of the radius", + "abdomen element", + "obsolete nitrogen compound metabolic process", + "thoracic segment blood vessel", + "excretory system", + "circulatory system", + "zeugopod", + "skeletal element", + "renal system", + "Abnormal localization of kidney", + "biological_process", + "subdivision of skeletal system", + "entity", "abnormal nitrogen compound metabolic process", - "Abnormality of the hand", + "abdominal segment element", + "absent anatomical entity in the metacarpus region", + "Abnormal joint morphology", + "body proper", "abnormal peripheral nervous system", - "Aplasia/hypoplasia involving bones of the extremities", - "aplastic manual digit 1 phalanx", - "Abnormal muscle physiology", - "abnormal programmed DNA elimination by chromosome breakage", + "abnormal primary metabolic process", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "appendicular skeletal system", + "radiale", + "material anatomical entity", + "muscle structure", + "chromatin organization", "abnormal metabolic process", - "Abnormality of the skeletal system", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal kidney morphology", - "abnormality of cranial nerve physiology", - "abnormal appendicular skeleton morphology", - "abnormal renal system morphology", - "abnormal location of anatomical entity", - "abnormal forelimb morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Abnormal proximal phalanx morphology of the hand", - "Finger aplasia", - "continuant", - "abnormal craniocervical region morphology", - "abnormal limb", - "abnormal biological_process", - "absent radiale", - "abnormal peripheral nervous system morphology", - "Abnormal cranial nerve morphology", - "absent anatomical entity in the multicellular organism", - "Abnormality of metabolism/homeostasis", - "abnormal organelle organization", - "Abnormality of the musculature", + "thoracic segment organ", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "appendicular skeleton", + "upper limb segment", + "organ", + "abnormality of nervous system physiology", "abnormal digit", - "abnormal nerve", - "absent manual digit", - "abnormal phenotype by ontology source", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal limb morphology", - "abnormal primary metabolic process", - "abnormal coronary vessel morphology", + "cellular organisms", + "thoracic segment of trunk", + "Abnormality of the musculature", + "short bone", + "abnormal organelle organization", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "protein-containing complex organization", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "independent continuant", + "abnormal growth", + "abnormal cellular process", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormality of facial musculature", + "articulation", + "regional part of nervous system", + "abnormally localised anatomical entity", + "nucleic acid metabolic process", + "process", + "Congenital malformation of the great arteries", "bone element hypoplasia in independent continuant", "Unilateral facial palsy", - "Patent ductus arteriosus", - "abnormal carpal region", - "Abnormal upper limb bone morphology", - "agenesis of anatomical entity", - "Abnormality of the scaphoid", - "abnormal manus morphology", - "abnormal cellular process", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal forelimb zeugopod morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "cellular metabolic process", + "abnormal cranial nerve morphology", + "forelimb zeugopod", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "continuant", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "acropodial skeleton", + "Abnormal muscle physiology", + "Phenotypic abnormality", + "regulation of macromolecule metabolic process", + "abnormal cellular component organization", + "compound organ", + "Abnormality of the peripheral nervous system", + "mesoderm-derived structure", + "autopod bone", + "thoracic cavity element", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Aplasia of the proximal phalanges of the hand", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "abnormal anatomical entity topology in independent continuant", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "regulation of gene expression", + "quality", + "forelimb zeugopod skeleton", + "proximal mesopodial bone", + "regulation of cellular biosynthetic process", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal kidney morphology", + "abnormal carpal bone morphology", + "musculature of face", + "cellular component organization", + "manual digit 1 or 5", + "negative regulation of metabolic process", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "bone of appendage girdle complex", "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "abnormal proximal phalanx of manus morphology", + "regulation of biosynthetic process", + "forelimb skeleton", + "genitourinary system", + "abnormal limb", + "negative regulation of cellular process", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Abnormality of cardiovascular system morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "carpal region", + "limb skeleton subdivision", + "skull", + "biological regulation", + "abdominal segment of trunk", + "abnormally localised kidney", + "phenotype by ontology source", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "arm", + "protein-DNA complex organization", + "abnormal systemic artery morphology", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "decreased length of forelimb zeugopod bone", + "phalanx of manus", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "Abnormality of the kidney", + "paralysed anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "aplastic manual digit 1 phalanx", + "muscle organ", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "macromolecule metabolic process", + "vascular system", "Ectopic kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal carpal bone morphology", + "abnormal proximal phalanx of manus morphology", + "cavitated compound organ", + "abnormal brain morphology", + "acropodium region", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of the wrist", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "vasculature", "abnormal renal system", + "negative regulation of cellular biosynthetic process", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "regulation of biological process", + "arterial blood vessel", + "anatomical entity hypoplasia in independent continuant", + "skeletal musculature of head", + "anatomical system", + "appendage", + "root", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "abnormally localised anatomical entity in independent continuant", + "organ system subdivision", + "abnormal renal system morphology", + "aplastic carpal bone", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "appendage girdle complex", + "subdivision of head", + "trunk", + "skeletal musculature", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "anterior region of body", + "aplastic anatomical entity", + "subdivision of organism along main body axis", + "abnormal appendicular skeleton morphology", + "abnormality of cranial nerve physiology", + "limb endochondral element", + "Short forearm", + "delayed biological_process", + "Aplasia/Hypoplasia of the thumb", + "aplastic manual digit 1", + "manual digit", + "phalanx", + "vasculature of organ", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "abdomen", + "manual digit 1 plus metapodial segment", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "subdivision of trunk", + "Abnormal thumb morphology", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "Aplasia of metacarpal bones", + "abnormal face", + "Facial palsy", + "digit", + "abnormal skeletal system", + "digit 1 plus metapodial segment", "abnormal ductus arteriosus morphology", - "Upper limb undergrowth", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "Partial absence of thumb", - "decreased anatomical entity strength", - "abnormal forebrain morphology", - "Abnormal cranial nerve physiology", - "abnormal skull morphology", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormality of muscle organ physiology", - "abnormal upper urinary tract", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the wrist", - "Growth abnormality", - "Abnormal localization of kidney", - "absent anatomical entity", - "abnormally localised anatomical entity in independent continuant", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", - "abnormally localised anatomical entity", - "Abnormal blood vessel morphology", - "absent carpal bone in the limb", - "abnormal limb bone morphology", - "entity", + "manual digit plus metapodial segment", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "digit plus metapodial segment", + "aplastic metacarpal bone of digit 1", + "abnormal manus", "aplasia or hypoplasia of manual digit 1", - "decreased length of anatomical entity", - "Muscle weakness", - "Abnormal carpal morphology", + "absent metacarpal bone", + "absent anatomical entity", + "carpal skeleton", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "absent metacarpal bone in the independent continuant", + "autopodial skeleton", + "skeleton of manus", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of upper limb joint", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "abnormal carpal bone", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", + "negative regulation of biological process", + "articular system", + "multi organ part structure", + "abnormal carpal region", + "Patent ductus arteriosus", "aplasia or hypoplasia of carpal bone", "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "Aplasia/Hypoplasia involving the metacarpal bones", - "decreased size of the anatomical entity in the independent continuant", - "decreased muscle organ strength", - "Abnormality of skull size", - "abnormal head morphology", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", + "absent carpal bone in the independent continuant", + "Abnormality of the scaphoid", + "Carpal bone aplasia", + "absent radiale", + "systemic arterial system", "absent radius bone in the independent continuant", - "abnormal blood vessel morphology", - "abnormal incomplete closing of the anatomical entity", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of brain morphology", - "Abnormality of head or neck", + "proximal carpal bone", + "metacarpal bone", + "occurrent", + "absent carpal bone in the limb", + "Aplasia/Hypoplasia involving the carpal bones", + "skeletal joint", + "Absent scaphoid", + "digit 1", + "abnormal carpal bone", + "Abnormality of metabolism/homeostasis", "abnormal skeletal joint morphology", + "Abnormality of the urinary system", "Morphological central nervous system abnormality", - "Aplasia involving forearm bones", - "abnormal head", - "abnormal nervous system morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "aplasia or hypoplasia of manual digit 1 phalanx", - "abnormal long bone morphology", + "abnormal radiale", + "carpus endochondral element", + "Absent thumb", + "proximal mesopodial endochondral element", + "Abnormal carpal morphology", + "mesopodial skeleton", + "abnormal telencephalon morphology", + "bone of free limb or fin", + "mesopodium bone", + "negative regulation of gene expression", + "carpal bone", + "abnormal skeletal system morphology", + "proximal carpal endochondral element", + "abnormal head morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Short long bone", + "abnormal skull morphology", + "cranial neuron projection bundle", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "heart", + "organic substance metabolic process", "Abnormality of the head", + "abnormal limb morphology", + "anatomical conduit", + "autopod region", + "abnormal skeletal joint morphology in the independent continuant", + "Aplasia/Hypoplasia of the cerebrum", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "abnormal craniocervical region morphology", + "Abnormal skull morphology", + "abnormal metacarpal bone morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormality of skull size", + "decreased muscle organ strength", + "cranial skeletal system", + "Abnormality of head or neck", + "Aplasia/hypoplasia involving forearm bones", + "metapodium region", + "abnormal nervous system", + "abnormal musculature", + "Abnormality of limb bone", + "autopod endochondral element", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "regional part of brain", + "metacarpus skeleton", + "musculature", + "Growth abnormality", + "axial skeletal system", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "Limb undergrowth", - "decreased length of long bone", - "abnormal radius bone morphology", - "abnormal face", - "Aplasia/Hypoplasia of the radius", - "abnormal artery morphology in the independent continuant", - "anatomical entity hypoplasia in independent continuant", - "Abnormal heart morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Aplasia involving bones of the upper limbs", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "Abnormal cellular phenotype", - "decreased size of the radius bone", + "Abnormal hand morphology", + "Metazoa", + "heart vasculature", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "abnormal head", + "forelimb long bone", + "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "abnormal biological_process", + "kidney", + "Growth delay", + "lateral structure", + "vessel", + "delayed growth", + "abnormal cardiovascular system", "Absent radius", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", "absent radius bone in the forelimb", - "anatomical entity hypoplasia", - "absent radius bone", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the heart", - "abnormal opening of the anatomical entity", - "abnormal phalanx of manus morphology", - "abnormal cardiovascular system morphology", + "arterial system", + "blood vasculature", + "abnormal incomplete closing of the anatomical entity", + "abnormal great vessel of heart morphology", + "abnormal arm", "Abnormal vascular morphology", - "radius bone hypoplasia", - "aplastic forelimb zeugopod bone", - "Abnormality of the vasculature", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "abnormal heart morphology", - "abnormal vascular system morphology", - "delayed growth", - "abnormal cardiovascular system", - "Abnormal hand morphology", - "Abnormal morphology of the great vessels", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Aplasia of the phalanges of the hand", - "abnormal systemic artery morphology", - "Congenital malformation of the great arteries", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "abnormal great vessel of heart morphology", - "Facial palsy", - "aplasia or hypoplasia of proximal phalanx of manus", - "Abnormality of facial musculature", - "abnormal growth", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal nervous system physiology", + "Abnormal blood vessel morphology", + "artery", + "abnormal genitourinary system", + "abnormal vasculature", + "Abnormal forearm morphology", "abnormal artery morphology", "abnormality of anatomical entity physiology", + "abnormal cell", + "disconnected anatomical group", + "anatomical cluster", + "negative regulation of macromolecule biosynthetic process", + "abnormal vascular system morphology", + "Abnormal heart morphology", + "viscus", + "conceptus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "abnormal limb long bone morphology", + "heart blood vessel", + "great vessel of heart", + "trunk blood vessel", + "organism subdivision", + "embryonic cardiovascular system", + "metapodium bone 1", + "abnormal blood vessel morphology", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "abnormal cardiovascular system morphology", + "abnormal artery morphology in the independent continuant", + "abnormal incomplete closing of the ductus arteriosus", + "coronary vessel", + "musculature of body", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "aplasia or hypoplasia of metacarpal bone", + "mesopodium region", + "systemic artery", + "decreased anatomical entity strength", + "phenotype", + "nerve of head region", + "absent anatomical entity in the independent continuant", + "Muscle weakness", + "Abnormal upper limb bone morphology", + "Abnormal peripheral nervous system morphology", + "abnormal muscle organ morphology", + "abnormal nerve", + "multi-tissue structure", + "abnormal peripheral nervous system morphology", + "neuron projection bundle", + "Abnormal skeletal muscle morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "skeletal muscle organ, vertebrate", + "abnormal metacarpal bone of digit 1 morphology", + "paralysed cranial nerve", + "craniocervical region musculature", + "axial musculature", + "craniocervical muscle", + "Abnormal cranial nerve morphology", + "Abnormality of the face", + "Abnormality of the cardiovascular system", "Abnormality of the seventh cranial nerve", "Cranial nerve paralysis", - "abnormal cellular component organization", - "Abnormality of the peripheral nervous system", - "abnormal muscle organ morphology", + "multi cell part structure", + "circulatory organ", + "cranial nerve", + "abnormal phalanx morphology", + "Abnormal cranial nerve physiology", + "Abnormality of the hand", + "radius bone", + "manus bone", "abnormal facial nerve", - "abnormal nervous system", - "abnormal musculature", - "Aplasia/hypoplasia involving forearm bones", - "abnormal facial muscle", + "facial muscle", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "Abnormal nervous system physiology", + "main body axis", + "gustatory system", + "cranial muscle", + "cranial or facial muscle", + "Hypoplasia of the radius", + "metacarpus region", + "decreased size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "aplasia or hypoplasia of phalanx of manus", + "abnormal anatomical entity morphology in the manus", + "proximal phalanx", ], }, ], diff --git a/backend/tests/fixtures/entity.py b/backend/tests/fixtures/entity.py index 1fa9486e3..a939df8b2 100644 --- a/backend/tests/fixtures/entity.py +++ b/backend/tests/fixtures/entity.py @@ -21,6 +21,7 @@ def entity(): "Orphanet:98473", "SCTID:73297009", "UMLS:C0026850", + "icd11.foundation:1464662404", ], "provided_by": "phenio_nodes", "in_taxon": None, diff --git a/backend/tests/fixtures/entity_response.py b/backend/tests/fixtures/entity_response.py index 5f71ff999..880a7ed6d 100644 --- a/backend/tests/fixtures/entity_response.py +++ b/backend/tests/fixtures/entity_response.py @@ -19,6 +19,7 @@ def entity_response(): "Orphanet:98473", "SCTID:73297009", "UMLS:C0026850", + "icd11.foundation:1464662404", ], "provided_by": "phenio_nodes", "namespace": "MONDO", diff --git a/backend/tests/fixtures/histopheno.py b/backend/tests/fixtures/histopheno.py index 29853cd67..da91bd41c 100644 --- a/backend/tests/fixtures/histopheno.py +++ b/backend/tests/fixtures/histopheno.py @@ -6,18 +6,18 @@ def histopheno(): return { "id": "MONDO:0020121", "items": [ - {"label": "musculature", "count": 1677, "id": "UPHENO:0002816"}, - {"label": "nervous_system", "count": 1071, "id": "UPHENO:0004523"}, - {"label": "head_neck", "count": 577, "id": "UPHENO:0002764"}, - {"label": "skeletal_system", "count": 471, "id": "UPHENO:0002964"}, - {"label": "eye", "count": 287, "id": "UPHENO:0003020"}, - {"label": "metabolism_homeostasis", "count": 213, "id": "HP:0001939"}, - {"label": "cardiovascular_system", "count": 177, "id": "UPHENO:0080362"}, - {"label": "blood", "count": 175, "id": "UPHENO:0004459"}, - {"label": "connective_tissue", "count": 161, "id": "UPHENO:0002712"}, - {"label": "respiratory", "count": 150, "id": "UPHENO:0004536"}, - {"label": "neoplasm", "count": 148, "id": "HP:0002664"}, - {"label": "digestive_system", "count": 142, "id": "UPHENO:0002833"}, + {"label": "musculature", "count": 1709, "id": "UPHENO:0002816"}, + {"label": "nervous_system", "count": 1088, "id": "UPHENO:0004523"}, + {"label": "head_neck", "count": 584, "id": "UPHENO:0002764"}, + {"label": "skeletal_system", "count": 472, "id": "UPHENO:0002964"}, + {"label": "eye", "count": 291, "id": "UPHENO:0003020"}, + {"label": "metabolism_homeostasis", "count": 221, "id": "HP:0001939"}, + {"label": "cardiovascular_system", "count": 181, "id": "UPHENO:0080362"}, + {"label": "blood", "count": 178, "id": "UPHENO:0004459"}, + {"label": "connective_tissue", "count": 162, "id": "UPHENO:0002712"}, + {"label": "respiratory", "count": 155, "id": "UPHENO:0004536"}, + {"label": "neoplasm", "count": 153, "id": "HP:0002664"}, + {"label": "digestive_system", "count": 147, "id": "UPHENO:0002833"}, {"label": "integument", "count": 47, "id": "UPHENO:0002635"}, {"label": "genitourinary_system", "count": 44, "id": "UPHENO:0002642"}, {"label": "growth", "count": 32, "id": "UPHENO:0049874"}, diff --git a/backend/tests/fixtures/histopheno_response.py b/backend/tests/fixtures/histopheno_response.py index 945bae359..8d25e96d9 100644 --- a/backend/tests/fixtures/histopheno_response.py +++ b/backend/tests/fixtures/histopheno_response.py @@ -40,27 +40,27 @@ def histopheno_response(): "facet": "true", }, }, - "response": {"num_found": 4349, "start": 0, "docs": []}, + "response": {"num_found": 4426, "start": 0, "docs": []}, "facet_counts": { "facet_fields": {}, "facet_queries": { - 'object_closure:"UPHENO:0002964"': 471, - 'object_closure:"UPHENO:0004523"': 1071, - 'object_closure:"UPHENO:0002764"': 577, + 'object_closure:"UPHENO:0002964"': 472, + 'object_closure:"UPHENO:0004523"': 1088, + 'object_closure:"UPHENO:0002764"': 584, 'object_closure:"UPHENO:0002635"': 47, - 'object_closure:"UPHENO:0003020"': 287, - 'object_closure:"UPHENO:0080362"': 177, - 'object_closure:"HP:0001939"': 213, + 'object_closure:"UPHENO:0003020"': 291, + 'object_closure:"UPHENO:0080362"': 181, + 'object_closure:"HP:0001939"': 221, 'object_closure:"UPHENO:0002642"': 44, - 'object_closure:"UPHENO:0002833"': 142, - 'object_closure:"HP:0002664"': 148, - 'object_closure:"UPHENO:0004459"': 175, + 'object_closure:"UPHENO:0002833"': 147, + 'object_closure:"HP:0002664"': 153, + 'object_closure:"UPHENO:0004459"': 178, 'object_closure:"UPHENO:0002948"': 22, 'object_closure:"UPHENO:0003116"': 25, - 'object_closure:"UPHENO:0002816"': 1677, - 'object_closure:"UPHENO:0004536"': 150, + 'object_closure:"UPHENO:0002816"': 1709, + 'object_closure:"UPHENO:0004536"': 155, 'object_closure:"HP:0000598"': 28, - 'object_closure:"UPHENO:0002712"': 161, + 'object_closure:"UPHENO:0002712"': 162, 'object_closure:"UPHENO:0075949"': 21, 'object_closure:"UPHENO:0049874"': 32, 'object_closure:"UPHENO:0003013"': 1, diff --git a/backend/tests/fixtures/mapping_response.py b/backend/tests/fixtures/mapping_response.py index c9a86c93a..e551449cb 100644 --- a/backend/tests/fixtures/mapping_response.py +++ b/backend/tests/fixtures/mapping_response.py @@ -29,7 +29,7 @@ def mapping_response(): "object_id": "DOID:9884", "object_label": "muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "99bc2073-c3e6-4847-8a65-a048c1479522", + "id": "328e6469-38b6-4164-8600-c65db822aa33", }, { "subject_id": "MONDO:0020121", @@ -38,7 +38,7 @@ def mapping_response(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "7336a5b8-7020-4093-a545-9c51c297b3e0", + "id": "1acd8071-6f45-40eb-89f8-ae02ecfb407d", }, { "subject_id": "MONDO:0020121", @@ -47,7 +47,7 @@ def mapping_response(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "90d2f90f-e88e-472b-9420-bdae949b0af1", + "id": "8d184275-be2d-4347-b251-cfcd67b1904d", }, { "subject_id": "MONDO:0020121", @@ -56,7 +56,7 @@ def mapping_response(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "8f59f1f9-6c11-4697-95a1-8e63f6f7e650", + "id": "31e70259-6046-41db-9465-6ec758611296", }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "SCTID:73297009", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "05f95761-5d65-44ae-8dde-1096e1db19f8", + "id": "07812dec-5dea-454e-8f4d-4384c41016ee", }, { "subject_id": "MONDO:0020121", @@ -72,7 +72,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "UMLS:C0026850", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "20c55f80-e87d-4a95-99e5-c5128446fd63", + "id": "d6a3af5c-fa42-45db-9bc9-874a3ea155ee", }, { "subject_id": "MONDO:0020121", @@ -80,7 +80,7 @@ def mapping_response(): "predicate_id": "skos:exactMatch", "object_id": "MESH:D009136", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "08b5cc3f-7aae-4849-a42b-481e832722fe", + "id": "5dcc14e6-0a43-4d02-acb9-e0b78a2e72d4", }, ], }, diff --git a/backend/tests/fixtures/mappings.py b/backend/tests/fixtures/mappings.py index 14bc63a61..101c53f92 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": "99bc2073-c3e6-4847-8a65-a048c1479522", + "id": "328e6469-38b6-4164-8600-c65db822aa33", }, { "subject_id": "MONDO:0020121", @@ -24,7 +24,7 @@ def mappings(): "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "7336a5b8-7020-4093-a545-9c51c297b3e0", + "id": "1acd8071-6f45-40eb-89f8-ae02ecfb407d", }, { "subject_id": "MONDO:0020121", @@ -33,7 +33,7 @@ def mappings(): "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "90d2f90f-e88e-472b-9420-bdae949b0af1", + "id": "8d184275-be2d-4347-b251-cfcd67b1904d", }, { "subject_id": "MONDO:0020121", @@ -42,7 +42,7 @@ def mappings(): "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "8f59f1f9-6c11-4697-95a1-8e63f6f7e650", + "id": "31e70259-6046-41db-9465-6ec758611296", }, { "subject_id": "MONDO:0020121", @@ -51,7 +51,7 @@ def mappings(): "object_id": "SCTID:73297009", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "05f95761-5d65-44ae-8dde-1096e1db19f8", + "id": "07812dec-5dea-454e-8f4d-4384c41016ee", }, { "subject_id": "MONDO:0020121", @@ -60,7 +60,7 @@ def mappings(): "object_id": "UMLS:C0026850", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "20c55f80-e87d-4a95-99e5-c5128446fd63", + "id": "d6a3af5c-fa42-45db-9bc9-874a3ea155ee", }, { "subject_id": "MONDO:0020121", @@ -69,7 +69,7 @@ def mappings(): "object_id": "MESH:D009136", "object_label": None, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "08b5cc3f-7aae-4849-a42b-481e832722fe", + "id": "5dcc14e6-0a43-4d02-acb9-e0b78a2e72d4", }, ], } diff --git a/backend/tests/fixtures/node.py b/backend/tests/fixtures/node.py index e585286b3..13a2a55f7 100644 --- a/backend/tests/fixtures/node.py +++ b/backend/tests/fixtures/node.py @@ -21,6 +21,7 @@ def node(): "Orphanet:98473", "SCTID:73297009", "UMLS:C0026850", + "icd11.foundation:1464662404", ], "provided_by": "phenio_nodes", "in_taxon": None, @@ -58,15 +59,16 @@ def node(): {"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}, ], "provided_by_link": { "id": "phenio", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#", }, "association_counts": [ - {"label": "Phenotypes", "count": 3859, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, - {"label": "Causal Genes", "count": 119, "category": "biolink:CausalGeneToDiseaseAssociation"}, - {"label": "Correlated Genes", "count": 139, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, + {"label": "Phenotypes", "count": 3932, "category": "biolink:DiseaseToPhenotypicFeatureAssociation"}, + {"label": "Causal Genes", "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation"}, + {"label": "Correlated Genes", "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation"}, ], "node_hierarchy": { "super_classes": [ @@ -139,9 +141,9 @@ def node(): ], "sub_classes": [ { - "id": "MONDO:0008028", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "Becker muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -161,9 +163,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010311", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, cardiac type", "full_name": None, "deprecated": None, "description": None, @@ -183,9 +185,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010675", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": None, "deprecated": None, "description": None, @@ -205,9 +207,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010676", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "muscular dystrophy, Mabry type", "full_name": None, "deprecated": None, "description": None, @@ -227,9 +229,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010677", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": None, "deprecated": None, "description": None, @@ -249,9 +251,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010678", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "Duchenne muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -271,9 +273,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0010679", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "progressive muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -293,9 +295,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0016106", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "distal myopathy", "full_name": None, "deprecated": None, "description": None, @@ -337,9 +339,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0018949", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": None, "deprecated": None, "description": None, @@ -359,9 +361,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0023204", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "LAMA2-related muscular dystrophy", "full_name": None, "deprecated": None, "description": None, @@ -381,9 +383,9 @@ def node(): "has_phenotype_count": None, }, { - "id": "MONDO:0100228", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "muscular dystrophy, Barnes type", "full_name": None, "deprecated": None, "description": None, diff --git a/backend/tests/fixtures/object_formatted.py b/backend/tests/fixtures/object_formatted.py index 8a5581405..9b17b4665 100644 --- a/backend/tests/fixtures/object_formatted.py +++ b/backend/tests/fixtures/object_formatted.py @@ -21,7 +21,8 @@ def node_json(): "NCIT:C84910", "Orphanet:98473", "SCTID:73297009", - "UMLS:C0026850" + "UMLS:C0026850", + "icd11.foundation:1464662404" ], "provided_by": "phenio_nodes", "in_taxon": null, @@ -109,6 +110,10 @@ def node_json(): { "id": "UMLS:C0026850", "url": "http://identifiers.org/umls/C0026850" + }, + { + "id": "icd11.foundation:1464662404", + "url": null } ], "provided_by_link": { @@ -118,17 +123,17 @@ def node_json(): "association_counts": [ { "label": "Phenotypes", - "count": 3859, + "count": 3932, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { "label": "Causal Genes", - "count": 119, + "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation" }, { "label": "Correlated Genes", - "count": 139, + "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation" } ], @@ -203,9 +208,9 @@ def node_json(): ], "sub_classes": [ { - "id": "MONDO:0008028", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -225,9 +230,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010311", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, @@ -247,9 +252,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010675", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, @@ -269,9 +274,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, @@ -291,9 +296,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, @@ -313,9 +318,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -335,9 +340,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "progressive muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -357,9 +362,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0016106", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "distal myopathy", "full_name": null, "deprecated": null, "description": null, @@ -401,9 +406,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": null, "deprecated": null, "description": null, @@ -423,9 +428,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0023204", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "LAMA2-related muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -445,9 +450,9 @@ def node_json(): "has_phenotype_count": null }, { - "id": "MONDO:0100228", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "muscular dystrophy, Barnes type", "full_name": null, "deprecated": null, "description": null, @@ -476,7 +481,7 @@ 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', 'MESH:D009136', 'MedDRA:10028356', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850'] phenio_nodes None None None [] http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO [] [] [] [] 0 None [] [] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'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': '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': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'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': 'phenio', 'url': 'https://monarch-initiative.github.io/monarch-ingest/Sources/phenio/#'} [{'label': 'Phenotypes', 'count': 3859, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Genes', 'count': 119, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Genes', 'count': 139, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], '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': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], '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', 'MESH:D009136', 'MedDRA:10028356', 'NCIT:C84910', 'Orphanet:98473', 'SCTID:73297009', 'UMLS:C0026850', 'icd11.foundation:1464662404'] phenio_nodes None None None [] http://purl.obolibrary.org/obo/MONDO_0020121 None MONDO [] [] [] [] 0 None [] [] [{'id': 'DOID:9884', 'url': 'http://purl.obolibrary.org/obo/DOID_9884'}, {'id': 'ICD10CM:G71.0', 'url': 'https://icd.codes/icd10cm/G71.0'}, {'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': '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': 'MESH:D009136', 'url': 'http://identifiers.org/mesh/D009136'}, {'id': 'MedDRA:10028356', 'url': None}, {'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': 'Phenotypes', 'count': 3932, 'category': 'biolink:DiseaseToPhenotypicFeatureAssociation'}, {'label': 'Causal Genes', 'count': 126, 'category': 'biolink:CausalGeneToDiseaseAssociation'}, {'label': 'Correlated Genes', 'count': 146, 'category': 'biolink:CorrelatedGeneToDiseaseAssociation'}] {'super_classes': [{'id': 'MONDO:0100546', 'category': 'biolink:Disease', 'name': 'hereditary neuromuscular disease', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0700223', 'category': 'biolink:Disease', 'name': 'hereditary skeletal muscle disorder', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0005336', 'category': 'biolink:Disease', 'name': 'myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}], 'sub_classes': [{'id': 'MONDO:0010311', 'category': 'biolink:Disease', 'name': 'Becker muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010675', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, cardiac type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010676', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Hemizygous lethal type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010677', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Mabry type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010678', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, progressive Pectorodorsal', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0010679', 'category': 'biolink:Disease', 'name': 'Duchenne muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0016106', 'category': 'biolink:Disease', 'name': 'progressive muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0018949', 'category': 'biolink:Disease', 'name': 'distal myopathy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0019950', 'category': 'biolink:Disease', 'name': 'congenital muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0023204', 'category': 'biolink:Disease', 'name': 'Fukuda-Miyanomae-Nakata syndrome', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0100228', 'category': 'biolink:Disease', 'name': 'LAMA2-related muscular dystrophy', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}, {'id': 'MONDO:0008028', 'category': 'biolink:Disease', 'name': 'muscular dystrophy, Barnes type', 'full_name': None, 'deprecated': None, 'description': None, 'xref': [], 'provided_by': None, 'in_taxon': None, 'in_taxon_label': None, 'symbol': None, 'synonym': [], 'uri': None, 'iri': None, 'namespace': None, 'has_phenotype': [], 'has_phenotype_label': [], 'has_phenotype_closure': [], 'has_phenotype_closure_label': [], 'has_phenotype_count': None}]} """ @@ -485,13 +490,13 @@ def node_yaml(): return """ association_counts: - category: biolink:DiseaseToPhenotypicFeatureAssociation - count: 3859 + count: 3932 label: Phenotypes - category: biolink:CausalGeneToDiseaseAssociation - count: 119 + count: 126 label: Causal Genes - category: biolink:CorrelatedGeneToDiseaseAssociation - count: 139 + count: 146 label: Correlated Genes category: biolink:Disease causal_gene: [] @@ -531,6 +536,8 @@ def node_yaml(): url: http://identifiers.org/snomedct/73297009 - id: UMLS:C0026850 url: http://identifiers.org/umls/C0026850 +- id: icd11.foundation:1464662404 + url: null full_name: null has_phenotype: [] has_phenotype_closure: [] @@ -570,11 +577,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0008028 + id: MONDO:0010311 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Barnes type + name: Becker muscular dystrophy namespace: null provided_by: null symbol: null @@ -590,11 +597,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010311 + id: MONDO:0010675 in_taxon: null in_taxon_label: null iri: null - name: Becker muscular dystrophy + name: muscular dystrophy, cardiac type namespace: null provided_by: null symbol: null @@ -610,11 +617,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010675 + id: MONDO:0010676 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, cardiac type + name: muscular dystrophy, Hemizygous lethal type namespace: null provided_by: null symbol: null @@ -630,11 +637,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010676 + id: MONDO:0010677 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Hemizygous lethal type + name: muscular dystrophy, Mabry type namespace: null provided_by: null symbol: null @@ -650,11 +657,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010677 + id: MONDO:0010678 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, Mabry type + name: muscular dystrophy, progressive Pectorodorsal namespace: null provided_by: null symbol: null @@ -670,11 +677,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010678 + id: MONDO:0010679 in_taxon: null in_taxon_label: null iri: null - name: muscular dystrophy, progressive Pectorodorsal + name: Duchenne muscular dystrophy namespace: null provided_by: null symbol: null @@ -690,11 +697,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0010679 + id: MONDO:0016106 in_taxon: null in_taxon_label: null iri: null - name: Duchenne muscular dystrophy + name: progressive muscular dystrophy namespace: null provided_by: null symbol: null @@ -710,11 +717,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0016106 + id: MONDO:0018949 in_taxon: null in_taxon_label: null iri: null - name: progressive muscular dystrophy + name: distal myopathy namespace: null provided_by: null symbol: null @@ -750,11 +757,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0018949 + id: MONDO:0023204 in_taxon: null in_taxon_label: null iri: null - name: distal myopathy + name: Fukuda-Miyanomae-Nakata syndrome namespace: null provided_by: null symbol: null @@ -770,11 +777,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0023204 + id: MONDO:0100228 in_taxon: null in_taxon_label: null iri: null - name: Fukuda-Miyanomae-Nakata syndrome + name: LAMA2-related muscular dystrophy namespace: null provided_by: null symbol: null @@ -790,11 +797,11 @@ def node_yaml(): has_phenotype_closure_label: [] has_phenotype_count: null has_phenotype_label: [] - id: MONDO:0100228 + id: MONDO:0008028 in_taxon: null in_taxon_label: null iri: null - name: LAMA2-related muscular dystrophy + name: muscular dystrophy, Barnes type namespace: null provided_by: null symbol: null @@ -880,5 +887,6 @@ def node_yaml(): - Orphanet:98473 - SCTID:73297009 - UMLS:C0026850 +- icd11.foundation:1464662404 """ diff --git a/backend/tests/fixtures/search.py b/backend/tests/fixtures/search.py index 143a69cbf..af0869257 100644 --- a/backend/tests/fixtures/search.py +++ b/backend/tests/fixtures/search.py @@ -49,6 +49,7 @@ def search(): "HP:0000582", "HP:0010469", "HP:0000377", + "HP:0002863", "HP:0002575", "HP:0000483", "HP:0000238", @@ -69,14 +70,13 @@ def search(): "HP:0002650", "HP:0000252", "HP:0001882", - "HP:0002863", + "HP:0001510", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", @@ -157,6 +157,7 @@ def search(): "Upslanted palpebral fissure", "Absent testis", "Abnormal pinna morphology", + "Myelodysplasia", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", @@ -177,14 +178,13 @@ def search(): "Scoliosis", "Microcephaly", "Leukopenia", - "Myelodysplasia", + "Growth delay", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", @@ -262,2163 +262,3593 @@ def search(): "Abnormality of skin pigmentation", ], "has_phenotype_closure": [ - "HP:0001053", - "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0042775", - "UPHENO:0077885", - "UPHENO:0086173", + "HP:0001010", + "UPHENO:0085344", + "CL:0000233", + "CL:0000457", + "UPHENO:0085189", "UPHENO:0086049", - "UPHENO:0085070", + "CL:0000458", + "HP:0001873", "UPHENO:0084987", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0001939", + "UPHENO:0086173", + "HP:0011875", + "UPHENO:0085070", "HP:0003220", + "GO:0008152", + "HP:0001939", + "HP:0000002", + "UPHENO:0075159", "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085118", - "HP:0005522", - "HP:0020047", + "CL:0000329", + "UPHENO:0088170", + "UPHENO:0084928", + "CL:0000232", + "GO:0048872", + "HP:0001877", + "HP:0010972", "UPHENO:0088162", + "GO:0030218", "HP:0025461", - "HP:0001877", - "UPHENO:0085068", - "UPHENO:0087510", + "CL:0000764", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "GO:0042592", + "GO:0002376", + "GO:0009987", + "HP:0020047", + "UBERON:0015001", + "HP:0002818", + "UPHENO:0080187", + "UPHENO:0075198", "HP:0012745", - "UPHENO:0046753", - "HP:0010978", - "HP:0032101", - "UPHENO:0053580", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UBERON:0036295", + "UBERON:0006555", "UPHENO:0002806", "HP:0025633", + "UBERON:0000056", + "HP:0000083", + "UPHENO:0002442", "HP:0012211", - "UPHENO:0086128", "UPHENO:0002411", - "HP:0008373", + "UPHENO:0086132", + "HP:0000135", "HP:5201015", - "HP:0000202", - "HP:0000175", - "UPHENO:0033635", + "UPHENO:0081423", "UPHENO:0034110", - "HP:0000218", - "UPHENO:0001208", + "UPHENO:0063513", "HP:0000268", - "UPHENO:0075148", - "HP:0000069", - "UPHENO:0002442", - "UPHENO:0087307", + "UPHENO:0001208", + "UBERON:0013766", + "UBERON:1000021", + "UPHENO:0072402", "UPHENO:0087928", + "UBERON:0001084", "UPHENO:0087058", - "HP:0000286", + "HP:0000324", "UPHENO:0084734", - "UPHENO:0084729", - "UPHENO:0041151", + "HP:0001999", + "UPHENO:0076704", + "HP:0001263", + "UPHENO:0005982", "UPHENO:0041083", - "UPHENO:0066972", + "UPHENO:0041084", + "UPHENO:0069249", + "UPHENO:0081141", + "UBERON:0004768", "UPHENO:0083646", - "HP:0034261", - "HP:0002692", - "HP:0009118", - "HP:0011821", + "UPHENO:0081314", + "CL:0000081", + "UBERON:0012360", + "UBERON:0001708", + "UBERON:0003278", + "UBERON:0011156", + "UBERON:0001684", + "HP:0000347", + "HP:0009116", + "HP:0004322", "HP:0030791", - "HP:0009122", + "HP:0011873", "UPHENO:0081788", + "UPHENO:0081786", + "HP:0000277", "UPHENO:0088116", - "UPHENO:0081141", - "UPHENO:0050625", - "HP:0000365", - "UPHENO:0052970", - "HP:0000028", - "UPHENO:0052231", + "UPHENO:0080087", + "UBERON:0001710", + "UPHENO:0084457", + "HP:0000286", + "HP:0009118", + "HP:0009122", + "GO:0050954", "UPHENO:0005518", + "UPHENO:0052970", + "HP:0000365", "HP:0000486", "HP:0000549", - "HP:0000504", + "GO:0034101", + "UPHENO:0050622", "UPHENO:0050236", + "GO:0050953", + "UPHENO:0052164", + "UPHENO:0085881", "HP:0000520", + "HP:0000568", "HP:0100887", "UPHENO:0075219", - "HP:0000496", + "HP:0000359", + "HP:0011821", + "HP:0012547", + "HP:0031704", + "UPHENO:0003044", "UPHENO:0079837", - "HP:0001751", - "UPHENO:0078736", - "HP:0040194", + "UPHENO:0066972", + "UPHENO:0080581", + "UPHENO:0002240", "UPHENO:0080602", "HP:0007670", - "HP:0011389", - "UPHENO:0002240", - "HP:0012547", - "UPHENO:0005170", - "UPHENO:0041395", + "HP:0000496", + "UPHENO:0079828", + "HP:0002719", + "UPHENO:0076766", + 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"HP:0000864", - "UPHENO:0004523", - "HP:0009115", + "UPHENO:0084767", + "UBERON:0005172", + "UPHENO:0002803", + "UPHENO:0002844", "UPHENO:0075995", + "UBERON:0004092", + "UBERON:0008785", + "UBERON:0000015", + "BFO:0000141", + "UBERON:0000483", + "UBERON:0000466", + "UPHENO:0079876", + "UPHENO:0072194", + "UBERON:0011215", + "HP:0006503", + "GO:0048856", + "UPHENO:0088186", + "UBERON:0005162", + "UPHENO:0087601", + "UPHENO:0052675", + "HP:0000316", + "UBERON:0006800", "UPHENO:0049367", - "UPHENO:0082835", - "UPHENO:0078347", "UPHENO:0055730", - "UPHENO:0076723", - "HP:0025028", + "HP:0002060", + "GO:0072175", + "UPHENO:0042834", + "UPHENO:0072195", + "HP:0002814", + "UPHENO:0041395", + "UBERON:0007811", + "UBERON:0000922", + "HP:0031826", + "UPHENO:0081603", + "UBERON:5006052", + "HP:0000080", + "UBERON:0001008", "UPHENO:0075852", - "HP:0011446", + "HP:0001249", + "UBERON:0000479", + "UPHENO:0085068", + "HP:0025028", "HP:0001197", - "HP:0002827", + "UPHENO:0075949", "HP:0001562", - "UPHENO:0000543", - "UPHENO:0087427", - "UPHENO:0002808", + "NBO:0000313", + "HP:0002827", + "UBERON:0000323", + "HP:0001159", + "UBERON:0000173", + "UPHENO:0052231", + "UPHENO:0081594", + "UPHENO:0020809", + "UBERON:0002108", "UPHENO:0076783", - "HP:0011004", - "HP:0002242", - "HP:0010461", - "UPHENO:0086621", - "HP:0001924", - "UPHENO:0086628", - "UPHENO:0076806", - "UPHENO:0076957", + "UPHENO:0002808", + "UPHENO:0087427", + "HP:0002246", + "UPHENO:0015324", + "UBERON:0004288", + "HP:0009815", + "UPHENO:0033572", + "NCBITaxon:1", + "UPHENO:0021474", + "UPHENO:0087597", + "UBERON:0002114", + "UPHENO:0082444", + "HP:0001824", + "UBERON:0004709", + "UPHENO:0081755", + "UBERON:0002103", + "UBERON:0003462", + "NBO:0000411", + "HP:0000163", + "UBERON:0005291", "HP:0011297", - "UPHENO:0086614", - "UPHENO:0050008", - "HP:0006496", - "UPHENO:0003070", + "UBERON:0004248", + "GO:0043473", + "HP:0010674", + "HP:0001217", + "UPHENO:0078125", + "CL:0000763", + "UPHENO:0049586", + "UBERON:0010742", + "HP:0004349", + "HP:0040068", + "UBERON:0002470", + "UBERON:0012139", + "UPHENO:0002964", "UPHENO:0088140", + "UBERON:0006314", "UPHENO:0041821", - "UPHENO:0066927", - "UPHENO:0078125", - "HP:0001217", - "UPHENO:0072195", - "HP:0002814", - "HP:0000010", - "UPHENO:0084654", - "UPHENO:0002905", - "HP:0000077", + "UBERON:0012142", + "UBERON:0010758", + "UBERON:0001890", + "UPHENO:0081091", "HP:0100760", + "UBERON:0000154", + "HP:0031653", + "UBERON:0004122", + "HP:0009826", + "UPHENO:0033616", + "HP:0001384", + "UBERON:0001769", + "UBERON:5002544", + "HP:0040072", + "UBERON:0004053", + "UBERON:0001441", + "UBERON:0005440", + "HP:0001882", + "UPHENO:0002905", + "UPHENO:0084654", + "UBERON:0010709", "UPHENO:0087369", + "UPHENO:0078375", + "UBERON:0010696", + "NBO:0000444", + "UPHENO:0081344", + "UBERON:0000063", + "HP:0008056", + "UBERON:0007273", + "HP:0002270", + "UBERON:0015022", + "UPHENO:0086866", + "UBERON:0001445", + "UPHENO:0033603", + "UBERON:0001466", + "HP:0040069", + "UPHENO:0076744", + "HP:0034915", + "UBERON:0000915", + "UPHENO:0003070", + "UPHENO:0050008", + "UBERON:0002090", + "HP:0006496", + "UPHENO:0076748", + "UBERON:0012152", + "UBERON:0015023", + "HP:0001639", + "UPHENO:0002896", + "UPHENO:0076806", "UPHENO:0081575", - "HP:0045010", - "UPHENO:0020748", - "UPHENO:0086700", - "HP:0012373", - "HP:0100542", - "HP:0008053", - "UPHENO:0002828", - "HP:0000951", - "HP:0009484", - "UPHENO:0081709", + "UBERON:0006717", + "UBERON:0000061", + "UPHENO:0076803", + "GO:0001838", + "UBERON:0001711", + "UBERON:0003221", + "UBERON:0002137", + "UBERON:0011143", + "UBERON:0007842", + "UBERON:0002113", + "HP:0001199", + "UPHENO:0000996", + "UBERON:0005881", + "UPHENO:0076779", + "UBERON:0001846", + "UBERON:0002217", + "UBERON:0000978", + "UPHENO:0087123", + "HP:0000077", + "UBERON:0002199", + "UPHENO:0075843", + "HP:0000172", + "UBERON:0000464", + "UPHENO:0086005", + "UPHENO:0087510", + "UBERON:0000964", + "GO:0009653", + "UPHENO:0076786", + "UBERON:0001703", + "UPHENO:0078215", + "UBERON:0004089", + "UPHENO:0021823", + "UPHENO:0005016", + "UPHENO:0033626", "UPHENO:0081570", - "HP:0031704", - "UPHENO:0002839", - "HP:0010293", - "UPHENO:0080601", - "UPHENO:0087501", - "UPHENO:0076800", + "UBERON:0002553", + "UBERON:0012240", + "UBERON:0001734", + "UBERON:0005944", + "UBERON:0000079", + "UBERON:0001716", "HP:0031816", - "UPHENO:0002896", - "UPHENO:0075175", - "HP:0000174", "UPHENO:0088088", - "HP:0001034", - "UPHENO:0074589", - "UPHENO:0080662", - "HP:0011849", + "UBERON:0034768", + "UBERON:0007375", + "HP:0008678", + "HP:0012372", + "UBERON:0005179", + "CL:0000225", "UPHENO:0054970", + "UBERON:0001359", + "UPHENO:0074584", + "UBERON:0000167", + "UBERON:0001442", + "UPHENO:0078736", + "HP:0031105", + "UBERON:0002416", + "UBERON:0002097", + "HP:0012210", + "UPHENO:0059829", + "UBERON:0002349", + "UPHENO:0080662", + "GO:0001841", + "HP:0000309", "UPHENO:0082682", - "HP:0030311", - "BFO:0000001", - "UPHENO:0002635", + "UPHENO:0080601", + "UPHENO:0086172", + "UPHENO:0074589", + "UPHENO:0080221", + "HP:0008053", + "UPHENO:0022529", + "UPHENO:0054957", + "UPHENO:0084511", + "UPHENO:0066927", + "UBERON:0010230", + "UBERON:0010000", "HP:0011121", - "HP:0000002", - "UPHENO:0076740", - "HP:0000953", - "UPHENO:0080087", - "HP:0012733", - "HP:0006824", - "HP:0005922", - "HP:0001872", - "UPHENO:0084761", - "HP:0001010", - "UPHENO:0087974", - "HP:0031105", + "HP:0001034", + "UPHENO:0074575", + "UPHENO:0076739", + "UPHENO:0086116", + "UBERON:0000122", + "HP:0045010", + "UPHENO:0053298", + "UPHENO:0081709", + "HP:0009484", + "UPHENO:0002708", + "HP:0006824", + "UBERON:0000981", + "UPHENO:0085876", + "UBERON:0001785", + "UPHENO:0031170", + "UBERON:0001021", + "HP:0006501", + "HP:0001642", + "UBERON:0005181", + "UPHENO:0005116", + "UPHENO:0087665", + "UBERON:0000010", "HP:0045060", - "UPHENO:0072402", - "UPHENO:0019886", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UBERON:0002384", + "UBERON:0012141", + "UPHENO:0085371", + "UPHENO:0076723", "UPHENO:0084766", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0080201", + "UBERON:0003101", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "HP:0008373", "HP:0005927", - "UPHENO:0050622", - "HP:0040068", - "UPHENO:0002708", - "HP:0012638", - "HP:0001780", - "HP:0006101", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0076735", - "UPHENO:0078081", - "UPHENO:0080585", "UPHENO:0078179", - "HP:0004348", - "HP:0001551", - "UPHENO:0086792", - "UPHENO:0078288", - "UPHENO:0076786", - "UPHENO:0078215", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "HP:0004209", + "UPHENO:0082671", "UPHENO:0082834", - "HP:0004349", - "UPHENO:0084511", - "UPHENO:0086144", + "HP:0004209", + "UPHENO:0087203", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082835", + "UPHENO:0080369", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", "HP:0009179", - "UPHENO:0076704", - "HP:0004207", + "HP:0011446", + "HP:0030084", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0016491", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", + "UPHENO:0076736", + "UBERON:0019221", + "UBERON:5003625", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "HP:0200007", + "HP:0009821", + "UPHENO:0081790", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0012274", + "UPHENO:0053580", "HP:0040019", + "UPHENO:0069293", + "UPHENO:0012541", + "UPHENO:0087974", + "UBERON:0004770", + "UBERON:0001271", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "UPHENO:0060026", + "HP:0001367", + "UPHENO:0002700", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0087892", + "UBERON:0010425", + "UBERON:0007823", + "UBERON:0001464", + "UPHENO:0087602", + "UBERON:0000982", + "UBERON:0005913", + "HP:0002644", + "UBERON:0003828", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0003463", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:5002389", + "UPHENO:0087558", + "UBERON:0000473", + "UPHENO:0020967", + "GO:0002009", + "HP:0045005", + "HP:0000271", + "UBERON:0005893", + "UBERON:0002544", + "UPHENO:0087585", + "UBERON:0000060", + "UPHENO:0076695", + "HP:0003468", + "UPHENO:0076810", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0081436", + "UPHENO:0087858", + "UBERON:0004375", + "GO:0009792", + "UBERON:5101463", + "GO:0007399", + "GO:0021915", + "UBERON:0005897", + "UBERON:0005174", + "GO:0048729", + "GO:0009888", + "UBERON:0001558", + "GO:0048731", + "UPHENO:0075148", + "UBERON:0004249", + "GO:0035295", + "UBERON:0004908", + "UBERON:0006598", + "UBERON:0002240", + "HP:0002143", + "HP:0000119", + "GO:0043009", + "GO:0014020", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "UPHENO:0084729", + "UBERON:0016880", + "GO:0001503", + "UBERON:0002412", + "UPHENO:0088123", + "HP:0007874", + "UPHENO:0002992", + "HP:0001710", + "UPHENO:0087363", + "HP:0000364", + "GO:0009790", + "UBERON:0002050", + "UBERON:0000011", + "UPHENO:0087121", + "HP:0002251", + "UPHENO:0002941", + "UBERON:0013768", + "UPHENO:0084771", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "HP:0012331", + "HP:0001000", + "UBERON:0012430", + "UPHENO:0021045", + "UPHENO:0020258", + "UBERON:0002005", + "HP:0410015", + "UBERON:0002410", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "UPHENO:0056072", + "HP:0001549", + "UPHENO:0019477", + "UBERON:0005401", + "UBERON:0011300", + "UPHENO:0075655", + "UBERON:0011164", + "UBERON:0003457", + "UPHENO:0087530", ], "has_phenotype_closure_label": [ - "Hypopigmented skin patches", + "decreased biological_process in skin of body", + "decreased qualitatively pigmentation in independent continuant", + "decreased biological_process in independent continuant", + "decreased biological_process in multicellular organism", "Hypopigmentation of the skin", - "decreased pigmentation in skin of body", - "decreased qualitatively pigmentation", - "decreased pigmentation in multicellular organism", + "decreased qualitatively biological_process in independent continuant", + "anucleate cell", + "secretory cell", + "abnormal platelet", + "abnormally decreased number of myeloid cell", + "abnormally decreased number of platelet", "abnormal blood cell", - "abnormal blood cell morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormal platelet morphology", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Abnormal cellular physiology", + "Abnormality of chromosome stability", + "obsolete cell", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", "Abnormality of body height", - "Abnormal cell morphology", - "Sideroblastic anemia", + "oxygen accumulating cell", + "erythrocyte differentiation", "abnormal myeloid cell morphology", + "Anemia of inadequate production", + "Sideroblastic anemia", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", "Abnormal myeloid cell morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte", + "myeloid cell", + "blood cell", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "cellular developmental process", "abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", + "myeloid cell differentiation", + "hemopoiesis", + "homeostatic process", + "immune system process", + "cellular process", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "Abnormal size of the palpebral fissures", "decreased length of palpebral fissure", + "abnormality of immune system physiology", "Abnormality of immune system physiology", - "Unusual infection", - "Recurrent urinary tract infections", + "Cryptorchidism", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised testis", "Abnormal ureter morphology", - "abnormal ureter", - "abnormality of renal system physiology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", - "Puberty and gonadal disorders", + "abnormal ureter morphology", + "Abnormality of the ureter", + "ureter", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", "abnormally decreased functionality of the gonad", - "Orofacial cleft", - "abnormality of anatomical entity height", + "Craniofacial cleft", + "Cleft palate", "High palate", "increased height of anatomical entity in independent continuant", - "abnormal size of head", + "increased height of the anatomical entity", "increased size of the head", - "Dolichocephaly", - "abnormal skin of head morphology", + "Increased head circumference", + "skin of face", + "upper eyelid", + "head or neck skin", + "Epicanthus", "abnormal skin of face morphology", - "abnormal forehead morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", + "skin of head", + "increased length of the epicanthal fold", + "zone of skin", + "abnormal asymmetry of anatomical entity", + "sloped anatomical entity", + "abnormal shape of forehead", + "abnormal mandible morphology", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "facial skeleton", + "mandible", + "facial bone", "decreased size of the mandible", - "anatomical entity hypoplasia in face", + "Hypoplastic facial bones", "facial bone hypoplasia", - "mandible hypoplasia", - "abnormally localised anatomical entity", - "Micrognathia", + "bone of lower jaw", "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "aplasia or hypoplasia of skull", - "Facial asymmetry", - "abnormal sensory perception of sound", + "Abnormal mandible morphology", + "anatomical entity hypoplasia in face", + "lower jaw region", + "bone element hypoplasia in face", + "mandible hypoplasia", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", + "Hearing abnormality", + "decreased qualitatively sensory perception of sound", + "sloped forehead", + "sensory perception of mechanical stimulus", + "abnormal sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "Strabismus", + "Abnormal conjugate eye movement", + "abnormal sensory perception", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", "abnormal size of eyeball of camera-type eye", - "abnormal vestibulo-ocular reflex", - "abnormal internal ear", + "Abnormality of globe size", + "abnormal physiologic nystagmus", + "cranial nerve related reflex", "abnormality of ear physiology", - "Cryptorchidism", - "Nystagmus", + "Abnormal vestibulo-ocular reflex", + "Abnormality of eye movement", + "abnormal eye movement", + "abnormal vestibulo-ocular reflex", + "eye movement", "Abnormal vestibular function", - "Abnormality of the uterus", - "abnormal uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "bicornuate anatomical entity", "abnormal female reproductive system", "shape uterus", - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", + "oviduct", + "abnormal internal female genitalia morphology", + "female organism", + "Abnormality of the female genitalia", + "internal female genitalia", + "abnormal uterus", + "Abnormality of the uterus", + "uterus", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manus bone", + "skeleton of manual acropodium", + "abnormal manual digit 1 morphology", + "abnormal visual perception", "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", + "Triphalangeal thumb", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1", + "abnormal anatomical entity morphology in the skeleton of manus", + "Bicornuate uterus", + "abnormal behavior", "Hyperreflexia", + "abnormal response to external stimulus", + "Abnormality of movement", + "body part movement", "increased qualitatively response to stimulus", - "increased reflex", - "abnormal musculoskeletal movement", - "abnormal behavior", - "decreased embryo development", + "reflex", + "multicellular organismal movement", + "abnormal voluntary musculoskeletal movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "Recurrent urinary tract infections", + "involuntary movement behavior", "abnormal embryo development", - "Intrauterine growth retardation", - "shape forehead", + "decreased embryo development", + "herniated anatomical entity", + "Abnormality of the abdominal wall", + "abnormal umbilicus morphology", + "umbilicus", + "connective tissue", + "abnormal incomplete closing of the abdominal wall", "herniated abdominal wall", + "Hernia of the abdominal wall", "Abnormal umbilicus morphology", "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Hernia", + "interatrial septum", "abnormal interatrial septum morphology", - "Tetralogy of Fallot", - "Overriding aorta", - "Ventricular hypertrophy", + "abnormal cardiac atrium morphology", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "hypertrophic heart right ventricle", + "interventricular septum", + "metabolic process", "Abnormal cardiac septum morphology", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", - "abnormal interventricular septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "abnormally increased volume of anatomical entity", "abnormal cardiac septum morphology", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "cardiac septum", + "abnormally increased volume of anatomical entity", + "hypertrophic cardiac ventricle", + "Abnormal ventricular septum morphology", + "Global developmental delay", + "reflexive behavior", "Right ventricular hypertrophy", - "abnormal heart right ventricle morphology", + "heart layer", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "abnormal myocardium morphology", + "vasculature of organ", + "abnormal female reproductive organ morphology", "abnormally decreased functionality of the anatomical entity", - "abnormally decreased functionality of the myocardium", + "vasculature of trunk", + "heart blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal coronary vessel morphology", "abnormal incomplete closing of the ductus arteriosus", - "abnormal eye movement", - "abnormal artery morphology in the independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "cardiac valve", + "internal ear", + "heart left ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "Abnormal heart valve morphology", "abnormal cardiac valve morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", "abnormal aortic valve morphology", - "abnormal outflow part of left ventricle morphology", + "heart", + "abnormal semi-lunar valve morphology", + "abnormal heart morphology", "abnormal anatomical entity morphology in the heart", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "bone of jaw", + "aortic system", "Abnormal aortic morphology", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "flat longitudinal arch of pes", - "decreased qualitatively sensory perception of mechanical stimulus", + "aorta", + "longitudinal arch of pes", "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "flat anatomical entity in independent continuant", "flat anatomical entity", - "abnormal cerebral cortex morphology", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "abnormal vault of skull", - "abnormally protruding anatomical entity", - "abnormal shape of frontal cortex", - "Abnormal calvaria morphology", - "Abnormal cerebral cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", - "Abnormal shape of the frontal region", - "abnormal size of heart right ventricle", - "Meckel diverticulum", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "abnormal ganglion morphology", - "abnormal incomplete closing of the arch of centrum of vertebra", - "Neural tube defect", - "abnormal shape of forehead", - "abnormal tube formation", - "abnormal vertebral column morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal vertebral morphology", - "Hernia", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal opening of the anatomical entity", - "Abnormality of femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal size of palpebral fissure", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormal femur morphology", - "Lower extremity joint dislocation", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "anatomical entity dislocation", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Joint dislocation", - "abnormal synovial joint morphology", - "Abnormal joint morphology", - "Sloping forehead", - "decreased size of the ulna", - "decreased length of anatomical entity in independent continuant", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "decreased length of forelimb zeugopod bone", + "flattened anatomical entity in independent continuant", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "neurocranium", + "abnormal head bone morphology", + "abnormal forehead", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "lower urinary tract", + "Abnormality of globe location", + "pelvic region of trunk", + "myeloid cell homeostasis", + "glans penis", + "abnormal posterior nasal aperture morphology", + "abnormal internal naris", + "material anatomical entity", + "cranial skeletal system", + "posterior nasal aperture", "decreased size of the anatomical entity in the pectoral complex", - "Hypoplasia of the ulna", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", + "Abnormal skull morphology", + "anus", + "abnormal nose", + "abnormal skull morphology", + "anus atresia", + "reproductive organ", + "Short long bone", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Cataract", + "subdivision of digestive tract", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Weight loss", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal anus", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "neural tube formation", + "abnormal common carotid artery plus branches morphology", + "Abnormal anus morphology", + "abnormal anatomical entity mass density", + "outflow tract", + "germ cell", + "arterial system", + "Decreased bone element mass density", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "anterior uvea", + "vestibulo-auditory system", "Aplasia/Hypoplasia affecting the uvea", - "Abnormal skeletal morphology", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "changed biological_process rate in independent continuant", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal iris morphology", - "abnormal penis", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", + "transparent eye structure", + "system", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal respiratory system", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "abnormal embryo morphology", - "Abnormal venous morphology", + "Clinodactyly", + "Eumetazoa", + "Eukaryota", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "forelimb long bone", + "abnormal size of skull", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "skeleton of limb", + "postcranial axial skeletal system", + "Clubbing of toes", + "drooping eyelid", + "Dolichocephaly", + "common carotid artery plus branches", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "root", + "bone element", + "Ptosis", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "limb skeleton subdivision", + "Abnormality of the choanae", + "Abnormal cell morphology", + "Abnormal palate morphology", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormal forearm bone morphology", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "Atrial septal defect", + "drooping anatomical entity", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "Abnormal morphology of ulna", + "skeletal element", + "zeugopod", + "Aplasia/Hypoplasia of the iris", + "mouth", + "paired limb/fin", + "abnormal skeletal system", + "Abnormal calvaria morphology", + "Anal atresia", + "abnormally formed anterior chamber of eyeball", + "anatomical conduit", + "septum", + "Abnormality of limb bone morphology", + "abnormal digestive system morphology", + "endochondral bone", + "subdivision of skeleton", + "Abnormal forebrain morphology", + "appendage girdle complex", + "subdivision of head", + "Abnormality of limbs", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", "abnormal blood vessel morphology", - "abnormal vascular system morphology", - "Ventriculomegaly", - "sloped anatomical entity", + "Abnormal venous morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "venous blood vessel", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "abnormal liver", + "embryonic morphogenesis", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "abnormal vasculature", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "olfactory system", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "cardiovascular system", + "blood vasculature", + "blood vessel", + "penis", + "Orofacial cleft", + "digestive system element", + "Abnormality of body weight", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "abnormal artery morphology in the independent continuant", + "abnormal cranium morphology", + "Abnormality iris morphology", + "abnormal penis morphology", + "organism", + "secondary palate", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", "abnormal cardiovascular system morphology", "Abnormality of mental function", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", + "nervous system process", "Neurodevelopmental abnormality", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", + "cerebrospinal fluid", + "forelimb bone", + "Abnormal uvula morphology", + "abnormal cardiac ventricle morphology", + "endochondral element", + "anatomical entity hypoplasia", "abnormal central nervous system morphology", + "abnormal brain ventricle morphology", + "skeletal joint", + "decreased length of forelimb zeugopod bone", + "Abnormality of the nose", + "developmental process involved in reproduction", + "organ system subdivision", + "abnormal nervous system morphology", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "pedal digit digitopodial skeleton", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "Abnormal cardiovascular system physiology", "Abnormal cerebrospinal fluid morphology", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", + "forelimb zeugopod bone", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "abnormal nervous system", + "abnormal lens of camera-type eye morphology", + "Hydrocephalus", + "abnormal anus morphology", "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormality of brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "ventricular system of central nervous system", + "anatomical entity dysfunction in independent continuant", "abnormal brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "shape cornea", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormal small intestine morphology", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "abnormal anatomical entity", - "abnormal artery morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal forearm morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "decreased biological_process", + "abnormal neocortex morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "sensory perception", "abnormality of anatomical entity mass", - "Ventricular septal defect", + "Abnormality of corneal shape", + "segment of autopod", + "Abnormal anterior eye segment morphology", "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", + "cerebral hemisphere", "abnormal cornea, asymmetrically curved", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "abnormal vein morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Decreased body weight", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal eye physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", + "Abnormal cellular immune system morphology", + "endocrine gland", + "nose", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "ocular surface region", "abnormal internal genitalia", - "Abnormal tracheobronchial morphology", - "abnormal myocardium morphology", + "Finger clinodactyly", + "epithelial tube", + "curvature anatomical entity", + "vessel", + "lateral structure", + "pulmonary valve", + "cellular organisms", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "absent sperm in the independent continuant", + "pelvic region element", + "All", + "Abnormal bone structure", + "Abnormality of male external genitalia", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "olfactory organ", + "Abnormality of the gastrointestinal tract", + "abnormal number of anatomical enitites of type anatomical entity", + "absent gamete", + "iris", + "naris", + "Small intestinal stenosis", + "male gamete generation", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "arm", + "abnormal bone of pelvic complex morphology", + "vertebra", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "gonad", + "abnormal ulna morphology", + "Decreased anatomical entity mass density", + "ganglion", + "sensory system", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "upper limb segment", + "biological_process", + "abnormal reproductive process", + "opaque lens of camera-type eye", + "abnormal shape of external ear", + "abnormal shape of continuant", + "camera-type eye", + "Hypertrophic cardiomyopathy", "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Recurrent infections", - "asymmetrically curved cornea", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", + "neural tube development", + "external genitalia", + "abnormal anatomical entity morphology in the brain", + "abnormal male reproductive system morphology", + "mesoderm-derived structure", + "autopod bone", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "intramembranous bone", + "pelvic complex", + "anatomical line between pupils", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "Abnormality of the head", + "abnormal blood cell morphology", "abnormal cell", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal digestive system", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormal visual perception", + "male reproductive organ", + "disconnected anatomical group", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "absent gamete", - "abnormal phenotype by ontology source", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal form of the vertebral bodies", - "entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal spatial pattern of anatomical entity", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "abnormal cornea morphology", - "continuant", - "abnormal craniocervical region morphology", - "Slanting of the palpebral fissure", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormally increased number of anatomical entity in the independent continuant", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "abnormal amniotic fluid", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "increased biological_process", + "transudate", + "Abnormal joint morphology", + "anterior region of body", "abnormal head", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", + "artery", + "jaw region", + "epithelium development", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "reproductive structure", + "tunica fibrosa of eyeball", + "abnormal limb bone morphology", + "anatomical system", + "upper digestive tract", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "testis", + "non-connected functional system", + "abnormal growth", + "abnormal craniocervical region morphology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "appendage girdle region", + "platelet", "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal reproductive system morphology", + "hip", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal orbital region", + "simple eye", "abnormal male reproductive organ morphology", - "decreased developmental process", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", + "occurrent", + "pedal digit phalanx endochondral element", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "abnormality of male reproductive system physiology", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal face morphology", - "increased height of the anatomical entity", - "abnormal upper urinary tract", - "Limb undergrowth", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Overriding aorta", + "trachea", + "Abnormality of the skeletal system", + "Deviation of finger", + "organ", + "pedal digit plus metapodial segment", + "reproduction", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal manual digit morphology in the manus", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal eyelid morphology", + "manus", + "exocrine system", + "Abnormality of the genitourinary system", + "absent germ cell", + "Abnormal heart valve physiology", + "changed biological_process rate", "Abnormality of the outer ear", "abnormal gamete", - "abnormality of camera-type eye physiology", - "abnormal gamete generation", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", + "quality", + "Slanting of the palpebral fissure", + "ectoderm-derived structure", + "valve", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "palpebral fissure", + "abnormal head morphology", "decreased spermatogenesis", - "abnormal kidney morphology", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Abnormal cornea morphology", - "Clubbing of toes", - "abnormal spermatogenesis", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal penis morphology", + "digestive tract", + "abnormal shape of frontal cortex", + "abnormal great vessel of heart morphology", + "frontal cortex", + "Displacement of the urethral meatus", + "nervous system", + "abnormal face", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "vault of skull", + "skeleton of pectoral complex", + "specifically dependent continuant", + "organism substance", + "female reproductive organ", + "ocular adnexa", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "subdivision of organism along main body axis", + "cranium", + "abnormal ileum morphology", + "neural tube closure", + "curved anatomical entity", + "internal male genitalia", + "digestive system", + "decreased length of long bone", + "anatomical entity", + "musculoskeletal movement", + "decreased qualitatively biological_process", "abnormal ocular adnexa", - "Non-obstructive azoospermia", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormal shape of continuant", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Absent testis", - "Abnormal male reproductive system physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "changed developmental process rate", - "abnormal genitourinary system", - "abnormal vasculature", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "Anal atresia", - "abnormal small intestine", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Abnormality of the anus", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "Decreased anatomical entity mass", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", + "entity", + "Abnormal form of the vertebral bodies", + "Hypogonadism", + "arm bone", + "urethral opening", + "abnormal spinal cord morphology", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "multicellular organismal reproductive process", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "forelimb endochondral element", "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "opaque anatomical entity", - "Abnormal lens morphology", - "drooping eyelid", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Abnormal axial skeleton morphology", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "abnormal internal naris", - "Choanal atresia", - "posterior nasal aperture atresia", - "Short long bone", - "anus atresia", - "abnormal palpebral fissure", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "Abnormality of the choanae", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", + "outflow tract of ventricle", + "Abnormality of the skin", + "abnormal leukocyte morphology", + "clavate digit", + "shape eyelid", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "material entity", + "increased reflex", + "long bone", "Abnormality of the orbital region", - "abnormal nerve", - "Abnormality of the lower urinary tract", - "Displacement of the urethral meatus", - "abnormal urethra", - "abnormal renal system", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "abnormal shape of palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Abnormality of the vertebral column", - "Macule", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "Abnormal forebrain morphology", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal hematopoietic system", - "abnormally decreased number of hematopoietic cell", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", + "roof of mouth", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "abnormal anterior uvea morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "postcranial axial skeleton", + "Decreased body weight", + "autopodial extension", + "forehead", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "Abnormal penis morphology", + "Intellectual disability", + "eyelid", "Abnormality of the ear", "abnormally decreased number of leukocyte", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "Abnormal reflex", + "abnormal anatomical entity morphology", + "hindlimb joint", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal camera-type eye morphology", + "Abnormal eyelid morphology", + "gamete generation", + "protein-containing material entity", "abnormally decreased number of cell in the independent continuant", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Myelodysplasia", - "Frontal bossing", - "abnormal size of brain ventricle", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal liver", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", + "abnormal hematopoietic system", + "asymmetrically curved cornea", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "abnormal number of anatomical enitites of type sperm", + "external male genitalia", + "Abnormal external genitalia", + "Abnormality of the peripheral nervous system", + "trunk region element", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "organism subdivision", + "abnormality of camera-type eye physiology", + "endocrine system", + "immune system", + "Abnormality of the curvature of the cornea", + "abnormal gamete generation", + "leukocyte", + "Abnormal facial shape", + "tube morphogenesis", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "reproductive system", + "opaque anatomical entity", + "system process", + "male gamete", + "visual system", + "lower respiratory tract", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Cognitive impairment", + "organ subunit", + "abnormal male reproductive system", + "abnormal mouth morphology", + "abnormal bone element mass density", + "main body axis", + "obsolete multicellular organism reproduction", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "upper jaw region", + "gamete", + "tube formation", + "Abnormality of reproductive system physiology", + "process", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "limb", + "heart right ventricle", + "lens of camera-type eye", + "increased size of the anatomical entity", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "abnormal external male genitalia", + "abnormal tracheobronchial tree morphology", + "internal naris", + "sperm", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal postcranial axial skeleton morphology", + "Opisthokonta", + "Abnormality of the ocular adnexa", + "Abnormality of digestive system morphology", + "ear", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "orbital region", + "Abnormal pinna morphology", + "Reduced bone mineral density", + "Myelodysplasia", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "physiologic nystagmus", + "hemolymphoid system", + "Nystagmus", + "esophagus", + "Lower extremity joint dislocation", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "abnormal artery morphology", + "respiratory tract", + "germ line cell", + "bone element hypoplasia in independent continuant", + "respiratory tube", + "glans", + "abnormality of multicellular organism mass", + "subdivision of tube", + "Abnormal lens morphology", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "abnormal digestive system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "abnormal respiratory system", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal incomplete closing of the anatomical entity", + "venous system", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Abnormal morphology of the great vessels", + "pectoral complex", + "abnormality of male reproductive system physiology", + "craniocervical region", + "Abnormality of cardiovascular system morphology", + "abnormal developmental process", + "gland", + "Abnormal cornea morphology", + "abnormal secondary palate morphology", + "tube", + "thoracic segment of trunk", + "pes bone", + "viscus", + "vertebral element", + "respiratory airway", "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", "Growth delay", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "Duodenal stenosis", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "abnormal intestine morphology", - "Abnormal duodenum morphology", - "Abnormality of the lower limb", - "abnormal digit morphology", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", + "kidney", + "Abnormality of the respiratory system", + "girdle skeleton", + "Hip dislocation", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "cornea", + "abdominal wall", "3-D shape anatomical entity", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "renal system", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the lower urinary tract", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "abnormal urethra", + "Abnormal male urethral meatus morphology", + "excretory system", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "Abnormality of prenatal development or birth", + "male urethra", + "Abdominal wall defect", "Almond-shaped palpebral fissure", + "head bone", "shape digit", "Clubbing", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "abnormal digit", - "abnormal pedal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "abnormal oral cavity morphology", - "Abnormal soft palate morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "Hernia of the abdominal wall", - "Abnormal palate morphology", + "cranial neuron projection bundle", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Short stature", + "Abnormality of the vertebral column", + "abnormal vertebral column", + "vertebral column", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", "Abnormal midface morphology", - "abnormal midface morphology", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "Neurodevelopmental delay", - "abnormal skin of body", - "Epicanthus", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Deviation of the 5th finger", + "regional part of brain", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Hearing impairment", + "abnormal neurocranium morphology", + "Decreased head circumference", + "Hematological neoplasm", + "abnormal immune system morphology", + "lobe of cerebral hemisphere", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "Leukopenia", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "Facial asymmetry", + "Abnormal leukocyte count", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "abnormally decreased number of leukocyte in the blood", + "semi-lunar valve", + "hematopoietic cell", + "motile cell", + "abnormal leg", + "nucleate cell", + "haemolymphatic fluid", + "systemic artery", + "delayed biological_process", + "decreased pigmentation in independent continuant", + "tissue development", + "delayed growth", + "Abnormality of vision", + "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", "Abnormality of the integument", - "abnormal cardiac valve morphology in the heart", + "abnormal size of brain ventricle", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "glandular system", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "abnormal hypothalamus-pituitary axis", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "abnormal anatomical entity topology in independent continuant", + "non-material anatomical boundary", + "Hypertelorism", + "abnormal anatomical entity length", + "increased anatomical entity length in independent continuant", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Renal insufficiency", + "late embryo", + "Cardiomyopathy", + "flat bone", "increased length of the anatomical entity", "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "ulna hypoplasia", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal integument", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "Cranial nerve paralysis", - "paralysed cranial nerve", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity, curved", + "anatomical line", + "immaterial anatomical entity", + "heart plus pericardium", + "gray matter of forebrain", + "Oligohydramnios", + "amniotic fluid", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "Abnormality of the autonomic nervous system", + "Absent testis", + "embryo", + "skeleton of lower jaw", + "abnormal small intestine", + "cavitated compound organ", + "Abnormal duodenum morphology", + "Azoospermia", + "Abnormal small intestine morphology", + "Ventricular septal defect", + "small intestine", + "duodenum", + "abnormal phalanx morphology", + "pes", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "pelvic appendage", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "digitopodium region", + "acropodium region", + "tube development", + "abnormal digit", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "skeleton of pedal digitopodium", + "leg", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "skeleton of pes", + "abnormal hindlimb morphology", + "Abnormal digit morphology", + "digit", + "Abnormality of the lower limb", + "3-D shape anatomical entity in independent continuant", + "shape forehead", + "posterior region of body", + "phalanx endochondral element", + "abnormal phalanx of pes morphology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "skeleton of digitopodium", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "individual digit of digitopodial skeleton", + "Choanal atresia", + "acropodial skeleton", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "phalanx", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "abnormal midface morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "abnormal oral cavity morphology", + "abnormal soft palate morphology", + "anatomical projection", + "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical cavity", + "palatine uvula", "Abnormal erythrocyte morphology", + "soft palate", + "Abnormal aortic valve morphology", + "midface", + "Abnormal soft palate morphology", + "Abnormal oral cavity morphology", + "Anemia", + "morphological feature", + "arterial blood vessel", + "anatomical structure development", + "Abnormality of skin morphology", + "abnormal cornea, curved", + "pigmentation", + "semen", + "abnormality of anatomical entity physiology", + "integumental system", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "integument", + "tracheobronchial tree", + "cerebral cortex", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "Abnormal ileum morphology", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal nerve", + "limb joint", + "Hyperpigmentation of the skin", + "increased biological_process in skin of body", + "increased pigmentation in independent continuant", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "independent continuant", + "abnormal pigmentation", + "abnormality of cranial nerve physiology", + "paralysed cranial nerve", + "vein", + "multi cell part structure", + "cranial nerve", + "Frontal bossing", + "nerve", + "Abnormal cranial nerve physiology", + "Cranial nerve paralysis", + "segment of manus", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "abnormal manus morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the extremities", + "circulatory system", + "Spina bifida", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "decreased pigmentation in skin of body", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "abnormal behavior process", "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", + "abnormal manus", + "skeleton of manus", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "anatomical space", "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "appendage", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", + "Clinodactyly of the 5th finger", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "Abnormality of bone mineral density", + "biogenic amine secreting cell", + "ossification", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the skeletal system", - "Deviation of finger", - "Abnormality of the eye", - "Finger clinodactyly", + "deviation of manual digit", + "manual digit 5", + "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "curved anatomical entity", - "decreased length of long bone", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "digit 1 or 5", + "trunk", + "manual digit 5 plus metapodial segment", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "deviation of digit towards the middle", + "Short forearm", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "forelimb zeugopod bone hypoplasia", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "Upper limb undergrowth", + "aplasia or hypoplasia of telencephalon", "decreased size of the anatomical entity in the independent continuant", + "abnormal incomplete closing of the interatrial septum", + "Decreased multicellular organism mass", + "intestine", "Aplasia/Hypoplasia of the ulna", - "bicornuate anatomical entity", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - ], - "has_phenotype_count": 106, - "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", "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:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], - "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", - "Multiple bilateral pneumothoraces", - "Pancytopenia", - "Multiple cutaneous malignancies", - ], - "has_phenotype_closure": [ - "HP:0008069", - "UPHENO:0002635", - "UPHENO:0086173", - "HP:0011893", - "UPHENO:0086172", - "UPHENO:0088166", - "HP:0011875", - "UPHENO:0076703", - "HP:0005561", - "HP:0010987", - "UPHENO:0086049", - "UPHENO:0085070", - "UPHENO:0085984", - "HP:0020047", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0011498", - "HP:0001876", - "UPHENO:0085371", - "HP:0025354", - "HP:0032251", - "UPHENO:0004459", - "HP:0001881", - "HP:0025461", - "UPHENO:0063722", - "UPHENO:0087123", - "UPHENO:0076675", - "UPHENO:0085195", - "UPHENO:0087339", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0012145", - "UPHENO:0085344", - "HP:0001873", - "HP:0002107", - "HP:0005939", - "UPHENO:0006910", - "UPHENO:0085144", - "UPHENO:0081590", - "UPHENO:0020584", - "UPHENO:0080377", - "UPHENO:0077426", - "UPHENO:0075696", + "articular system", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "Spinal dysraphism", + "articulation", + "increased size of the brain ventricle", + "zone of organ", + "abnormal voluntary movement behavior", + "tissue", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "skeletal joint dislocation", + "abnormal synovial joint morphology", + "Ventriculomegaly", + "multicellular organism development", + "trunk bone", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "peripheral nervous system", + "abnormal hip joint morphology", + "Micrognathia", + "anatomical entity dislocation", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "Abnormal hip bone morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "stylopod", + "upper leg bone", + "abnormally localised anatomical entity", + "Abnormal heart morphology", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "abnormal limb bone", + "anatomical structure morphogenesis", + "dentary", + "femur endochondral element", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "autopodial skeleton", + "epithelium", + "presumptive structure", + "abnormal neural tube morphology", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "nervous system development", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "Aplasia/Hypoplasia of the cerebrum", + "tube closure", + "neural tube", + "developing anatomical structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "embryonic structure", + "abnormal palpebral fissure", + "abnormal tube formation", + "Neural tube defect", + "anatomical structure formation involved in morphogenesis", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "embryo development", + "Abnormal neural tube morphology", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal multicellular organismal reproductive process", + "system development", + "appendicular skeleton", + "spinal cord", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "ganglion of peripheral nervous system", + "abnormal autonomic nervous system morphology", + "conceptus", + "abnormal vertebra morphology", + "embryonic epithelial tube formation", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Vertebral arch anomaly", + "dorsum", + "abnormal bony vertebral centrum morphology", + "brain ventricle", + "future nervous system", + "abnormal olfactory system morphology", + "bony vertebral centrum", + "enteric ganglion", + "Unusual infection", + "abnormal enteric ganglion morphology", + "neurocranium bone", + "Abnormal autonomic nervous system morphology", + "parasympathetic nervous system", + "autonomic nervous system", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "Abnormality of enteric ganglion morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "embryonic tissue", + "ileum", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal respiratory system morphology", + "abnormally protruding anatomical entity", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal vault of skull", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + "membrane bone", + "cranial bone", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "female reproductive system", + "dermal skeleton", + ], + "has_phenotype_count": 106, + "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", "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:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], + "has_phenotype_label": [ + "Osteomyelitis", + "Recurrent lower respiratory tract infections", + "Multiple bilateral pneumothoraces", + "Pancytopenia", + "Multiple cutaneous malignancies", + ], + "has_phenotype_closure": [ + "HP:0001574", + "HP:0007606", + "HP:0011793", + "UPHENO:0002635", + "HP:0002664", + "UBERON:0004121", + "UBERON:0002097", + "UBERON:0002199", + "UBERON:0002416", + "CL:0000738", + "UBERON:0002371", + "CL:0001035", + "UBERON:0002193", + "CL:0002242", + "CL:0000225", + "CL:0000255", + "CL:0000219", + "UPHENO:0086005", "UPHENO:0084928", - "UPHENO:0082875", - "BFO:0000001", - "UPHENO:0085118", - "HP:0002715", - "UPHENO:0081440", + "CL:0000232", + "CL:0002092", + "UPHENO:0085068", + "UPHENO:0086045", + "HP:0001876", "UPHENO:0085302", - "UPHENO:0001001", - "HP:0002086", - "HP:0000001", - "UPHENO:0001002", - "HP:0000924", - "UPHENO:0059829", + "HP:0032251", + "UPHENO:0011498", + "HP:0025354", + "UPHENO:0076675", + "UPHENO:0006910", + "UPHENO:0086049", + "HP:0001872", + "UPHENO:0063722", "HP:0011842", - "UPHENO:0002332", - "HP:0033127", - "UPHENO:0049584", - "UPHENO:0049586", - "UPHENO:0076684", - "BFO:0000002", - "UPHENO:0049588", - "UPHENO:0002536", - "HP:0002783", - "HP:0002664", - "BFO:0000020", - "UPHENO:0001005", - "HP:0012647", - "UPHENO:0019970", - "UPHENO:0002263", - "UPHENO:0074572", - "UPHENO:0085068", - "HP:0011843", - "HP:0002088", - "HP:0011793", - "UPHENO:0080662", - "UPHENO:0002948", - "HP:0007606", - "HP:0012649", - "HP:0000118", - "UPHENO:0001003", - "HP:0000951", - "UPHENO:0074685", - "UPHENO:0080221", + "UPHENO:0087123", + "UPHENO:0085118", + "UPHENO:0086172", + "CL:0000763", + "CL:0000458", + "CL:0000151", + "HP:0011873", "UPHENO:0084987", - "UPHENO:0049587", - "UPHENO:0074624", - "HP:0010978", + "CL:0000233", + "UPHENO:0004459", + "UPHENO:0086173", + "UBERON:0000479", + "UPHENO:0085144", + "UPHENO:0085984", + "UPHENO:0085195", + "HP:0011875", + "UPHENO:0088166", + "UPHENO:0076703", + "CL:0000457", + "UPHENO:0085371", + "HP:0012145", + "HP:0005561", + "UPHENO:0087355", + "HP:0011893", + "HP:0020047", + "UPHENO:0077426", + "NCBITaxon:6072", + "UPHENO:0083263", + "UBERON:0000468", "HP:0002754", "UPHENO:0002964", + "HP:0010978", + "HP:0000951", "HP:0012252", - "HP:0001574", - "UPHENO:0082723", - "HP:0001871", - "UPHENO:0086045", - "UPHENO:0082682", - "UPHENO:0086908", - "UPHENO:0083263", - "UPHENO:0074687", + "GO:0006952", + "UBERON:0001062", + "UPHENO:0080377", + "UBERON:0000042", + "UPHENO:0074624", + "BFO:0000040", + "UBERON:0015212", + "NCBITaxon:33154", + "UBERON:0010000", "UPHENO:0080693", + "UPHENO:0074687", + "UPHENO:0001003", + "UPHENO:0001005", + "CL:0000329", + "UPHENO:0081590", + "HP:0012647", "UPHENO:0003811", - "HP:0002103", - "HP:0032101", - "UPHENO:0087433", - "HP:0011947", - "HP:0001872", - "UPHENO:0076692", - "UPHENO:0015280", - "PATO:0000001", + "UPHENO:0082682", + "UBERON:0000061", + "UPHENO:0074685", + "UPHENO:0080221", + "UBERON:0000481", + "UPHENO:0081440", + "UBERON:0000025", + "HP:0002715", + "UBERON:0004765", + "UBERON:0034923", + "BFO:0000020", + "UPHENO:0001002", + "HP:0000118", + "UBERON:0002390", + "GO:0006954", + "UBERON:0000064", + "CL:0000988", + "UBERON:0000465", + "UBERON:0000060", + "GO:0050896", + "HP:0012649", + "UPHENO:0049584", + "UPHENO:0049587", + "UPHENO:0002948", + "UPHENO:0049588", + "UPHENO:0086908", + "UPHENO:0001001", + "UPHENO:0002263", + "BFO:0000002", + "HP:0033127", + "UPHENO:0002332", + "UBERON:0000467", + "UBERON:0011216", + "UBERON:0002100", + "UPHENO:0059829", + "UBERON:0002405", + "NCBITaxon:2759", + "UBERON:0002204", + "BFO:0000015", + "HP:0008069", + "UBERON:0001474", + "HP:0005939", + "CL:0000000", "UPHENO:0054970", + "UBERON:0000915", + "PATO:0000001", "HP:0002719", + "UPHENO:0085344", + "HP:0001881", + "UBERON:0000065", "HP:0002205", + "BFO:0000001", + "UPHENO:0080662", + "UBERON:0004120", + "BFO:0000004", + "UBERON:0001005", + "GO:0008150", + "CL:0000764", + "UPHENO:0074572", + "NCBITaxon:1", + "UPHENO:0082875", + "UPHENO:0002536", + "HP:0011843", + "HP:0002088", + "UBERON:0015203", + "UBERON:0005906", + "UBERON:0001434", + "UBERON:0002048", + "UBERON:0005177", + "UBERON:0003103", + "UBERON:0000171", "UPHENO:0004536", - "UPHENO:0020748", + "HP:0002086", + "HP:0002783", + "UBERON:0005181", + "UPHENO:0085189", + "HP:0025461", + "NCBITaxon:33208", + "UBERON:0000077", + "UBERON:0002075", + "HP:0032101", + "HP:0001873", + "UPHENO:0019970", + "UBERON:0013702", + "HP:0001871", + "UPHENO:0049586", + "UPHENO:0075696", + "HP:0002103", + "UBERON:0000475", + "UPHENO:0020748", + "UBERON:0000062", + "UBERON:0001004", + "UBERON:0013701", + "CL:0000081", + "UBERON:0009569", + "UPHENO:0085070", + "UPHENO:0076692", + "UPHENO:0087339", + "UPHENO:0087433", + "HP:0011947", + "OBI:0100026", + "UPHENO:0020584", + "UPHENO:0076684", + "UBERON:0001558", + "HP:0000001", + "UBERON:0004111", + "UBERON:0005178", + "UPHENO:0082723", + "UPHENO:0015280", + "UBERON:0034925", + "UBERON:0004119", + "UBERON:0000170", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0013522", + "BFO:0000003", + "PR:000050567", + "GO:0006950", + "NCBITaxon:131567", + "HP:0010987", + "HP:0000924", + "UBERON:0000977", + "HP:0002107", + "UBERON:0009778", ], "has_phenotype_closure_label": [ + "Neoplasm by anatomical site", "Multiple cutaneous malignancies", - "Abnormality of the integument", + "Neoplasm of the skin", + "Abnormality of the skin", "Neoplasm", - "abnormally decreased number of anatomical entity", - "abnormal immune system morphology", - "Abnormality of thrombocytes", - "abnormal integument", - "abnormal cell morphology", - "abnormal bone marrow cell", + "integumental system", + "skeletal element", + "bone marrow", + "oxygen accumulating cell", + "hemolymphoid system", + "nucleate cell", + "hematopoietic cell", + "cell", + "abnormal hematopoietic system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal hematopoietic cell morphology", + "secretory cell", + "Abnormal leukocyte count", + "abnormal cell", + "abnormal bone marrow morphology", + "abnormal platelet", + "abnormally decreased number of cell", + "bone element", + "abnormal myeloid cell morphology", + "serotonin secreting cell", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormal immune system morphology", + "bone cell", + "Abnormality of bone marrow cell morphology", + "Abnormal cellular immune system morphology", + "erythrocyte", + "bone marrow cell", + "platelet", + "abnormal bone marrow cell morphology", "abnormal number of anatomical enitites of type leukocyte", "Abnormality of blood and blood-forming tissues", - "Abnormal skeletal morphology", + "abnormal leukocyte morphology", "Pancytopenia", - "Abnormal cellular immune system morphology", - "abnormal skin of body", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal platelet", - "abnormal blood cell", - "Abnormal platelet morphology", - "abnormal skeletal system morphology", - "abnormal bone marrow morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal platelet count", - "abnormal bone marrow cell morphology", "Abnormal cellular phenotype", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type platelet", - "Abnormal cell morphology", - "abnormally decreased number of platelet", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type cell", + "leukocyte", "abnormal hematopoietic system", + "Abnormal platelet count", + "abnormal platelet morphology", + "material anatomical entity", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "motile cell", + "independent continuant", + "abnormally decreased number of anatomical entity", + "increased biological_process in independent continuant", + "changed biological_process rate in independent continuant", "entity", - "specifically dependent continuant", - "increased qualitatively inflammatory response in independent continuant", - "abnormal inflammatory response", - "Neoplasm by anatomical site", + "disconnected anatomical group", + "increased qualitatively biological_process in independent continuant", "Thrombocytopenia", - "quality", - "phenotype", - "Increased inflammatory response", - "phenotype by ontology source", - "Osteomyelitis", - "Multiple bilateral pneumothoraces", + "Abnormality of immune system physiology", + "viscus", + "abnormal inflammatory response", + "Abnormal inflammatory response", + "abnormal skeletal system morphology", "Abnormality of the musculoskeletal system", - "Abnormal lung morphology", - "Abnormal immune system morphology", + "Eukaryota", + "Abnormality of the integument", + "protein-containing material entity", "increased qualitatively biological_process", + "pleural sac", + "organ system subdivision", + "response to stress", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "material entity", + "biological_process", + "abnormal integument", + "abnormal biological_process", + "increased qualitatively inflammatory response", + "non-connected functional system", + "subdivision of tube", "abnormality of immune system physiology", - "abnormal myeloid cell morphology", - "increased inflammatory response in bone element", - "Abnormal musculoskeletal physiology", - "abnormal anatomical entity", - "abnormal immune system", - "abnormality of anatomical entity physiology", - "abnormal number of anatomical enitites of type anatomical entity", - "increased qualitatively response to stimulus", - "increased qualitatively biological_process in independent continuant", - "Abnormality of immune system physiology", - "Abnormality of the skin", + "multicellular organism", + "Abnormal myeloid cell morphology", + "changed biological_process rate", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "lateral structure", + "abnormal blood cell morphology", "Phenotypic abnormality", - "Recurrent respiratory infections", - "abnormal cell", - "abnormally decreased number of cell", - "Recurrent infections", - "abnormal hematopoietic system morphology", + "abnormal number of anatomical enitites of type cell", "increased inflammatory response in independent continuant", + "trunk", "abnormality of musculoskeletal system physiology", - "Abnormality of the immune system", - "continuant", - "abnormal respiratory system morphology", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal biological_process", - "Abnormality of bone marrow cell morphology", "increased inflammatory response", - "abnormal phenotype by ontology source", - "Abnormal inflammatory response", - "abnormal response to stress", - "All", - "Respiratory tract infection", + "tissue", + "continuant", + "skin of body", + "skeletal system", + "abnormal anatomical entity", + "occurrent", + "increased biological_process in bone element", + "Abnormal leukocyte morphology", + "response to stimulus", + "Abnormal skeletal morphology", "abnormal response to stimulus", - "abnormally decreased number of myeloid cell", - "abnormal blood cell morphology", - "increased biological_process", + "abnormal skin of body", + "Abnormal pleura morphology", + "musculoskeletal system", + "phenotype", + "abnormal phenotype by ontology source", "abnormal skeletal system", - "abnormal leukocyte morphology", - "abnormal pleura morphology", - "increased biological_process in independent continuant", - "changed biological_process rate in independent continuant", - "Abnormal myeloid cell morphology", - "increased biological_process in bone element", + "increased biological_process", + "hematopoietic system", "Abnormality of the skeletal system", - "abnormal biological_process in independent continuant", - "increased qualitatively inflammatory response", - "Unusual infection", - "Pneumothorax", + "increased qualitatively response to stimulus", + "anatomical structure", + "anatomical conduit", + "increased inflammatory response in bone element", + "abnormally decreased number of myeloid cell", + "compound organ", + "anatomical entity", + "Osteomyelitis", + "anucleate cell", + "phenotype by ontology source", + "Increased inflammatory response", + "quality", + "myeloid cell", + "abnormal cell morphology", + "immune system", + "root", + "inflammatory response", + "specifically dependent continuant", + "integument", + "eukaryotic cell", + "increased qualitatively inflammatory response in independent continuant", + "erythroid lineage cell", + "multicellular anatomical structure", + "anatomical system", + "Abnormality of thrombocytes", + "organ", + "organism", + "Respiratory tract infection", + "All", "abnormal lung morphology", - "changed biological_process rate", - "abnormal anatomical entity morphology", + "Abnormal lung morphology", + "abnormal anatomical entity morphology in the independent continuant", + "thoracic segment organ", + "anatomical collection", + "trunk region element", + "endoderm-derived structure", + "pair of lungs", + "blood cell", + "respiration organ", + "thoracic cavity element", "abnormal respiratory system", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal number of anatomical enitites of type anatomical entity", + "serous sac", + "Recurrent infections", + "organ part", + "Recurrent respiratory infections", + "respiratory system", + "Multiple bilateral pneumothoraces", + "respiratory airway", + "defense response", + "Eumetazoa", + "abnormal immune system morphology", + "Pneumothorax", + "tube", + "abnormal biological_process in independent continuant", + "Unusual infection", + "Abnormality of the immune system", + "multi-tissue structure", + "Metazoa", + "abnormal blood cell", + "abnormal response to stress", + "subdivision of trunk", "Abnormal respiratory system morphology", - "Abnormal leukocyte morphology", + "abnormal immune system", + "thoracic segment of trunk", + "abnormal respiratory system morphology", + "lung", + "subdivision of organism along main body axis", + "main body axis", + "abnormally decreased number of hematopoietic cell", + "serous membrane", "Abnormality of the respiratory system", - "abnormal platelet morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", "Recurrent lower respiratory tract infections", - "Abnormal pleura morphology", + "organism subdivision", + "respiratory tract", + "cellular organisms", + "Opisthokonta", + "body proper", + "abnormality of anatomical entity physiology", + "abnormal pleura morphology", + "lower respiratory tract", + "anatomical wall", + "mesoderm-derived structure", + "process", + "pleura", + "abnormal number of anatomical enitites of type myeloid cell", + "mixed endoderm/mesoderm-derived structure", + "abnormal bone marrow cell", + "Abnormal cell morphology", ], "has_phenotype_count": 5, "highlight": None, @@ -2448,30 +3878,6 @@ def search(): "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": ["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": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, { "id": "MONDO:0001083", "category": "biolink:Disease", @@ -2516,7 +3922,7 @@ def search(): "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": ["NCIT:C123229"], + "xref": ["NCIT:C123229", "Orphanet:3337"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -2525,546 +3931,1164 @@ def search(): "uri": None, "iri": None, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "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", "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:0000083", + "HP:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", + "HP:0002148", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", + "HP:0003076", + "HP:0002909", + "HP:0002049", ], "has_phenotype_label": [ "Osteomalacia", "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", - "Proteinuria", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Renal insufficiency", - "Hypercalciuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", ], "has_phenotype_closure": [ - "UPHENO:0068134", - "UPHENO:0068102", - "UPHENO:0051678", - "HP:0011280", - "UPHENO:0046344", - "HP:0000083", - "HP:0025142", - "UPHENO:0049874", - "HP:0000002", - "HP:0001507", - "UPHENO:0020584", - "UPHENO:0080351", - "UPHENO:0075159", - "UPHENO:0081423", - "HP:0004364", - "UPHENO:0068533", - "UPHENO:0081424", - "UPHENO:0082534", - "UPHENO:0051648", - "UPHENO:0068384", - "UPHENO:0081550", - "UPHENO:0051680", - "UPHENO:0068068", - "HP:0012337", - "UPHENO:0051630", - "HP:0033331", - "HP:0003165", - "UPHENO:0051936", - "UPHENO:0076285", - "UPHENO:0051612", - "HP:0001948", - "UPHENO:0068472", - "UPHENO:0086128", - "UPHENO:0051741", - "UPHENO:0068477", - "HP:0003076", - "UPHENO:0080659", + "CHEBI:33608", + "UPHENO:0068144", + "UPHENO:0068169", + "CHEBI:36587", + "CHEBI:24651", + "UPHENO:0068091", + "UPHENO:0051670", + "CHEBI:33575", + "UPHENO:0068495", + "CHEBI:33709", + "UPHENO:0046286", "UPHENO:0080658", + "CHEBI:32988", + "UPHENO:0068565", + "UPHENO:0051801", + "CHEBI:15841", + "CHEBI:50047", + "UPHENO:0068024", + "HP:0012610", + "UPHENO:0084542", + "UPHENO:0051659", + "UPHENO:0051619", + "UPHENO:0051714", + "CHEBI:35604", + "CHEBI:25741", + "UPHENO:0068079", + "CHEBI:36358", + "UPHENO:0051608", + "UPHENO:0051688", + "HP:0001995", + "HP:0004918", + "HP:0032943", + "HP:0025142", + "HP:0011279", + "HP:0002659", + "CHEBI:37247", "UPHENO:0068058", - "HP:0002653", - "UPHENO:0051635", - "UPHENO:0051712", - "UPHENO:0051640", - "UPHENO:0077826", + "CHEBI:33674", + "UPHENO:0051645", + "CHEBI:33296", + "CHEBI:33504", + "CHEBI:60242", + "UPHENO:0051958", + "CHEBI:26217", "UPHENO:0068247", - "UPHENO:0081547", - "UPHENO:0068064", - "UPHENO:0080638", - "UPHENO:0078589", - "UPHENO:0050116", - "UPHENO:0051628", - "UPHENO:0078628", + "GO:0055067", + "CHEBI:36914", + "HP:0010929", + "HP:0003081", + "UPHENO:0051849", + "CHEBI:26216", + "UPHENO:0068350", + "UPHENO:0051898", + "UPHENO:0034199", + "HP:0011017", + "UPHENO:0078640", + "UPHENO:0084537", + "UPHENO:0084472", + "GO:0006575", + "GO:0044255", + "UPHENO:0034319", + "CHEBI:27369", + "HP:0025354", + "GO:0032787", + "GO:0009437", + "GO:0006082", + "GO:0005575", + "HP:0012103", + "UPHENO:0006889", + "UPHENO:0050484", + "CHEBI:17126", + "GO:0005623", + "UPHENO:0082544", + "UPHENO:0049723", + "UPHENO:0068040", + "GO:0005622", + "GO:0005737", + "GO:0043226", + "HP:0011843", + "HP:0003234", + "UPHENO:0084541", + "HP:0010967", + "CHEBI:22860", + "CHEBI:35284", + "HP:0031980", + "HP:0003646", + "GO:0099568", + "GO:0006577", + "CHEBI:35352", + "UPHENO:0068442", + "GO:1901360", + "GO:1901564", + "GO:0006139", + "HP:0004359", + "GO:0046483", + "GO:0034641", + "HP:0004352", + "HP:0430071", + "CHEBI:33671", + "GO:0043231", + "CHEBI:33672", + "CHEBI:37622", + "CHEBI:24532", + "GO:0043436", + "CHEBI:33659", + "CHEBI:25699", + "HP:0004369", + "UPHENO:0068054", + "UPHENO:0051777", + "UPHENO:0078616", + "CHEBI:5686", + "CHEBI:33655", + "CHEBI:33636", + "CHEBI:33832", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "CHEBI:51143", + "CHEBI:25213", + "UPHENO:0049873", + "UPHENO:0068251", + "HP:0033354", "HP:0002157", - "HP:0100530", - "UPHENO:0076287", - "UPHENO:0068047", - "HP:0000818", - "HP:0000117", - "UPHENO:0051709", - "UPHENO:0051804", - "UPHENO:0051937", - "HP:0002749", + "CHEBI:25810", + "CHEBI:27171", + "CHEBI:38101", + "CHEBI:33833", + "GO:0071704", + "HP:0012072", + "GO:0006807", + "GO:0044237", + "UPHENO:0049748", + "UPHENO:0051588", + "CHEBI:35875", + "HP:0011042", + "CHEBI:25367", + "GO:0072521", + "UPHENO:0050116", + "UPHENO:0068538", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "CHEBI:35406", "UPHENO:0034253", - "UPHENO:0051960", - "UPHENO:0068144", - "UPHENO:0068174", - "HP:0012591", - "HP:0001939", - "UPHENO:0086132", - "HP:0010876", - "HP:0003077", - "HP:0003110", - "BFO:0000002", - "UPHENO:0002832", - "HP:0033127", - "HP:0012599", - "HP:0002150", - "HP:0011842", - "UPHENO:0002332", - "HP:0000114", - "UPHENO:0068104", - "UPHENO:0002642", - "UPHENO:0001001", "UPHENO:0034351", - "UPHENO:0084654", - "HP:0000079", - "HP:0004322", - "UPHENO:0052038", - "UPHENO:0068054", - "UPHENO:0051186", - "UPHENO:0082875", - "HP:0003111", - "UPHENO:0080643", - "UPHENO:0002964", - "HP:0000119", - "UPHENO:0076289", - "HP:0003330", - "UPHENO:0068971", + "UPHENO:0051960", + "UPHENO:0034217", + "HP:0100529", "UPHENO:0050080", - "UPHENO:0082536", - "UPHENO:0051864", - "HP:0032245", + "UPHENO:0051937", + "CHEBI:24870", + "UPHENO:0049618", + "CHEBI:33259", + "HP:0012531", + "GO:0050801", + "HP:0010932", + "CHEBI:24867", + "HP:0000093", + "GO:0055062", + "UPHENO:0050121", + "HP:0002148", + "UPHENO:0046356", + "CHEBI:26708", + "CHEBI:35605", + "GO:0110165", + "UPHENO:0051887", + "UPHENO:0051866", + "CHEBI:22314", + "UPHENO:0051186", + "CHEBI:36963", + "GO:0009987", + "CHEBI:33285", + "UBERON:0000179", + "UBERON:0002193", + "HP:0004354", + "UBERON:0004120", "UPHENO:0002411", - "UPHENO:0046362", - "UPHENO:0049723", - "HP:0000938", - "BFO:0000001", - "HP:0000924", - "UPHENO:0052116", - "UPHENO:0051668", - "HP:0000118", - "HP:0004360", + "CHEBI:33256", + "UBERON:0000025", + "UBERON:0001231", + "UBERON:0005173", + "UBERON:0007684", + "UBERON:0004819", + "HP:0003011", + "HP:0001324", + "UPHENO:0068134", + "UBERON:0011143", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0054299", + "CHEBI:17234", + "HP:0001942", + "UPHENO:0076294", + "UPHENO:0068491", + "CHEBI:36360", + "CHEBI:33675", + "UPHENO:0002442", "UPHENO:0034391", - "UPHENO:0081546", + "UPHENO:0010763", + "UBERON:0000915", + "UPHENO:0010795", + "UPHENO:0082761", + "UPHENO:0082543", + "UBERON:0000483", + "HP:0002909", + "UPHENO:0002642", + "HP:0003110", + "CHEBI:36359", + "HP:0003111", + "CHEBI:33318", + "CHEBI:24431", + "UPHENO:0051766", + "GO:0006631", + "UPHENO:0082835", + "UPHENO:0067999", + "HP:0000124", + "CHEBI:16646", + "UPHENO:0046283", + "HP:0011277", + "CHEBI:33302", + "HP:0010996", + "UBERON:8450002", + "GO:0044281", + "UBERON:0001088", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0049874", + "BFO:0000003", + "PR:000050567", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:24835", + "UPHENO:0052116", "HP:0004348", "HP:0000001", - "UPHENO:0080352", - "UPHENO:0068442", - "HP:0000093", - "UPHENO:0076692", - "HP:0003117", - "PATO:0000001", - "UPHENO:0002442", - "UPHENO:0068049", - "UPHENO:0049587", - "UPHENO:0001002", - "UPHENO:0051763", - "UPHENO:0082539", - "UPHENO:0082538", - "HP:0032369", - "UPHENO:0075696", - "HP:0001871", - "UPHENO:0051686", - "UPHENO:0001005", - "HP:0100529", - "UPHENO:0076286", - "UPHENO:0004459", + "HP:0004360", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", "UPHENO:0082834", + "BFO:0000040", + "HP:0012603", "HP:0004349", - "UPHENO:0082541", - "HP:0100511", - "HP:0031415", - "UPHENO:0051900", - "UPHENO:0003116", - "UPHENO:0068538", - "UPHENO:0051847", - "HP:0012211", - "UPHENO:0049618", - "UPHENO:0081548", - "UPHENO:0076703", - "HP:0430071", - "BFO:0000020", - "UPHENO:0001003", - "UPHENO:0082540", - "UPHENO:0046286", - "UPHENO:0049628", - "UPHENO:0002536", - "UPHENO:0048707", - "HP:0011849", - "UPHENO:0051670", - "HP:0011277", + "HP:0003774", + "CHEBI:23906", + "HP:0002749", + "UPHENO:0002320", "UPHENO:0084653", - "UPHENO:0048763", - "HP:0001992", - "HP:0002148", - "UPHENO:0069254", + "UBERON:0009773", + "UPHENO:0086132", + "UPHENO:0051635", + "UBERON:0000383", + "UPHENO:0001005", + "UPHENO:0081550", + "GO:0044238", + "UPHENO:0001001", + "BFO:0000004", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "HP:0002086", + "HP:0003119", + "CHEBI:26401", + "UBERON:0000062", + "UPHENO:0084654", "UPHENO:0075902", - "UPHENO:0066739", - "UPHENO:0034217", - "HP:0000077", - "HP:0020129", - "UPHENO:0002803", - "HP:0010935", - "HP:0000124", - "UPHENO:0000541", - "UPHENO:0066943", - "HP:0011843", - "UPHENO:0082943", - "UPHENO:0068313", - "HP:0031980", - "HP:0002757", - "HP:0012531", - "UPHENO:0051739", - "HP:0002659", - "HP:0100508", + "UPHENO:0068036", + "CHEBI:36915", + "UPHENO:0050113", + "UPHENO:0051686", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "CHEBI:33250", + "HP:0000117", + "UBERON:0002113", + "HP:0000079", + "HP:0001507", + "CHEBI:37577", + "GO:0006725", + "HP:0012591", + "CHEBI:33241", + "HP:0002653", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", "UPHENO:0081440", - "HP:0032943", - "HP:0002748", - "UPHENO:0000543", - "UPHENO:0068491", - "HP:0012213", - "UPHENO:0075195", - "HP:0033354", - "UPHENO:0068495", - "UPHENO:0024906", - "UPHENO:0079536", - "HP:0012072", - "UPHENO:0082835", - "UPHENO:0068040", - "HP:0040156", + "UPHENO:0086908", + "UBERON:0002204", + "UBERON:0005177", + "UPHENO:0051847", + "CHEBI:16670", + "HP:0004325", + "CHEBI:36916", + "UPHENO:0079822", + "CHEBI:33635", + "UBERON:0000061", + "GO:0006629", + "GO:0006144", + "HP:0012606", + "UBERON:0001015", + "UBERON:0006314", + "UPHENO:0051736", + "UPHENO:0050791", + "HP:0000118", + "UPHENO:0078646", + "UPHENO:0034248", + "UBERON:0000178", + "UPHENO:0051763", + "GO:0008150", + "UBERON:0005090", + "UBERON:0000468", + "UBERON:0002417", + "UPHENO:0078592", + "GO:0008152", + "HP:0002900", + "UPHENO:0080556", + "UPHENO:0076289", + "CHEBI:23367", + "UPHENO:0051678", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082538", + "UPHENO:0082539", + "UBERON:0000489", + "UPHENO:0050433", + "BFO:0000001", + "HP:0001871", + "HP:0003330", + "UBERON:0005178", + "UBERON:0011216", + "GO:0019752", + "UPHENO:0034276", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0002100", + "UBERON:0001434", + "CHEBI:33917", + "UPHENO:0054261", + "UPHENO:0001003", + "BFO:0000015", + "CHEBI:33273", + "UBERON:0000467", + "UBERON:0004765", + "HP:0012599", + "UPHENO:0078554", + "UPHENO:0002332", + "GO:0009112", + "UPHENO:0075696", + "HP:0011842", + "HP:0002150", + "UBERON:0001630", + "HP:0033127", + "UBERON:0004211", + "CHEBI:25696", + "UBERON:0001062", + "UPHENO:0001002", "UPHENO:0046284", + "GO:0055086", + "HP:0001947", + "UBERON:0003103", "UPHENO:0068110", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0003149", + "CHEBI:33238", + "UPHENO:0049628", + "GO:0040007", + "CHEBI:26082", + "HP:0001939", + "GO:0005739", + "HP:0010966", + "CHEBI:35381", + "UPHENO:0077821", + "CHEBI:36357", + "BFO:0000002", + "GO:0043227", + "UBERON:0004111", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0020129", "UPHENO:0046348", "UPHENO:0066927", - "UPHENO:0081544", - "UPHENO:0068089", - "UPHENO:0051930", + "HP:0006530", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", + "HP:0001992", + "UPHENO:0051709", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0000541", + "UBERON:0000479", + "HP:0012337", + "UBERON:0000064", + "UBERON:0011676", + "CHEBI:26469", + "UBERON:0000072", + "UBERON:0009569", + "CHEBI:72695", + "UPHENO:0068064", + "CHEBI:64709", + "CHEBI:38166", + "UBERON:0003914", + "UPHENO:0079536", + "UPHENO:0034149", + "UPHENO:0024906", + "HP:0010930", + "CHEBI:33304", + "UBERON:0013702", "HP:0003355", - "UPHENO:0015280", - "UPHENO:0082542", - "UPHENO:0012541", - "HP:0002152", - "HP:0002909", - "UPHENO:0077821", - "HP:0032180", - "UPHENO:0068091", - "UPHENO:0068169", - "UPHENO:0078554", - "UPHENO:0079534", - "UPHENO:0068565", - "UPHENO:0076293", - "UPHENO:0049904", - "UPHENO:0046291", - "UPHENO:0068251", + "UPHENO:0019970", + "UPHENO:0078555", + "UBERON:0005172", + "GO:0055080", + "UBERON:0006555", + "HP:0012622", + "CHEBI:78616", + "HP:0000077", + "CHEBI:22313", + "UBERON:0004122", + "HP:0010935", + "CHEBI:25414", + "UPHENO:0081547", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "UBERON:0013701", + "UBERON:0001285", "HP:0001510", - "UPHENO:0049873", - "UPHENO:0051801", - "UPHENO:0046281", - "HP:0012212", - "UPHENO:0048711", - "HP:0003119", - ], - "has_phenotype_closure_label": [ - "Hypercalciuria", - "non-functional kidney", - "non-functional anatomical entity", - "Pain", - "Constitutional symptom", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "abnormal anatomical entity morphology in the independent continuant", - "Growth delay", - "Growth abnormality", - "Short stature", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "Abnormality of body height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of anatomical entity", - "increased level of chemical entity in blood serum", - "Alkalosis", - "Alkalemia", - "increased level of parathyroid hormone in independent continuant", - "Abnormality of acid-base homeostasis", - "Acute phase response", - "Azotemia", - "abnormal blood serum chemical entity level", - "abnormal acid bodily fluid level", - "Abnormal homeostasis", - "abnormal role blood serum level", - "increased level of parathyroid hormone in blood", - "Abnormal circulating protein concentration", - "abnormal blood nitrogen molecular entity level", - "abnormal blood parathyroid hormone level", - "Hyperproteinemia", - "increased blood serum role level", - "abnormal independent continuant parathyroid hormone level", - "increased bodily fluid base level", - "Elevated circulating parathyroid hormone level", - "increased level of glucose in urine", + "CL:0000000", + "UPHENO:0004536", + "HP:0011804", + "GO:0032501", + "UPHENO:0082794", + "HP:0000083", + "UPHENO:0046344", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:16541", + "GO:0050878", + "UPHENO:0051704", + "HP:0011280", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "CHEBI:22984", + "CHEBI:33595", + "UPHENO:0066781", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0051712", + "GO:0042592", + "UBERON:0034925", + "UPHENO:0081546", + "UPHENO:0051640", + "GO:0065007", + "CHEBI:22563", + "UBERON:0002075", + "UPHENO:0086172", + "GO:0065008", + "CHEBI:35281", + "BFO:0000020", + "HP:0011032", + "UPHENO:0050619", + "UPHENO:0020584", + "GO:0043229", + "GO:0033500", + "UPHENO:0049709", + "UBERON:0002048", + "UBERON:0001005", + "HP:0004323", + "UBERON:0000171", + "UPHENO:0034438", + "CHEBI:51151", + "UBERON:0005181", + "PATO:0000001", + "HP:0002088", + "UBERON:0001004", + "HP:0012598", + "UBERON:0000475", + "UPHENO:0087433", + "UPHENO:0020748", + "UBERON:0001558", + "CHEBI:83821", + "HP:0002206", + "HP:0012252", + "UPHENO:0052008", + "UPHENO:0076299", + "CHEBI:27226", + "UBERON:0004119", + "UPHENO:0068089", + "UBERON:0000170", + "HP:0032180", + "UBERON:0000065", + "HP:0003076", + "UPHENO:0068102", + "UPHENO:0000543", + "UBERON:0013522", + "UPHENO:0076286", + "GO:0098771", + "UPHENO:0004459", + "CHEBI:17544", + "GO:0048878", + "UPHENO:0080555", + "HP:0011015", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", + "HP:0011014", + "CHEBI:50860", + "GO:0042593", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0081544", + "CHEBI:15693", + "CHEBI:18133", + "UPHENO:0049904", + "HP:0001943", + "CHEBI:29103", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804", + ], + "has_phenotype_closure_label": [ + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid", + "increased level of carboxylic acid in independent continuant", + "abnormal amino acid level", + "increased level of monosaccharide in urine", + "abnormal urine glucose level", + "increased level of glucose in independent continuant", + "amide", "abnormal independent continuant protein polypeptide chain level", - "abnormal vitamin metabolic process", - "abnormal independent continuant glucose level", - "increased level of lipid", - "abnormal independent continuant lipid level", - "abnormal hormone blood level", - "Glycosuria", - "abnormal lipid metabolic process", - "abnormal lipid level", - "Abnormal circulating metabolite concentration", - "increased level of carboxylic acid in urine", - "abnormal chemical homeostasis", - "abnormal independent continuant monoatomic ion level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal role urine level", - "Hypophosphatemia", - "abnormal independent continuant protein level", - "abnormal genitourinary system", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "Renal phosphate wasting", - "Abnormality of the urinary system physiology", "increased level of protein polypeptide chain in urine", - "increased blood role level", - "abnormal blood phosphate level", - "increased level of parathyroid hormone in blood serum", - "abnormal small molecule metabolic process", - "Abnormal bone ossification", - "abnormal multicellular organism chemical entity level", - "Osteomalacia", - "increased level of protein", - "abnormal anatomical entity morphology", - "decreased height of the multicellular organism", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "increased level of organic acid in independent continuant", - "abnormal primary metabolic process", - "abnormal urine phosphate level", - "Abnormal circulating calcium-phosphate regulating hormone concentration", + "organic amino compound", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "macromolecule", + "peptide", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "Hyperuricosuria", + "increased level of uric acid in urine", + "organic anion", + "polyatomic anion", + "oxide", + "abnormal independent continuant hydrogencarbonate level", + "abnormal hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Abnormality of urine bicarbonate level", + "anion", + "oxoanion", + "Abnormal urine pH", + "Pain", + "Constitutional symptom", + "carbon oxoanion", + "abnormality of musculoskeletal system physiology", + "s-block molecular entity", + "abnormal blood potassium atom level", + "monoatomic cation", + "Abnormal blood monovalent inorganic cation concentration", + "potassium molecular entity", + "abnormal monoatomic cation homeostasis", + "potassium(1+)", + "alkali metal molecular entity", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "inorganic ion", + "monoatomic cation homeostasis", + "monoatomic monocation", + "monovalent inorganic cation", + "abnormal blood potassium(1+) level", + "decreased level of potassium atom in blood", + "Abnormal blood cation concentration", + "potassium atom", + "abnormal potassium atom level", + "abnormal independent continuant potassium atom level", + "abnormal urine potassium atom level", + "cell", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "intracellular membrane-bounded organelle", + "carnitine metabolic process", + "abnormal amino acid derivative level", + "organelle", + "Abnormal circulating fatty-acid concentration", + "zwitterion", + "lipid metabolic process", + "cellular modified amino acid metabolic process", + "organic acid metabolic process", + "cellular lipid metabolic process", + "amino acid derivative", "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "abnormal hematopoietic system", - "increased level of protein in independent continuant", + "quaternary nitrogen compound", + "Hyperchloremic metabolic acidosis", + "onium betaine", + "intracellular organelle", + "membrane-bounded organelle", + "Generalized aminoaciduria", + "carboxamide", + "oxoacid metabolic process", + "amino-acid betaine metabolic process", + "hydrogencarbonate", + "fatty acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "abnormal carnitine metabolic process", + "abnormal independent continuant potassium(1+) level", + "organonitrogen compound", "increased level of nitrogen molecular entity in blood", - "abnormal amino acid level", + "Hypouricemia", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "abnormal blood uric acid level", + "Abnormal circulating nitrogen compound concentration", + "Hypokalemia", + "mitochondrion", + "Decreased circulating purine concentration", + "cyclic compound", + "organic molecule", + "amino acid", + "purine nucleobase metabolic process", "Abnormal urine protein level", - "abnormal homeostatic process", - "abnormal bone element mass density", - "abnormal blood protein polypeptide chain level", - "abnormal urine chemical entity level", - "Increased susceptibility to fractures", - "continuant", - "quality", - "Abnormal circulating hormone concentration", - "Reduced bone mineral density", - "abnormal independent continuant calcium atom level", - "Abnormal urine phosphate concentration", - "abnormal skeletal system", - "anatomical entity dysfunction in independent continuant", - "increased level of chemical entity", - "abnormal protein level", - "increased level of chemical entity in blood plasma", + "Abnormal circulating purine concentration", + "heterobicyclic compound", + "organic heterocyclic compound", + "nucleobase-containing compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "obsolete heterocycle metabolic process", + "small molecule metabolic process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular metabolic process", + "abnormal primary metabolic process", + "Abnormal circulating organic compound concentration", + "organonitrogen heterocyclic compound", + "organic heteropolycyclic compound", + "increased level of organic molecular entity in independent continuant", + "heteroarene", + "cation", + "decreased level of purines", + "abnormal blood nitrogen molecular entity level", + "elemental potassium", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", "increased level of nitrogen molecular entity in independent continuant", - "abnormal role bodily fluid level", - "decreased level of phosphate in blood", - "phenotype", + "molecule", + "nucleobase metabolic process", + "decreased level of potassium atom in independent continuant", + "purine-containing compound metabolic process", + "increased level of chemical entity in blood", + "decreased level of uric acid in blood", + "imidazopyrimidine", + "polycyclic compound", + "nitrogen molecular entity", + "aromatic compound", + "increased level of organic acid in urine", + "amino-acid betaine", + "cellular process", + "Hypophosphatemic rickets", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "decreased level of chemical entity in blood", + "Azotemia", + "decreased level of uric acid in independent continuant", + "abnormal blood monoatomic ion level", + "organic cyclic compound metabolic process", + "ion", + "primary amide", + "elemental molecular entity", + "inorganic ion homeostasis", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "monoatomic ion", + "phosphate ion homeostasis", + "Abnormal blood ion concentration", + "sodium atom", + "abnormal independent continuant sodium atom level", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormal urine sodium concentration", + "Abnormal urine potassium concentration", + "alkali metal atom", + "organooxygen compound", + "renal tubule", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "carbohydrates and carbohydrate derivatives", + "increased independent continuant acid level", + "chemical entity", + "epithelium", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "increased independent continuant role level", + "Renal tubular dysfunction", "increased independent continuant base level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "dipolar compound", + "muscle organ", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "cellular_component", + "bicyclic compound", + "decreased muscle organ strength", + "decreased role blood level", + "musculature", + "polypeptide", + "organic ion", "Abnormality of bone mineral density", - "Abnormality of the urinary system", - "increased level of protein in blood", - "Phenotypic abnormality", - "increased level of calcium atom in independent continuant", + "anatomical structure", + "anatomical conduit", + "increased level of chemical entity in independent continuant", + "carbohydrate homeostasis", + "abdominal segment of trunk", + "musculature of body", + "abnormal calcium atom level", + "decreased anatomical entity strength", "Bone pain", - "Abnormality of urine homeostasis", - "abnormal phosphate level", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "abnormality of renal system physiology", - "increased level of monosaccharide in urine", - "Abnormal skeletal morphology", - "abnormal hormone independent continuant level", - "increased level of lipid in independent continuant", - "abnormal phenotype by ontology source", - "abnormally decreased functionality of the nephron tubule", - "abnormality of anatomical entity physiology", - "decreased size of the multicellular organism", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "Abnormality of urine calcium concentration", - "abnormal anatomical entity mass density", - "Hyperlipidemia", - "abnormal vitamin D level", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal renal system", "Abnormality of the upper urinary tract", - "decreased level of chemical entity in blood", + "decreased anatomical entity mass", + "Proximal renal tubular acidosis", + "abdomen", + "heteropolycyclic compound", + "growth", "phenotype by ontology source", - "decreased level of chemical entity", - "Abnormality of blood and blood-forming tissues", - "Abnormal blood phosphate concentration", - "Abnormal glomerular filtration rate", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "increased level of calcium atom in urine", - "abnormality of kidney physiology", - "abnormal kidney", - "Proximal tubulopathy", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "entity", - "abnormal blood lipid level", - "Abnormal renal physiology", - "abnormally decreased functionality of the anatomical entity", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "hydrogen molecular entity", + "nephron tubule", + "Abnormality of body weight", + "Growth abnormality", + "nephron epithelium", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "phosphorus molecular entity", + "abnormal independent continuant monoatomic ion level", + "excretory system", "increased level of amino acid in independent continuant", - "abnormal phosphate ion homeostasis", - "increased level of vitamin D", - "Proteinuria", + "thoracic segment of trunk", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "abnormal chemical entity level", + "polyatomic entity", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "calcium atom", + "uriniferous tubule", + "cytoplasm", + "carnitine", + "musculoskeletal system", "abnormal upper urinary tract", - "increased blood serum base level", - "Abnormality of the kidney", - "Renal tubular dysfunction", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal musculoskeletal physiology", - "abnormality of musculoskeletal system physiology", - "All", - "Recurrent fractures", - "Rickets", + "main group molecular entity", + "abnormality of kidney physiology", + "increased level of calcium atom in urine", "Renal insufficiency", - "High serum calcitriol", + "polyatomic ion", + "cytoplasmic region", + "Dehydration", "abnormal role blood level", - "abnormal monoatomic ion homeostasis", + "aldohexose", + "cellular anatomical entity", + "Renal phosphate wasting", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "obsolete monovalent inorganic cation homeostasis", + "pnictogen molecular entity", + "homeostatic process", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "organochalcogen compound", + "anatomical collection", + "All", + "abnormal lung morphology", + "material entity", + "upper urinary tract", + "Abnormality of urine homeostasis", + "organic acid", + "ammonium betaine", + "Abnormal circulating metabolite concentration", + "ossification", + "decreased role independent continuant level", + "increased level of calcium atom in independent continuant", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "Aciduria", + "Abnormality of the urinary system", + "abnormal anatomical entity", + "nephron", + "protein polypeptide chain", + "Abnormal circulating nucleobase concentration", + "continuant", + "tissue", "Abnormality of metabolism/homeostasis", - "Osteopenia", - "Abnormality of vitamin D metabolism", - "Aminoaciduria", - "increased level of lipid in blood", - "Abnormal circulating organic compound concentration", - "abnormal vitamin D metabolic process", - "increased independent continuant hormone level", - "abnormal urine amino acid level", - "specifically dependent continuant", + "anatomical entity fibrosis", + "entity", + "Decreased bone element mass density", + "anatomical entity", + "decreased level of phosphate in independent continuant", + "Abnormal skeletal morphology", + "alkaline earth metal atom", + "heterocyclic compound", + "skeletal system", + "abnormal biological_process", + "abnormal role bodily fluid level", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "nucleobase-containing small molecule metabolic process", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "alkali metal cation", + "abnormal multicellular organism chemical entity level", + "phosphate", + "abnormal small molecule metabolic process", + "abnormal renal system", + "abnormality of anatomical entity mass", + "Decreased body weight", + "genitourinary system", + "atom", + "abnormal bone element mass density", + "Rickets", + "hemolymphoid system", + "obsolete cellular aromatic compound metabolic process", + "abnormal blood phosphate level", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "multicellular anatomical structure", + "inorganic cation", + "Abnormal cellular physiology", + "organic substance metabolic process", + "increased level of chemical entity", + "p-block molecular entity", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", "abnormal metabolite independent continuant level", - "increased level of carboxylic acid in independent continuant", - "increased level of calcitriol in independent continuant", - "increased independent continuant role level", - "abnormal endocrine system", - "abnormal independent continuant carboxylic acid level", - "abnormal blood plasma chemical entity level", - "increased bodily fluid role level", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "obsolete cell", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "non-functional kidney", + "bone element", + "Bicarbonate-wasting renal tubular acidosis", + "organism substance", + "Glycosuria", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "Abnormal bone ossification", + "increased level of potassium atom in urine", + "blood", + "phenotype", + "oxopurine", + "renal system", + "process", + "metal cation", "abnormal role independent continuant level", - "increased level of organic molecular entity in independent continuant", + "abnormal growth", + "independent continuant", + "abnormality of muscle organ physiology", + "Growth delay", + "abnormal purine nucleobase metabolic process", + "purines", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "oxoacid derivative", + "trunk", + "abnormal urine phosphate level", + "bodily fluid", + "Abnormal glucose homeostasis", + "muscle structure", + "material anatomical entity", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "occurrent", + "organ", + "Hyperchloremic acidosis", + "organic cyclic compound", + "Abnormal bone structure", + "organic heterobicyclic compound", + "abnormal independent continuant carbohydrate level", + "skeletal element", + "cavitated compound organ", + "kidney", + "Weight loss", + "chalcogen molecular entity", + "Abnormal renal physiology", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "carbon group molecular entity", + "Decreased anatomical entity mass density", + "main group element atom", + "metabolic process", + "increased level of purines in independent continuant", + "intracellular anatomical structure", + "heteroatomic molecular entity", + "organic oxo compound", + "abnormal metabolic process", + "excreta", + "abnormal acid bodily fluid level", + "organism subdivision", + "respiratory tract", + "excretory tube", + "abdomen element", + "Acidosis", + "lateral structure", + "trunk region element", + "tube", + "organic aromatic compound", + "Abnormality of acid-base homeostasis", + "Metabolic acidosis", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", "abnormal urine calcium atom level", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", - "Decreased glomerular filtration rate", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", - "increased level of organic acid in urine", - "increased level of glucose in independent continuant", - "Abnormal urine carboxylic acid level", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "subdivision of organism along main body axis", + "glucose", + "aldose", + "main body axis", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "carboxylic acid metabolic process", "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", + "abnormal cell", "increased level of chemical entity in urine", + "abnormal kidney", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "increased level of glucose in urine", + "body proper", + "oxoacid", + "Osteomalacia", + "delayed biological_process", + "delayed growth", + "abnormal sodium atom level", + "thoracic segment organ", + "non-functional anatomical entity", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "Hypercalciuria", + "uric acid", + "metal atom", + "Decreased anatomical entity mass", + "s-block element atom", + "abnormal regulation of body fluid levels", + "abnormal nucleobase metabolic process", "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "abnormal calcium atom level", - "Generalized aminoaciduria", - "increased independent continuant acid level", - "Aciduria", - "increased level of calcitriol in blood", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "Abnormal metabolism", - "abnormal metabolic process", - "Abnormal circulating lipid concentration", - "Abnormality of vitamin metabolism", - "Abnormality of the endocrine system", + "Abnormality of the skeletal system", + "lung", + "Abnormality of fluid regulation", + "oxygen molecular entity", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "abnormality of multicellular organism mass", + "subdivision of tube", + "glucose homeostasis", + "monosaccharide", + "abnormal anatomical entity morphology in the independent continuant", + "endoderm-derived structure", + "regulation of biological quality", + "pair of lungs", + "biological_process", + "increased bodily fluid role level", + "carbohydrate", + "hematopoietic system", + "multicellular organism", + "thoracic cavity element", + "abnormal cellular metabolic process", + "regulation of body fluid levels", + "abnormal respiratory system", + "epithelial tube", + "respiratory system", + "respiratory airway", + "Bicarbonaturia", + "increased bodily fluid acid level", + "respiration organ", + "lung fibrosis", + "monocarboxylic acid metabolic process", + "viscus", + "abnormal respiratory system morphology", + "abnormal urine sodium atom level", + "lower respiratory tract", + "biological regulation", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "Abnormal urine metabolite level", + "decreased level of amino-acid betaine", + "abnormal carbohydrate homeostasis", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "organonitrogen compound metabolic process", + "Abnormal blood glucose concentration", + "abnormal monocarboxylic acid metabolic process", + "chemical homeostasis", + "organic molecular entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "abnormal independent continuant glucose level", + "hexose", + "heteroorganic entity", ], - "has_phenotype_count": 17, + "has_phenotype_count": 29, "highlight": None, "score": None, }, { - "id": "MONDO:0014275", + "id": "MONDO:0060779", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", + "name": "acquired Fanconi syndrome", "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", "OMIM:615605", "UMLS:C3810100"], + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "xref": ["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": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "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", "OMIM:615605", "UMLS:C3810100"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, @@ -3106,1152 +5130,1576 @@ def search(): "Low-molecular-weight proteinuria", ], "has_phenotype_closure": [ - "UPHENO:0051801", "UPHENO:0068565", + "UPHENO:0051801", + "UPHENO:0068247", + "CHEBI:16541", + "CHEBI:15841", + "HP:0000093", + "CHEBI:16670", + "UPHENO:0051930", + "CHEBI:36586", "UPHENO:0068169", - "HP:0032943", - "HP:0001992", - "UPHENO:0068144", - "UPHENO:0046286", - "UPHENO:0051670", - "HP:0040156", + "CHEBI:36587", + "CHEBI:24651", + "UPHENO:0068091", "HP:0031980", + "UPHENO:0051670", + "CHEBI:50047", + "CHEBI:33575", "HP:0012072", + "HP:0032943", "UPHENO:0068495", - "UPHENO:0012541", - "HP:0000002", + "CHEBI:33709", + "HP:0003355", + "UPHENO:0046286", + "UPHENO:0081424", + "UPHENO:0069254", "UPHENO:0068971", "UPHENO:0075159", - "UPHENO:0081424", - "HP:0020129", - "UPHENO:0002803", + "UBERON:0000489", "HP:0012211", - "UPHENO:0069254", + "UBERON:0009569", + "UBERON:0013701", + "UBERON:0011676", + "UBERON:0005173", + "UBERON:0000916", "UPHENO:0075902", - "UPHENO:0086128", - "HP:0010935", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0075195", + "UPHENO:0086132", + "UPHENO:0052116", + "CHEBI:18133", + "CHEBI:17234", + "CHEBI:15693", + "UPHENO:0081544", + "CHEBI:35381", "HP:0000077", - "HP:0000083", - "HP:0003076", - "UPHENO:0080659", - "UPHENO:0080658", + "CHEBI:78616", + "CHEBI:33674", "UPHENO:0068058", - "UPHENO:0075195", - "HP:0033354", + "UBERON:0005055", + "CHEBI:32988", + "UPHENO:0002411", + "HP:0002981", + "CHEBI:35352", + "UBERON:0002193", + "CHEBI:33675", + "UPHENO:0076740", + "UPHENO:0082467", + "UPHENO:0079534", + "CHEBI:50860", + "CHEBI:33661", + "UPHENO:0001002", + "UPHENO:0068064", + "CHEBI:72695", + "GO:0008150", + "UPHENO:0077826", + "BFO:0000004", + "UPHENO:0051753", + "UPHENO:0068346", "UPHENO:0051635", + "UBERON:0001977", + "HP:0004364", + "UPHENO:0078550", + "HP:0430071", + "BFO:0000020", + "UPHENO:0068491", + "UPHENO:0012541", + "CHEBI:36360", "UPHENO:0051640", - "UPHENO:0079873", - "UPHENO:0076727", - "UPHENO:0081423", - "UPHENO:0082449", - "UPHENO:0041226", - "UPHENO:0020041", - "UPHENO:0075952", - "UPHENO:0068064", - "HP:0002157", - "HP:0012100", - "HP:0002748", - "UPHENO:0077821", - "HP:0011277", - "UPHENO:0086956", - "UPHENO:0051630", - "UPHENO:0076285", - "UPHENO:0068251", - "UPHENO:0082543", - "UPHENO:0002411", - "UPHENO:0082536", - "UPHENO:0068091", - "HP:0032180", + "UPHENO:0081546", + "HP:0004360", + "CHEBI:51143", + "UPHENO:0068049", + "GO:0008152", + "CHEBI:36962", + "UPHENO:0002830", "UPHENO:0080351", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0004459", "UPHENO:0076286", - "UPHENO:0079534", - "UPHENO:0051894", - "HP:0003259", + "HP:0000002", + "HP:0033354", + "HP:0002157", + "CHEBI:55370", + "UBERON:8450002", + "CHEBI:38261", + "UPHENO:0082542", + "HP:0000119", + "PR:000050567", + "BFO:0000003", "UPHENO:0051763", - "UPHENO:0003070", - "UPHENO:0068190", - "UPHENO:0041258", - "UPHENO:0051847", - "UPHENO:0049874", - "UPHENO:0068491", + "CHEBI:33302", + "CHEBI:33256", + "CHEBI:23443", + "CHEBI:24532", + "CHEBI:37622", + "UPHENO:0001001", + "CHEBI:16646", + "CHEBI:38304", + "UPHENO:0076703", + "CHEBI:38101", + "UPHENO:0081550", + "UPHENO:0041573", + "UPHENO:0086956", + "UPHENO:0077821", + "CHEBI:36357", + "UPHENO:0051894", + "CHEBI:23367", + "HP:0003076", "UPHENO:0000543", - "UPHENO:0068049", + "UPHENO:0041098", + "UBERON:0004709", + "HP:0011844", + "UPHENO:0051686", + "UPHENO:0001005", + "CHEBI:33832", + "UBERON:0000468", + "HP:0012100", + "CHEBI:24431", + "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0081547", + "CHEBI:33595", + "UPHENO:0068442", + "CHEBI:36963", + "UPHENO:0000541", + "HP:0012337", + "UPHENO:0082536", + "HP:0032180", + "HP:0001992", + "UBERON:0002390", + "UBERON:0010000", "UPHENO:0068089", - "HP:0001942", - "HP:0001507", - "UPHENO:0031193", - "HP:0000118", - "UPHENO:0001001", - "UPHENO:0082538", "UPHENO:0082539", + "UBERON:0004120", + "UPHENO:0068538", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0068144", + "UBERON:0010707", + "HP:0040064", "BFO:0000001", - "UPHENO:0000541", - "UPHENO:0052116", - "UPHENO:0051668", - "HP:0000924", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0001003", + "HP:0006487", + "UPHENO:0076692", "UPHENO:0002536", - "HP:0012337", - "UPHENO:0078550", - "HP:0004364", - "UPHENO:0076289", - "UPHENO:0051753", - "UPHENO:0068346", - "HP:0003126", - "HP:0001871", - "UPHENO:0075696", - "BFO:0000002", - "HP:0003110", - "UPHENO:0001005", - "UPHENO:0051686", - "UPHENO:0079536", - "BFO:0000020", - "HP:0430071", - "UPHENO:0001002", - "HP:0000940", - "UPHENO:0081546", - "HP:0004360", + "UBERON:0010363", + "HP:0001942", + "HP:0000118", + "UBERON:0000178", + "GO:0040007", + "UPHENO:0031193", "HP:0001941", - "UPHENO:0001003", - "HP:0000001", - "HP:0004348", - "UPHENO:0051900", - "UPHENO:0041573", - "UPHENO:0081550", "UPHENO:0051804", - "HP:0001939", - "UPHENO:0077858", - "UPHENO:0068247", - "UPHENO:0077826", - "UPHENO:0002332", - "HP:0012599", - "UPHENO:0041610", - "HP:0033127", - "HP:0011842", + "UPHENO:0082538", + "UBERON:0004769", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0048707", + "HP:0011849", + "CHEBI:36359", + "HP:0003110", + "CHEBI:5686", + "BFO:0000002", + "UBERON:0001062", + "CHEBI:25693", + "UBERON:0000061", + "HP:0000001", + "BFO:0000015", + "HP:0001871", + "CHEBI:16737", + "UPHENO:0076289", + "UPHENO:0081547", + "BFO:0000040", + "UPHENO:0082834", + "HP:0004349", + "UBERON:0006314", "UPHENO:0046284", + "UBERON:0003103", "UPHENO:0068110", - "UPHENO:0086628", - "HP:0004322", - "UPHENO:0068054", + "HP:0001510", + "HP:0003109", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "UBERON:0002417", + "UPHENO:0082129", + "HP:0001939", + "UPHENO:0049874", + "UBERON:0003823", + "UBERON:0000465", + "CHEBI:33582", + "UBERON:0011216", + "UBERON:0005172", "UPHENO:0052038", - "UPHENO:0082875", - "UPHENO:0082542", - "UPHENO:0015280", - "UPHENO:0002642", + "UBERON:0001969", + "CHEBI:64709", + "UPHENO:0079536", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:24995", + "CHEBI:33670", "PATO:0000001", "UPHENO:0002442", - "UPHENO:0081544", + "UBERON:0000978", + "UBERON:0011249", + "UPHENO:0051739", + "UPHENO:0051900", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "HP:0020129", "UPHENO:0046348", - "HP:0000079", - "UPHENO:0086132", + "UBERON:0005177", + "UPHENO:0051847", + "UPHENO:0041258", + "UPHENO:0084763", "UPHENO:0068352", - "HP:0040068", - "HP:0011314", - "HP:0003330", - "HP:0000093", - "UPHENO:0080352", - "UPHENO:0068442", - "UPHENO:0076692", - "UPHENO:0068040", - "UPHENO:0082835", + "UPHENO:0078554", + "UPHENO:0002332", "UPHENO:0068292", "UPHENO:0084654", - "UPHENO:0081548", - "UPHENO:0076703", - "UPHENO:0084653", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0002896", - "UPHENO:0031310", - "HP:0000119", - "UPHENO:0002964", - "UPHENO:0041591", - "UPHENO:0082834", - "HP:0004349", - "UPHENO:0048707", - "HP:0011849", + "HP:0010935", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:26082", + "HP:0011277", + "HP:0012599", + "CHEBI:33241", + "UPHENO:0081423", + "UPHENO:0002642", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "UBERON:0001088", + "UPHENO:0084653", + "HP:0000083", + "GO:0032501", + "HP:0003330", + "UBERON:0000062", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0004708", + "UPHENO:0082835", + "UBERON:0002204", + "UPHENO:0068054", + "UPHENO:0020041", + "HP:0004348", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0068251", + "UBERON:0004288", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0041610", + "UBERON:0001434", + "UBERON:0002103", + "UBERON:0000075", "UPHENO:0041536", - "UPHENO:0078554", - "UPHENO:0076740", - "UPHENO:0082467", - "UPHENO:0002830", - "HP:0011844", - "UPHENO:0068472", - "UPHENO:0041098", - "HP:0002814", - "UPHENO:0080300", - "HP:0006487", - "HP:0001510", + "UBERON:0002529", + "UPHENO:0077858", + "UPHENO:0076285", + "UBERON:0015212", + "UBERON:0010538", + "UBERON:0006058", + "UPHENO:0068040", + "UBERON:0008784", "HP:0002979", - "UPHENO:0051739", + "UPHENO:0082543", + "UBERON:0002471", + "UPHENO:0075952", + "HP:0040068", + "RO:0002577", + "UBERON:0000475", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", "UPHENO:0084767", + "UBERON:0000064", + "UPHENO:0068472", + "UBERON:0000154", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "HP:0033127", "UPHENO:0086635", - "HP:0002981", + "UPHENO:0051630", + "UPHENO:0068190", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UBERON:0013702", + "CHEBI:33304", + "HP:0002813", + "UPHENO:0031310", + "UPHENO:0020584", + "UBERON:0005913", + "UPHENO:0004459", + "UBERON:0002428", + "UBERON:0010709", + "HP:0002814", "UPHENO:0086780", - "UPHENO:0002832", - "UPHENO:0084763", - "UPHENO:0068538", - "HP:0040064", - "HP:0003109", - "HP:0012591", - "UPHENO:0082129", + "HP:0011314", + "HP:0003259", + "UBERON:0010758", + "UBERON:0004381", + "UBERON:0010740", + "UPHENO:0080658", + "UBERON:0002495", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0086628", + "CHEBI:25806", + "UPHENO:0082449", + "UPHENO:0003070", + "UPHENO:0041226", + "CHEBI:33608", + "HP:0000940", + "GO:0042592", + "UBERON:0034925", + "UBERON:0011582", + "UBERON:0010912", + "HP:0004322", + "UBERON:0015061", + "CHEBI:33917", + "UBERON:0004375", ], "has_phenotype_closure_label": [ "abnormal independent continuant protein polypeptide chain level", "Abnormal urine protein level", - "Aciduria", - "increased level of amino acid in independent continuant", - "increased level of carboxylic acid in urine", - "increased level of organic acid in urine", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "macromolecule", + "peptide", + "Abnormal urine pH", "increased independent continuant base level", - "Organic aciduria", - "abnormal independent continuant carboxylic acid level", - "Aminoaciduria", "increased level of organic acid in independent continuant", - "Short stature", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", + "hydroxides", + "increased level of organic acid in urine", + "increased level of amino acid in urine", + "carbon oxoacid", + "carbonyl compound", + "hydrogen molecular entity", + "organic amino compound", + "carboxylic acid", + "abnormal urine amino acid level", + "abnormal independent continuant amino acid level", + "increased level of amino acid in independent continuant", + "amino acid", + "increased level of carboxylic acid in independent continuant", "decreased size of the anatomical entity in the independent continuant", + "Short stature", + "decreased height of the multicellular organism", + "abnormal amino acid level", "abnormal size of anatomical entity", + "Abnormality of body height", + "abnormal kidney", + "main body axis", + "subdivision of organism along main body axis", + "trunk", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", "Abnormality of the kidney", + "Renal insufficiency", + "trunk region element", + "non-functional kidney", "non-functional anatomical entity", - "Proteinuria", - "abnormal upper urinary tract", - "abnormal kidney", - "abnormal independent continuant glucose level", - "abnormal role urine level", + "abdomen element", + "cavitated compound organ", + "kidney", + "Abnormal urine metabolite level", + "body proper", "increased level of glucose in urine", - "Abnormal urine carboxylic acid level", - "increased level of glucose in independent continuant", - "abnormal limb bone morphology", - "shape long bone", - "increased level of carboxylic acid in independent continuant", - "Abnormal diaphysis morphology", - "Abnormal renal physiology", - "curved anatomical entity", - "Abnormal circulating metabolite concentration", - "increased level of protein polypeptide chain in urine", - "increased blood role level", - "Growth abnormality", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "increased blood serum role level", - "All", - "phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic system", - "increased level of protein polypeptide chain in independent continuant", + "hexose", + "aldose", + "glucose", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", "abnormal urine glucose level", - "entity", - "abnormal role blood serum level", - "abnormal bone element mass density", - "abnormal amino acid level", + "carbohydrates and carbohydrate derivatives", + "monosaccharide", + "increased level of phosphate in independent continuant", + "abnormal skeletal system", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "abnormality of anatomical entity physiology", + "compound organ", + "phosphorus oxoacids and derivatives", + "organooxygen compound", + "upper urinary tract", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "abnormality of kidney physiology", + "main group molecular entity", + "hindlimb", "increased level of nitrogen molecular entity in blood", - "abnormal limb bone", - "Abnormal bone ossification", - "abnormal phenotype by ontology source", - "Growth delay", - "increased independent continuant role level", - "abnormal biological_process", - "abnormal chemical entity level", - "Low-molecular-weight proteinuria", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "abnormal multicellular organism chemical entity level", + "abnormal blood chemical entity level", + "imidazolidines", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "Azotemia", + "anatomical system", + "abnormal independent continuant carbohydrate level", + "organic molecule", + "oxygen molecular entity", + "organic molecular entity", + "increased level of creatinine in independent continuant", + "primary amide", + "hematopoietic system", + "multicellular organism", + "haemolymphatic fluid", + "heteromonocyclic compound", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "Abnormal circulating creatinine concentration", + "increased level of chemical entity", + "organonitrogen heterocyclic compound", "abnormal shape of continuant", - "abnormal independent continuant creatinine level", + "abnormal blood nitrogen molecular entity level", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "imidazolidinone", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "creatinine", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", "Elevated circulating creatinine concentration", - "increased level of chemical entity", - "Abnormal circulating creatinine concentration", - "Abnormal urine metabolite level", - "increased level of creatinine in blood", - "increased bodily fluid acid level", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "Abnormality of acid-base homeostasis", - "Glycosuria", - "Abnormality of the calf", - "delayed growth", - "Azotemia", + "abnormal independent continuant creatinine level", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal blood serum chemical entity level", + "curved long bone", + "cyclic amide", + "paired limb/fin segment", + "pnictogen molecular entity", + "molecule", "abnormal independent continuant nitrogen molecular entity level", "abnormal anatomical entity", - "increased level of organic molecular entity in independent continuant", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "abnormal acid bodily fluid level", - "Abnormality of the urinary system physiology", - "Acidosis", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of chemical entity in blood plasma", - "abnormal hindlimb morphology", - "abnormal genitourinary system", - "shape anatomical entity", - "Abnormality of urine homeostasis", - "increased level of creatinine in independent continuant", - "delayed biological_process", + "increased level of chemical entity in blood", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "Metabolic acidosis", + "phenotype by ontology source", + "growth", + "abnormal role independent continuant level", + "process", + "abnormal blood plasma chemical entity level", + "chemical entity", + "increased independent continuant acid level", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "decreased size of the anatomical entity", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "Abnormal circulating nitrogen compound concentration", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "increased blood serum role level", + "delayed growth", + "multi-limb segment region", + "bodily fluid", + "abnormal urine phosphate level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "independent continuant", + "abnormal growth", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "phosphorus oxoacid derivative", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "anatomical structure", + "polypeptide", + "abnormal limb", "Abnormality of bone mineral density", "Bowing of the long bones", + "abnormal acid bodily fluid level", + "organic oxo compound", + "excreta", + "abnormal blood creatinine level", + "organic heterocyclic compound", + "organism subdivision", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", + "abnormal hindlimb zeugopod", + "protein polypeptide chain", "continuant", + "abnormal acid independent continuant level", + "organic heteromonocyclic compound", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "Acidosis", + "material entity", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "subdivision of skeletal system", + "entity", + "Abnormal circulating organic compound concentration", "phenotype", - "Reduced bone mineral density", - "abnormal blood creatinine level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "Decreased anatomical entity mass density", - "abnormal metabolite independent continuant level", - "specifically dependent continuant", - "abnormal role bodily fluid level", - "abnormal blood plasma chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "Metabolic acidosis", - "increased independent continuant acid level", - "Renal insufficiency", + "Abnormal bone structure", + "organic cyclic compound", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "blood serum", + "increased level of chemical entity in independent continuant", + "Abnormality of acid-base homeostasis", + "anatomical entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "increased bodily fluid acid level", + "increased level of creatinine in blood", + "appendage", + "organonitrogen compound", + "cyclic compound", + "abnormal bone element mass density", + "posterior region of body", + "multicellular anatomical structure", + "metabolic process", + "carboxamide", + "endochondral element", + "organ", + "occurrent", + "appendicular skeleton", "Abnormality of metabolism/homeostasis", "abnormal role blood level", - "abnormal blood nitrogen molecular entity level", - "Abnormal homeostasis", - "Bowing of the legs", - "increased level of creatinine in blood serum", - "abnormal anatomical entity morphology", - "abnormal diaphysis morphology", - "increased level of chemical entity in blood serum", + "increased blood role level", + "leg", + "Growth abnormality", + "polyatomic entity", + "abnormal role bodily fluid level", + "abnormal biological_process", + "blood plasma", + "long bone", + "monocyclic compound", + "material anatomical entity", + "increased independent continuant role level", + "lactam", + "renal system", + "abnormal renal system", "abnormal urine chemical entity level", - "abnormality of anatomical entity physiology", - "decreased size of the multicellular organism", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "Abnormal urine phosphate concentration", + "Aciduria", + "Abnormality of the urinary system", + "abnormal multicellular organism chemical entity level", + "phosphate", "quality", - "abnormal anatomical entity morphology in the pelvic complex", - "increased level of amino acid in urine", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", + "abnormality of renal system physiology", + "phosphoric acid derivative", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", "abnormal phosphate level", - "abnormal long bone morphology", - "Elevated urinary carboxylic acid", - "abnormal leg", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormality of the skeletal system", + "Bowing of the legs", "abnormal independent continuant phosphate level", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "abnormal leg", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "excretory system", + "genitourinary system", + "oxoacid derivative", "increased level of phosphate in urine", - "Phenotypic abnormality", - "Hyperphosphaturia", - "abnormal limb", - "increased level of chemical entity in blood", - "Abnormal urinary electrolyte concentration", - "abnormality of renal system physiology", - "increased level of monosaccharide in urine", + "Abnormality of the urinary system physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "zone of bone organ", + "multicellular organismal process", + "organ part", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "heterocyclic compound", + "skeletal system", + "specifically dependent continuant", + "abnormal anatomical entity morphology", "Abnormal skeletal morphology", - "abnormal urine phosphate level", - "Abnormality of the urinary system", + "Decreased anatomical entity mass density", "abnormal anatomical entity mass density", - "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "decreased height of the multicellular organism", + "Proteinuria", + "protein-containing material entity", "abnormal skeletal system morphology", "Abnormality of the musculoskeletal system", - "abnormal hindlimb zeugopod, curved", - "Rickets", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", + "abnormal upper urinary tract", "curvature anatomical entity", - "curved hindlimb zeugopod", - "abnormal blood serum chemical entity level", - "curved long bone", - "non-functional kidney", + "musculoskeletal system", + "diazolidine", + "Reduced bone mineral density", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", "abnormal diaphysis morphology in the independent continuant", - "Abnormality of the upper urinary tract", - "shape anatomical entity in independent continuant", - "abnormal limb morphology", - "abnormal growth", - "abnormal hindlimb zeugopod morphology", - "abnormality of kidney physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal renal system", - "Abnormal long bone morphology", - "Abnormality of body height", - "Abnormal appendicular skeleton morphology", - "curvature anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal independent continuant amino acid level", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "abnormal hindlimb zeugopod", - "Abnormality of limb bone", + "abnormal size of multicellular organism", + "bone element", + "hemolymphoid system", + "Rickets", + "abnormal independent continuant glucose level", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal hindlimb zeugopod, curved", + "abnormal appendicular skeleton morphology", "curved anatomical entity in independent continuant", "Abnormality of the lower limb", - "abnormal appendicular skeleton morphology", + "Abnormality of the calf", + "curved hindlimb zeugopod", + "abnormal diaphysis morphology", + "curved anatomical entity", + "limb", + "pelvic appendage", + "zone of long bone", + "limb bone", + "Abnormal appendicular skeleton morphology", + "aldohexose", + "zone of organ", + "abnormal anatomical entity morphology in the independent continuant", + "increased level of protein polypeptide chain in urine", + "limb segment", + "abnormal anatomical entity, curved", + "nitrogen molecular entity", + "abnormal limb morphology", + "paired limb/fin", + "lower limb segment", + "skeletal element", + "zeugopod", + "abnormal long bone morphology", + "abnormal chemical entity level", + "appendicular skeletal system", + "subdivision of skeleton", + "endochondral bone", + "lateral structure", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "amide", + "Abnormality of limb bone", + "pelvic complex", + "abnormal limb bone morphology", + "shape anatomical entity in independent continuant", + "Organic aciduria", + "Abnormal diaphysis morphology", + "system", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb endochondral element", + "bone of free limb or fin", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "increased level of glucose in independent continuant", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "abnormal role urine level", ], "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0024525", + "id": "MONDO:0013247", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", + "name": "Fanconi renotubular syndrome 2", "full_name": None, "deprecated": None, - "description": None, - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], "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", + "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:0001942", - "HP:0003648", - "HP:0001324", + "HP:0000117", "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0002900", + "HP:0000114", + "HP:0002757", "HP:0002748", - "HP:0034359", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", "HP:0003076", - "HP:0003155", - "HP:0003355", + "HP:0003165", "HP:0004322", - "HP:0003126", + "HP:0002653", + "HP:0012213", "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", ], "has_phenotype_label": [ "Osteomalacia", - "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", + "Renal phosphate wasting", "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Hypokalemia", + "Proximal tubulopathy", + "Recurrent fractures", "Rickets", - "Impaired renal tubular reabsorption of phosphate", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", + "Elevated circulating parathyroid hormone level", "Short stature", - "Low-molecular-weight proteinuria", + "Bone pain", + "Decreased glomerular filtration rate", "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", ], "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", + "HP:0002150", + "UPHENO:0051678", + "HP:0011280", + "UPHENO:0068134", + "UPHENO:0046344", "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", + "HP:0001510", + "UPHENO:0081424", + "UPHENO:0069254", + "HP:0004322", + "UPHENO:0020584", + "UPHENO:0049874", + "UPHENO:0075159", + "UPHENO:0000541", + "UPHENO:0086132", + "UPHENO:0075195", + "GO:0040007", "UPHENO:0068442", + "UPHENO:0082943", + "HP:0004360", + "PR:000000001", + "UPHENO:0068174", + "HP:0001948", + "UPHENO:0051936", + "UPHENO:0068971", + "CHEBI:33695", + "CHEBI:33694", + "UPHENO:0082536", "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", - "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", - "UPHENO:0081777", - "UPHENO:0066927", - "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", + "UPHENO:0068068", + "HP:0012337", + "UPHENO:0068104", + "UPHENO:0068472", + "HP:0002152", + "UPHENO:0051741", + "UPHENO:0068477", + "UPHENO:0081550", + "PR:000018263", + "UBERON:0001969", + "UPHENO:0051648", + "UPHENO:0080658", + "UPHENO:0052116", + "CHEBI:33917", + "CHEBI:18133", + "CHEBI:17234", + "HP:0010876", + "CHEBI:35381", + "UPHENO:0068054", + "HP:0012212", + "UBERON:0001977", + "UPHENO:0051635", + "CHEBI:32988", + "UPHENO:0068565", + "UPHENO:0051801", + "UPHENO:0068247", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:16670", + "CHEBI:18059", + "UBERON:0034923", + "UPHENO:0081547", + "UPHENO:0015280", + "UPHENO:0081548", + "UPHENO:0051864", + "GO:1901615", + "GO:1901360", + "GO:0006629", + "UPHENO:0076293", + "UPHENO:0079534", + "UPHENO:0048763", + "HP:0430071", + "CHEBI:26191", + "CHEBI:35350", + "CHEBI:22313", + "CHEBI:51958", + "UBERON:0000949", + "UPHENO:0068047", + "HP:0000818", + "UPHENO:0048711", + "UPHENO:0082539", + "CHEBI:33822", + "UBERON:0011143", + "UPHENO:0080352", + "UBERON:0000179", "UPHENO:0066739", "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", - "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", - "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", - "UPHENO:0002816", - "HP:0001824", + "UPHENO:0051630", "UPHENO:0034253", - "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", - "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", + "HP:0000093", + "GO:0055062", + "UBERON:0000468", + "UBERON:0002417", + "UPHENO:0051960", + "UPHENO:0034217", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0050080", + "HP:0012213", + "PR:000050567", + "BFO:0000003", + "UPHENO:0049618", + "CHEBI:33259", + "CHEBI:24870", + "UBERON:0000064", + "HP:0012531", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "HP:0004364", + "UPHENO:0078589", + "UPHENO:0078628", + "GO:0048878", "HP:0002148", - "UPHENO:0050121", - "UPHENO:0046283", + "BFO:0000020", + "CHEBI:33675", + "UPHENO:0002442", + "PATO:0000001", + "CHEBI:16646", + "HP:0000124", + "UPHENO:0082835", + "UPHENO:0068040", "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", + "GO:0071704", + "CHEBI:33318", + "CHEBI:24431", "HP:0003111", - "HP:0000079", - "HP:0004379", - "HP:0004360", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0079822", - "UPHENO:0050539", - "HP:0011849", - "UPHENO:0048707", - "HP:0012211", - "UPHENO:0051847", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", + "HP:0032369", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0068169", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0080638", "UPHENO:0002964", - "UPHENO:0084653", - "UPHENO:0002320", - "HP:0430071", - "UPHENO:0082835", - "UPHENO:0068040", - "HP:0100529", - "UPHENO:0001005", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0051686", - "UPHENO:0001002", - "UPHENO:0046284", - "UPHENO:0068110", - "HP:0001947", - "UPHENO:0051645", - "UPHENO:0020748", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", - "HP:0000093", - "HP:0000001", - "HP:0004348", - "UPHENO:0082834", - "HP:0003774", + "HP:0032180", + "UPHENO:0068091", + "CHEBI:37622", + "GO:0006775", + "HP:0001871", + "UBERON:0000483", "UPHENO:0080659", + "CHEBI:33579", "UPHENO:0051668", - "UPHENO:0052116", - "HP:0000924", - "HP:0003330", - "HP:0010930", - "UPHENO:0046348", - "HP:0020129", - "HP:0000077", - "UPHENO:0068089", + "UBERON:0013702", + "CHEBI:33304", + "HP:0004348", + "HP:0000001", + "UBERON:0004111", + "UPHENO:0049628", + "CHEBI:33238", + "CHEBI:35788", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0034351", + "UPHENO:0084654", "UPHENO:0051937", + "CHEBI:33709", + "CHEBI:35605", + "CHEBI:33839", + "CHEBI:26079", + "HP:0031415", + "BFO:0000040", + "HP:0004349", + "UBERON:0001088", + "GO:0044281", + "UPHENO:0082534", "HP:0002749", - "UPHENO:0001001", - "UPHENO:0081440", - "UPHENO:0086908", - "HP:0012599", - "UPHENO:0075696", - "HP:0011842", - "HP:0002150", - "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", + "UPHENO:0084653", + "CHEBI:73558", "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", + "UPHENO:0046362", + "UPHENO:0046291", + "CHEBI:33250", + "UBERON:0002113", + "HP:0000117", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0051186", + "CHEBI:36963", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "HP:0003119", + "UBERON:0000062", + "HP:0100529", + "CHEBI:35352", + "UBERON:0004819", + "CHEBI:36853", + "UPHENO:0051686", + "UPHENO:0001005", + "HP:0011849", + "UPHENO:0048707", + "HP:0000079", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "UBERON:0002193", + "CHEBI:33241", + "HP:0002653", + "UPHENO:0076703", + "CHEBI:33635", + "UBERON:0000061", + "HP:0000118", + "GO:0006766", + "UBERON:0000178", + "UPHENO:0051763", + "GO:0008150", + "GO:0008152", + "CHEBI:23367", + "UPHENO:0012541", + "CHEBI:36360", + "UPHENO:0068491", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000114", + "GO:0042592", + "UBERON:0000489", + "UPHENO:0082538", + "UBERON:0004120", + "UPHENO:0068538", + "UPHENO:0051804", + "UPHENO:0003116", + "HP:0003330", + "UPHENO:0080643", + "UBERON:0011216", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0002100", + "UBERON:0001434", + "HP:0100530", + "UPHENO:0034391", + "UPHENO:0068049", + "CHEBI:51143", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0001003", + "BFO:0000015", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0004459", + "GO:0098771", + "UPHENO:0077821", + "CHEBI:36357", + "HP:0012599", + "UPHENO:0075696", + "HP:0011842", + "HP:0033127", + "UBERON:0001062", + "CHEBI:26082", + "CHEBI:17823", + "HP:0001939", "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", + "CHEBI:36359", "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", - "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", + "UPHENO:0068110", + "UBERON:0003103", + "UBERON:0001231", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "CHEBI:15693", + "UPHENO:0081544", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0009773", + "UPHENO:0046284", + "HP:0003077", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0068533", + "CHEBI:47042", + "UBERON:0005173", + "UPHENO:0002411", + "UPHENO:0076285", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", + "HP:0003117", + "UBERON:0002390", + "UBERON:0010000", + "UPHENO:0051709", + "HP:0001992", + "UPHENO:0066943", + "UBERON:0000479", + "CHEBI:33832", + "UBERON:0000475", + "UBERON:0011676", "UPHENO:0002332", "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", + "UBERON:0009569", + "CHEBI:24651", + "BFO:0000001", + "CHEBI:35341", + "UPHENO:0052038", + "UBERON:0005172", + "UPHENO:0024906", + "HP:0033331", + "UBERON:0006555", + "CHEBI:78616", + "HP:0000077", + "UBERON:0004122", + "HP:0010935", + "HP:0003165", + "UBERON:0013701", + "UBERON:0001285", "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", + "HP:0002659", + "UBERON:0002204", + "UPHENO:0081440", + "HP:0032943", + "PR:000013429", + "HP:0100508", + "HP:0032245", + "HP:0002757", + "HP:0011843", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "HP:0000938", + "UPHENO:0049723", "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", + "CHEBI:33608", + "HP:0100511", + "UPHENO:0001002", + "UPHENO:0082540", "HP:0003355", + "CHEBI:33559", "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", - "HP:0001992", - "HP:0002086", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", - "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", + "UPHENO:0051739", + "CHEBI:25367", + "CHEBI:33285", + "HP:0012072", + "UPHENO:0076287", + "UPHENO:0046281", + "CHEBI:25806", + "CHEBI:33575", + "CHEBI:50047", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0002642", + "HP:0002909", + "HP:0000002", + "HP:0002157", + "HP:0033354", + "CHEBI:22984", + "UBERON:0000463", + "CHEBI:26020", + "HP:0040156", + "UPHENO:0051670", + "UPHENO:0051612", + "UPHENO:0068089", + "CHEBI:50860", + "CHEBI:36962", + "HP:0031980", + "CHEBI:36587", + "UPHENO:0068384", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", + "UPHENO:0076289", + "UPHENO:0068144", + "UPHENO:0068058", + "UPHENO:0068313", + "CHEBI:33674", + "UBERON:0000465", + "CHEBI:33582", + "UBERON:0003914", + "UPHENO:0079536", + "CHEBI:64709", + "UPHENO:0051628", "UPHENO:0050116", - "HP:0012606", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", + "GO:0008202", + "UPHENO:0082834", + "GO:0042359", + "UPHENO:0068102", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:27300", + "UPHENO:0001001", + "GO:0044238", + "UPHENO:0051680", + "UBERON:0015204", + "BFO:0000004", + "CHEBI:27136", "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", + "UPHENO:0049873", + "CHEBI:72695", + "UPHENO:0068064", "UPHENO:0051712", - "UPHENO:0049587", "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616", + "UPHENO:0049587", + "CHEBI:33595", ], "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", + "main group element atom", + "abnormal calcium atom level", + "s-block element atom", + "increased level of calcium atom in independent continuant", + "atom", + "Hypercalciuria", + "alkaline earth metal atom", + "Abnormality of urine calcium concentration", + "Renal insufficiency", + "non-functional kidney", + "Decreased glomerular filtration rate", + "Abnormal glomerular filtration rate", "Pain", "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", - "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", - "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "metal atom", + "abnormality of anatomical entity height", + "abnormal anatomical entity morphology in the independent continuant", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Growth abnormality", + "blood serum", + "increased level of nitrogen molecular entity in blood", + "increased level of chemical entity in blood serum", + "Abnormal circulating nitrogen compound concentration", + "increased level of protein in blood", + "Alkalosis", + "Acute phase response", + "abnormal blood serum chemical entity level", + "increased level of protein", + "Abnormality of acid-base homeostasis", + "increased level of parathyroid hormone in independent continuant", + "abnormal acid bodily fluid level", + "protein", + "abnormal blood parathyroid hormone level", + "parathyroid hormone", + "calcium atom", + "increased blood serum role level", + "Elevated circulating parathyroid hormone level", + "abnormal independent continuant protein level", + "abnormal role blood serum level", + "blood plasma", "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", + "abnormal blood protein polypeptide chain level", + "Hyperproteinemia", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", + "increased level of monosaccharide in urine", + "abnormal urine glucose level", + "monosaccharide", + "abnormal independent continuant carbohydrate level", + "increased level of glucose in independent continuant", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in urine", + "increased level of protein polypeptide chain in independent continuant", + "macromolecule", + "peptide", + "increased level of chemical entity in bodily fluid", + "Hyperlipidemia", + "Abnormal urine protein level", + "abnormal hormone blood level", + "increased blood role level", + "abnormal hormone independent continuant level", + "increased level of lipid in independent continuant", + "increased independent continuant hormone level", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + "vitamin metabolic process", + "lipid metabolic process", + "small molecule metabolic process", + "Abnormal metabolism", + "abnormal primary metabolic process", + "increased level of calcitriol in blood", + "epithelial tube", + "Renal tubular dysfunction", + "epithelium", + "abnormal anatomical entity mass density", + "abnormal blood chemical entity level", + "abdomen element", + "primary amide", + "elemental molecular entity", + "organism substance", "decreased level of chemical entity in blood", "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", - "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", + "Short stature", + "endocrine system", + "abnormally decreased functionality of the anatomical entity", + "abnormal blood plasma chemical entity level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "Abnormal circulating hormone concentration", + "abnormal urine phosphate level", "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", + "monoatomic ion", + "abnormal acid independent continuant level", + "monoatomic entity", + "main body axis", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "non-functional anatomical entity", + "Osteopenia", + "abnormal role blood level", "abnormal homeostatic process", - "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", - "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", - "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "abnormal musculature", + "increased level of monosaccharide in independent continuant", + "D3 vitamins", + "abnormal chemical homeostasis", + "abnormal independent continuant lipid level", + "phosphorus molecular entity", "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", + "excretory system", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "polyatomic entity", + "Elevated urinary carboxylic acid", + "main group molecular entity", + "abnormality of kidney physiology", "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", + "blood", + "phosphate ion homeostasis", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal endocrine system", + "Renal phosphate wasting", + "abnormal protein level", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "pnictogen molecular entity", + "All", + "carbonyl compound", + "Recurrent fractures", + "material entity", + "organic amino compound", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "upper urinary tract", "Abnormality of urine homeostasis", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "Abnormal circulating protein concentration", + "increased level of parathyroid hormone in blood serum", + "entity", + "abnormal blood lipid level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "anatomical entity", + "Abnormal blood ion concentration", + "decreased level of chemical entity in independent continuant", + "Decreased anatomical entity mass density", + "skeletal system", + "phosphoric acid derivative", "abnormality of renal system physiology", "quality", - "abnormal amino-acid betaine level", + "carbon oxoacid", "Abnormality of the genitourinary system", "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", - "abnormal cell", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", - "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", + "abnormal multicellular organism chemical entity level", + "phosphate", + "non-connected functional system", + "calcitriol", + "genitourinary system", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "abnormal vitamin D level", + "increased blood serum base level", + "abnormal blood phosphate level", + "multicellular organismal process", + "organ part", + "haemolymphatic fluid", + "abnormal skeletal system", + "multicellular anatomical structure", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "triol", + "increased level of amino acid in independent continuant", + "homeostatic process", "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", + "Increased susceptibility to fractures", + "organochalcogen compound", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "hematopoietic system", + "multicellular organism", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal genitourinary system", + "abnormal size of multicellular organism", + "bone element", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "organ system subdivision", "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", + "Abnormality of vitamin D metabolism", + "increased level of protein in independent continuant", + "renal system", + "Azotemia", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "process", + "abnormal role independent continuant level", + "abnormal growth", + "independent continuant", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "oxoacid derivative", + "trunk", + "abnormality of musculoskeletal system physiology", + "lipid", + "material anatomical entity", + "occurrent", + "organ", + "delayed biological_process", + "Osteomalacia", + "oxoacid", + "anatomical system", + "organic cyclic compound", + "Abnormal bone structure", + "chemical homeostasis", + "skeletal element", + "cavitated compound organ", + "increased level of lipid in blood", + "kidney", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "bodily fluid", + "seco-steroid", + "metabolic process", + "heteroatomic molecular entity", + "steroid metabolic process", + "chemical entity", + "polyol", + "increased independent continuant acid level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "nephron epithelium", + "uriniferous tubule", + "Proximal tubulopathy", + "organism subdivision", + "cyclic compound", + "steroid", + "excretory tube", + "lateral structure", + "nephron tubule", + "hydrogen molecular entity", + "fat-soluble vitamin metabolic process", + "trunk region element", + "tube", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "Bone pain", + "Abnormality of the upper urinary tract", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "abdomen", + "abdominal segment of trunk", + "subdivision of organism along main body axis", + "abnormal kidney", + "increased bodily fluid base level", + "increased level of glucose in urine", + "body proper", + "hemolymphoid system", + "Rickets", "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", + "abnormal amino acid level", + "increased independent continuant role level", + "musculoskeletal system", + "abnormal upper urinary tract", + "increased level of calcitriol in independent continuant", + "increased level of carboxylic acid in independent continuant", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "amino acid", + "molecule", + "abnormal blood nitrogen molecular entity level", + "organic hydroxy compound metabolic process", + "increased level of lipid", + "abnormality of multicellular organism height", "decreased level of chemical entity", "abnormal phosphate level", "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", - "delayed biological_process", - "abnormal growth", - "abnormal blood uric acid level", - "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", + "primary metabolic process", + "glandular system", + "increased level of chemical entity in urine", + "increased level of amino acid in urine", + "abnormal role urine level", + "increased level of chemical entity in independent continuant", + "carboxylic acid", + "Abnormal urine pH", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal urine amino acid level", + "nitrogen molecular entity", + "Abnormality of the urinary system physiology", + "hydroxycalciol", + "increased level of vitamin D", + "Abnormal circulating organic compound concentration", + "abnormal vitamin D metabolic process", + "carboxamide", + "Generalized aminoaciduria", + "organic molecular entity", + "oxygen molecular entity", + "increased level of organic acid in urine", + "organic molecule", + "Abnormality of the urinary system", + "Aciduria", + "hydroxides", + "increased level of organic acid in independent continuant", + "increased independent continuant base level", + "increased level of organic molecular entity in independent continuant", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", + "organonitrogen compound", + "heteroorganic entity", + "Abnormal circulating metabolite concentration", + "ossification", + "organic acid", + "organooxygen compound", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "polycyclic compound", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "abnormal small molecule metabolic process", + "abnormal renal system", + "vitamin D", + "excreta", + "organic oxo compound", "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "Hypokalemia", - "Decreased circulating purine concentration", + "Abnormality of vitamin metabolism", + "Abnormality of the endocrine system", + "abnormal lipid level", + "vitamin D metabolic process", + "disconnected anatomical group", + "hydroxy seco-steroid", + "abnormal independent continuant calcium atom level", + "abnormal independent continuant parathyroid hormone level", + "abnormal vitamin metabolic process", ], - "has_phenotype_count": 39, + "has_phenotype_count": 17, + "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": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, "highlight": None, "score": None, }, @@ -4309,7577 +6757,12841 @@ def search(): "Lung adenocarcinoma", ], "has_phenotype_closure": [ + "HP:0011793", + "HP:0002664", "HP:0100526", - "HP:0030078", - "HP:0032263", - "UPHENO:0080362", - "UPHENO:0002678", - "HP:0030972", - "HP:0011025", + "UBERON:0002049", + "UBERON:0000477", + "UBERON:0034923", "HP:0001626", + "UBERON:0001009", + "HP:0002597", + "HP:0000822", + "UBERON:0000055", + "UBERON:0004535", + "UBERON:0001981", + "HP:0030972", + "UPHENO:0002678", + "HP:0003774", "HP:0012211", - "UPHENO:0086132", - "UPHENO:0086128", "HP:0012622", - "UPHENO:0002411", - "HP:0000083", - "HP:0005576", - "HP:0012210", + "UPHENO:0086132", + "UBERON:0000489", "UPHENO:0076714", - "UPHENO:0087427", - "HP:0012575", - "HP:0010935", - "HP:0000077", + "UBERON:0005172", + "UBERON:0001231", + "UPHENO:0076779", + "HP:0012210", + "UBERON:0000479", + "UBERON:0005173", + "UBERON:0000916", + "HP:0000091", + "UPHENO:0075902", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "UBERON:0002113", + "UBERON:0011143", + "UBERON:0004819", + "HP:0030760", + "UPHENO:0051930", + "CHEBI:36586", "UPHENO:0068169", - "HP:0032943", - "UPHENO:0068144", - "UPHENO:0046286", - "UPHENO:0051670", + "CHEBI:36587", + "CHEBI:24651", "HP:0031980", + "UPHENO:0051670", + "CHEBI:33575", + "HP:0030078", "HP:0012072", + "HP:0030358", + "HP:0032943", "UPHENO:0068495", - "UPHENO:0068491", - "HP:0003076", - "UPHENO:0080659", - "HP:0000091", - "UPHENO:0080658", + "CHEBI:33709", + "UPHENO:0076756", + "CHEBI:25367", + "UPHENO:0051739", + "UBERON:0004537", + "UPHENO:0046286", + "UPHENO:0052116", + "CHEBI:18133", + "CHEBI:17234", + "CHEBI:35381", + "HP:0000077", + "CHEBI:78616", + "CHEBI:33674", "UPHENO:0068058", + "CHEBI:16646", "UPHENO:0051635", - "UPHENO:0051640", - "HP:0011277", - "UPHENO:0002803", - "HP:0020129", - "UPHENO:0051801", - "HP:0000079", - "UPHENO:0077821", + "CHEBI:33285", + "CHEBI:32988", + "CHEBI:35352", + "CHEBI:24833", + "UBERON:0001008", + "UBERON:0001088", + "UPHENO:0002442", "UPHENO:0068565", - "UPHENO:0002642", - "HP:0003110", "UPHENO:0068247", + "CHEBI:16541", + "CHEBI:15841", + "HP:0011277", + "HP:0032581", + "CHEBI:36962", + "CHEBI:50860", + "CHEBI:51143", + "HP:0010935", + "UBERON:0004122", + "UBERON:8450002", + "UPHENO:0082542", + "HP:0000119", + "CHEBI:15693", + "UPHENO:0081544", "HP:0033354", - "HP:0030878", - "HP:0045051", - "UPHENO:0002332", + "CHEBI:37622", + "CHEBI:50047", + "CHEBI:16670", + "UPHENO:0051686", + "UPHENO:0068538", "UPHENO:0002448", - "HP:0002795", - "UPHENO:0081547", - "UPHENO:0068064", - "HP:0001995", - "HP:0012337", - "BFO:0000020", + "UBERON:0010912", + "UBERON:0011582", + "CHEBI:33917", + "UBERON:0004375", + "UBERON:0034921", + "HP:0011849", + "UPHENO:0048707", + "UBERON:0000061", + "HP:0002815", "UPHENO:0087462", - "UPHENO:0076756", - "UPHENO:0041536", - "UPHENO:0082449", - "UPHENO:0003070", - "UPHENO:0051763", + "UBERON:0000064", + "CHEBI:24870", "UPHENO:0041226", - "UPHENO:0020041", - "BFO:0000002", - "UPHENO:0081548", - "UPHENO:0076703", - "HP:0030358", + "UBERON:0004288", + "UBERON:0011249", "UPHENO:0001003", - "HP:0000822", - "HP:0011842", - "UPHENO:0081550", - "UPHENO:0041573", + "UPHENO:0002642", + "HP:0100491", + "UPHENO:0041610", + "UPHENO:0003070", + "CHEBI:25806", + "UPHENO:0082449", + "UPHENO:0086628", + "UBERON:0002529", + "UPHENO:0041536", + "UBERON:0005913", + "BFO:0000004", + "UBERON:0004381", + "UPHENO:0031310", + "UPHENO:0020584", + "BFO:0000020", + "UPHENO:0068491", + "CHEBI:36360", + "UPHENO:0076727", + "UBERON:0010758", + "UBERON:0015061", "HP:0011314", - "HP:0040068", - "UPHENO:0002832", + "HP:0100606", "UPHENO:0084763", - "UPHENO:0077858", - "HP:0001939", - "HP:0001941", - "HP:0004360", - "UPHENO:0034391", - "UPHENO:0081546", - "UPHENO:0075952", - "UPHENO:0080300", - "UPHENO:0076289", - "UPHENO:0004459", - "UPHENO:0002442", - "PATO:0000001", - "UPHENO:0051937", - "HP:0000118", - "UPHENO:0031193", - "HP:0000924", - "UPHENO:0052116", - "UPHENO:0051668", - "UPHENO:0078554", - "UPHENO:0082467", - "UPHENO:0076740", - "UPHENO:0082542", + "UPHENO:0001005", + "UBERON:0010709", + "UBERON:0004765", + "UBERON:0000467", + "UPHENO:0080658", + "UBERON:0002495", + "UBERON:0000468", + "HP:0000093", + "GO:0055062", + "HP:0034669", + "HP:0020129", + "UPHENO:0046348", + "HP:0006530", + "UBERON:0010740", + "UBERON:0010538", + "HP:0003076", + "UBERON:0013522", + "UBERON:0000154", + "UPHENO:0081548", "UPHENO:0015280", - "UPHENO:0082129", - "HP:0032581", - "HP:0004912", + "HP:0003110", + "CHEBI:36359", + "UPHENO:0082467", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0010363", + "UPHENO:0041258", + "UPHENO:0082875", + "UBERON:0002100", + "UBERON:0001474", "HP:0033127", - "UPHENO:0041610", - "HP:0000093", + "UPHENO:0086635", + "UBERON:0000179", + "UBERON:0000026", + "UPHENO:0002406", + "BFO:0000040", + "CHEBI:35605", + "UBERON:0002091", + "UPHENO:0041591", + "UPHENO:0082834", + "HP:0004349", + "UPHENO:0031193", + "HP:0000118", + "UBERON:0000178", + "UBERON:0015212", + "UBERON:0004120", + "UPHENO:0068144", + "UBERON:0010707", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0075945", + "UPHENO:0002885", + "HP:0040064", + "BFO:0000001", + "UBERON:0006058", + "UPHENO:0034253", + "UBERON:0010712", + "UPHENO:0076299", + "UPHENO:0077858", + "HP:0012575", + "UPHENO:0081550", + "UBERON:0006555", + "UPHENO:0086780", + "UPHENO:0002411", + "HP:0002981", + "UPHENO:0068054", + "UPHENO:0020041", "UPHENO:0001001", + "UBERON:0002204", "UPHENO:0086908", + "HP:0006487", + "UPHENO:0004536", + "UBERON:0004770", + "UPHENO:0068091", + "HP:0001367", + "UPHENO:0082835", + "UPHENO:0068040", + "UBERON:0008784", + "RO:0002577", + "UPHENO:0041098", + "UBERON:0002103", + "HP:0011842", "UPHENO:0075696", "HP:0001871", - 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"HP:0012252", - "UPHENO:0002896", - "UPHENO:0076727", - "UPHENO:0079873", - "UPHENO:0084653", - "HP:0100491", - "HP:0003330", - "UPHENO:0086635", - "UPHENO:0001005", - "HP:0045049", - "HP:0100529", - "HP:0002813", - "UPHENO:0020584", - "BFO:0000001", + "UBERON:0004111", + "UBERON:0011216", + "UBERON:0005178", + "BFO:0000002", + "UPHENO:0075945", + "CHEBI:33582", + "UBERON:0000465", + "UBERON:0004769", "UPHENO:0082538", "UPHENO:0082539", + "UBERON:0002417", + "UPHENO:0082129", + "CHEBI:37577", + "UBERON:0000062", "UPHENO:0086956", - "UPHENO:0049628", - "UPHENO:0002536", - "HP:0002097", - "HP:0002815", - "HP:0002148", - "UPHENO:0019970", + "UPHENO:0076767", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", + "HP:0012252", + "HP:0000079", + "UBERON:0002513", + "UBERON:0003840", "HP:0001992", - "HP:0002086", - "UPHENO:0002406", - "UPHENO:0087433", - "UPHENO:0081544", - "HP:0034669", - "UPHENO:0046348", - "HP:0006530", - "UPHENO:0068040", - "HP:0001367", - "UPHENO:0082835", - "HP:0002088", - 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"UPHENO:0068091", + "UPHENO:0087993", + "GO:0008152", + "HP:0002795", + "UBERON:0034925", + "GO:0042592", + "UPHENO:0049628", + "CHEBI:33238", + "GO:0008150", + "GO:0048878", + "UBERON:0003657", + "CHEBI:23367", + "UPHENO:0077821", + "CHEBI:36357", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "UBERON:0003823", + "HP:0001995", + "CHEBI:33259", + "UPHENO:0087427", + "UPHENO:0078554", + "UPHENO:0002332", + "UPHENO:0051763", + "UPHENO:0080362", + "UPHENO:0051937", + "UBERON:0000915", + "UPHENO:0034391", + "UPHENO:0051640", + "UPHENO:0081546", + "HP:0004360", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "UPHENO:0050080", + "UBERON:0002428", + "GO:0098771", + "UPHENO:0004459", + "UBERON:0000065", "HP:0032180", - "UPHENO:0041258", - "UPHENO:0051847", - "UPHENO:0075902", - "UPHENO:0066739", - "UPHENO:0034217", + "CHEBI:26082", + "CHEBI:36963", + "UPHENO:0051186", "HP:0003111", - "HP:0002206", - "HP:0001942", - "UPHENO:0076294", - "UPHENO:0079536", + "CHEBI:24431", + "CHEBI:33241", + "UPHENO:0049904", + "UBERON:0000978", + "HP:0100529", + "HP:0045049", + "UBERON:0000982", + "UPHENO:0034217", + "CHEBI:33839", + "CHEBI:26079", + "UPHENO:0051960", "UPHENO:0034351", "UPHENO:0084654", - "HP:0003774", - "UPHENO:0041591", - "UPHENO:0082834", - "HP:0004349", - "HP:0002748", - "UPHENO:0048707", - "HP:0011849", - "HP:0002664", - "UPHENO:0082543", - "UPHENO:0068089", + "UPHENO:0066739", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804", + "HP:0040156", + "HP:0002857", + "CHEBI:26020", + "UBERON:0000463", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "CHEBI:33302", + "UPHENO:0076740", + "UPHENO:0076294", + "HP:0001942", + "UPHENO:0079873", + "HP:0002206", + "UPHENO:0084653", + "HP:0003330", + "HP:0004348", "HP:0004918", + "UBERON:0000170", + "UPHENO:0068089", + "HP:0012337", + "CHEBI:72695", + "UPHENO:0068064", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0079536", + "UPHENO:0076289", + "UBERON:0000483", + "UBERON:0002471", + "HP:0002979", + "UPHENO:0082543", + "UPHENO:0081547", + "UPHENO:0041573", + "HP:0030878", + "HP:0045051", ], "has_phenotype_closure_label": [ - "Neoplasm of the lung", "Neoplasm of the respiratory system", - "Lung adenocarcinoma", - "Hypertension", - "Abnormality of the cardiovascular system", + "Neoplasm", "Abnormal systemic blood pressure", + "abnormal cardiovascular system", + "Hypertension", + "disconnected anatomical group", "Abnormality of the vasculature", + "cardiovascular system", + "blood vasculature", + "Renal insufficiency", + "non-functional kidney", + "abnormal vasculature", "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal kidney morphology", - "Tubulointerstitial fibrosis", - "abnormal kidney epithelium morphology", + "abnormal kidney", + "Abnormal nephron morphology", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", "Abnormality of the kidney", - "Renal fibrosis", + "Abnormal renal insterstitial morphology", + "abdomen element", + "excretory tube", + "cavitated compound organ", + "tissue", + "anatomical cluster", + "abnormal kidney epithelium morphology", "Abnormal renal morphology", - "abnormal kidney", - "abnormal renal system morphology", - "Aciduria", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", - "increased level of carboxylic acid in urine", - "Non-small cell lung carcinoma", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "s-block molecular entity", + "Abnormal urine pH", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", + "abnormal nephron tubule morphology", "increased level of organic acid in urine", + "increased level of amino acid in urine", + "increased level of carboxylic acid in urine", + "carbon oxoacid", + "carbonyl compound", + "nephron tubule", + "Abnormal renal tubule morphology", + "hydrogen molecular entity", + "carboxylic acid", "abnormal urine amino acid level", - "abnormal cardiovascular system", - "Aminoaciduria", - "increased level of organic acid in independent continuant", - "abnormal independent continuant glucose level", - "increased level of glucose in urine", - "Abnormal urine carboxylic acid level", + "molecule", + "abnormal independent continuant amino acid level", + "amino acid", + "oxoacid", + "increased level of carboxylic acid in independent continuant", + "abnormal amino acid level", + "hexose", + "aldose", + "glucose", + "Lung adenocarcinoma", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", + "abnormal urine glucose level", + "carbohydrates and carbohydrate derivatives", + "monosaccharide", + "abnormal independent continuant carbohydrate level", "increased level of glucose in independent continuant", + "abnormal metabolite independent continuant level", + "organooxygen compound", + "heteroorganic entity", + "urine", + "increased independent continuant base level", + "Abnormality of the urinary system physiology", + "Abnormal urine metabolite level", "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "oxygen molecular entity", + "organic molecular entity", + "genitourinary system", + "abnormal genitourinary system", + "Abnormal tubulointerstitial morphology", + "upper urinary tract", + "Abnormality of urine homeostasis", + "abnormal independent continuant nitrogen molecular entity level", + "carboxamide", + "organic amino compound", + "organic oxo compound", + "excreta", + "Aciduria", "Abnormality of the urinary system", - "abnormality of renal system physiology", - "abnormal upper urinary tract", - "Proteinuria", - "abnormal role urine level", - "Stage 5 chronic kidney disease", - "increased level of organic molecular entity in independent continuant", - "abnormal urine chemical entity level", + "increased level of protein polypeptide chain in independent continuant", + "abnormal renal system", + "carbon group molecular entity", + "renal system", + "macromolecule", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "abnormal respiratory system", + "limb joint", + "limb bone", + "subdivision of organism along appendicular axis", + "bone of free limb or fin", + "hindlimb", + "Bowing of the long bones", + "anatomical structure", + "anatomical conduit", + "shape anatomical entity in independent continuant", + "organonitrogen compound", + "appendage", + "tube", + "Abnormality of acid-base homeostasis", + "Metabolic acidosis", + "abnormal renal system morphology", + "abnormal hindlimb joint", + "abnormal leg", + "vessel", + "diaphysis", + "non-functional anatomical entity", + "thoracic segment organ", + "blood vessel", + "multi-limb segment region", + "kidney", + "articulation", + "endochondral element", + "pelvic complex", + "Aminoaciduria", + "organ system subdivision", "increased level of nitrogen molecular entity in independent continuant", - "Abnormality on pulmonary function testing", - "abnormality of anatomical entity physiology", - "abnormal nephron morphology", - "abnormality of respiratory system physiology", - "Abnormality of the skeletal system", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "abnormal limb", - "Abnormal renal physiology", - "curved anatomical entity", - "Abnormal nephron morphology", - "Hypophosphatemic rickets", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal metabolite independent continuant level", - "specifically dependent continuant", - "abnormality of cardiovascular system physiology", - "increased level of carboxylic acid in independent continuant", - "Abnormal DLCO", + "abnormal diaphysis morphology in the independent continuant", + "posterior region of body", + "multicellular anatomical structure", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "Organic aciduria", "Abnormal diaphysis morphology", - "lung fibrosis", + "Abnormal DLCO", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", "shape long bone", - "abnormal genitourinary system", - "abnormal hindlimb morphology", - "abnormal knee morphology", - "abnormal skeletal joint morphology", - "Abnormal blood phosphate concentration", + "lung fibrosis", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Phenotypic abnormality", + "zone of bone organ", + "Non-small cell lung carcinoma", + "skeletal joint", + "abnormal limb bone morphology", + "appendicular skeleton", + "limb endochondral element", + "limb skeleton subdivision", + "skeletal system", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "phenotype", + "organ part", + "phenotype by ontology source", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "amide", "Abnormality of limb bone", - "Abnormality of lower limb joint", - "increased independent continuant base level", - "Abnormal pulmonary interstitial morphology", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "increased level of chemical entity", - "abnormal hindlimb zeugopod", - "Abnormal urine protein level", - "abnormal homeostatic process", - "Abnormal cardiovascular system physiology", + "organism subdivision", + "respiratory tract", + "anatomical collection", + "All", + "abnormal lung morphology", + "Emphysema", + "multicellular organismal process", + "abnormal blood phosphate level", + "decreased level of chemical entity in blood", + "shape hindlimb zeugopod", + "phosphate ion homeostasis", + "long bone", + "independent continuant", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal skeletal system", + "abnormal upper urinary tract", + "musculoskeletal system", + "curvature anatomical entity", + "Abnormal knee morphology", "abnormal shape of continuant", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "Abnormal respiratory system physiology", + "subdivision of skeletal system", + "entity", + "bone element", + "paired limb/fin", + "polypeptide", + "Abnormality of bone mineral density", + "abnormal limb", + "Abnormality of limbs", + "curvature anatomical entity in independent continuant", + "Abnormality of limb bone morphology", + "abnormality of cardiovascular system physiology", + "limb", + "abnormal anatomical entity", + "zone of long bone", + "Hyperchloremic metabolic acidosis", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "abnormal appendicular skeleton morphology", "Abnormality of the lower limb", "curved anatomical entity in independent continuant", - "abnormal appendicular skeleton morphology", - "Abnormal respiratory system morphology", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "entity", - "abnormal limb bone morphology", - "abnormal hematopoietic system", - "Reduced bone mineral density", - "phenotype", - "Organic aciduria", - "decreased level of phosphate in independent continuant", - "abnormal independent continuant carboxylic acid level", - "Genu valgum", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "Abnormality of the upper urinary tract", - "shape anatomical entity in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "anatomical entity", + "nephron", "curved long bone", - "abnormal diaphysis morphology", - "abnormal anatomical entity morphology", + "occurrent", + "organ", + "Abnormality of the calf", + "paired limb/fin segment", + "Abnormality of the knee", + "Elevated urinary carboxylic acid", + "skeleton", + "Neoplasm by anatomical site", + "p-block molecular entity", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "vasculature", + "hindlimb zeugopod", + "Abnormal long bone morphology", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal knee", + "abnormal anatomical entity mass density", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "skeleton of limb", + "Abnormal pulmonary interstitial morphology", + "material anatomical entity", + "abnormal knee morphology", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "curved anatomical entity", + "increased level of protein polypeptide chain in urine", + "limb segment", "Abnormal joint morphology", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", + "lateral structure", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal diaphysis morphology", "Abnormal appendicular skeleton morphology", - "increased level of monosaccharide in urine", - "Abnormal skeletal morphology", - "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "Abnormality of acid-base homeostasis", - "Increased blood pressure", + "material entity", + "subdivision of skeleton", + "endochondral bone", + "leg", + "monoatomic ion", + "articular system", + "Hypophosphatemia", "curved hindlimb zeugopod", - "abnormal long bone morphology", - "abnormal phosphate level", - "abnormal nephron tubule morphology", + "nitrogen molecular entity", "abnormal limb morphology", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "abnormal independent continuant amino acid level", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "non-functional kidney", - "abnormal diaphysis morphology in the independent continuant", - "abnormality of kidney physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "abnormal renal system", - "Abnormal long bone morphology", - "Abnormality of the knee", - "Abnormal renal tubule morphology", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "curvature anatomical entity", - "abnormal skeletal system", - "quality", + "aldohexose", + "zone of organ", + "abnormal long bone morphology", + "abnormal skeletal joint morphology", + "lower limb segment", + "Genu valgum", + "skeletal element", + "zeugopod", + "chemical homeostasis", + "hindlimb joint", + "trunk", + "oxoacid derivative", + "Renal fibrosis", + "abnormal hindlimb morphology", + "abnormal independent continuant glucose level", "abnormal anatomical entity morphology in the pelvic complex", - "abnormal limb bone", - "Abnormal knee morphology", - "Abnormal respiratory system physiology", - "Abnormal homeostasis", + "abnormal hindlimb zeugopod, curved", + "epithelium", + "system", + "subdivision of tube", + "Abnormality of lower limb joint", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "abnormal independent continuant phosphate level", "Bowing of the legs", - "Abnormality of limb bone morphology", - "curvature anatomical entity in independent continuant", - "Abnormality of limbs", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity, curved", - "Glycosuria", - "Abnormality of the calf", + "Abnormality of the skeletal system", + "lung", + "subdivision of organism along main body axis", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", "abnormal respiratory system morphology", - "Renal insufficiency", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "increased level of amino acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "Abnormal lung morphology", - "abnormal vasculature", - "abnormal respiratory system", - "All", - "abnormal lung morphology", - "Hypophosphatemia", - "abnormal multicellular organism chemical entity level", + "viscus", + "circulatory system", + "excretory system", "abnormal independent continuant monoatomic ion level", - "increased level of protein polypeptide chain in urine", - "Emphysema", - "abnormal blood phosphate level", - "abnormal phosphate ion homeostasis", - "abnormal chemical homeostasis", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "epithelial tube", + "respiratory system", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "trunk region element", + "respiratory airway", + "abnormal kidney morphology", + "main body axis", + "organic acid", + "abnormal hindlimb zeugopod", + "ossification", "Abnormal circulating metabolite concentration", - "Bowing of the long bones", - "Abnormality of bone mineral density", - "Hyperchloremic acidosis", - "Elevated urinary carboxylic acid", - "abnormal hindlimb joint", - "abnormal leg", - "abnormal independent continuant phosphate level", - "Pulmonary fibrosis", - "abnormal independent continuant chemical entity level", - "decreased level of chemical entity in independent continuant", + "Abnormality of the respiratory system", + "knee", + "Hypophosphatemic rickets", + "increased level of glucose in urine", + "Decreased DLCO", + "body proper", + "lower respiratory tract", + "Abnormal cardiovascular system physiology", "Abnormal blood ion concentration", + "decreased level of chemical entity in independent continuant", "Decreased anatomical entity mass density", - "phenotype by ontology source", - "decreased level of chemical entity in blood", - "decreased level of chemical entity", - "Abnormality of blood and blood-forming tissues", - "Decreased DLCO", - "continuant", + "metabolic process", + "abnormal monoatomic ion homeostasis", "anatomical entity fibrosis", - "Neoplasm by anatomical site", - "abnormal knee", - "abnormal anatomical entity mass density", - "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "abnormal bone element mass density", - "Neoplasm", - "abnormal hindlimb zeugopod, curved", - "Rickets", - "Abnormal bone ossification", + "Abnormality of metabolism/homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "paired limb/fin skeleton", + "heteroatomic molecular entity", + "pnictogen molecular entity", + "abnormal chemical homeostasis", + "chemical entity", + "increased independent continuant acid level", + "organism substance", + "bodily fluid", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm of the lung", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "polyatomic entity", + "abnormality of respiratory system physiology", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "abnormal biological_process", + "abnormal role bodily fluid level", + "ion", + "phosphorus molecular entity", + "abnormal blood monoatomic ion level", + "respiration organ", + "increased bodily fluid acid level", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "appendicular skeletal system", + "abnormal chemical entity level", + "process", + "abnormal role independent continuant level", + "carbohydrate", + "biological_process", + "increased bodily fluid role level", + "phosphate", + "abnormal multicellular organism chemical entity level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", "abnormal blood chemical entity level", + "monoatomic entity", "abnormal acid independent continuant level", - "abnormal acid bodily fluid level", + "abnormality of kidney physiology", + "main group molecular entity", + "abnormal nephron morphology", + "multi organ part structure", + "Rickets", + "hemolymphoid system", + "abnormal bone element mass density", + "kidney epithelium", + "compound organ", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "abnormality of anatomical entity physiology", + "Decreased bone element mass density", "increased independent continuant role level", - "Abnormal urine pH", + "increased level of chemical entity", "increased level of chemical entity in independent continuant", + "abnormal acid bodily fluid level", "Acidosis", - "Abnormal renal insterstitial morphology", - "Abnormal tubulointerstitial morphology", - "Hyperchloremic metabolic acidosis", - "Abnormal urine metabolite level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "Metabolic acidosis", - "decreased level of phosphate in blood", - "abnormal role bodily fluid level", - "increased independent continuant acid level", + "increased level of chemical entity in bodily fluid", + "vascular system", + "increased level of chemical entity in urine", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "Abnormality on pulmonary function testing", + "continuant", + "protein polypeptide chain", + "peptide", + "abnormal role urine level", ], "has_phenotype_count": 14, "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": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "full_name": None, - "deprecated": None, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], - "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": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0009213", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group C", + "name": "Fanconi renotubular syndrome 1", "full_name": None, "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.", - "xref": ["DOID:0111087", "GARD:15168", "NCIT:C125704", "OMIM:227645", "UMLS:C3468041"], + "description": None, + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FA3", - "FACC", - "FANCC", - "Fanconi Anemia, complementation group type C", - "Fanconi anaemia complementation group type C", - "Fanconi anemia complementation group C", - "Fanconi anemia complementation group type C", - "Fanconi anemia, complementation group C", - "Fanconi pancytopenia type 3", - "Fanconi pancytopenia, type 3", - "facc", + "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:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0011940", - "HP:0000252", - "HP:0000957", - "HP:0000815", - "HP:0001017", - "HP:0000104", - "HP:0003974", - "HP:0000028", - "HP:0001876", - "HP:0000325", - "HP:0009778", - "HP:0001873", - "HP:0001511", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0003221", - "HP:0009943", - "HP:0005528", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001629", - "HP:0001909", - "HP:0000081", - "HP:0000085", - "HP:0001371", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", "HP:0004322", - "HP:0000365", - "HP:0020073", - "HP:0000486", - "HP:0003214", - "HP:0003213", - "HP:0000286", + "HP:0003126", + "HP:0000083", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Anterior wedging of T12", - "Microcephaly", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Anemic pallor", - "Renal agenesis", - "Absent radius", - "Cryptorchidism", - "Pancytopenia", - "Triangular face", - "Short thumb", - "Thrombocytopenia", - "Intrauterine growth retardation", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bone marrow hypocellularity", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Ventricular septal defect", - "Leukemia", - "Duplicated collecting system", - "Horseshoe kidney", - "Flexion contracture", + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", "Short stature", - "Hearing impairment", - "Hypopigmented macule", - "Strabismus", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Epicanthus", + "Low-molecular-weight proteinuria", + "Renal insufficiency", ], "has_phenotype_closure": [ - "HP:0000492", - "HP:0032039", - "UPHENO:0087058", - "UPHENO:0065599", - "HP:0030669", - "HP:0000286", - "UPHENO:0049964", - "HP:0003254", - "UPHENO:0049671", - "UPHENO:0049952", - "HP:0003214", - "HP:0012373", - "HP:0000549", - "UPHENO:0079828", - "UPHENO:0049586", - "HP:0020073", - "UPHENO:0080585", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0080352", + "CHEBI:32988", + "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:37622", + "CHEBI:16670", 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"UPHENO:0085195", - "UPHENO:0041467", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "HP:0000080", - "UPHENO:0076710", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0050113", - "HP:0000104", - "UPHENO:0002219", - "HP:0011843", - "HP:0011729", - "UPHENO:0020809", - "HP:0000957", - "HP:0009823", - "UPHENO:0087510", - ], - "has_phenotype_closure_label": [ - "abnormal zone of skin morphology", - "abnormal ocular adnexa", - "abnormal skin of head morphology", - "abnormal skin of face morphology", - "increased size of the anatomical entity in independent continuant", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "decreased size of the multicellular organism", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "Abnormality of connective tissue", - "abnormality of musculoskeletal system physiology", - "3-D shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm", - "Neoplasm by anatomical site", - "Abnormal eyelid morphology", - "Abnormal heart morphology", - "Hypopigmented macule", - "Abnormal cardiac septum morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal heart morphology", - "abnormal cardiac septum morphology", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "Internal hemorrhage", - "abnormal vasculature", - "Bone marrow hypocellularity", - "Flexion contracture", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", - "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "Abnormality of the orbital region", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "abnormal cardiovascular system", + "CHEBI:26216", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "UBERON:0011676", + "UBERON:0009569", + "GO:0003014", + "UBERON:0005172", + "CHEBI:78616", + "HP:0000077", + "UBERON:0004122", + "HP:0010935", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "HP:0010929", + "UPHENO:0051898", + "PR:000000001", + "UPHENO:0034199", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068247", + "GO:0055067", + "CHEBI:26217", + "UPHENO:0034438", + "UPHENO:0051958", + "CHEBI:25213", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103", + "CHEBI:33296", + "HP:0000002", + "HP:0033354", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0080659", + "UPHENO:0051645", + "HP:0003126", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "HP:0034359", + "UBERON:0000383", + "UPHENO:0051635", + "CHEBI:33674", + "UPHENO:0068058", + "CHEBI:50860", + ], + "has_phenotype_closure_label": [ + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "increased level of protein polypeptide chain in urine", + "carboxamide", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "peptide", + "decreased size of the anatomical entity in the independent continuant", "delayed growth", - "delayed biological_process", "Growth delay", - "decreased embryo development", - "abnormal embryo development", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "Abnormality of joint mobility", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "Abnormal ventricular septum morphology", - "decreased size of the anatomical entity in the independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Growth abnormality", + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", + "increased level of organic acid in urine", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "increased level of nitrogen molecular entity in independent continuant", + "molecule", + "Elevated urinary carboxylic acid", + "amino acid", + "increased level of carboxylic acid in independent continuant", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of protein", + "nitrogen molecular entity", + "protein", + "Abnormal circulating enzyme concentration or activity", + "organic amino compound", + "alkaline phosphatase, tissue-nonspecific isozyme", + "macromolecule", + "organooxygen compound", + "heteroorganic entity", + "increased level of organic molecular entity in independent continuant", + "Abnormal urine metabolite level", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", + "Hypophosphatemia", + "monoatomic ion", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", "decreased size of the anatomical entity", + "blood", + "inorganic ion", + "abnormal homeostatic process", + "decreased muscle organ strength", + "main body axis", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abnormal renal absorption", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", + "abnormality of anatomical entity height", + "metal atom", + "abnormal blood potassium atom level", + "increased level of rac-lactic acid in urine", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "chemical substance", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "phosphate ion homeostasis", + "racemate", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "abnormal chemical homeostasis", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "heteroatomic molecular entity", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "potassium atom", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "abnormal renal system", + "process", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "Metabolic acidosis", + "All", + "material entity", + "Acidosis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "Phenotypic abnormality", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "abnormal independent continuant carbohydrate level", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "homeostatic process", + "Abnormal enzyme concentration or activity", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "organochalcogen compound", + "abnormal anatomical entity", + "renal system", + "phenotype", + "hydrogen molecular entity", + "nephron tubule", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "decreased level of potassium atom in blood", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "abnormal urine glucose level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "skeletal system", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "genitourinary system", + "atom", + "renal tubule", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system process", + "multicellular anatomical structure", + "pnictogen molecular entity", + "obsolete monovalent inorganic cation homeostasis", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face morphology", - "abnormal face", - "Abnormal facial shape", - "Pancytopenia", - "increased anatomical entity length in independent continuant", - "abnormally decreased number of platelet", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormal bone marrow cell morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "abnormal eyelid morphology", - "Abnormal internal genitalia", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "abnormal ocular adnexa morphology", - "Absent forearm bone", - "absent forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "Epicanthus", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "2-D shape anatomical entity", - "Abnormality of limb bone morphology", - "Joint contracture", - "Abnormality of limbs", - "decreased multicellular organism mass", - "Vertebral wedging", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "cuneate vertebra", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", - "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "Thrombocytopenia", - "abnormal developmental process involved in reproduction", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "increased length of the anatomical entity", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormally localised anatomical entity in independent continuant", - "Abnormal tendon morphology", - "abnormally decreased functionality of the gonad", - "abnormal cardiac ventricle morphology in the heart", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "changed embryo development rate", - "Intrauterine growth retardation", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "Abnormality of the ocular adnexa", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", + "abnormal metabolite independent continuant level", "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "increased length of the epicanthal fold", - "shape anatomical entity in independent continuant", - "abnormal renal system", - "abnormal cardiac ventricle morphology", - "abnormal vertebral column morphology", - "Triangular face", - "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", - "phenotype by ontology source", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal tendon morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal granulocyte morphology", + "Aminoaciduria", + "organ system subdivision", "abnormal size of multicellular organism", - "abnormal opening of the anatomical entity", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Chromosomal breakage induced by crosslinking agents", - "abnormal vertebra morphology", - "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "abnormal incomplete closing of the interventricular septum", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "2-D shape anatomical entity in independent continuant", - "Finger aplasia", - "continuant", - "shape vertebra", - "Abnormality of brain morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal immune system", - "Abnormal vertebral morphology", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "Abnormality of the musculature", - "abnormal development of anatomical entity", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Abnormal joint physiology", - "Irregular hyperpigmentation", - "abnormal connective tissue", - "abnormal limb bone morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal cardiovascular system morphology", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal anatomical entity morphology", + "bone element", + "abnormal growth", + "independent continuant", + "abnormality of muscle organ physiology", + "urine", "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "decreased length of tendon", - "abnormal biological_process in independent continuant", - "abnormal vertebral column", - "abnormal shape of vertebra", - "triangular anatomical entity in independent continuant", - "abnormal musculature", - "abnormal nervous system", - "cuneate anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Anterior wedging of T12", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "Abnormal granulocyte count", - "triangular anatomical entity", - "shape anatomical entity", - "Abnormal form of the vertebral bodies", - "Abnormality of thrombocytes", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal cell morphology", - "abnormal nervous system morphology", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal anatomical entity morphology", + "occurrent", + "organ", + "chemical homeostasis", + "increased independent continuant acid level", + "chemical entity", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", "abnormal biological_process", - "abnormal bony vertebral centrum morphology", - "abnormal integument", - "Abnormality of the vertebral column", - "Macule", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormal cardiac ventricle morphology", - "Cafe-au-lait spot", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal interventricular septum morphology", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Ventricular septal defect", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "Abnormal musculoskeletal physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Hypogonadism", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal orbital region", - "Growth abnormality", - "Abnormal localization of kidney", - "Pallor", - "absent kidney in the independent continuant", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Absent radius", - "Aplasia/Hypoplasia of the radius", - "absent radius bone in the forelimb", - "absent anatomical entity in the skeletal system", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - ], - "has_phenotype_count": 38, - "highlight": None, - "score": None, - }, - { - "id": "MONDO:0010953", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", - "full_name": None, - "deprecated": None, - "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", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], - "provided_by": "phenio_nodes", - "in_taxon": None, - "in_taxon_label": None, - "symbol": None, - "synonym": [ - "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:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", - "HP:0000957", - "HP:0000815", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", - "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0001263", - "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001909", - "HP:0000081", - "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003214", - "HP:0003213", - "HP:0000085", - ], - "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", - "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Leukemia", - "Duplicated collecting system", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", - ], - "has_phenotype_closure": [ - "UPHENO:0082129", - "UPHENO:0041821", - "UPHENO:0049964", - "HP:0003254", - "UPHENO:0049671", - "UPHENO:0051124", - "UPHENO:0049952", - "HP:0003214", - "HP:0000365", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0012373", - "HP:0000549", - "UPHENO:0079828", - "UPHENO:0049586", - "UPHENO:0000543", - "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0052970", - "UPHENO:0075787", - "UPHENO:0080351", - "HP:0004742", - "HP:0011793", - "UPHENO:0080581", - "HP:0011028", - "HP:0000978", - "HP:0003213", - "UPHENO:0051097", - "HP:0011025", - "UPHENO:0082444", - "UPHENO:0020041", - "HP:0009942", - "HP:0005918", - "HP:0009998", - "HP:0011018", - "HP:0011314", - "HP:0004275", - "UPHENO:0084447", - "HP:0011017", - "HP:0002664", - "UPHENO:0078606", - "HP:0003221", - "UPHENO:0050116", - "HP:0001939", - "UPHENO:0050021", - "HP:0004377", - "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049748", - "HP:0003220", - "HP:0001263", - "HP:0002597", - "UPHENO:0049874", - "HP:0004325", - "HP:0004323", - "UPHENO:0054299", - "UPHENO:0010763", - "HP:0001507", - "HP:0001518", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0100887", - "HP:0000478", - "HP:0000271", - "HP:0000568", - "HP:0012372", - "UPHENO:0002910", - "HP:0000002", - "UPHENO:0069523", - "UPHENO:0003020", - "HP:0004312", - "UPHENO:0085263", - "HP:0001896", - "UPHENO:0012541", - "HP:0009381", - "UPHENO:0031839", - "UPHENO:0046411", - "UPHENO:0041465", - "UPHENO:0046505", - "UPHENO:0046624", - "UPHENO:0068971", - "HP:0000496", - "UPHENO:0087472", - "UPHENO:0046707", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", - "HP:0002818", - "UPHENO:0076718", - "HP:0002973", - "HP:0040072", - "HP:0031704", - "HP:0040070", - "UPHENO:0080187", - "HP:0000085", - "HP:0003953", - "UPHENO:0025945", - "HP:0006503", - "UPHENO:0081511", - "UPHENO:0087510", - "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0002597", - "UPHENO:0053298", - "UPHENO:0005597", - "UPHENO:0050101", - "HP:0009825", - "HP:0012874", - "HP:0000812", - "HP:0000811", - "HP:0000028", - "UPHENO:0041226", - "UPHENO:0086023", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0021474", - "UPHENO:0002595", - "HP:0009943", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0041629", - "UPHENO:0080382", - "HP:0001510", - "UPHENO:0086201", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "HP:0011927", - "UPHENO:0052778", - "UPHENO:0020950", - "UPHENO:0021800", - "UPHENO:0085874", - "HP:0008056", - "HP:0000025", - "HP:0005922", - "UPHENO:0084766", - "HP:0009601", - "HP:0100542", - "UPHENO:0041075", - "UPHENO:0050108", - "UPHENO:0085144", - "UPHENO:0088148", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0011121", - "UPHENO:0079826", - "HP:0009142", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "HP:0011276", - "UPHENO:0084448", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "UPHENO:0081435", - "UPHENO:0049588", - "UPHENO:0026023", - "HP:0012733", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0076724", - "UPHENO:0003055", + "abnormal role bodily fluid level", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "inorganic cation", + "increased level of chemical entity", + "renal absorption", + "carbon group molecular entity", + "metabolic process", + "material anatomical entity", + "muscle structure", + "Abnormality of the urinary system physiology", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "polyatomic entity", + "ion", + "phosphorus molecular entity", + "trunk", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "multicellular organismal process", + "abnormal blood phosphate level", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "Elevated circulating alkaline phosphatase concentration", + "abnormality of kidney physiology", + "main group molecular entity", + "biomacromolecule", + "p-block molecular entity", + "haemolymphatic fluid", + "Renal tubular dysfunction", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "carbohydrates and carbohydrate derivatives", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "nephron epithelium", + "uriniferous tubule", + "musculoskeletal system", + "abnormal upper urinary tract", + "organism subdivision", + "hematopoietic system", + "multicellular organism", + "Impaired renal tubular reabsorption of phosphate", + "excretory tube", + "lateral structure", + "trunk region element", + "Abnormality of the kidney", + "abdomen", + "subdivision of organism along main body axis", + "chalcogen molecular entity", + "Abnormal renal physiology", + "abnormal kidney", + "increased level of glucose in urine", + "body proper", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "oxoacid derivative", + "increased level of phosphate in urine", + "Abnormal blood cation concentration", + "abnormal blood potassium(1+) level", + "musculature", + "decreased role blood level", + "monovalent inorganic cation", + "abnormal role independent continuant level", + "metal cation", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "s-block element atom", + "s-block molecular entity", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "elemental potassium", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "abnormal phosphate level", + "decreased level of chemical entity", + "system process", + "abnormal independent continuant amino acid level", + "renal system process", + "anatomical entity", + "Abnormal renal tubular resorption", + "abnormal independent continuant chemical entity level", + "Abnormality of renal excretion", + "increased level of glucose in independent continuant", + "monosaccharide", + "organic molecular entity", + "oxygen molecular entity", + ], + "has_phenotype_count": 16, + "highlight": None, + "score": None, + }, + { + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "full_name": None, + "deprecated": None, + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], + "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": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": None, + "score": None, + }, + { + "id": "MONDO:0013566", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group L", + "full_name": None, + "deprecated": None, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", + "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "provided_by": "phenio_nodes", + "in_taxon": None, + "in_taxon_label": None, + "symbol": None, + "synonym": [ + "FANCL", + "FANCL Fanconi anaemia", + "FANCL Fanconi anemia", + "Fanconi Anemia, complementation Group 50", + "Fanconi Anemia, complementation group type 50", + "Fanconi anaemia caused by mutation in FANCL", + "Fanconi anaemia complementation group type L", + "Fanconi anemia caused by mutation in FANCL", + "Fanconi anemia complementation group L", + "Fanconi anemia complementation group type L", + "Fanconi anemia, complementation group L", + ], + "uri": None, + "iri": None, + "namespace": "MONDO", + "has_phenotype": [ + "HP:0007018", + "HP:0008551", + "HP:0040012", + "HP:0000582", + "HP:0000470", "HP:0009777", - "HP:0011297", - "UPHENO:0012274", - "UPHENO:0085118", - "HP:0001167", - "HP:0040064", - "UPHENO:0080662", - "UPHENO:0003116", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0020584", - "HP:0002813", - "HP:0011991", - "UPHENO:0074589", - "HP:0011354", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0088338", - "HP:0000081", - "UPHENO:0085873", - "HP:0000234", - "HP:0001933", - "UPHENO:0035025", - "UPHENO:0088321", - "UPHENO:0085194", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0001017", - "UPHENO:0011498", - "UPHENO:0026181", - "UPHENO:0084987", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", + "HP:0000957", + "HP:0002023", + "HP:0001510", + "HP:0000316", + "HP:0001776", + "HP:0000347", + "HP:0003974", + "HP:0001511", + "HP:0009892", + "HP:0000151", + "HP:0001263", + "HP:0003221", + "HP:0002032", + "HP:0011968", + "HP:0001321", + "HP:0000175", + "HP:0000054", + "HP:0000437", + "HP:0001903", + "HP:0000122", + "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089", + ], + "has_phenotype_label": [ + "Attention deficit hyperactivity disorder", + "Microtia", + "Chromosome breakage", + "Upslanted palpebral fissure", + "Short neck", + "Absent thumb", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", + "Cafe-au-lait spot", + "Anal atresia", + "Growth delay", + "Hypertelorism", + "Bilateral talipes equinovarus", + "Micrognathia", + "Absent radius", + "Intrauterine growth retardation", + "Anotia", + "Aplasia of the uterus", + "Global developmental delay", + "Chromosomal breakage induced by crosslinking agents", + "Esophageal atresia", + "Feeding difficulties", + "Cerebellar hypoplasia", + "Cleft palate", + "Micropenis", + "Depressed nasal tip", + "Anemia", + "Unilateral renal agenesis", + "Delayed CNS myelination", + "Microphthalmia", + "Wide nasal bridge", + "Bone marrow hypocellularity", + "Renal hypoplasia", + ], + "has_phenotype_closure": [ + "UPHENO:0081210", + "UPHENO:0087123", + "HP:0005528", + "UBERON:0000479", "HP:0002715", + "HP:0005561", + "UPHENO:0085195", + "HP:0012145", + "UPHENO:0087355", + "UPHENO:0087278", + "UPHENO:0006147", + "UPHENO:0006161", + "HP:0000431", + "UBERON:0008340", + "UPHENO:0081800", + "HP:0000568", + "HP:0100887", + "HP:0008056", + "UPHENO:0000552", + "GO:0048709", + "HP:0012448", + "UPHENO:0050372", + "GO:0048869", + "GO:0007399", + "GO:0032291", + "GO:0010001", + "GO:0022008", + "HP:0000122", + "UPHENO:0076779", + "UPHENO:0083952", + "UBERON:8450002", + "UPHENO:0026980", "UPHENO:0008593", - "UPHENO:0053580", - "UPHENO:0079876", - "HP:0006265", - "HP:0001909", - "UPHENO:0087123", - "UPHENO:0087089", - "HP:0000079", - "HP:0012638", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0076723", - "UPHENO:0085984", + "UBERON:0000916", + "UPHENO:0087427", + "GO:0030154", + "UBERON:0002113", + "UBERON:0011143", + "HP:0012130", + "CL:0000232", + "CL:0000763", + "GO:0014003", + "HP:0001877", + "UPHENO:0085118", + "UBERON:0002390", + "HP:0001903", + "UPHENO:0004459", "HP:0020047", - "HP:0011893", - "UPHENO:0087355", - "UPHENO:0002678", - "UPHENO:0049873", - "HP:0005561", + "UPHENO:0087430", + "UPHENO:0082454", + "UPHENO:0041458", + "UPHENO:0041080", + "UPHENO:0075219", + "HP:0005105", + "UBERON:0000004", + "HP:0000366", + "UBERON:0002268", + "UPHENO:0082467", + "UPHENO:0081585", + "UPHENO:0082356", + "UPHENO:0041203", + "HP:0000436", + "UBERON:0000989", + "UBERON:0001008", + "UPHENO:0081320", + "HP:0000032", + "HP:0001871", + "UBERON:0000079", + "UBERON:0008811", + "UBERON:0004053", "UPHENO:0080209", + "UPHENO:0068843", + "HP:0008736", + "HP:0010935", + "UPHENO:0002907", + "HP:0003241", "UPHENO:0087802", - "HP:0001000", - "HP:0045060", - "UPHENO:0085076", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0000951", - "HP:0012210", - "UPHENO:0076779", - "UPHENO:0085344", - "UPHENO:0081423", - "UPHENO:0080325", + "HP:0000054", + "HP:0010461", + "UPHENO:0050406", + "HP:0000811", + "UBERON:0003101", + "UPHENO:0002948", + "UPHENO:0087643", + "UBERON:0001716", + "UBERON:0002553", + "UBERON:0001709", + "UPHENO:0033635", + "UPHENO:0075655", + "HP:0000175", + "UBERON:0004089", + "UPHENO:0076786", + "UBERON:0000464", + "HP:0000202", + "NCBITaxon:6072", + "UBERON:0000063", + "UBERON:0000073", + "NCBITaxon:131567", + "NCBITaxon:1", + "UPHENO:0076720", + "NCBITaxon:33154", + "UPHENO:0020013", + "UBERON:0002028", + "UBERON:0002037", + "UBERON:0001895", + "UPHENO:0081601", + "UBERON:0004732", + "HP:0011283", + "NCBITaxon:2759", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", + "UPHENO:0080089", + "HP:0002977", + "HP:0011968", + "UPHENO:0063603", + "HP:0002589", + "HP:0003221", + "HP:0001263", + "UPHENO:0020950", + "UPHENO:0003053", "UPHENO:0002642", - "HP:0001627", - "UPHENO:0076740", - "UPHENO:0015280", - "HP:0000001", - "HP:0007400", - "HP:0001892", - "HP:0000315", - "UPHENO:0021561", - "UPHENO:0085189", - "UPHENO:0080200", - "UPHENO:0085371", - "HP:0025354", - "UPHENO:0049367", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0002240", - "UPHENO:0052178", - "HP:0008678", - "HP:0000486", - "HP:0001172", - "HP:0000118", - "HP:0009997", - "HP:0011446", - "HP:0033127", + "UPHENO:0087547", + "HP:0000008", + "UBERON:0003134", + "UBERON:0000995", + "UPHENO:0005170", + "HP:0000130", + "UBERON:0000990", + "UPHENO:0003055", + "HP:0000151", + "UBERON:0005156", + "UPHENO:0025875", + "HP:0010460", + "UBERON:0003100", + "UPHENO:0009305", + "UBERON:0012128", + "GO:0009790", + "UPHENO:0080393", + "CL:0001035", + "UPHENO:0050034", + "UPHENO:0005642", + "UPHENO:0005433", + "UPHENO:0052778", + "UPHENO:0002832", + "UPHENO:0041098", + "UBERON:0013515", + "GO:0032502", + "UPHENO:0068984", + "UPHENO:0050108", + "UBERON:0001423", + "UBERON:0003607", + "UBERON:0002405", + "UBERON:0003606", + "HP:0003974", + "UPHENO:0076718", + "HP:0040070", + "HP:0009825", + "HP:5201015", + "HP:0009822", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0000167", + "UPHENO:0086956", + "HP:0009823", + "UPHENO:0026023", + "UBERON:0003466", + "UBERON:0002471", + "UBERON:0010741", + "HP:0006501", + "HP:0025461", + "UPHENO:0009399", + "UBERON:0002386", + "UPHENO:0062515", + "UPHENO:0087585", + "UPHENO:0079872", + "UPHENO:0009341", + "HP:0003953", + "UBERON:0000165", + "UPHENO:0002828", + "UBERON:0002514", + "UBERON:0007842", + "UPHENO:0081141", + "UBERON:0004768", + "UPHENO:0083646", + "HP:0012447", + "HP:0034261", + "HP:0031816", + 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"UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "HP:0000080", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0050113", - "HP:0000104", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0001034", + "UPHENO:0076740", "HP:0000953", - "UPHENO:0088162", - "HP:0012130", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "UPHENO:0078606", + "HP:0006265", + "HP:0002023", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", "UPHENO:0087339", - "HP:0011873", - "UPHENO:0086049", - "UPHENO:0085302", - "UPHENO:0049985", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0078729", - "UPHENO:0026128", - "HP:0000119", - "HP:0000152", - "UPHENO:0005016", - "UPHENO:0005651", + "HP:0034915", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000466", + "HP:0011400", + "HP:0012372", + "HP:0000478", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0005656", + "HP:0001776", + "HP:0000925", + "UBERON:0008784", + "UBERON:0010709", + "UPHENO:0072195", + "HP:0002814", + "HP:0006496", + "UPHENO:0050008", + "UPHENO:0003070", + "UPHENO:0081575", + "HP:0011821", + "HP:0009118", ], "has_phenotype_closure_label": [ - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", - "delayed biological_process", - "Growth delay", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", - "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "decreased size of the kidney", + "bone marrow", + "bone cell", + "abnormal immune system", + "Abnormality of bone marrow cell morphology", + "tissue", + "Bone marrow hypocellularity", + "abnormal immune system morphology", + "snout", + "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "abnormal snout morphology", + "increased width of nasal bridge", + "increased width of anatomical entity", + "Abnormality of globe size", + "Aplasia/Hypoplasia affecting the eye", + "delayed central nervous system myelination", + "abnormal biological_process in central nervous system", + "Abnormal myelination", + "central nervous system myelination", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal hematopoietic system morphology", + "system development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "cellular developmental process", + "nervous system development", + "glial cell differentiation", + "abnormal central nervous system myelination in independent continuant", + "absent kidney", + "abnormal kidney morphology", + "Abnormality of the upper urinary tract", + "Abnormality of the kidney", + "excretory system", + "abnormal upper urinary tract", + "abdomen element", + "cavitated compound organ", + "absent anatomical entity in the renal system", + "abnormal renal system", + "renal system", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormal myeloid cell morphology", + "hematopoietic system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "abnormal cell morphology", + "abnormal erythrocyte morphology", + "abnormal hematopoietic system", + "flat nose tip", + "Abnormal nasal tip morphology", + "olfactory organ", + "abnormal size of eyeball of camera-type eye", + "nose tip", + "nose", + "abnormal nose morphology", + "Abnormality of the nose", + "flattened anatomical entity in independent continuant", + "Abnormal external nose morphology", + "curvature anatomical entity", + "decreased size of the external male genitalia", + "Abnormal external genitalia", + "external male genitalia", + "male reproductive system", + "Abnormality of male external genitalia", + "Hypoplasia of penis", + "Abnormal renal morphology", + "abnormal external genitalia", + "abnormal penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "abnormal male reproductive system morphology", + "Craniofacial cleft", + "Abnormal oral cavity morphology", + "anatomical cavity", + "abnormal roof of mouth morphology", + "Orofacial cleft", + "abnormal oral cavity morphology", + "abnormal incomplete closing of the secondary palate", + "abnormal midface morphology", + "Eumetazoa", + "hindbrain", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "cerebellum hypoplasia", + "segmental subdivision of nervous system", + "regional part of brain", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "root", + "Abnormal midface morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "abnormal metencephalon morphology", + "abnormality of digestive system physiology", + "Feeding difficulties", + "Esophageal atresia", + "esophagus atresia", "Chromosomal breakage induced by crosslinking agents", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Neurodevelopmental delay", - "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "Abnormality of the orbital region", - "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "Abnormal upper limb bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", + "Neurodevelopmental abnormality", + "abnormal female reproductive system", + "abnormal kidney", + "abnormal reproductive system", + "internal genitalia", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "Wide nasal bridge", + "abnormal internal female genitalia morphology", + "female organism", + "bone marrow cell", + "internal female genitalia", + "genitourinary system", + "abnormal uterus", + "aplasia or hypoplasia of uterus", + "reproductive structure", + "Abnormal morphology of female internal genitalia", + "Aplasia of the uterus", + "female reproductive system", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "Abnormality of the uterus", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", + "Anotia", + "absent anatomical entity in the head", + "absent external ear in the head", + "absent external ear", + "abnormal embryo development", + "Intrauterine growth retardation", + "abnormal secondary palate morphology", + "abnormal developmental process", + "decreased developmental process", + "Hypoplastic male external genitalia", + "anatomical structure development", + "multicellular organism development", + "decreased embryo development", + "abnormal genitourinary system", + "changed developmental process rate", + "changed embryo development rate", + "decreased qualitatively developmental process", + "arm bone", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", + "Aplasia involving bones of the upper limbs", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "limb long bone", + "absent radius bone in the forelimb", + "abnormal limb long bone morphology", "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "zeugopod", "Aplasia/hypoplasia involving forearm bones", - "Abnormality of the vasculature", "aplastic forelimb zeugopod bone", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "Abnormality of the cell cycle", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", "Aplasia/Hypoplasia of the radius", + "embryo development", "abnormal radius bone morphology", - "Absent radius", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", - "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", + "Aplasia involving bones of the extremities", + "Micrognathia", + "abnormal jaw skeleton morphology", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "dermal bone", + "jaw skeleton", + "facial skeleton", + "mandible", + "immune system", + "facial bone", + "Hypoplastic facial bones", + "abnormal mouth", + "abnormal hematopoietic cell morphology", + "primary subdivision of cranial skeletal system", + "primary subdivision of skull", + "cranial skeletal system", + "facial bone hypoplasia", "Abnormality of the genital system", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "abnormal multicellular organismal reproductive process", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", + "intramembranous bone", + "abnormal facial skeleton morphology", + "abnormal nose", + "Aplasia/Hypoplasia of the mandible", + "Abnormal appendicular skeleton morphology", + "Cleft palate", + "behavior", + "abnormal manus morphology", + "pectoral appendage skeleton", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal arm", + "skeletal element", + "system", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "bone of dorsum", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "bone element", + "dorsum", + "cervical region", + "organ system subdivision", + "Abnormality of the anus", + "paired limb/fin skeleton", + "vertebral column", "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", + "abnormal pes morphology", + "decreased length of anatomical entity in independent continuant", + "Abnormality of the musculoskeletal system", "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", + "segment of manus", + "protein-containing material entity", + "cervical vertebra", + "membrane bone", + "abnormal cervical vertebra", + "dentary", + "appendage", + "abnormal vertebral column", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "anatomical collection", "All", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", + "increased qualitatively biological_process", + "skeletal system", + "Abnormality of the vertebral column", + "Macule", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Abnormal eyelid morphology", + "skeleton", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "Abnormality of limbs", + "paired limb/fin segment", + "orbital region", + "abnormal anatomical entity morphology in the manus", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "upper jaw region", + "Abnormality of the ocular adnexa", + "simple eye", + "cellular metabolic process", + "Atypical behavior", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal orbital region", + "ensheathment of neurons", + "regulation of cellular process", + "ocular adnexa", + "camera-type eye", + "abnormal face", + "acropodium region", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "Renal agenesis", + "abnormal respiratory system", + "secondary palate", + "organism", + "irregular bone", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "subdivision of skeleton", + "endochondral bone", + "Abnormality of the ear", + "eyelid", + "decreased size of the penis", + "Abnormality of the lower limb", + "Growth abnormality", + "axial skeletal system", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormal anus morphology", + "Abnormality of the face", + "manual digit 1", + "autopodial extension", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "negative regulation of biological process", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "sensory system", + "abnormal nervous system", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", + "Abnormal forearm morphology", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "Abnormal skeletal morphology", + "forelimb", + "material anatomical entity", + "abnormal metabolic process", + "Depressed nasal tip", + "Abnormality of mental function", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "abnormal eyelid morphology", + "manus", + "Abnormality of digestive system morphology", + "radius endochondral element", + "abnormal behavior", "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Abnormal testis morphology", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "Hematological neoplasm", + "roof of mouth", + "Abnormality of the orbital region", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "thoracic cavity element", + "Abnormal neck morphology", + "negative regulation of gene expression", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "posterior region of body", + "chromatin organization", + "organ part", + "decreased size of the external ear", + "Anemia", + "radius bone", "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal tracheobronchial morphology", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", - "continuant", - "Azoospermia", - "Abnormality of brain morphology", - "Abnormal forearm morphology", + "Hyperactivity", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "craniocervical region", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "response to stimulus", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "female reproductive organ", + "long bone", + "negative regulation of biosynthetic process", + "material entity", + "pelvic region element", + "abnormal ocular adnexa", + "abnormal location of ear", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", "abnormal anatomical entity", - "abnormal immune system", - "Short stature", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", + "continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal DNA metabolic process", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "behavior process", + "decreased size of the mandible", + "absent manual digit", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "aplasia or hypoplasia of ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "Finger aplasia", + "Reduced impulse control", + "abnormal location of external ear", + "forelimb zeugopod bone", + "nervous system", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "ear", + "anatomical entity hypoplasia in face", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "pelvic region of trunk", + "macromolecule metabolic process", + "dermal skeletal element", + "subdivision of organism along main body axis", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "Microtia", + "Renal hypoplasia", + "bone of lower jaw", + "mandible hypoplasia", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", + "aplasia or hypoplasia of external ear", + "pes", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "non-connected functional system", + "abnormal size of anatomical entity", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "Attention deficit hyperactivity disorder", + "abnormal leg", "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", + "aplasia or hypoplasia of anatomical entity", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", + "Eukaryota", + "negative regulation of cellular metabolic process", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "absent digit", + "abnormal head bone morphology", + "dorsal part of neck", + "Abnormal pinna morphology", + "external ear", + "Aplasia/Hypoplasia of the ear", + "Abnormality of the skeletal system", + "trachea", + "curvature anatomical entity in independent continuant", + "abnormal limb", + "negative regulation of cellular process", + "Abnormality of head or neck", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "regulation of biological process", + "lateral structure", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "abnormal cellular process", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "anterior region of body", + "aplastic anatomical entity", + "main body axis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "abnormal opening of the anatomical entity", + "dorsal region element", + "abnormal primary metabolic process", + "body proper", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "decreased size of the anatomical entity in the independent continuant", + "protein-DNA complex organization", + "vestibulo-auditory system", + "axon ensheathment in central nervous system", + "eye", + "compound organ", + "cellular process", + "Abnormal digit morphology", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal face morphology", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "cellular component organization", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "neurogenesis", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "lower jaw region", "abnormal digit", - "Microphthalmia", + "thoracic segment of trunk", + "Abnormality of metabolism/homeostasis", + "visual system", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "anatomical conduit", + "abnormal limb morphology", + "paired limb/fin", + "mesoderm-derived structure", + "developmental process", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "autopod region", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of the thumb", + "cell differentiation", + "appendicular skeletal system", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "arm", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "forelimb skeleton", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "dermatocranium", + "pectoral complex", + "digit", + "abnormal female reproductive system morphology", "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "abnormal testis morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", + "digit 1 plus metapodial segment", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "multi-limb segment region", + "agenesis of anatomical entity", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "external soft tissue zone", + "digit plus metapodial segment", + "abnormally increased number of brain ventricle in the independent continuant", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "skeleton of lower jaw", + "abnormal digit morphology", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "Delayed myelination", "Abnormality of skin pigmentation", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of the head", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "abnormal heart morphology", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", + "shape nose tip", + "Abnormality of globe location", + "limb bone", + "cell development", + "skeleton of manus", + "Hypertelorism", + "bone element hypoplasia in independent continuant", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Localized skin lesion", - "abnormal platelet", - "Cafe-au-lait spot", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "Hypoplastic sacrum", + "abnormal fused sacrum morphology", + "Aplasia/Hypoplasia of the sacrum", + "bony pelvis", + "Delayed CNS myelination", + "fused sacrum", + "fused sacrum hypoplasia", + "skull", + "limb skeleton subdivision", + "Aplasia/Hypoplasia involving the vertebral column", + "reproductive system", + "sacral region", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "Short attention span", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "pelvic appendage", + "respiratory tube", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "Pancytopenia", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Hypogonadism", - "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", + "abnormal respiratory tube morphology", + "subdivision of tube", + "Abnormality of the cervical spine", + "abnormal digestive system", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "digestive tract", + "oral cavity", + "Morphological abnormality of the gastrointestinal tract", + "Neoplasm", + "Tracheoesophageal fistula", + "abnormal esophagus morphology", + "pectoral appendage", + "regulation of gene expression", + "respiratory system", + "programmed DNA elimination", + "obsolete cell", + "digestive system", + "penis", + "digestive system element", + "kidney", + "abnormal biological_process", + "Growth delay", + "respiratory airway", + "tube", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormal tracheal morphology", + "thoracic segment organ", + "vertebral element", + "viscus", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal bone marrow cell morphology", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "Anemia", - "abnormal bone marrow cell", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Generalized abnormality of skin", - "abnormal internal genitalia", + "Neoplasm by anatomical site", + "Abnormal esophagus morphology", + "Abnormality of the respiratory system", + "abnormal tracheobronchial tree morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "myelination", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "abnormal brain morphology", + "organism substance", + "ventricular system of central nervous system", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "abnormal anus morphology", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormal cell morphology", + "lower limb segment", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormality of limb bone", + "central nervous system", + "anatomical point", + "ventricle of nervous system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "abnormal nervous system morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "abnormal anatomical entity topology in independent continuant", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "Decreased external ear position", + "external nose", "changed biological_process rate", "increased biological_process in skin of body", - "absent germ cell", + "abnormal external ear", + "increased biological_process", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the integument", + "Neurodevelopmental delay", + "abnormal skin of body", + "integumental system", + "integument", + "abnormal anatomical entity morphology", + "increased pigmentation", + "changed biological_process rate in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "reproductive organ", + "abnormal skull morphology", + "abnormal palpebral fissure", + "anus atresia", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "delayed growth", + "abnormal location of eyeball of camera-type eye", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Low-set ears", + "Abnormal jaw morphology", + "abnormal head", + "jaw region", + "cell", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone", ], - "has_phenotype_count": 32, + "has_phenotype_count": 36, "highlight": None, "score": None, }, { - "id": "MONDO:0013248", + "id": "MONDO:0014638", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi anemia complementation group T", "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", "OMIM:613390", "UMLS:C3150653"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", + "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], "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", + "FANCT", + "Fanconi Anemia, complementation group type T", + "Fanconi anaemia caused by mutation in UBE2T", + "Fanconi anaemia complementation group type T", + "Fanconi anemia caused by mutation in UBE2T", + "Fanconi anemia complementation group type T", + "Fanconi anemia, complementation group T", + "UBE2T Fanconi anaemia", + "UBE2T Fanconi anemia", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", - "HP:0002984", - "HP:0000126", - "HP:0000028", + "HP:0004808", + "HP:0001876", + "HP:0001873", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0005528", + "HP:0009942", + "HP:0001903", + "HP:0003221", "HP:0004322", - "HP:0001245", - "HP:0003774", - "HP:0025023", + "HP:0000365", + "HP:0010628", ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", + "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Bone marrow hypocellularity", + "Duplication of thumb phalanx", + "Anemia", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Hearing impairment", + "Facial palsy", ], "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", - "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", + "UBERON:0004473", + "UBERON:0000010", + "UBERON:0002376", + "HP:0012638", + "HP:0001291", + "UPHENO:0076772", + "UBERON:0001577", + "UPHENO:0076702", + "UPHENO:0002908", + "UBERON:0015789", + "UPHENO:0080556", + "UPHENO:0076722", + "UPHENO:0002910", + "UPHENO:0087907", + "UBERON:0001021", + "UBERON:0005162", + "HP:0001324", + "UPHENO:0076710", + "HP:0410008", + "UBERON:0000122", + "UPHENO:0004523", + "UPHENO:0081709", + "UPHENO:0078730", + "HP:0011799", + "UPHENO:0080555", + "UBERON:0014892", + "UBERON:0001785", + "UBERON:0000383", + "UBERON:0034713", + "UPHENO:0002816", + "UPHENO:0003587", + "UPHENO:0086589", + "UBERON:0004456", + "GO:0050877", + "UBERON:0002105", + "HP:0000234", + "UPHENO:0002764", + "GO:0050954", + "UPHENO:0050620", + "UPHENO:0002332", + "UBERON:0000033", + "UBERON:0001032", + "UPHENO:0005518", + "HP:0000152", + "UBERON:0007811", + "UBERON:0000020", + "GO:0007600", + "HP:0011804", + "GO:0032501", + "UPHENO:0052970", + "UBERON:0001016", + "UPHENO:0080377", "HP:0001510", - "UPHENO:0086201", - "HP:0000811", - "UPHENO:0074228", - "UPHENO:0001005", - "UPHENO:0002597", - "HP:0011793", - "UPHENO:0076776", - "HP:0006503", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "UPHENO:0002839", - "BFO:0000002", - "UPHENO:0053298", - "HP:0004322", - "UPHENO:0002833", - "UPHENO:0080099", - "HP:0030680", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0046411", + "UPHENO:0000543", + "UPHENO:0069254", + "HP:0000759", + "UPHENO:0049874", + "HP:0000002", + "UBERON:0001456", + "UPHENO:0000541", "UPHENO:0080351", - "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "HP:0005773", - "HP:0001155", - "UPHENO:0077426", - "UPHENO:0084771", - "HP:0005922", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0021561", - "HP:0009821", - "HP:0025354", - "UPHENO:0080126", - "UPHENO:0076810", - "HP:0011844", - "UPHENO:0080079", - "HP:0009601", "HP:0001507", - "UPHENO:0076703", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", - "HP:0009824", - "UPHENO:0084448", - "UPHENO:0086700", - "UPHENO:0081204", - "HP:0001245", - "HP:0004378", - "HP:0000001", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0001939", - "UPHENO:0001003", - "UPHENO:0012274", - "UPHENO:0086644", - "HP:0011314", + "HP:0003220", + "GO:0050794", + "GO:0007605", + "GO:0019222", + "GO:0043170", + "GO:0006139", + "GO:0006725", + "GO:0016043", + "GO:0010629", + "BFO:0000015", + "UPHENO:0050021", "UPHENO:0050121", - "UPHENO:0085875", - "HP:0009603", - "UPHENO:0046538", - "HP:0001167", - "HP:0040064", - "UPHENO:0076779", + "HP:0000598", + "GO:0010468", + "GO:0031327", + "GO:0031326", + "UPHENO:0052231", + "GO:0009890", + "UPHENO:0002320", + "GO:0031324", + "HP:0003221", + "UPHENO:0049990", + "HP:0000365", + "GO:0005623", + "GO:0031049", + "UBERON:0013701", + "GO:0050789", + "UBERON:0001015", + "GO:0071840", + "GO:0008150", + "UPHENO:0049748", + "GO:0031052", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "GO:0008152", + "GO:0009987", "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0068971", - "UPHENO:0078452", - "UPHENO:0001002", - "UPHENO:0080362", - "HP:0011297", - "HP:0001626", - "HP:0003220", - "UPHENO:0011498", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", + "GO:0006996", + "HP:0001939", "UPHENO:0050113", - "HP:0034058", - "UPHENO:0086128", - "UPHENO:0049587", - "HP:0006501", - "UPHENO:0002708", - "HP:0000032", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0001197", - "UPHENO:0050021", - "HP:0045060", - "HP:0034915", + "HP:0012130", + "UPHENO:0088162", + "UPHENO:0081700", + "UBERON:0015025", + "HP:0009381", + "UBERON:0003606", + "UBERON:0005451", + "UPHENO:0086633", + "UBERON:0002371", + "UBERON:0010708", + "UBERON:0012354", + "HP:0010827", + "HP:0000271", + "CL:0000329", + "UPHENO:0002905", + "CL:0001035", + "CL:0000151", + "UPHENO:0076740", + "GO:0090304", + "UPHENO:0015280", + "GO:0071704", + "CL:0000219", + "UBERON:0006058", + "HP:0025461", + "HP:0006265", + "UBERON:0034923", + "UPHENO:0020584", + "UBERON:0002091", + "UBERON:0001436", + "UPHENO:0046411", + "UBERON:0013702", + "HP:0002813", + "UPHENO:0076675", + "GO:1901360", "UPHENO:0002830", - "UPHENO:0086682", - "HP:0025033", - "UPHENO:0050845", - "BFO:0000020", - "UPHENO:0081466", + "UBERON:0004249", + "UPHENO:0011498", "HP:0040012", - "HP:0000028", - "UPHENO:0049748", - "UPHENO:0076723", - "UPHENO:0002647", - "UPHENO:0049873", - "HP:0000083", - "UPHENO:0026506", - "HP:0000027", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", - "UPHENO:0026181", - "HP:0003241", + "UPHENO:0086005", + "UBERON:0004765", + "UBERON:0000467", + "HP:0005922", + "UBERON:0001647", + "HP:0000924", + "HP:0010987", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0085068", + "UBERON:5001463", + "GO:0034641", + "HP:0011893", + "CL:0002092", + "HP:0020047", + "UBERON:0012140", + "CL:0000764", + "CL:0000458", + "CL:0000763", + "UBERON:0002204", + "HP:0030319", + "UPHENO:0020041", + "HP:0001873", + "UPHENO:0084987", + "UPHENO:0075195", + "UPHENO:0086173", + "GO:0006807", + "UPHENO:0006910", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0087355", + "UPHENO:0082875", + "GO:0006259", + "UBERON:0001474", + "UBERON:0002398", + "HP:0010628", + "UPHENO:0085195", + "UPHENO:0087369", + "UBERON:0012475", + "HP:0001881", + "UPHENO:0085344", + "UPHENO:0001005", + "HP:0000707", + "UPHENO:0005116", + "UPHENO:0086172", + "HP:0009115", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0087501", + "BFO:0000004", + "UBERON:0015024", + "UPHENO:0002964", + "UBERON:0002101", + "UBERON:0010707", + "HP:0001167", + "HP:0040064", + "HP:0012639", + "HP:0000364", + "BFO:0000002", + "UBERON:0006048", + "CL:0000000", + "HP:0001871", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0002470", + "PATO:0000001", + "UBERON:0011249", + "GO:0065007", + "HP:0009602", + "UPHENO:0085070", + "HP:0011873", + "CL:0000232", + "UPHENO:0087339", + "HP:0011805", + "HP:0002488", "UPHENO:0078606", "HP:0002664", - "UPHENO:0076727", - "HP:0006265", - "HP:0011425", - "UPHENO:0086635", - "HP:0033127", - "UPHENO:0002595", - "UPHENO:0003055", - "HP:0011805", - "HP:0009777", - "UPHENO:0026183", - "HP:0040068", - "HP:0040070", - "UPHENO:0009382", - "UPHENO:0049990", "UPHENO:0076724", - "HP:0009381", - "UPHENO:0088186", - "HP:0009815", - "HP:0000924", - "UPHENO:0079876", - "UPHENO:0063639", - "UPHENO:0002816", - "UPHENO:0053580", - "HP:0001172", + "UBERON:0000061", + "UPHENO:0087123", + "HP:0001909", + "UBERON:0015063", + "UBERON:0010959", + "UBERON:0008229", + "UBERON:0000465", + "CL:0000988", + "UPHENO:0050845", + "HP:0004377", + "UPHENO:0081423", + "UBERON:0015203", + "BFO:0000040", + "HP:0001877", + "UBERON:0001463", + "UBERON:0005090", + "UBERON:0000468", + "HP:0011297", + "HP:0004275", + "HP:0003011", + "HP:0002715", + "CL:0000081", "HP:0000118", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0081790", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0046505", + "CL:0002242", + "HP:0032251", + "UPHENO:0002433", + "CL:0000233", "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0040072", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "UPHENO:0020041", - "UPHENO:0086198", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076718", - "UPHENO:0075902", - "UPHENO:0046624", - "HP:0002023", - "HP:0002818", + "UBERON:0010000", + "UBERON:0002390", + "HP:0011793", + "HP:0004808", + "UPHENO:0002948", + "UBERON:0002544", + "UBERON:5102389", + "HP:0012145", + "UBERON:0002102", + "UPHENO:0085302", + "GO:0044238", + "UPHENO:0088170", + "UPHENO:0001001", + "UPHENO:0076703", + "BFO:0000020", + "UBERON:0010314", + "UBERON:0001062", + "HP:0025354", + "UPHENO:0085371", + "HP:0045010", + "CL:0000457", + "UPHENO:0001002", + "HP:0045060", + "GO:0071824", + "UPHENO:0021800", + "UPHENO:0076692", + "HP:0001876", + "UPHENO:0002536", + "UPHENO:0088166", "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0002751", - "UPHENO:0079872", - "UPHENO:0012541", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0049940", - "HP:0010935", - "HP:0010944", - "UPHENO:0001072", - "UPHENO:0005651", - "UPHENO:0084132", - "UPHENO:0084124", - "HP:0008669", - "HP:0012210", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "HP:0010945", - "UPHENO:0080377", - "HP:0034242", - "UPHENO:0053644", - "UPHENO:0002786", - "UPHENO:0075893", - "HP:0000079", - "UPHENO:0001478", - "UPHENO:0002598", - "UPHENO:0081792", - "HP:0000126", - "UPHENO:0005597", - "UPHENO:0085194", - "HP:0004097", - "HP:0000025", - "UPHENO:0020950", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "HP:0100871", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "HP:0012243", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0049970", - "UPHENO:0049701", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", - "UPHENO:0052178", - "UPHENO:0087802", - "UPHENO:0085873", - "UPHENO:0081755", + "HP:0009778", + "HP:0006496", + "UBERON:0001434", + "UBERON:0000479", + "UBERON:5006048", + "CL:0000255", + "GO:0010558", + "UBERON:0008785", + "UPHENO:0004508", + "UBERON:0002193", + "HP:0009142", + "UBERON:0000062", + "UPHENO:0002903", + "HP:0011875", + "UBERON:0011779", + "UPHENO:0077426", "UPHENO:0087006", - "HP:0011961", - "UPHENO:0050101", - "UPHENO:0082875", + "UPHENO:0085984", + "UPHENO:0075159", + "UPHENO:0002880", + "UBERON:0015212", + "GO:0046483", + "UPHENO:0084766", + "UPHENO:0086049", + "UBERON:5002389", + "GO:0010556", + "PR:000050567", + "UBERON:0010538", + "UBERON:0004710", + "UPHENO:0084448", + "GO:0044237", + "UBERON:0010363", + "UPHENO:0002844", + "UPHENO:0049587", + "UBERON:0019231", + "HP:0006824", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0001630", + "HP:0033127", + "UPHENO:0086635", + "UBERON:0012139", + "UPHENO:0012541", "UPHENO:0046707", - "HP:0000080", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", + "HP:0009601", + "UPHENO:0084928", + "UBERON:0003607", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0050625", + "RO:0002577", + "UBERON:0000475", + "UBERON:0012151", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002708", + "UPHENO:0046505", + "UBERON:0013700", + "UBERON:0011250", + "UPHENO:0002896", + "UPHENO:0049873", + "UBERON:0003620", + "HP:0005561", + "UBERON:0000153", + "UBERON:5002544", + "UBERON:0010712", + "UPHENO:0046624", + "UPHENO:0076718", + "UPHENO:0076723", + "UPHENO:0080099", + "CL:0000738", + "UBERON:0005881", + "UPHENO:0068971", + "GO:0040007", + "UBERON:0001460", + "UBERON:0003221", + "UPHENO:0084763", + "UBERON:0012358", + "UPHENO:0086045", + "UPHENO:0076727", + "UBERON:0010758", + "UPHENO:0079872", + "UBERON:0007272", + "UPHENO:0004459", + "UBERON:0002428", + "HP:0000001", + "UBERON:0001442", + "UBERON:0019221", + "UBERON:0002389", + "UBERON:0001033", + "UBERON:0001690", + "UBERON:0010740", + "GO:0031323", + "UBERON:0002513", + "UBERON:0002529", + "HP:0000301", + "UPHENO:0080126", + "UBERON:0000075", + "UPHENO:0088186", + "HP:0009815", + "HP:0001155", + "UPHENO:0084761", + "HP:0040068", + "HP:0031704", + "HP:0040070", + "GO:0006325", + "HP:0011927", + "UPHENO:0085118", + "UPHENO:0012274", + "GO:0048519", + "HP:0011314", + "HP:0001172", + "HP:0002817", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0004120", + "UBERON:0010543", + "UPHENO:0086700", + "UBERON:0012357", + "UPHENO:0079876", + "HP:0001903", + "UBERON:0034925", + "UBERON:0004708", + "UPHENO:0002240", + "UPHENO:0052178", + "UBERON:0011582", + "CL:0000225", + "UBERON:0010912", + "HP:0004322", + "UBERON:0015061", + "UBERON:0005897", + "UBERON:0004375", + "UPHENO:0001003", + "UBERON:0006717", + "UBERON:0002495", + "HP:0005528", + "GO:0003008", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0081424", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0000541", + "UBERON:0010741", + "UBERON:0018254", + "UPHENO:0086956", + "HP:0031910", + "UBERON:5101463", + "UBERON:0004381", + "UBERON:0008962", + "BFO:0000003", + "HP:0009942", + "HP:0005918", + "UBERON:0010688", + "UBERON:0004461", + "UBERON:0015021", + "UBERON:5106048", + "UBERON:0011676", + "HP:0009997", + "UBERON:0015023", + "UBERON:0011216", + "UBERON:0012150", + "UPHENO:0085189", + "UBERON:5102544", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", + "cranial or facial muscle", + "cranial muscle", + "gustatory system", + "Abnormality of facial soft tissue", + "facial muscle", + "subdivision of head", + "abnormal facial nerve", + "Abnormal cranial nerve physiology", + "nerve", + "multi cell part structure", + "Abnormality of the nervous system", + "decreased muscle organ strength", + "Cranial nerve paralysis", + "Abnormality of the seventh cranial nerve", + "Abnormal cranial nerve morphology", + "musculature of body", + "nervous system", "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", - "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", - "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", - "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", + "abnormal nervous system", + "paralysed cranial nerve", + "skeletal muscle organ, vertebrate", "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", - "decreased length of manual digit", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", + "neuron projection bundle", + "skeletal musculature", + "abnormal peripheral nervous system morphology", + "abnormal craniocervical region morphology", + "cranial neuron projection bundle", + "abnormal nerve", + "abnormal muscle organ morphology", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "Muscle weakness", + "nerve of head region", + "decreased anatomical entity strength", + "abnormal head morphology", + "abnormal peripheral nervous system", + "body proper", + "decreased sensory perception of sound", + "Hearing abnormality", + "main body axis", + "subdivision of organism along main body axis", + "sensory perception of mechanical stimulus", + "Abnormality of head or neck", + "nervous system process", + "abnormality of ear physiology", + "Abnormality of the ear", + "musculature", + "Hearing impairment", + "ear", + "sensory perception", + "abnormality of anatomical entity physiology", + "Abnormality of the head", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory system", + "changed biological_process rate", + "delayed growth", + "Abnormality of the face", + "decreased height of the anatomical entity", + "system process", + "abnormality of multicellular organism height", + "Growth delay", + "decreased size of the multicellular organism", + "delayed biological_process", + "growth", "decreased height of the multicellular organism", - "abnormal limb morphology", + "Abnormality of body height", + "Chromosomal breakage induced by crosslinking agents", + "regulation of macromolecule biosynthetic process", + "negative regulation of biosynthetic process", + "DNA metabolic process", + "protein-DNA complex organization", + "Abnormality of chromosome stability", + "Abnormality of the peripheral nervous system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "abnormal facial muscle", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "cellular component organization", + "regulation of biological process", + "abnormality of nervous system physiology", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "biological_process", + "abnormal biological_process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "programmed DNA elimination", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of macromolecule metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "face", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "metabolic process", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormal erythrocyte morphology", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", + "anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal nervous system morphology", + "sense organ", + "abnormal limb bone", + "craniocervical muscle", + "Abnormality of multiple cell lineages in the bone marrow", + "limb bone", + "Abnormality of the musculature", + "abnormal digit", + "digitopodium region", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "abnormal arm", + "skeleton", + "manual digit bone", + "oxygen accumulating cell", "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", - "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", + "Abnormal leukocyte count", + "Abnormal nervous system physiology", + "abnormal hematopoietic system morphology", + "cellular process", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet", + "Duplication of bones involving the upper extremities", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal skeletal system", + "abnormal phalanx of manus morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "forelimb endochondral element", + "multicellular anatomical structure", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "serotonin secreting cell", + "abnormal blood cell morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormal platelet morphology", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormal finger phalanx morphology", + "abnormal bone marrow morphology", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "manus", + "abnormal limb", + "Abnormal cellular immune system morphology", + "decreased length of manual digit 1", + "Neoplasm by anatomical site", + "myeloid cell", + "abnormal nervous system morphology", + "abnormal cell morphology", + "immune system", + "abnormal cranial nerve morphology", + "cellular metabolic process", + "biogenic amine secreting cell", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", "abnormal cellular metabolic process", "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", + "musculature of face", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "bone marrow", + "acropodium region", + "Pancytopenia", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "occurrent", + "organ", + "anucleate cell", + "phenotype by ontology source", + "abnormally decreased number of hematopoietic cell", + "Abnormal thumb morphology", + "manus bone", + "manual digit plus metapodial segment", "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", + "digit", + "craniocervical region musculature", + "Abnormality of blood and blood-forming tissues", + "eukaryotic cell", "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", + "skeleton of pectoral complex", + "musculoskeletal system", + "non-connected functional system", + "phenotype", + "Abnormal cell morphology", + "limb endochondral element", + "mesoderm-derived structure", + "facial nerve", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", + "paired limb/fin segment", + "entire sense organ system", + "continuant", + "tissue", + "abnormal hematopoietic cell morphology", + "regulation of biosynthetic process", + "acropodial skeleton", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal hematopoietic system", + "manual digit 1 plus metapodial segment", + "disconnected anatomical group", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "abnormally decreased number of platelet", + "phalanx", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "anatomical structure", + "anatomical system", + "abnormal phenotype by ontology source", + "muscle structure", + "material anatomical entity", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal platelet morphology", + "nucleate cell", + "Abnormal finger morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", - "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", + "Abnormal leukocyte morphology", + "abnormal anatomical entity", + "abnormal immune system", + "skeletal system", + "motile cell", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormality of facial musculature", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "segment of autopod", + "Abnormal upper limb bone morphology", + "material entity", + "abnormal blood cell", + "erythrocyte", + "organ system subdivision", + "manual digit 1 phalanx", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "manual digit 1 digitopodial skeleton", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "craniocervical region", + "abnormal long bone morphology", + "Anemia", + "abnormal bone marrow cell", + "Acute leukemia", + "manual digit 1 or 5", + "Neoplasm", + "abnormally decreased number of cell", + "muscle organ", "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "quality", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal size of multicellular organism", + "bone element", + "platelet", + "vestibulo-auditory system", + "hematopoietic cell", + "skeletal element", + "Bone marrow hypocellularity", + "hemolymphoid system", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "hematopoietic system", + "multicellular organism", + "autopod bone", + "Abnormal appendicular skeleton morphology", + "Abnormality of limbs", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "endochondral bone", + "subdivision of skeleton", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal limb morphology", + "Abnormality of thumb phalanx", + "All", + "anatomical collection", + "paired limb/fin", + "skeletal musculature of head", + "organism subdivision", + "aplasia or hypoplasia of anatomical entity", "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", - "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal ear", + "abnormal autopod region morphology", + "bone of free limb or fin", + "abnormal manual digit morphology in the independent continuant", + "Abnormal hand morphology", + "Hematological neoplasm", + "Abnormality of the hand", + "decreased biological_process", + "Short stature", + "Aplasia/hypoplasia of the extremities", + "appendicular skeletal system", + "Facial palsy", + "manual digit", + "paralysed anatomical entity", + "phalanx endochondral element", + "Abnormal ear physiology", + "sensory perception of sound", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "arm", + "lateral structure", + "Acute myeloid leukemia", + "Short digit", + "bone of pectoral complex", + "Leukemia", + "entity", + "subdivision of skeletal system", + "limb skeleton subdivision", + "upper limb segment", + "appendicular skeleton", + "forelimb skeleton", + "decreased qualitatively sensory perception of sound", + "limb", + "cell", + "Abnormality of the upper limb", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal DNA metabolic process", + "blood cell", + "abnormal manual digit morphology in the manus", + "head", + "Abnormality of limb bone", + "cranial nerve", + "abnormal phalanx morphology", + "pectoral complex", + "digit 1 digitopodial skeleton", + "abnormal face", + "autopodial extension", + "digit 1 plus metapodial segment", + "endochondral element", + "abnormality of muscle organ physiology", + "multi-limb segment region", + "manual digit phalanx endochondral element", + "appendage", + "digit plus metapodial segment", + "decreased length of manual digit", "Short finger", - "thenar eminence hypoplasia", + "skeleton of manus", + "abnormal sensory perception", + "abnormal manus", + "aplasia or hypoplasia of manual digit 1", + "bone marrow cell", + "system", "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", - "Short stature", - "decreased size of the multicellular organism", - "abnormal growth", - "abnormal cardiovascular system", - "delayed growth", + "abnormal manual digit 1 morphology", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "paired limb/fin skeleton", + "autopodial skeleton", + "skeleton of digitopodium", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "abnormal manus morphology", + "pectoral appendage skeleton", + "Abnormal long bone morphology", + "Duplication of hand bones", + "primary metabolic process", + "skeleton of manual digitopodium", + "axial musculature", + "manual digit digitopodial skeleton", + "forelimb bone", + "peripheral nervous system", + "obsolete cell", + "limb long bone", + "Duplication of phalanx of hand", + "individual digit of digitopodial skeleton", + "abnormal head", + "skeleton of manual acropodium", + "pectoral appendage", + "autopod endochondral element", + "forelimb long bone", + "digitopodium bone", + "phalanx of manus", + "manual digit 1 phalanx endochondral element", ], - "has_phenotype_count": 15, + "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0013565", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group G", + "name": "Fanconi anemia complementation group U", "full_name": None, "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCG gene.", - "xref": ["DOID:0111086", "EFO:0009046", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", + "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], "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", + "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", "has_phenotype": [ - "HP:0001875", + "HP:0040012", + "HP:0000086", + "HP:0002984", + "HP:0009777", + "HP:0011835", "HP:0000252", - "HP:0002863", "HP:0001510", - "HP:0001873", - "HP:0007565", - "HP:0000568", - "HP:0001172", - "HP:0001903", - "HP:0003220", - "HP:0001909", + "HP:0003974", + "HP:0001643", + "HP:0012799", + "HP:0010035", ], "has_phenotype_label": [ - "Neutropenia", + "Chromosome breakage", + "Ectopic kidney", + "Hypoplasia of the radius", + "Absent thumb", + "Absent scaphoid", "Microcephaly", - "Myelodysplasia", "Growth delay", - "Thrombocytopenia", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal thumb morphology", - "Anemia", - "Abnormality of chromosome stability", - "Leukemia", + "Absent radius", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal", ], "has_phenotype_closure": [ - "HP:0011017", - "HP:0003220", - "HP:0012130", - "UPHENO:0088162", - "HP:0001909", - "HP:0001877", - "HP:0001903", - "UPHENO:0086700", - "UPHENO:0002708", - "UPHENO:0076727", - "HP:0001155", - "UPHENO:0084766", - "HP:0001167", - "UPHENO:0086633", - "HP:0005922", - "UPHENO:0076740", - "UPHENO:0086635", - "UPHENO:0084448", - "UPHENO:0076723", - "UPHENO:0076724", - "HP:0040068", - "HP:0001172", + "UBERON:0015043", + "UBERON:0002374", + "UBERON:0003221", + "UBERON:0003821", + "UBERON:0012357", + "UBERON:0010546", + "HP:0009658", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5106048", + "UBERON:0010688", + "HP:0005918", + "HP:0009767", + "UPHENO:0084458", + "UPHENO:0025593", + "UPHENO:0076755", + "UPHENO:0009400", + "HP:0010048", + "UBERON:5101463", + "UPHENO:0021840", + "HP:0005916", + "HP:0009834", + "UPHENO:0080164", + "UBERON:0002234", + "UBERON:0004302", + "UBERON:0009877", + "UBERON:0002544", + "UBERON:0005451", + "UPHENO:0081466", + "UBERON:0000467", + "UBERON:0001423", + "HP:0011603", + "UBERON:0003460", + "UPHENO:0001002", + "UBERON:0015061", + "UBERON:0003129", + "UBERON:0011582", + "UBERON:0004708", + "UBERON:0004572", + "UBERON:0012139", "UPHENO:0012541", - "UPHENO:0087924", - "HP:0100887", - "UPHENO:0075997", - "HP:0000315", - "HP:0012372", - "UPHENO:0068971", - "HP:0000271", - "UPHENO:0080209", - "UPHENO:0075219", - "UPHENO:0079876", - "UPHENO:0069523", - "UPHENO:0002905", - "HP:0012733", - "HP:0000953", - "UPHENO:0076739", - "UPHENO:0002635", - "UPHENO:0080221", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0060026", - "UPHENO:0088170", - "UPHENO:0059829", - "HP:0011355", - "UPHENO:0054970", - "UPHENO:0080377", - "HP:0001574", + "UBERON:0012150", + "GO:0090304", + "UBERON:0014395", + "UPHENO:0046540", + "UBERON:0000477", + "UPHENO:0080114", + "HP:0001167", "HP:0040064", - "UPHENO:0080662", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0008056", - "BFO:0000002", - "UPHENO:0085076", - "HP:0007565", - "UPHENO:0085984", - "UPHENO:0085371", - "HP:0025354", - "HP:0032251", - "UPHENO:0004459", - "HP:0020047", - "HP:0011893", - "UPHENO:0085330", - "UPHENO:0022529", - "UPHENO:0075220", - "BFO:0000001", - "UPHENO:0035025", - "UPHENO:0088321", - "HP:0001507", - "UPHENO:0085068", - "HP:0001939", - "UPHENO:0088335", - "UPHENO:0074575", - "HP:0000929", - "UPHENO:0002880", - "HP:0032309", - "HP:0002813", + "HP:0009810", + "UBERON:0003606", + "HP:0033127", + "UBERON:0001630", + "UPHENO:0081313", + "HP:0011842", + "UPHENO:0075696", + "HP:0006502", + "HP:0010035", + "UBERON:0000075", + "UPHENO:0069294", + "UPHENO:0080126", + "HP:0011844", + "GO:0009892", + "UPHENO:0087369", + "UBERON:0001033", + "UBERON:0004461", + "UBERON:0007272", + "UPHENO:0009338", + "UBERON:0004537", + "UPHENO:0076765", + "HP:0009822", + "UPHENO:0076727", + "UPHENO:0012274", + "UBERON:0002113", + "UBERON:0003645", + "HP:0011314", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "HP:0031910", + "UBERON:0001460", + "GO:0040007", + "UBERON:0015063", + "HP:0009826", + "UBERON:0010708", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0020584", - "UPHENO:0076799", - "UPHENO:0006910", + "UBERON:0007798", + "UBERON:0002091", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0002201", + "HP:0006824", + "UBERON:0010712", + "UBERON:0019231", + "UPHENO:0002844", + "HP:0006503", + "UPHENO:0086956", + "UBERON:0018254", + "RO:0002577", + "UBERON:0000073", + "UPHENO:0076724", + "UPHENO:0081451", + "UBERON:0003466", + "UPHENO:0026183", + "HP:0040070", + "UBERON:0008785", + "GO:0010558", + "GO:0048519", + "UBERON:0006058", + "UBERON:0010363", + "GO:0044237", + "HP:0010009", + "HP:0002977", + "UBERON:0001647", + "HP:0009824", + "UBERON:0010538", + "UBERON:0000061", + "GO:1901360", + "UPHENO:0026001", + "HP:0100547", + "UBERON:0005985", + "UPHENO:0075195", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0076703", + "HP:0003974", + "UPHENO:0081204", + "UBERON:0002102", + "UBERON:0004710", + "UPHENO:0084448", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0009341", + "UPHENO:0079872", + "UPHENO:0081091", + "UPHENO:0076710", + "HP:0009601", + "UBERON:0003607", + "HP:0100542", + "UBERON:0000916", + "UBERON:0011249", + "UPHENO:0026028", + "UBERON:0002529", + "UBERON:0004905", + "UBERON:0001008", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0050021", + "UBERON:0034925", + "UPHENO:0050121", + "HP:0002984", + "GO:0031327", + "HP:0009821", + "UBERON:0010912", + "HP:0040072", + "GO:0010556", + "PR:000050567", + "HP:0009815", + "UPHENO:0033572", + "BFO:0000002", + "HP:0005914", "HP:0012639", - "UPHENO:0002910", - "UPHENO:0086045", - "UPHENO:0086016", - "UPHENO:0086049", - "UPHENO:0049874", - "UPHENO:0085356", - "UPHENO:0076702", - "UPHENO:0085302", - "UPHENO:0085344", - "HP:0001881", + "UPHENO:0049700", + "UBERON:0010544", + "HP:0005927", + "GO:0009890", + "UPHENO:0031839", + "GO:0006259", + "UBERON:0001474", + "UBERON:0001981", + "UPHENO:0082875", + "GO:0006139", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0049990", + "GO:0006807", + "UPHENO:0006910", + "UPHENO:0049873", + "UBERON:0000153", + "UBERON:0009880", + "UPHENO:0002678", + "UPHENO:0025701", + "UBERON:5006048", + "GO:0005623", + "UBERON:0000955", + "UBERON:0010703", + "GO:0009987", + "GO:0071824", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0009659", + "UBERON:5002389", + "UPHENO:0087496", + "BFO:0000003", + "UBERON:0012358", + "CL:0000000", + "HP:0002818", + "HP:0002813", + "GO:0071840", + "UBERON:0004770", + "UBERON:0001015", + "UBERON:0000465", + "UBERON:0008229", + "UBERON:0010959", + "GO:0031052", + "GO:0031323", + "UBERON:0002513", + "UBERON:0011138", + "GO:0031324", + "UBERON:0002100", + "UPHENO:0002320", + "GO:0065007", "HP:0002817", + "UPHENO:0001001", + "GO:0044238", + "GO:0010629", + "HP:0001626", + "GO:0071704", + "GO:0009889", + "UBERON:0017750", + "HP:0030680", + "GO:0006325", + "UBERON:0003103", + "HP:0000077", + "UPHENO:0002905", + "HP:0003026", + "UBERON:0005172", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "GO:0046483", + "UPHENO:0084766", + "BFO:0000004", + "UBERON:0001434", + "HP:0006496", + "GO:0031326", + "UPHENO:0084763", + "UPHENO:0087309", + "UBERON:0004122", + "UPHENO:0080083", + "HP:0010935", + "HP:0000301", + "UBERON:0010741", + "UBERON:0002101", + "HP:0000152", + "UBERON:0013701", + "GO:0050789", + "HP:0000079", + "UPHENO:0026128", + "GO:0048523", + "UBERON:0004120", + "UPHENO:0076779", + "UBERON:5001463", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0001005", + "HP:0040195", + "HP:0000086", + "UBERON:0034713", "HP:0000707", - "UPHENO:0088176", - "UPHENO:0002948", - "HP:0011793", - "UPHENO:0000541", - "UPHENO:0086005", - "UPHENO:0084763", + "UPHENO:0049748", + "UBERON:0002075", + "GO:0031049", + "UPHENO:0050113", + "GO:0060255", + "UPHENO:0076740", + "GO:0008150", + "UPHENO:0020888", + "UPHENO:0049367", + "UPHENO:0050116", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010314", + "HP:0000929", + "GO:0034641", + "GO:0008152", + "UPHENO:0087501", + "GO:0006725", + "UBERON:0001893", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0076767", + "UBERON:0011250", + "UBERON:0013700", + "GO:0019222", + "HP:0025354", + "GO:0050794", + "HP:0003220", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0045060", + "UBERON:0012151", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0002470", + "UPHENO:0081790", + "UBERON:0001577", + "UBERON:0011143", + "UPHENO:0053580", + "UPHENO:0002816", + "UBERON:0005173", + "UPHENO:0087427", + "UPHENO:0002332", + "UBERON:0010758", + "UBERON:8450002", + "UBERON:0000062", + "UBERON:0004765", + "UPHENO:0053588", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002417", + "UPHENO:0026144", + "UBERON:0005090", + "UBERON:0005178", + "UBERON:0001444", + "UPHENO:0018390", + "UPHENO:0068971", + "UPHENO:0008668", + "UPHENO:0079876", + "GO:0043170", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0001627", + "UPHENO:0002880", + "UBERON:0012475", + "BFO:0000001", + "HP:0010628", + "UBERON:0010000", + "UBERON:0004716", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UBERON:0002204", + "UBERON:0002090", + "HP:0030319", + "UPHENO:0026506", + "HP:0009602", + "HP:0011804", + "HP:0009380", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0076723", + "NCBITaxon:131567", + "HP:0040068", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0008523", "UPHENO:0087518", - "HP:0100547", - "HP:0000118", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0085042", - "UPHENO:0004523", - "HP:0002715", - "HP:0011297", - "UPHENO:0087472", - "UPHENO:0085118", - "HP:0010974", - "HP:0012443", - "PATO:0000001", - "UPHENO:0087006", - "UPHENO:0077426", - "HP:0001875", - "HP:0011844", - "UPHENO:0086172", - "UPHENO:0001005", - "HP:0007400", - "HP:0000001", - "UPHENO:0086019", + "OBI:0100026", + "UBERON:0001062", + "UBERON:0005881", + "UBERON:0015021", + "UBERON:0003509", + "UBERON:0004573", + "UBERON:0004381", "UPHENO:0011498", - "HP:0009121", - "UPHENO:0085354", - "UPHENO:0088166", - "UPHENO:0076703", - "UPHENO:0001003", - "UPHENO:0054957", - "UPHENO:0015280", - "UPHENO:0086176", - "HP:0000478", - "UPHENO:0063722", - "HP:0001872", - "UPHENO:0074589", - "HP:0011991", - "BFO:0000020", - "HP:0002664", - "UPHENO:0002536", - "HP:0040195", - "UPHENO:0075195", - "UPHENO:0086173", - "HP:0001000", - "UPHENO:0001001", + "UBERON:0004249", + "UBERON:0019221", + "UPHENO:0046538", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0013581", + "NCBITaxon:2759", + "HP:0005922", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0084761", + "UPHENO:0081455", + "HP:0011297", + "UPHENO:0046505", + "UBERON:0013768", + "HP:0009777", + "HP:0011805", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0086700", + "UBERON:0005944", + "UBERON:0004452", + "HP:0001191", + "UBERON:0001427", + "UPHENO:0016527", + "HP:0001367", + "UBERON:0006716", + "UBERON:5102389", + "UPHENO:0075655", + "UBERON:0001480", + "UPHENO:0026023", + "HP:0009823", + "HP:0004243", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0015078", + "UPHENO:0081524", + "UPHENO:0080173", + "UBERON:0000982", + "UPHENO:0002696", + "HP:0004231", + "HP:0003019", + "UPHENO:0020041", + "HP:0000271", + "HP:0010827", + "UPHENO:0002973", + "HP:0009825", + "UPHENO:0009382", + "UPHENO:0002961", + "HP:0030962", + "HP:0011835", + "UBERON:0000948", + "UPHENO:0015324", + "UBERON:0034921", + "GO:0010605", + "UBERON:0005897", + "UBERON:0015049", + "UBERON:0003656", + "UPHENO:0086589", "UPHENO:0076791", - "HP:0007364", - "HP:0002977", - "UPHENO:0087907", - "HP:0001911", - "UPHENO:0002764", - "HP:0001874", - "UPHENO:0076805", - "HP:0033127", - "UPHENO:0087123", + "UBERON:0007811", "UPHENO:0087089", - "HP:0011842", - "HP:0000240", - "UPHENO:0002896", - "HP:0000951", - "UPHENO:0086589", - "UPHENO:0049587", - "UPHENO:0084987", - "HP:0002011", - "UPHENO:0088338", - "HP:0000234", - "UPHENO:0020888", - "HP:0002060", - "HP:0000568", - "HP:0000152", - "HP:0001871", - "UPHENO:0075696", - "UPHENO:0074584", - "HP:0010987", + "HP:0009121", "HP:0000924", - "UPHENO:0081435", + "UBERON:0004121", + "UBERON:0000033", + "HP:0002060", + "UPHENO:0080160", + "HP:0009115", + "UPHENO:0004523", "UPHENO:0080079", - "HP:0001873", - "HP:0000252", - "UPHENO:0003020", + "HP:0007364", + "UPHENO:0081521", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0076722", + "UBERON:0001017", + "UPHENO:0026181", "UPHENO:0002964", - "UPHENO:0001002", - "UPHENO:0002844", - "HP:0025461", - "UPHENO:0085189", + "HP:0012443", + "UBERON:0002616", + "UBERON:0002049", + "UBERON:0001016", + "UBERON:5102544", + "UBERON:0004111", + "UBERON:0011137", + "UPHENO:0075220", + "UBERON:0001890", + "UBERON:0015042", "UPHENO:0080200", - "UPHENO:0084761", - "UPHENO:0021474", - "HP:0011121", + "UPHENO:0076772", + "UPHENO:0002764", + "UPHENO:0076805", + "HP:0000234", + "UPHENO:0087018", + "NCBITaxon:33154", + "HP:0000252", + "HP:0011799", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0004508", "UPHENO:0081566", - "HP:0002863", + "NCBITaxon:1", + "UBERON:0000481", + "UBERON:0010543", + "HP:0001507", + "UBERON:0001436", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0001456", + "UPHENO:0049874", + "HP:0002597", + "PATO:0000001", + "HP:0000759", "UPHENO:0000543", - "HP:0004377", "HP:0001510", - "HP:0011873", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0050008", - "UPHENO:0085405", - "HP:0011875", - "HP:0000957", - "HP:0001034", - "UPHENO:0074572", + "UBERON:0004473", + "HP:0003953", + "UPHENO:0009399", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0001637", + "UPHENO:0015280", + "UPHENO:0075902", + "GO:0016043", + "UPHENO:0080168", + "HP:0000118", + "UBERON:0003834", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000055", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UBERON:0002386", + "UBERON:0001435", + "UBERON:0005440", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0011779", + "UBERON:0004145", + "UPHENO:0076729", + "UPHENO:0081435", + "UPHENO:0087186", + "UPHENO:0080362", + "HP:0025015", + "HP:0033353", + "UBERON:0001009", + "UBERON:0012140", + "UBERON:0004571", + "HP:0001643", + "NCBITaxon:6072", + "UPHENO:0076776", + "UPHENO:0086797", + "UBERON:0012141", + "UBERON:0003513", + "UBERON:0011695", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0003498", + "UBERON:0006876", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "UBERON:0018674", + "UBERON:0013630", + "UBERON:0034923", + "HP:0010242", + "UBERON:0007100", + "UPHENO:0002908", + "UPHENO:0003587", + "UBERON:0000383", + "UPHENO:0021800", + "UBERON:0001785", + "UBERON:0014892", + "UPHENO:0080555", + "HP:0045010", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0002471", + "UPHENO:0081755", + "UPHENO:0078730", + "UPHENO:0081709", + "UBERON:0000122", + "HP:0001324", + "HP:0410008", + "UPHENO:0002433", + "UPHENO:0088186", + "UBERON:0009878", + "UBERON:0005162", + "UBERON:0001021", + "UPHENO:0002910", + "UPHENO:0080556", + "UBERON:0015789", + "HP:0003011", + "UBERON:0011216", + "UPHENO:0079870", + "HP:0001291", + "HP:0012799", + "HP:0012638", + "UBERON:0004453", + "UBERON:0002376", + "UBERON:0000010", + "UPHENO:0026055", + "UPHENO:0081515", + "HP:0009851", + "HP:0010026", + "UPHENO:0080191", + "HP:0009802", ], "has_phenotype_closure_label": [ - "Abnormality of metabolism/homeostasis", - "Abnormal cellular physiology", - "Abnormal erythrocyte morphology", - "abnormal manual digit 1 morphology", + "manual digit 1 phalanx endochondral element", + "manual digit 1 metacarpus endochondral element", + "metapodial skeleton", + "skeleton of digitopodium", + "abnormal phalanx of manus morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "Abnormality of thumb phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Abnormal proximal phalanx morphology of the hand", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of proximal phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "metapodium bone", + "digitopodium bone", + "skeleton of manual acropodium", + "metacarpal bone of digit 1", + "proximal phalanx of manus", + "abnormal manual digit morphology in the independent continuant", + "organism", + "Finger aplasia", + "cardiovascular system", + "abnormal manus morphology", + "pectoral appendage skeleton", + "segment of manus", + "protein-containing material entity", + "Aplasia/hypoplasia involving bones of the extremities", + "skeleton of limb", + "Aplasia involving forearm bones", + "paired limb/fin skeleton", + "system", + "decreased size of the anatomical entity in the independent continuant", + "limb long bone", + "zeugopodial skeleton", + "peripheral nervous system", "abnormal limb bone morphology", - "abnormal digit", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal limb", - "abnormal arm", - "Abnormality of the hand", - "Abnormality of limb bone", - "Abnormal digit morphology", - "Abnormal finger morphology", - "Abnormal appendicular skeleton morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "Abnormal hand morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal manual digit morphology in the manus", - "Abnormality of chromosome stability", - "abnormal manus", - "abnormal forelimb morphology", - "Abnormality of the face", - "Microphthalmia", + "multi-limb segment region", + "endochondral element", + "paired limb/fin segment", + "bone element", + "pectoral complex", + "trunk region element", + "head", + "Aplasia involving bones of the upper limbs", + "arm bone", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "Abnormal skeletal morphology", + "forelimb endochondral element", + "primary metabolic process", + "skeletal system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "forelimb zeugopod bone hypoplasia", + "endochondral bone", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "abnormal upper urinary tract", + "Limb undergrowth", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "craniocervical region", + "forelimb bone", + "anatomical entity hypoplasia", + "Aplasia/hypoplasia of the extremities", + "decreased size of the radius bone", + "Abnormal cellular phenotype", "abnormal autopod region morphology", - "abnormal camera-type eye morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal eye morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the orbital region", - "aplasia or hypoplasia of eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "abnormal face morphology", - "increased biological_process", - "abnormal pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased biological_process in independent continuant", - "Hypermelanotic macule", - "abnormally decreased number of anatomical entity in the independent continuant", - "Neutropenia", - "abnormal head", - "Abnormality of the upper limb", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "abnormal erythrocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of the immune system", - "Abnormal leukocyte count", - "abnormal granulocyte morphology", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of myeloid cell", - "abnormal central nervous system morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the integument", - "aplasia or hypoplasia of anatomical entity", - "abnormal immune system", "abnormal anatomical entity", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "Abnormal cerebral morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of skull size", - "Abnormality of neutrophils", - "abnormally decreased number of cell in the independent continuant", - "phenotype", - "quality", - "decreased size of the eyeball of camera-type eye", - "Neoplasm by anatomical site", - "Abnormality of skin pigmentation", - "abnormal craniocervical region", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Growth abnormality", - "increased pigmentation in skin of body", - "Leukemia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal head morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "abnormal skin of body morphology", - "increased qualitatively biological_process", - "Abnormality of the skin", - "abnormal neutrophil", - "abnormal orbital region", - "Abnormal cell morphology", - "abnormal myeloid leukocyte morphology", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "specifically dependent continuant", - "abnormal immune system morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "abnormal digit morphology", - "Thrombocytopenia", - "Abnormal forebrain morphology", - "Anemia", - "Abnormality of the head", + "skeleton", + "paired limb/fin", + "anatomical collection", + "All", + "Aplasia involving bones of the extremities", + "absent manual digit", "abnormal phenotype by ontology source", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Abnormality of limb bone morphology", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "Abnormality of limbs", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood vessel", + "outflow tract", + "obsolete cellular aromatic compound metabolic process", + "abnormal facial muscle", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormal appendicular skeleton morphology", + "subdivision of organism along appendicular axis", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "facial nerve", + "limb", + "cell", + "Abnormality of the upper limb", + "radius endochondral element", + "manus", + "Upper limb undergrowth", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "abnormal size of anatomical entity", + "regulation of cellular process", + "digitopodium region", + "abnormal skeletal joint morphology in the pectoral complex", + "nucleobase-containing compound metabolic process", + "absent digit", + "Abnormal morphology of the radius", + "abdomen element", + "obsolete nitrogen compound metabolic process", + "thoracic segment blood vessel", + "excretory system", + "circulatory system", + "zeugopod", + "skeletal element", + "renal system", + "Abnormal localization of kidney", + "biological_process", + "subdivision of skeletal system", + "entity", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "absent anatomical entity in the metacarpus region", + "Abnormal joint morphology", + "body proper", + "abnormal peripheral nervous system", + "abnormal primary metabolic process", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "appendicular skeletal system", + "radiale", + "material anatomical entity", + "muscle structure", + "chromatin organization", + "abnormal metabolic process", + "thoracic segment organ", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "appendicular skeleton", + "upper limb segment", + "organ", + "abnormality of nervous system physiology", + "abnormal digit", + "cellular organisms", + "thoracic segment of trunk", + "Abnormality of the musculature", + "short bone", + "abnormal organelle organization", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "protein-containing complex organization", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "independent continuant", "abnormal growth", - "Abnormal cellular phenotype", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Decreased head circumference", - "delayed growth", - "Abnormality of globe size", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal limb bone", + "abnormal cellular process", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormality of facial musculature", + "articulation", + "regional part of nervous system", + "abnormally localised anatomical entity", + "nucleic acid metabolic process", + "process", + "Congenital malformation of the great arteries", + "bone element hypoplasia in independent continuant", + "Unilateral facial palsy", + "abnormal forelimb zeugopod morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "cellular metabolic process", + "abnormal cranial nerve morphology", + "forelimb zeugopod", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "continuant", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "acropodial skeleton", + "Abnormal muscle physiology", + "Phenotypic abnormality", + "regulation of macromolecule metabolic process", + "abnormal cellular component organization", + "compound organ", + "Abnormality of the peripheral nervous system", + "mesoderm-derived structure", + "autopod bone", + "thoracic cavity element", "abnormal number of anatomical enitites of type anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal leukocyte morphology", - "abnormally decreased number of cell", - "abnormal cell", + "limb bone", + "Aplasia of the proximal phalanges of the hand", + "abnormal limb bone", "Abnormal nervous system morphology", - "Cafe-au-lait spot", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic system", - "entity", - "Abnormality of blood and blood-forming tissues", - "abnormal cell morphology", - "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "abnormal anatomical entity topology in independent continuant", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "regulation of gene expression", + "quality", + "forelimb zeugopod skeleton", + "proximal mesopodial bone", + "regulation of cellular biosynthetic process", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal kidney morphology", + "abnormal carpal bone morphology", + "musculature of face", + "cellular component organization", + "manual digit 1 or 5", + "negative regulation of metabolic process", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the appendage girdle complex", + "regulation of biosynthetic process", + "forelimb skeleton", + "genitourinary system", + "abnormal limb", + "negative regulation of cellular process", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Abnormality of cardiovascular system morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "carpal region", + "limb skeleton subdivision", + "skull", + "biological regulation", + "abdominal segment of trunk", + "abnormally localised kidney", + "phenotype by ontology source", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "arm", + "protein-DNA complex organization", + "abnormal systemic artery morphology", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "decreased length of forelimb zeugopod bone", + "phalanx of manus", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "Abnormality of the kidney", + "paralysed anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "aplastic manual digit 1 phalanx", + "muscle organ", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "macromolecule metabolic process", + "vascular system", + "Ectopic kidney", + "abnormal proximal phalanx of manus morphology", + "cavitated compound organ", + "abnormal brain morphology", + "acropodium region", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of the wrist", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "vasculature", + "abnormal renal system", + "negative regulation of cellular biosynthetic process", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "regulation of biological process", + "arterial blood vessel", + "anatomical entity hypoplasia in independent continuant", + "skeletal musculature of head", + "anatomical system", + "appendage", + "root", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "abnormally localised anatomical entity in independent continuant", + "organ system subdivision", + "abnormal renal system morphology", + "aplastic carpal bone", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "appendage girdle complex", + "subdivision of head", + "trunk", + "skeletal musculature", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "anterior region of body", + "aplastic anatomical entity", + "subdivision of organism along main body axis", + "abnormal appendicular skeleton morphology", + "abnormality of cranial nerve physiology", + "limb endochondral element", + "Short forearm", + "delayed biological_process", + "Aplasia/Hypoplasia of the thumb", + "aplastic manual digit 1", + "manual digit", + "phalanx", + "vasculature of organ", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "abdomen", + "manual digit 1 plus metapodial segment", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "subdivision of trunk", + "Abnormal thumb morphology", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "Aplasia of metacarpal bones", "abnormal face", - "abnormally decreased number of hematopoietic cell", - "abnormal myeloid cell morphology", - "changed biological_process rate", + "Facial palsy", + "digit", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "digit plus metapodial segment", + "aplastic metacarpal bone of digit 1", + "abnormal manus", + "aplasia or hypoplasia of manual digit 1", + "absent metacarpal bone", + "absent anatomical entity", + "carpal skeleton", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "absent metacarpal bone in the independent continuant", + "autopodial skeleton", + "skeleton of manus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of upper limb joint", + "negative regulation of biological process", + "articular system", + "multi organ part structure", + "abnormal carpal region", + "Patent ductus arteriosus", + "aplasia or hypoplasia of carpal bone", + "Decreased head circumference", + "absent carpal bone in the independent continuant", + "Abnormality of the scaphoid", + "Carpal bone aplasia", + "absent radiale", + "systemic arterial system", + "absent radius bone in the independent continuant", + "proximal carpal bone", + "metacarpal bone", + "occurrent", + "absent carpal bone in the limb", + "Aplasia/Hypoplasia involving the carpal bones", + "skeletal joint", + "Absent scaphoid", + "digit 1", + "abnormal carpal bone", + "Abnormality of metabolism/homeostasis", + "abnormal skeletal joint morphology", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "abnormal radiale", + "carpus endochondral element", + "Absent thumb", + "proximal mesopodial endochondral element", + "Abnormal carpal morphology", + "mesopodial skeleton", + "abnormal telencephalon morphology", + "bone of free limb or fin", + "mesopodium bone", + "negative regulation of gene expression", + "carpal bone", + "abnormal skeletal system morphology", + "proximal carpal endochondral element", + "abnormal head morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Short long bone", + "abnormal skull morphology", + "cranial neuron projection bundle", "abnormal forebrain morphology", - "Abnormal myeloid cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal appendicular skeleton morphology", - "abnormal blood cell", - "All", - "continuant", + "forelimb", + "Abnormal forebrain morphology", + "heart", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal limb morphology", + "anatomical conduit", + "autopod region", + "abnormal skeletal joint morphology in the independent continuant", + "Aplasia/Hypoplasia of the cerebrum", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", "abnormal craniocervical region morphology", - "abnormal size of eyeball of camera-type eye", - "Abnormal cellular immune system morphology", - "abnormal axial skeleton plus cranial skeleton morphology", - "Hematological neoplasm", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of telencephalon", - "Myelodysplasia", - "decreased size of the anatomical entity in the independent continuant", - "abnormal telencephalon morphology", - "Multiple cafe-au-lait spots", - "Abnormal leukocyte morphology", - "abnormal brain morphology", "Abnormal skull morphology", - "Abnormality of the eye", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", + "abnormal metacarpal bone morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormality of skull size", + "decreased muscle organ strength", + "cranial skeletal system", "Abnormality of head or neck", - "Morphological central nervous system abnormality", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Aplasia/Hypoplasia affecting the eye", - "abnormal postcranial axial skeleton morphology", - "Neoplasm", - "abnormal number of anatomical enitites of type neutrophil", + "Aplasia/hypoplasia involving forearm bones", + "metapodium region", "abnormal nervous system", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "decreased size of the anatomical entity", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "Abnormality of the skeletal system", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "abnormal biological_process in independent continuant", - "increased biological_process in skin of body", + "abnormal musculature", + "Abnormality of limb bone", + "autopod endochondral element", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "regional part of brain", + "metacarpus skeleton", + "musculature", + "Growth abnormality", + "axial skeletal system", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "abnormal erythroid lineage cell morphology", - "abnormal skull morphology", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", - "abnormal integument", + "Abnormal hand morphology", + "Metazoa", + "heart vasculature", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "abnormal head", + "forelimb long bone", + "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", "abnormal biological_process", + "kidney", "Growth delay", - "delayed biological_process", - "Abnormality of thrombocytes", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormal platelet morphology", - "Abnormal platelet count", - "Localized skin lesion", - "abnormal platelet", - "Abnormality of skin morphology", - "Macule", - "abnormal pigmentation", - "abnormal skin of body", + "lateral structure", + "vessel", + "delayed growth", + "abnormal cardiovascular system", + "Absent radius", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "absent radius bone in the forelimb", + "arterial system", + "blood vasculature", + "abnormal incomplete closing of the anatomical entity", + "abnormal great vessel of heart morphology", + "abnormal arm", + "Abnormal vascular morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "Abnormal blood vessel morphology", + "artery", + "abnormal genitourinary system", + "abnormal vasculature", + "Abnormal forearm morphology", + "abnormal artery morphology", + "abnormality of anatomical entity physiology", + "abnormal cell", + "disconnected anatomical group", + "anatomical cluster", + "negative regulation of macromolecule biosynthetic process", + "abnormal vascular system morphology", + "Abnormal heart morphology", + "viscus", + "conceptus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "abnormal limb long bone morphology", + "heart blood vessel", + "great vessel of heart", + "trunk blood vessel", + "organism subdivision", + "embryonic cardiovascular system", + "metapodium bone 1", + "abnormal blood vessel morphology", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "abnormal cardiovascular system morphology", + "abnormal artery morphology in the independent continuant", + "abnormal incomplete closing of the ductus arteriosus", + "coronary vessel", + "musculature of body", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "aplasia or hypoplasia of metacarpal bone", + "mesopodium region", + "systemic artery", + "decreased anatomical entity strength", + "phenotype", + "nerve of head region", + "absent anatomical entity in the independent continuant", + "Muscle weakness", + "Abnormal upper limb bone morphology", + "Abnormal peripheral nervous system morphology", + "abnormal muscle organ morphology", + "abnormal nerve", + "multi-tissue structure", + "abnormal peripheral nervous system morphology", + "neuron projection bundle", + "Abnormal skeletal muscle morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "skeletal muscle organ, vertebrate", + "abnormal metacarpal bone of digit 1 morphology", + "paralysed cranial nerve", + "craniocervical region musculature", + "axial musculature", + "craniocervical muscle", + "Abnormal cranial nerve morphology", + "Abnormality of the face", + "Abnormality of the cardiovascular system", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "multi cell part structure", + "circulatory organ", + "cranial nerve", + "abnormal phalanx morphology", + "Abnormal cranial nerve physiology", + "Abnormality of the hand", + "radius bone", + "manus bone", + "abnormal facial nerve", + "facial muscle", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "Abnormal nervous system physiology", + "main body axis", + "gustatory system", + "cranial muscle", + "cranial or facial muscle", + "Hypoplasia of the radius", + "metacarpus region", + "decreased size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "aplasia or hypoplasia of phalanx of manus", + "abnormal anatomical entity morphology in the manus", + "proximal phalanx", ], "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0044325", + "id": "MONDO:0009214", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", + "name": "Fanconi anemia complementation group D2", "full_name": None, "deprecated": None, - "description": None, - "xref": ["OMIM:617784", "UMLS:C4521564"], + "description": "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.", + "xref": ["DOID:0111083", "GARD:15169", "NCIT:C125706", "OMIM:227646", "UMLS:C3160738"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], + "synonym": [ + "FA4", + "FAD2", + "FANCD2", + "Fad2", + "Fanconi Anemia, complementation group D", + "Fanconi anemia complementation group D2", + "Fanconi anemia, complementation group D2", + "Fanconi pancytopenia type 4", + "Fanconi pancytopenia, type 4", + ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ + "HP:0007018", + "HP:0000086", + "HP:0001875", + "HP:0002575", "HP:0009777", + "HP:0001734", + "HP:0001249", + "HP:0000238", + "HP:0001627", + "HP:0000369", "HP:0000252", - "HP:0002247", - "HP:0002984", - "HP:0002863", - "HP:0002119", - "HP:0001510", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049", + "HP:0009944", + "HP:0000957", + "HP:0000815", + "HP:0000075", + "HP:0000581", + "HP:0000316", + "HP:0000104", + "HP:0003974", + "HP:0000028", + "HP:0001876", + "HP:0001873", + "HP:0003221", + "HP:0001000", + "HP:0000978", + "HP:0001903", + "HP:0001909", + "HP:0001274", + "HP:0003214", + "HP:0003213", + "HP:0001017", + "HP:0009778", + "HP:0000125", + "HP:0001896", + "HP:0000601", + "HP:0000568", + "HP:0010035", + "HP:0002032", + "HP:0002079", + "HP:0000054", + "HP:0009943", + "HP:0005528", + "HP:0001643", + "HP:0000081", + "HP:0000085", + "HP:0004322", + "HP:0000365", + "HP:0000486", + "HP:0001177", + "HP:0001518", ], "has_phenotype_label": [ + "Attention deficit hyperactivity disorder", + "Ectopic kidney", + "Neutropenia", + "Tracheoesophageal fistula", "Absent thumb", + "Annular pancreas", + "Intellectual disability", + "Hydrocephalus", + "Abnormal heart morphology", + "Low-set ears", "Microcephaly", - "Duodenal atresia", - "Hypoplasia of the radius", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology", - ], - "has_phenotype_closure": [ - "HP:0000089", - "HP:0000079", - "HP:0012210", - "UPHENO:0081210", - "HP:0010935", - "HP:0000271", - "UPHENO:0081227", - "UPHENO:0081786", - "UPHENO:0087472", - "UPHENO:0002910", - "UPHENO:0087585", - "UPHENO:0088145", - "UPHENO:0084928", - "HP:0025354", - "UPHENO:0085195", - "HP:0012143", - "UPHENO:0076957", - "UPHENO:0072814", - "UPHENO:0071309", - "HP:0011282", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0086932", + "Partial duplication of thumb phalanx", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Renal duplication", + "Blepharophimosis", + "Hypertelorism", + "Renal agenesis", + "Absent radius", + "Cryptorchidism", + "Pancytopenia", + "Thrombocytopenia", + "Chromosomal breakage induced by crosslinking agents", + "Abnormality of skin pigmentation", + "Bruising susceptibility", + "Anemia", + "Leukemia", + "Agenesis of corpus callosum", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Anemic pallor", + "Short thumb", + "Pelvic kidney", + "Reticulocytopenia", + "Hypotelorism", + "Microphthalmia", + "Aplasia of the 1st metacarpal", + "Esophageal atresia", + "Hypoplasia of the corpus callosum", + "Micropenis", + "Complete duplication of thumb phalanx", + "Bone marrow hypocellularity", + "Patent ductus arteriosus", + "Duplicated collecting system", + "Horseshoe kidney", + "Short stature", + "Hearing impairment", + "Strabismus", + "Preaxial hand polydactyly", + "Small for gestational age", + ], + "has_phenotype_closure": [ + "UPHENO:0082794", + "UPHENO:0010795", + "UPHENO:0054299", + "UPHENO:0056170", + "UPHENO:0056245", + "HP:0001177", + "HP:0000486", + "NBO:0000444", + "HP:0000549", + "HP:0000496", + "NBO:0000338", + "UPHENO:0056085", + "UPHENO:0079828", + "GO:0007605", + "GO:0050954", + "UPHENO:0050625", + "UPHENO:0005518", + "UPHENO:0000543", + "UPHENO:0081424", + "UPHENO:0049874", + "UPHENO:0075159", + "UPHENO:0080351", + "GO:0040007", + "HP:0000085", + "GO:0007600", + "UPHENO:0041075", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0082444", + "HP:0000081", + "UPHENO:0075787", + "HP:0030962", + "UBERON:0018674", + "UBERON:0006876", + "UBERON:0002201", + "UBERON:0003498", + "UBERON:0011695", + "UPHENO:0086797", + "UBERON:0004145", + "UPHENO:0076729", + "UBERON:0004716", + "UPHENO:0015290", + "UPHENO:0087309", + "UBERON:0004572", + "HP:0005528", + "UBERON:0000989", + "HP:0008736", + "HP:0000036", + "UPHENO:0081381", + "HP:0002079", + "UPHENO:0081091", + "UPHENO:0063603", 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"UPHENO:0087902", + "HP:0001274", "UPHENO:0087531", - "UPHENO:0021803", - "HP:0002518", + "UBERON:0019261", + "UPHENO:0081562", + "UPHENO:0087750", + "UPHENO:0087032", + "HP:0033725", + "UBERON:0007702", + "UBERON:0002316", + "UBERON:0000454", + "HP:0001273", + "UPHENO:0076807", + "UBERON:0005340", + "UPHENO:0085805", "HP:0002500", - "UPHENO:0076953", - "UPHENO:0073937", - "UPHENO:0074037", - "HP:0002438", - "HP:0002180", - "HP:0002352", - "UPHENO:0081547", - "HP:0003117", - "UPHENO:0076779", - "UPHENO:0077872", + "HP:0004377", + "HP:0001877", + "UBERON:0000477", + "GO:0003013", + "HP:0000978", + "UPHENO:0051097", + "HP:0001933", + "HP:0001892", + "UBERON:0007798", + "HP:0002597", + "HP:0011029", + "GO:0008015", + "HP:0003220", + "GO:0019222", + "HP:0011354", + "GO:0006139", + "GO:0046483", + "GO:0010629", + "UPHENO:0080581", + "UPHENO:0050021", + "UPHENO:0050121", + "UPHENO:0056257", + "GO:0031327", + "UPHENO:0063639", + "GO:0006325", + "GO:0010556", + "GO:0009890", + "GO:0031324", + 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+ "HP:0000356", "UPHENO:0005597", - "UPHENO:0046538", - "UPHENO:0050034", - "UPHENO:0050121", - "UPHENO:0002948", - "UPHENO:0087267", - "HP:0001626", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "UPHENO:0086589", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "UPHENO:0087433", + "UBERON:0005358", + "UBERON:0019294", "UPHENO:0076791", - "UPHENO:0087940", - "UPHENO:0087339", - "UPHENO:0002819", - "HP:0002012", - "UPHENO:0014335", - "HP:0002715", - "HP:0025408", - "UPHENO:0076289", - "UPHENO:0087376", + "UPHENO:0086589", + "UPHENO:0081598", + "UBERON:0002102", + "UPHENO:0003811", + "UBERON:0000153", + "UBERON:0004086", + "HP:0009943", + "UBERON:0001359", + "UBERON:0001981", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UBERON:0000475", + "UPHENO:0076702", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0002921", + "UPHENO:0087548", + "HP:0000980", + "GO:1901360", + "UPHENO:0025211", + "UBERON:0035639", + "UBERON:0000061", + "UPHENO:0056333", + "UPHENO:0080164", + "UBERON:0006314", + "UBERON:0002544", + "UBERON:0007779", + "BFO:0000001", + "UPHENO:0002635", + "HP:0000357", + "UBERON:0000948", + "UBERON:0000072", + "UPHENO:0080362", + "UBERON:0001009", + "HP:0030680", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0015228", + "HP:0001626", + "HP:0010242", + "UPHENO:0005016", + "UBERON:0007100", + "UBERON:0000020", + "HP:0012252", + "UBERON:0007811", + "CL:0002242", + "UPHENO:0085405", + "UPHENO:0005986", + "HP:0000598", + "UBERON:0000033", + "UPHENO:0076730", + "UBERON:0002417", + "UPHENO:0074572", + "UBERON:0001819", + "UPHENO:0086699", + "UBERON:0003645", + "HP:0011314", + "UPHENO:0087907", + "HP:0000234", + "HP:0000369", + "HP:0000252", + "UBERON:0002105", + "UPHENO:0041226", + "HP:0000078", + "UPHENO:0018426", + "UPHENO:0041258", + "CL:0000764", + "UPHENO:0087089", + "UBERON:0005985", + "UPHENO:0075195", + "HP:0009121", + "UPHENO:0081521", + "UBERON:0003544", + "HP:0000812", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0002964", + "UPHENO:0026181", + "HP:0012443", + "UBERON:0001032", + "UBERON:0002616", + "HP:0000050", + "UPHENO:0054970", + "UBERON:0004111", + "UBERON:5102544", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0002090", + "UBERON:0001691", + "UPHENO:0075220", + "UBERON:0001893", + "UBERON:0001890", + "UBERON:0015042", + "UPHENO:0008622", + "HP:0200007", + "UPHENO:0080200", + "NCBITaxon:33154", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000055", + "UBERON:0000489", + "UBERON:0010323", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "UPHENO:0021803", + "UPHENO:0076776", + "NCBITaxon:6072", + "HP:0000271", "UPHENO:0020041", - "UPHENO:0049647", - "HP:0002060", - "HP:0000824", - "UPHENO:0051763", - "UPHENO:0001072", - "UPHENO:0076812", - "UPHENO:0077887", - "UPHENO:0080588", - "UPHENO:0087427", - "UPHENO:0002332", - "UPHENO:0087516", - "UPHENO:0081628", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0004618", - "UPHENO:0046284", - "UPHENO:0049927", - "UPHENO:0077873", - "UPHENO:0075995", + "UPHENO:0086391", + "GO:0071704", + "UPHENO:0082301", + "UPHENO:0021800", + "UBERON:0010741", + "CL:0000000", + "UBERON:0012358", + "UPHENO:0086956", + "UPHENO:0041561", + "UBERON:5101463", + "UPHENO:0081095", + "HP:0001873", + "UBERON:0010314", + "HP:0004275", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UPHENO:0082128", + "HP:0040070", + "UPHENO:0078729", + "UBERON:0000463", + "UBERON:0015063", + "UPHENO:0002751", + "HP:0009142", + "UBERON:0004535", + "UBERON:0002495", + "UPHENO:0005651", + "UPHENO:0076718", + "HP:0001161", + "HP:0011017", + "NCBITaxon:33208", + "UBERON:0012151", + "UPHENO:0075655", + "UBERON:5102389", + "UBERON:5106048", + "UPHENO:0021561", + "UBERON:0002405", + "UBERON:0003606", + "UBERON:0015024", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0009341", + "UPHENO:0079872", + "HP:0011276", + "GO:0010605", + "UBERON:0005897", + "UPHENO:0000541", + "GO:0010468", + "UBERON:0001436", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0001034", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "HP:0012733", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", + "HP:0008373", ], "has_phenotype_closure_label": [ - "Abnormal radial ray morphology", - "Renal hypoplasia", - "abnormal kidney morphology", - "Abnormality of the urinary system", - "Abnormality of the upper urinary tract", - "Renal hypoplasia/aplasia", - "abnormal size of kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "decreased size of the kidney", - "abnormal renal system morphology", - "Abnormality of the face", - "abnormal midface morphology", - "anatomical entity hypoplasia in face", - "abnormal face", - "abnormal bone marrow cell", - "Abnormal megakaryocyte morphology", - "Midface retrusion", - "abnormal bone marrow cell morphology", - "abnormal cell", - "abnormal megakaryocyte morphology", - "Megakaryocyte dysplasia", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "Abnormal hindbrain morphology", - "Cerebellar malformation", - "abnormally formed anatomical entity", - "Abnormal cerebellum morphology", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "abnormally increased number of manual digit in the manus", + "abnormally increased number of digit in the appendage girdle complex", + "abnormally increased number of digit in the limb", + "abnormally increased number of anatomical entity in the appendage girdle complex", + "abnormally increased number of anatomical entity in the limb", + "body part movement", + "eye movement", + "decreased sensory perception of sound", + "sensory perception of sound", + "abnormal size of multicellular organism", + "Preaxial polydactyly", + "abnormal growth", + "abnormality of multicellular organism height", + "Short stature", + "delayed biological_process", + "decreased height of the multicellular organism", + "Abnormality of eye movement", + "concave 3-D shape anatomical entity", + "3-D shape anatomical entity", + "Horseshoe kidney", + "abnormal eye movement", + "abnormal artery morphology in the independent continuant", + "heart vasculature", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "abnormal blood vessel morphology", + "trunk blood vessel", + "conceptus", + "abnormal systemic artery morphology", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal blood vessel morphology", + "abnormal great vessel of heart morphology", + "blood vasculature", + "abnormal sensory perception", + "arterial system", + "abnormal anatomical entity morphology in the heart", + "Bone marrow hypocellularity", + "decreased size of the external male genitalia", + "abnormal penis morphology", + "Hypoplastic male external genitalia", + "Hypoplasia of penis", + "abnormal external male genitalia morphology", + "abnormal penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "Hypoplasia of the corpus callosum", + "abnormal size of corpus callosum", + "corpus callosum hypoplasia", + "anatomical entity atresia", + "Esophageal atresia", + "esophagus atresia", + "manual digit 1 metacarpus endochondral element", + "decreased size of the penis", + "Aplasia/Hypoplasia involving the metacarpal bones", + "aplasia or hypoplasia of manual digit 1 phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Aplasia/Hypoplasia of the 1st metacarpal", + "proximal phalanx of manus", + "absent metacarpal bone in the independent continuant", + "abnormal proximal phalanx of manus morphology", + "aplastic metacarpal bone of digit 1", + "systemic artery", + "aplasia or hypoplasia of metacarpal bone", + "abnormal size of eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "abnormal metacarpal bone of digit 1 morphology", + "enucleated reticulocyte", + "Reticulocytopenia", + "reticulocyte", + "abnormal enucleated reticulocyte morphology", + "Pelvic kidney", + "aplasia or hypoplasia of proximal phalanx of manus", + "Short finger", + "decreased length of manual digit", + "Short thumb", + "aplastic phalanx of manus", + "decreased size of the anatomical entity in the pectoral complex", + "Anemic pallor", + "abnormal cellular response to stress", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "delayed growth", + "abnormal DNA damage response", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle process", + "Abnormal cerebral subcortex morphology", + "metacarpus region", + "Thin corpus callosum", + "aplasia or hypoplasia of phalanx of manus", + "white matter", "abnormal cerebral hemisphere white matter morphology", - "Abnormal periventricular white matter morphology", - "Atrophy/Degeneration affecting the central nervous system", - "anatomical entity degeneration", - "Leukoencephalopathy", - "anatomical entity degeneration in independent continuant", - "cerebral hemisphere white matter degeneration", + "central nervous system cell part cluster", + "multi cell part structure", + "brain commissure", + "abnormal number of anatomical enitites of type corpus callosum", + "abnormal cerebral hemisphere morphology", + "commissure of telencephalon", + "neuron projection bundle", + "absent anatomical entity in the brain", + "corpus callosum", + "intercerebral commissure", + "nervous system commissure", + "Hematological neoplasm", + "abnormal erythrocyte morphology", + "vasculature", + "abnormality of cardiovascular system physiology", + "Bruising susceptibility", + "Abnormal bleeding", + "Generalized abnormality of skin", + "Internal hemorrhage", + "Cerebral white matter hypoplasia", + "Abnormality of blood circulation", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "cellular response to stimulus", + "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "absent anatomical entity in the nervous system", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of biosynthetic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "abnormal vascular system morphology", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cerebral hemisphere white matter", + "cellular process", + "oxygen accumulating cell", + "bone cell", + "anucleate cell", + "abnormal cellular process", + "secretory cell", + "abnormal hematopoietic system morphology", + "Abnormality of bone marrow cell morphology", + "erythrocyte", + "Abnormality of thrombocytes", + "Abnormal platelet count", + "sperm", + "germ line cell", + "haploid cell", + "sensory perception", + "brain white matter", + "abnormal developmental process", "Abnormal cerebral white matter morphology", - "abnormal neuroendocrine gland morphology", - "abnormal role blood level", - "Abnormal growth hormone level", - "Abnormality of the kidney", - "decreased biological_process in pituitary gland", - "abnormal diencephalon morphology", - "abnormal hormone independent continuant level", - "decreased biological_process in multicellular organism", - "Abnormality of the anterior pituitary", - "Duodenal atresia", - "anatomical entity hypoplasia in independent continuant", - "Decreased response to growth hormone stimulation test", - "Abnormal duodenum morphology", - "abnormal digestive system", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "arterial blood vessel", + "decreased spermatogenesis", + "abnormal male reproductive system", + "abnormal testis morphology", + "male germ cell", + "Aplasia/Hypoplasia affecting the eye", + "anatomical cluster", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "artery", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "platelet", + "absent sperm in the independent continuant", + "metapodial skeleton", + "Abnormal male reproductive system physiology", + "interphase", + "semen", + "absent gamete", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "male gamete generation", + "abnormal reproductive system morphology", + "external genitalia", + "reproductive process", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "Abnormal renal collecting system morphology", + "Aplasia of the proximal phalanges of the hand", + "decreased qualitatively developmental process", + "decreased qualitatively reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "abnormal blood circulation", + "arm bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", + "Aplasia involving bones of the upper limbs", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "absent radius bone in the forelimb", + "absent forelimb zeugopod bone", + "Abnormal forearm bone morphology", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Small for gestational age", + "abnormal artery morphology", + "Abnormal forearm morphology", + "zeugopod", + "metapodium region", + "Aplasia/hypoplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "forelimb zeugopod", + "Abnormal cardiovascular system physiology", "Aplasia/Hypoplasia of the radius", - "Abnormality of the gastrointestinal tract", - "Abnormal cell morphology", - "phenotype", - "abnormal hindbrain morphology", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "absent kidney", + "Renal hypoplasia/aplasia", + "absent anatomical entity in the renal system", + "immaterial anatomical entity", + "Strabismus", + "Abnormality of globe location", + "Abnormality of the eye", + "anatomical line", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", + "abnormal location of eyeball of camera-type eye", + "Abnormal eye morphology", + "Hypertelorism", + "Abnormal proximal phalanx morphology of the hand", + "erythroid lineage cell", + "non-material anatomical boundary", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "decreased size of the anatomical entity in the independent continuant", + "abnormal camera-type eye morphology", + "orbital region", + "decreased width of the anatomical entity", + "Abnormality of the face", + "Narrow palpebral fissure", + "palpebral fissure", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "Congenital malformation of the great arteries", + "Abnormality of the ocular adnexa", + "aplastic manual digit 1 phalanx", + "Blepharophimosis", + "Abnormality of the orbital region", + "simple eye", + "Abnormality of the palpebral fissures", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal size of palpebral fissure", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "cerebral subcortex", + "Abnormal size of the palpebral fissures", + "abnormal face morphology", + "thoracic segment blood vessel", + "Hypotelorism", + "ocular adnexa", + "camera-type eye", + "Abnormal ocular adnexa morphology", + "abnormal anatomical entity length", + "abnormal skeletal system morphology", + "segment of manus", + "arm", + "endochondral bone", + "subdivision of skeleton", + "appendicular skeletal system", + "Localized skin lesion", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Subcutaneous hemorrhage", + "Abnormal ear morphology", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "skeleton", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "skeletal system", + "metapodium bone 1", + "motile cell", + "Abnormal skeletal morphology", + "abnormally increased number of manual digit 1 in the manus", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "behavior", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "Short palpebral fissure", + "acropodium region", + "increased size of the anatomical entity", + "limb", + "cell", + "bone of appendage girdle complex", + "anatomical wall", + "serotonin secreting cell", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal bone marrow morphology", + "lower respiratory tract", + "Abnormal granulocyte morphology", + "cardiovascular system", + "proximal phalanx", + "abnormal anatomical entity morphology in the manus", + "proximo-distal subdivision of respiratory tract", + "bone marrow", + "Intellectual disability", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "Polydactyly", + "abnormal tracheobronchial tree morphology", + "Abnormality of the respiratory system", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "acropodial skeleton", + "Decreased anatomical entity mass", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Abnormal tracheobronchial morphology", + "Abnormality of DNA repair", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "viscus", + "Azoospermia", + "abnormal granulocyte morphology", + "Aplasia/hypoplasia of the extremities", + "Agenesis of corpus callosum", + "abnormally decreased functionality of the anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "thoracic segment organ", + "subdivision of digestive tract", + "respiratory airway", + "nucleate cell", + "penis", + "digestive system element", + "Preaxial hand polydactyly", + "paired limb/fin", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "digestive system", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "abnormal ear", + "Low-set ears", + "Morphological abnormality of the gastrointestinal tract", + "Duplication of phalanx of hand", + "negative regulation of cellular process", + "abnormal limb", + "abnormal eyelid morphology", + "manus", + "Renal agenesis", + "abnormal respiratory system", + "Abnormality of cardiovascular system morphology", + "Pallor", + "absent radius bone", + "orifice", + "abnormal bone of pectoral complex morphology", + "thoracic cavity element", + "regulation of macromolecule biosynthetic process", + "Thrombocytopenia", + "multicellular organism", + "hematopoietic system", + "abnormal coronary vessel morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "system", + "subdivision of tube", + "increased length of the anatomical line between pupils", + "multi organ part structure", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "cellular metabolic process", + "Abnormality of neutrophils", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "abnormal neutrophil", + "ectoderm-derived structure", + "neutrophil", + "digitopodium region", + "great vessel of heart", + "abnormal myeloid cell morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "circulatory system process", + "Abnormal leukocyte count", + "cavitated compound organ", + "Abnormal cellular immune system morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", "abnormal cerebral subcortex morphology", - "abnormal brain white matter morphology", + "respiratory tube", + "Abnormal vascular morphology", + "abnormal arm", + "renal system", + "forelimb zeugopod bone", + "nervous system", "absent digit", - "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of the gastrointestinal tract", + "phenotype", + "Abnormal cell morphology", + "abnormal digestive system morphology", + "abnormal forelimb morphology", "Gastrointestinal atresia", - "duodenum atresia", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal esophagus morphology", + "outflow tract", + "blood vessel", + "Hyperactivity", + "abnormal platelet morphology", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity topology in independent continuant", + "upper digestive tract", + "anatomical system", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "metacarpal bone", + "abnormal male reproductive organ morphology", + "occurrent", + "material anatomical entity", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "abnormal phalanx of manus morphology", + "Growth delay", + "abnormal biological_process", + "kidney", + "regional part of nervous system", + "Abnormality of body height", + "tube", + "abnormally localised anatomical entity in independent continuant", + "radius endochondral element", + "abnormal behavior", + "Abnormal cellular phenotype", + "abnormality of internal male genitalia physiology", "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", + "axial skeleton plus cranial skeleton", + "Micropenis", + "Abnormal hand morphology", + "Metazoa", + "abnormality of anatomical entity physiology", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "organ part", + "multicellular organismal process", + "abnormal limb morphology", + "anatomical conduit", + "genitourinary system", + "endocrine system", + "forelimb skeleton", + "Abnormal conjugate eye movement", + "anatomical entity hypoplasia", + "forelimb bone", + "non-connected functional system", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal closing of the anatomical entity", + "aplasia or hypoplasia of corpus callosum", + "abnormal response to stimulus", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Hearing abnormality", + "abnormal esophagus morphology", + "entity", + "decreased length of anatomical entity", + "bone of pectoral complex", + "shape kidney", + "negative regulation of metabolic process", + "developmental process", + "manual digit 1 or 5", + "Tracheoesophageal fistula", "Neoplasm", - "malformed anatomical entity", - "Morphological central nervous system abnormality", + "abnormal hematopoietic system", + "Aplasia/Hypoplasia of the thumb", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "hematopoietic cell", + "protein-DNA complex organization", + "vestibulo-auditory system", + "abnormally localised anatomical entity", + "abnormal gamete generation", + "leukocyte", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "axon tract", + "abnormal upper urinary tract", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal anatomical entity", + "abnormal immune system", + "aplastic manual digit 1", + "pigmentation", + "Abnormal finger phalanx morphology", + "Abnormal eye physiology", + "segment of autopod", + "manual digitopodium bone", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "renal collecting system", + "Ectopic kidney", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "behavior process", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "cleft anatomical entity in independent continuant", + "quality", + "Reduced impulse control", + "nucleobase-containing compound metabolic process", + "Short attention span", + "U-shaped anatomical entity", + "abnormal location of external ear", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "Atypical behavior", + "Abnormality of the kidney", + "phalanx endochondral element", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "digestive tract", + "vessel", + "DNA damage response", + "lateral structure", + "abnormal dorsal telencephalic commissure morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormal postcranial axial skeleton morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "biological_process", + "myeloid leukocyte", + "Abnormal localization of kidney", + "abnormal external genitalia", + "Abnormal renal morphology", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "systemic arterial system", + "absent radius bone in the independent continuant", + "entire sense organ system", + "abnormal multicellular organismal reproductive process", + "manual digit", + "abdomen element", + "dorsal telencephalic commissure", + "abnormal brain commissure morphology", + "abnormal vasculature", + "changed developmental process rate", + "abnormal genitourinary system", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "abnormal blood cell", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "manual digit 1 phalanx", + "decreased length of palpebral fissure", + "abnormal digestive system", + "Attention deficit hyperactivity disorder", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "Macule", + "abnormally increased number of manual digit in the independent continuant", + "excretory system", + "bone marrow cell", + "circulatory system", + "endoderm-derived structure", + "trunk region element", + "cell cycle", + "pectoral complex", + "abnormal kidney morphology", + "main body axis", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "transudate", + "abnormal central nervous system morphology", + "abnormality of male reproductive system physiology", + "abnormally localised kidney", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "regulation of gene expression", + "respiratory system", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "body proper", + "abnormal nervous system", + "abnormal manus morphology", + "Prolonged G2 phase of cell cycle", + "abnormal blood cell morphology", + "pectoral appendage skeleton", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "embryonic cardiovascular system", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "abnormality of nervous system physiology", + "Reduced attention regulation", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "response to stimulus", + "Abnormal eyelid morphology", + "abnormally decreased number of granulocyte", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "external male genitalia", + "shape long bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "absent sperm", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "abnormal immune system morphology", + "shape phalanx of manus", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormally decreased number of reticulocyte", + "Abnormal tracheal morphology", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 plus metapodial segment", + "abdomen", + "abnormal hematopoietic cell morphology", + "bone element", + "abnormally increased number of manual digit 1 in the independent continuant", + "abnormality of camera-type eye physiology", + "immune system", + "Leukemia", + "abnormal cell morphology", + "abnormal nervous system morphology", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "white matter of forebrain", + "forebrain", + "abnormally decreased number of hematopoietic cell", + "subdivision of trunk", + "Abnormal thumb morphology", + "decreased length of digit", + "Abnormality of the male genitalia", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormal respiratory system morphology", + "Abnormal granulocyte count", + "Abnormal corpus callosum morphology", + "organism", + "biogenic amine secreting cell", + "trachea", + "Abnormality of the skeletal system", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "eye", + "compound organ", + "limb long bone", + "abnormally decreased number of myeloid cell", + "Aplasia/Hypoplasia of fingers", + "skeleton of pectoral complex", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "Abnormal digit morphology", + "head", + "Decreased body weight", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "Aplasia of metacarpal bones", + "abnormal face", + "digit", + "decreased size of the corpus callosum", + "Hyperpigmentation of the skin", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "paired limb/fin segment", + "endochondral element", + "multi-limb segment region", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "appendage", + "root", + "digit plus metapodial segment", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "Hand polydactyly", + "aplasia or hypoplasia of manual digit 1", + "absent metacarpal bone", + "absent anatomical entity", + "manual digit phalanx endochondral element", + "Absent forearm bone", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "paired limb/fin skeleton", + "organelle organization", + "abnormal spermatogenesis", + "postcranial axial skeletal system", + "penis hypoplasia", + "limb endochondral element", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeletal element", + "skeleton of limb", + "Abnormality of skin pigmentation", + "skeleton of manus", + "cell cycle phase", + "Abnormal pancreas morphology", + "organ", + "abnormal pancreas morphology", + "Abnormality of the pancreas", + "abnormal integument", + "Annular pancreas", + "abnormal pancreas", + "cognition", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "ventricular system of brain", + "Cognitive impairment", + "Neurodevelopmental abnormality", + "system process", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "cleft manual digit 1 phalanx", + "organism substance", + "abnormal brain white matter morphology", + "abnormal gamete", + "Abnormality of the outer ear", + "ventricular system of central nervous system", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "pancreas", + "organ component layer", + "Morphological central nervous system abnormality", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "decreased length of anatomical line between pupils", + "ventricle of nervous system", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "limb skeleton subdivision", + "skull", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "eyeball of camera-type eye", + "brain ventricle", + "metacarpus skeleton", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal brain ventricle morphology", + "absent anatomical entity in the metacarpus region", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "vasculature of trunk", + "heart plus pericardium", + "circulatory organ", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "abnormal head morphology", + "increased biological_process", + "abnormal external ear", + "sensory system", + "Abnormality of the abdominal organs", + "autopod region", "Aplasia/Hypoplasia of the cerebrum", - "Abnormal metencephalon morphology", - "abnormal secretion by cell", + "gonad", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Abnormal neutrophil count", + "Decreased anatomical entity position", + "absent anatomical entity in the central nervous system", + "abnormal ear morphology", + "Microphthalmia", + "abnormal external ear morphology", + "postcranial axial skeleton", + "ear", + "abnormal craniocervical region morphology", + "Abnormality of chromosome stability", + "immaterial entity", + "anatomical entity dysfunction in independent continuant", + "eyelid", + "abnormally decreased number of leukocyte", + "Abnormality of the ear", + "Patent ductus arteriosus", + "Abnormal pinna morphology", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "craniocervical region", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal long bone morphology", + "Decreased external ear position", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "abnormal location of ear", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal size of anatomical entity", + "Abnormal axial skeleton morphology", + "bodily fluid", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "abnormally decreased number of granulocyte in the independent continuant", "Abnormal skull morphology", - "decreased embryo development", - "abnormal brain morphology", - "abnormal hypothalamus-pituitary axis", + "absent corpus callosum", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Hearing impairment", + "abnormal metacarpal bone morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "regional part of brain", + "Growth abnormality", + "axial skeletal system", + "abnormal palpebral fissure", + "abnormal skull morphology", + "reproductive organ", + "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", + "telencephalon", "Decreased head circumference", - "Abnormal axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal size of anatomical entity", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal midface morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", + "external ear", "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal developmental process", - "Polysplenia", - "Abnormal appendicular skeleton morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormality of endocrine system physiology", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "abnormal embryo development", - "Abnormality of limb bone morphology", - "Hypopituitarism", - "Abnormality of limbs", - "abnormal brain ventricle/choroid plexus morphology", - "aplastic anatomical entity", - "abnormal vasculature", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal chemical entity level", - "abnormal spleen morphology", - "Abnormality of the musculoskeletal system", - "Neurodegeneration", - "agenesis of anatomical entity", - "decreased developmental process", - "abnormal endocrine system morphology", - "All", - "Abnormal upper limb bone morphology", - "Abnormal cerebral ventricle morphology", - "decreased qualitatively biological_process", - "absent anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "abnormal small intestine", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal forebrain morphology", + "abnormality of anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormal phalanx morphology", + "absent sperm in the semen", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "shape anatomical entity in pectoral complex", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "abnormal trachea morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormally increased number of anatomical entity in the manus", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of male external genitalia", + "Partial duplication of thumb phalanx", + "shape limb long bone", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "Duplication of hand bones", + "Renal duplication", + "Partial duplication of the phalanx of hand", + "Duplication of bones involving the upper extremities", + "increased anatomical entity length in independent continuant", + "shape forelimb bone", + "concave anatomical entity", + "decreased qualitatively sensory perception of mechanical stimulus", + "cleft anatomical entity", + "primary circulatory organ", + "skeleton of manual digitopodium", + "glandular system", + "manual digit digitopodial skeleton", + "shape manual digit 1 phalanx", + "digit 1 digitopodial skeleton", + "abnormal respiratory tube morphology", + "abnormal pigmentation in independent continuant", + "heart blood vessel", + "eukaryotic cell", + "abnormal limb long bone morphology", + "Abnormality of thumb phalanx", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "shape anatomical entity in manual digit 1", + "Short digit", + "skeleton of digitopodium", + "white matter of telencephalon", + "regulation of cellular metabolic process", + "individual digit of digitopodial skeleton", + "Anemia", + "radius bone", + "Abnormality of the hand", + "manus bone", + "abnormal size of skull", + "forelimb long bone", + "metapodium bone", + "metacarpal bone of digit 1", + "skeleton of manual acropodium", + "digitopodium bone", + "vasculature of organ", + "phalanx", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "phalanx of manus", + "tissue", + "manual digit 1 phalanx endochondral element", "changed biological_process rate", - "abnormal pituitary gland morphology", - "Growth abnormality", - "abnormal cellular process", - "Abnormality of skull size", - "Abnormality of head or neck", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal gland morphology", - "Morphological abnormality of the gastrointestinal tract", - "decreased qualitatively biological_process in central nervous system", - "abnormal cerebral hemisphere morphology", - "alimentary part of gastrointestinal system atresia", - "abnormal adenohypophysis", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal hand morphology", - "Neoplasm by anatomical site", - "absent anatomical entity in the independent continuant", - "abnormal small intestine morphology", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "Myelodysplasia", - "Abnormal nervous system morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal duodenum morphology", - "Phenotypic abnormality", + "increased biological_process in skin of body", + "abnormally increased number of digit in the independent continuant", + "Abnormality of skin morphology", "increased size of the anatomical entity in independent continuant", - "changed biological_process rate in brain", - "quality", - "abnormal limb bone morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal manus", - "abnormal size of skull", - "abnormal hormone blood level", - "abnormal digestive system morphology", - "kidney hypoplasia", - "Finger aplasia", - "abnormal localization", - "abnormal skull morphology", - "Anterior hypopituitarism", - "Abnormal thumb morphology", - "abnormal nervous system", - "abnormal secretion in independent continuant", - "decreased secretion in pituitary gland", - "Abnormal cerebral subcortex morphology", - "abnormal head morphology", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "midface hypoplasia", - "Abnormal intestine morphology", - "Abnormal pituitary gland morphology", - "Abnormal endocrine morphology", - "absent anatomical entity in the forelimb", - "abnormal arm", - "Chiari malformation", - "Abnormality of the head", - "Abnormal cerebral morphology", + "Abnormality of the integument", + "abnormal skin of body", + "integumental system", + "integument", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormally decreased number of anatomical entity in the independent continuant", "abnormal anatomical entity morphology", - "specifically dependent continuant", - "aplastic manual digit 1", - "abnormal intestine morphology", - "abnormal anatomical entity morphology in the brain", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "Abnormal small intestine morphology", - "Abnormality of limb bone", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "absent anatomical entity in the multicellular organism", - "aplasia or hypoplasia of manual digit", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "abnormal appendicular skeleton morphology", - "Absent thumb", - "abnormal autopod region morphology", - "abnormally increased number of spleen", - "Intestinal atresia", - "abnormal face morphology", - "Limb undergrowth", - "decreased length of long bone", - "delayed biological_process", - "Short forearm", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "Aplasia/Hypoplasia of the thumb", - "abnormal size of brain ventricle", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", "decreased size of the anatomical entity", - "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity", - "abnormal growth hormone secretion", - "abnormal bone of pectoral complex morphology", - "abnormal limb long bone morphology", - "Abnormality of the hand", - "Hematological neoplasm", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal hematopoietic system", - "Abnormality of blood and blood-forming tissues", - "abnormal brain ventricle morphology", - "increased size of the brain ventricle", - "Ventriculomegaly", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Growth delay", - "Supernumerary spleens", - "abnormal growth", - "abnormal digit", - "abnormal development of anatomical entity", - "decreased qualitatively developmental process", - "abnormal bone marrow morphology", - "decreased biological_process in independent continuant", - "abnormal manual digit 1 morphology", - "Intrauterine growth retardation", - "changed embryo development rate", - "Abnormal spleen morphology", - "decreased qualitatively biological_process in independent continuant", - "abnormal radius bone morphology", - "abnormal hemopoietic organ morphology", - "abnormally increased number of anatomical entity", - "abnormal spleen", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal diencephalon", - "Abnormality of the abdominal organs", - "radius bone hypoplasia", - "Abnormality of the vasculature", - "delayed growth", - "abnormal cardiovascular system", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the lymphatic system", - "abnormal genitourinary system", - "abnormal lymphatic part of lymphoid system", - "abnormal immune system", - "Short long bone", - "abnormally increased number of anatomical entity in the abdomen", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Abnormality of the immune system", - "Abnormality of the spleen", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "abnormal transport", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "tract of brain", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", "abnormal endocrine system", - "decreased growth hormone secretion", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal multicellular organism chemical entity level", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal biological_process in central nervous system", - "decreased biological_process in brain", - "intestine atresia", - "Abnormal endocrine physiology", "Abnormality of the endocrine system", - "decreased secretion in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormal response to endocrine stimulation test", - "Abnormality of the diencephalon", - "abnormal independent continuant chemical entity level", - "Abnormal circulating hormone concentration", - "abnormal role independent continuant level", - "phenotype by ontology source", - "abnormal endocrine gland morphology", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "Abnormality of reproductive system physiology", + "Puberty and gonadal disorders", ], - "has_phenotype_count": 16, + "has_phenotype_count": 50, "highlight": None, "score": None, }, { - "id": "MONDO:0011325", + "id": "MONDO:0013565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group F", + "name": "Fanconi anemia complementation group G", "full_name": None, "deprecated": None, - "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", - "xref": ["DOID:0111088", "EFO:0009045", "GARD:15355", "NCIT:C125707", "OMIM:603467"], + "description": "Fanconi anemia caused by mutations of the FANCG gene.", + "xref": ["DOID:0111086", "GARD:15753", "NCIT:C125708", "OMIM:614082"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCF", - "Fanconi Anemia, complementation group type F", - "Fanconi anaemia complementation group type F", - "Fanconi anemia complementation group F", - "Fanconi anemia complementation group type F", - "Fanconi anemia, complementation group F", + "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:0009777", - "HP:0000960", - "HP:0002247", - "HP:0002984", - "HP:0000028", - "HP:0001631", - "HP:0009778", - "HP:0001873", - "HP:0000125", - "HP:0000405", - "HP:0000824", - "HP:0001511", - "HP:0008551", - "HP:0000750", - "HP:0001882", + "HP:0001875", + "HP:0002863", "HP:0000252", - "HP:0000957", + "HP:0001510", + "HP:0001873", + "HP:0007565", "HP:0000568", - "HP:0002090", - "HP:0003221", - "HP:0000076", - "HP:0001643", - "HP:0005528", - "HP:0030260", - "HP:0000953", - "HP:0001328", + "HP:0001172", "HP:0001903", - "HP:0001508", - "HP:0001195", - "HP:0000089", - "HP:0001233", - "HP:0004322", - "HP:0001561", - "HP:0011419", + "HP:0003220", + "HP:0001909", ], "has_phenotype_label": [ - "Absent thumb", - "Sacral dimple", - "Duodenal atresia", - "Hypoplasia of the radius", - "Cryptorchidism", - "Atrial septal defect", - "Short thumb", - "Thrombocytopenia", - "Pelvic kidney", - "Conductive hearing impairment", - "Decreased response to growth hormone stimulation test", - "Intrauterine growth retardation", - "Microtia", - "Delayed speech and language development", - "Leukopenia", + "Neutropenia", + "Myelodysplasia", "Microcephaly", - "Cafe-au-lait spot", + "Growth delay", + "Thrombocytopenia", + "Multiple cafe-au-lait spots", "Microphthalmia", - "Pneumonia", - "Chromosomal breakage induced by crosslinking agents", - "Vesicoureteral reflux", - "Patent ductus arteriosus", - "Bone marrow hypocellularity", - "Microphallus", - "Hyperpigmentation of the skin", - "Specific learning disability", + "Abnormal thumb morphology", "Anemia", - "Failure to thrive", - "Single umbilical artery", - "Renal hypoplasia", - "2-3 finger syndactyly", - "Short stature", - "Polyhydramnios", - "Placental abruption", + "Abnormality of chromosome stability", + "Leukemia", ], "has_phenotype_closure": [ - "UPHENO:0005170", - "HP:0011419", - "HP:0100767", - "HP:0001561", - "UPHENO:0080351", - "UPHENO:0075159", - "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0081423", - "UPHENO:0078215", - 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"HP:0002246", - "HP:0002589", - "BFO:0000001", - "UPHENO:0002635", - "HP:0031072", - "HP:0012718", - "UPHENO:0080099", + "UBERON:0010230", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0001444", + "UPHENO:0068971", + "UBERON:0002104", + "HP:0025461", + "UPHENO:0076805", + "UBERON:0000047", + "UPHENO:0069523", + "UPHENO:0020888", + "GO:0008150", + "UPHENO:0075997", + "UPHENO:0012541", + ], + "has_phenotype_closure_label": [ + "Abnormal cellular physiology", + "Abnormality of metabolism/homeostasis", + "metabolic process", + "obsolete cell", + "oxygen accumulating cell", + "Abnormal erythrocyte morphology", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "skeletal element", + "subdivision of organism along appendicular axis", + "limb endochondral element", + "system", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal digit morphology", + "abnormal manual digit 1 morphology", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "pectoral complex", + "Abnormal digit morphology", + "limb skeleton subdivision", + "Abnormal finger morphology", + "arm", + "bone of appendage girdle complex", + "manual digit 1 plus metapodial segment", + "appendicular skeletal system", + "bone of free limb or fin", + "abnormal autopod region morphology", + "abnormal manual digit morphology in the independent continuant", + "segment of autopod", + "appendicular skeleton", + "upper limb segment", + "digit 1", + "paired limb/fin", + "abnormal limb morphology", + "Abnormality of limb bone morphology", + "abnormal forelimb morphology", + "manual digitopodium region", + "appendage girdle complex", + "Abnormality of limbs", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the manus", + "abnormal manus morphology", + "acropodium region", + "digitopodium region", + "forelimb", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal digit", + "cellular organisms", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "regional part of nervous system", + "forebrain", + "abnormal craniocervical region morphology", + "endochondral bone", + "subdivision of skeleton", + "skin of body", + "skull", + "Abnormality of the skeletal system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "decreased size of the anatomical entity", + "multi-tissue structure", + "Myelodysplasia", + "immune system", + "appendage", + "root", + "myeloid cell", + "hemolymphoid system", + "hematopoietic cell", + "Abnormality of the face", + "eukaryotic cell", + "integument", + "autopod region", + "organism", + "anatomical system", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "Abnormality of the hand", + "Hematological neoplasm", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "Eukaryota", + "Eumetazoa", + "abnormal cell", + "abnormally decreased number of cell", + "skeleton", + "neutrophil", + "Morphological central nervous system abnormality", + "Abnormal granulocyte morphology", + "Abnormal leukocyte count", + "abnormal myeloid leukocyte morphology", + "abnormal skull morphology", + "Abnormal platelet morphology", + "mesoderm-derived structure", + "abnormal head morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "Neoplasm by anatomical site", + "quality", + "Abnormal cell morphology", + "phenotype", + "anatomical entity", + "Abnormality of the skin", + "anatomical structure", + "organism subdivision", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal hematopoietic cell morphology", + "bone element", + "abnormally decreased number of leukocyte", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal neutrophil count", + "Abnormality of neutrophils", + "Abnormality of skull size", + "multicellular anatomical structure", + "skeletal system", + "motile cell", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "autopodial extension", + "abnormal face", + "manual digit 1 or 5", + "Neoplasm", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "Macule", + "Abnormal cellular phenotype", + "abnormal phenotype by ontology source", + "erythrocyte", + "organ system subdivision", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "disconnected anatomical group", + "abnormal hematopoietic system", + "Abnormality of blood and blood-forming tissues", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "abnormal anatomical entity", + "abnormal immune system", + "abnormally decreased number of cell in the independent continuant", + "Neutropenia", + "nucleate cell", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "serotonin secreting cell", + "Anemia", + "camera-type eye", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal number of anatomical enitites of type granulocyte", + "non-connected functional system", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormal manual digit morphology in the manus", + "blood cell", + "digit", + "Hyperpigmentation of the skin", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "abnormal granulocyte morphology", + "abnormal craniocervical region", + "skeleton of limb", + "Abnormality of skin pigmentation", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", + "anucleate cell", + "hematopoietic system", + "multicellular organism", + "Abnormality of the orbital region", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "segment of manus", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormality of head or neck", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "manual digit", + "Abnormal eye morphology", + "central nervous system", + "regional part of brain", + "nervous system", + "abnormal orbital region", + "Growth abnormality", + "face", + "Abnormality of the eye", + "musculoskeletal system", + "Abnormality of the integument", + "abnormal skin of body", + "craniocervical region", + "Leukemia", + "entity", + "subdivision of skeletal system", + "axial skeletal system", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormality of skin morphology", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "Irregular hyperpigmentation", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", + "abnormal postcranial axial skeleton morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal cell morphology", + "abnormal nervous system morphology", + "platelet", + "telencephalon", + "Abnormality of limb bone", + "head", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "subdivision of organism along main body axis", + "main body axis", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Metazoa", + "abnormal size of skull", + "Decreased head circumference", + "delayed growth", + "abnormal telencephalon morphology", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "body proper", + "pectoral appendage", + "organ", + "occurrent", + "delayed biological_process", + "abnormal biological_process", + "Growth delay", + "independent continuant", + "abnormal leukocyte morphology", + "abnormal growth", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet", + "Abnormal hand morphology", + "Localized skin lesion", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal face morphology", + "integumental system", + "increased pigmentation", + "increased pigmentation in independent continuant", + "Abnormality of globe size", + "Microcephaly", + "changed biological_process rate in independent continuant", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "Cafe-au-lait spot", + "abnormal pigmentation in independent continuant", + "abnormal skin of body morphology", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Hypermelanotic macule", + "increased biological_process in independent continuant", + "Abnormality of the upper limb", + "cell", + "limb", + "increased pigmentation in skin of body", + "abnormal pigmentation", + "biogenic amine secreting cell", + "simple eye", + "abnormal eyeball of camera-type eye", + "lateral structure", + "abnormal integument", + "eyeball of camera-type eye", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "Multiple cafe-au-lait spots", + "abnormal skeletal system", + "Microphthalmia", + "orbital region", + "paired limb/fin segment", + "Opisthokonta", + "eye", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of brain morphology", + "subdivision of head", + "continuant", + "entire sense organ system", + "abnormal anatomical entity morphology in the brain", + "visual system", + "pigmentation", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal arm", + "manus", + "abnormal limb", + "abnormal immune system morphology", + "manual digit 1", + ], + "has_phenotype_count": 11, + "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", + "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:0000957", + "HP:0002023", + "HP:0000252", + "HP:0004808", + "HP:0009778", + "HP:0005528", + "HP:0001511", + "HP:0003221", + "HP:0001508", + "HP:0004322", + "HP:0006727", + ], + "has_phenotype_label": [ + "Cafe-au-lait spot", + "Anal atresia", + "Microcephaly", + "Acute myeloid leukemia", + "Short thumb", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Chromosomal breakage induced by crosslinking agents", + "Failure to thrive", + "Short stature", + "T-cell acute lymphoblastic leukemias", + ], + "has_phenotype_closure": [ + "HP:0006727", + "HP:0006721", + "UPHENO:0081424", + "HP:0000002", + "UPHENO:0080351", + "HP:0004325", + "UPHENO:0082761", + "UPHENO:0010795", "UPHENO:0010763", - 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"UPHENO:0046707", - "UPHENO:0074575", - "UPHENO:0049587", - "HP:0011747", - "HP:0009115", - "UPHENO:0004523", - "UPHENO:0002595", - "UPHENO:0079826", - "UPHENO:0077889", + "HP:0001508", + "UPHENO:0054299", + "HP:0003220", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:0043170", + "GO:0006139", + "GO:0034641", + "GO:0010629", + "UPHENO:0050021", + "GO:0010468", + "GO:0031327", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "HP:0003221", + "UPHENO:0049990", + "GO:0005623", + "GO:0031049", + "GO:0006807", + "GO:0071840", + "UPHENO:0049748", + "GO:0031052", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "GO:0065007", + "GO:0008152", + "GO:0009987", "UPHENO:0050116", - "UPHENO:0076287", - "HP:0002060", - "HP:0012372", - "HP:0011452", - "UPHENO:0086735", - "UPHENO:0080221", - "HP:0032367", - "UPHENO:0087186", - "UPHENO:0081435", - "UPHENO:0020888", - "UPHENO:0075997", - "UPHENO:0042775", - "HP:0000818", - "UPHENO:0075772", - "UPHENO:0074572", - "HP:0001511", + "GO:0006996", + "HP:0001939", + "UPHENO:0050113", + "HP:0001510", + "UPHENO:0049874", + "UPHENO:0005597", + "UPHENO:0050034", + "UPHENO:0005642", + "UPHENO:0080382", "UPHENO:0000543", - 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"UPHENO:0080200", - "BFO:0000020", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0050845", + "HP:0004377", + "HP:0011121", "UPHENO:0081566", - "HP:0000957", - "UPHENO:0074584", - "HP:0033127", + "HP:0025461", + "UPHENO:0076805", + "GO:0050789", + "UBERON:0013701", + "UBERON:0002204", + "HP:0000240", + "UPHENO:0005431", + "UBERON:0000475", + "HP:0012443", + "UPHENO:0004523", + "UBERON:0010758", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0046624", + "UBERON:0000033", + "HP:0025354", + "PATO:0000001", + "UBERON:0001017", + "UBERON:0011676", + "UPHENO:0076740", + "UPHENO:0076703", + "UBERON:0010314", + "UBERON:0001062", + "HP:0004322", + "UBERON:0015061", + "UBERON:0003129", + "UPHENO:0002833", + "UPHENO:0080099", + "UPHENO:0080126", + "UPHENO:0076799", + "UBERON:0000481", "HP:0007400", + "UBERON:0000479", + "UBERON:0001007", + "GO:0090304", + "UPHENO:0015280", + "UPHENO:0002839", + "UBERON:0006048", + "UPHENO:0074228", + "HP:0040195", + "UPHENO:0001005", + "BFO:0000002", + "HP:0012639", + "UBERON:0000025", + "HP:0002715", + "UBERON:0000161", + "HP:0025031", + "UBERON:0011137", + "UPHENO:0078606", + "HP:0002664", + "HP:0002488", + "UPHENO:0074589", + "HP:0004378", + "UBERON:0000465", + "HP:0002060", + "CL:0000988", + "UPHENO:0076791", + "UPHENO:0086589", + "UPHENO:0049873", + "HP:0005561", + "UBERON:0000153", + "HP:0000951", + "UPHENO:0002896", + "HP:0011793", + "HP:0002023", + "UPHENO:0063599", "UPHENO:0080662", - "HP:0000050", - "UPHENO:0054970", - "UPHENO:0082682", - "HP:0000002", - "UPHENO:0076740", + "UBERON:0004120", + "UBERON:0010707", + "BFO:0000015", + "UBERON:0019221", + "UBERON:0000062", + "UPHENO:0076803", + "BFO:0000020", + "UBERON:0001555", + "UPHENO:0059829", + "UBERON:0004121", + "UBERON:0010740", + "UBERON:0002416", + "HP:0000001", + "UBERON:0001442", + "GO:0043473", + "HP:0025033", "HP:0000953", - "UPHENO:0003020", - "UPHENO:0002725", - "UPHENO:0069523", - "HP:0000125", - "UPHENO:0002910", - "HP:0000568", - "HP:0030962", - "UPHENO:0020041", - "HP:0000271", - "HP:0000478", - "HP:0100887", - "HP:0012252", - "HP:0012647", - "HP:0002090", - "HP:0012649", - "UPHENO:0086908", - "UPHENO:0076812", - "UPHENO:0074685", - "HP:0010978", - "UPHENO:0074589", - "UPHENO:0076684", - "UPHENO:0074804", - "UPHENO:0015329", - "UPHENO:0004536", - "UPHENO:0002827", - "UPHENO:0082723", - "UPHENO:0086700", - "UPHENO:0020748", - "HP:0011994", - "UPHENO:0074722", + "NCBITaxon:6072", + "UPHENO:0020888", + "GO:0008150", + "HP:0045060", + "UBERON:0000468", + "UBERON:0001463", + "UBERON:0001245", + "UPHENO:0002635", + "UBERON:0010712", + "UPHENO:0087089", + "UPHENO:0086644", + "HP:0011355", + "UPHENO:0075195", + "UBERON:0002097", + "HP:0000252", + "UPHENO:0085195", + "UBERON:0012475", + "HP:0001574", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0088186", + "UPHENO:0001002", + "HP:0000152", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0002470", + "UPHENO:0074584", + "BFO:0000040", + "BFO:0000004", + "GO:0048856", + "UPHENO:0003811", + "GO:0060255", + "UPHENO:0082682", + "HP:0000118", + "GO:0007275", + "HP:0034915", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0002616", + "UPHENO:0054970", + "CL:0000000", + "UPHENO:0080221", + "HP:0001034", + "HP:0000957", + "OBI:0100026", + "UPHENO:0087518", + "UPHENO:0050008", + "UPHENO:0060026", + "UBERON:0001016", + "UPHENO:0080377", + "UBERON:0011216", + "UBERON:0007811", + "UPHENO:0050121", + "GO:0009790", + "UPHENO:0074572", + "NCBITaxon:1", + "UPHENO:0054261", + "UBERON:0006717", + "UPHENO:0001003", + "GO:0016043", + "HP:0002011", + "UPHENO:0074575", + "HP:0007364", + "UPHENO:0076739", + "BFO:0000003", + "GO:0010556", + "PR:000050567", + "UBERON:5002389", + "HP:0012733", + "UPHENO:0002905", + "HP:0009121", + "UPHENO:0002764", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "UBERON:0002101", + "UPHENO:0002964", + "HP:0002813", + "UBERON:0013702", + "NCBITaxon:33154", + "UPHENO:0022529", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0076702", + "HP:0001000", + "UBERON:0012354", + "UPHENO:0076692", + "UPHENO:0002536", + "NCBITaxon:33208", + "UBERON:0001890", + "UPHENO:0080200", + "UBERON:0005944", + "UBERON:0034925", + "UPHENO:0050108", + "UPHENO:0085144", + "UBERON:0004288", + "UBERON:0034923", + "HP:0040012", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0063565", + "UBERON:0010912", + "UPHENO:0087123", + "HP:0001909", + "UPHENO:0031839", + "UBERON:0010000", + "UBERON:0002390", "HP:0000707", - "UPHENO:0049748", - "UPHENO:0050021", - "HP:0000009", - "UPHENO:0050845", - "HP:0001939", - "HP:0003221", - "UPHENO:0083648", + "UPHENO:0086172", + "HP:0009115", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0081436", + "HP:0001881", + "HP:0032251", + "HP:0004808", + "UPHENO:0002948", + "UBERON:0002544", + "CL:0000255", + "GO:0010558", + "UBERON:0008785", + "GO:0071704", + "CL:0000219", + "CL:0002242", + "UBERON:0002199", + "UBERON:0002193", + "UPHENO:0086633", + "HP:0006496", + "UBERON:0001434", + "HP:0009778", + "UPHENO:0053208", + "UBERON:0002102", + "UBERON:0004111", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0002398", + "HP:0040064", + "HP:0001167", + "UBERON:0000061", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "GO:1901360", + "UPHENO:0002830", + "UBERON:0015212", + "UPHENO:0081435", + "UBERON:5006048", + "GO:0006259", + "UBERON:0001474", + "UBERON:0010538", + "UBERON:0004710", + "UPHENO:0084448", + "GO:0044237", + "HP:0002977", + "UBERON:0010363", + "UBERON:0006058", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "HP:0033127", + "UPHENO:0086635", + "UBERON:0012139", + "UBERON:0010323", + "UPHENO:0046707", + "HP:0009601", + "UBERON:0000955", + "HP:0000929", + "UBERON:0000073", + "RO:0002577", "HP:0011017", - "HP:0010936", - "UPHENO:0002806", - "HP:0000069", - "UPHENO:0075852", - "HP:0000014", - "UPHENO:0075933", - "HP:0031073", - "UPHENO:0076765", - "HP:0025015", - "UPHENO:0086797", - "HP:0012130", - "UPHENO:0033603", - "HP:0033353", - "UPHENO:0076729", - "HP:0000830", - "HP:0001643", - "UPHENO:0087339", - "UPHENO:0063629", - "UPHENO:0085195", - "HP:0031071", - "HP:0005528", + "UBERON:0012141", + "UPHENO:0002708", + "UPHENO:0046505", + "UBERON:5002544", + "NCBITaxon:131567", + "UPHENO:0076723", + "UBERON:0010708", + "CL:0000738", + "UBERON:0005881", + "UPHENO:0068971", + "UPHENO:0076727", + "UBERON:0004381", + "UBERON:0007272", + "UPHENO:0054957", + "UPHENO:0004459", + "UBERON:0002428", + "NCBITaxon:2759", + "UBERON:0002389", + "UBERON:5001463", + "GO:0031323", + "UBERON:0011138", + "UBERON:0002513", ], "has_phenotype_closure_label": [ - "Placental abruption", - "Abnormal placenta morphology", - "abnormal female reproductive system", - "abnormal amniotic fluid", - "Abnormality of the amniotic fluid", - "Short stature", - "abnormality of anatomical entity height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "T-cell acute lymphoblastic leukemias", "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "decreased size of the multicellular organism", + "decreased height of the multicellular organism", "Abnormality of body height", - "abnormal size of multicellular organism", - "abnormal manual digit 2 morphology", - "Abnormal 2nd finger morphology", - "abnormally fused manual digit 2 and manual digit 3", - "Finger syndactyly", - "abnormally fused anatomical entity and manual digit 3", - "Syndactyly", - "abnormally fused digit and anatomical entity", - "2-3 finger syndactyly", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormally fused digit and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormally fused anatomical entity and digit", - "Renal hypoplasia", - "decreased size of the kidney", - "Fetal ultrasound soft marker", - "abnormal late embryo", - "Single umbilical artery", - "abnormal umbilical cord", - "Abnormality of the umbilical cord", - "Abnormal umbilical cord blood vessel morphology", - "Decreased body weight", - "abnormality of anatomical entity mass", "Failure to thrive", + "abnormality of anatomical entity mass", + "decreased multicellular organism mass", + "Abnormality of body weight", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "Sacral dimple", - "abnormally decreased number of myeloid cell", - "Abnormal cardiac atrium morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Congenital malformation of the great arteries", - "Abnormal platelet count", - "abnormal sensory perception of sound", - "abnormal platelet morphology", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "Short digit", - "Short thumb", - "Intrauterine growth retardation", - "abnormal vascular system morphology", - "Short finger", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", + "Chromosomal breakage induced by crosslinking agents", "abnormal cellular metabolic process", - "abnormal cardiac atrium morphology", - "abnormal hypothalamus-pituitary axis", - "abnormal cardiac septum morphology", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "abnormally localised anatomical entity", - "Abnormality of the genital system", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "Abnormal penis morphology", - "abnormal number of anatomical enitites of type sperm", - "absent sperm", - "abnormally localised anatomical entity in independent continuant", - "absent sperm in the independent continuant", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal male reproductive system", - "decreased qualitatively developmental process", - "abnormal ureter", - "Abnormality of male external genitalia", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "Polyhydramnios", + "regulation of macromolecule biosynthetic process", + "negative regulation of biosynthetic process", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular metabolic process", + "cellular component organization or biogenesis", + "abnormal primary metabolic process", + "programmed DNA elimination", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "metabolic process", + "obsolete cell", + "abnormal programmed DNA elimination by chromosome breakage", + "delayed growth", + "abnormal embryo development", + "Growth delay", + "embryo development", + "anatomical structure development", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "delayed biological_process", + "decreased embryo development", + "developmental process", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "Acute lymphoblastic leukemia", + "growth", + "programmed DNA elimination by chromosome breakage", + "Growth abnormality", + "abnormal hematopoietic system morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "skeleton of manus", + "limb bone", + "Bone marrow hypocellularity", + "skeletal element", + "subdivision of organism along appendicular axis", + "autopodial skeleton", + "limb endochondral element", + "bone marrow cell", + "system", "abnormal anatomical entity morphology in the pectoral complex", - "Thrombocytopenia", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "Abnormal external genitalia", - "Abnormal myeloid cell morphology", - "abnormal interatrial septum morphology", - "Abnormal ear physiology", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal postcranial axial skeleton morphology", - "abnormal diencephalon", - "abnormal incomplete closing of the interatrial septum", - "penis hypoplasia", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "decreased growth hormone secretion", - "abnormally fused manual digit and anatomical entity", - "Abnormality of head or neck", - "abnormality of anatomical entity physiology", - "abnormally fused manual digit and manual digit", - "anatomical entity atresia", - "abnormal cell", - "Abnormal testis morphology", - "abnormal reproductive process", - "abnormal multicellular organismal reproductive process", - "abnormal internal genitalia", - "abnormal gamete generation", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "decreased length of anatomical entity in independent continuant", - "changed biological_process rate in independent continuant", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "abnormal lung morphology", - "decreased length of forelimb zeugopod bone", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal male reproductive system physiology", - "decreased length of anatomical entity", - "abnormally decreased number of cell", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "abnormal growth hormone secretion", - "Abnormality of the vasculature", - "Absent thumb", - "abnormal ear", - "abnormal blood cell", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the multicellular organism", - "decreased sensory perception of sound", - "abnormality of middle ear physiology", - "Abnormality of limb bone", - "Abnormal small intestine morphology", - "Abnormal fetal morphology", - "abnormal intestine morphology", - "Abnormal cerebral morphology", - "abnormal blood vessel morphology", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal digit morphology", - "decreased qualitatively reproductive process", - "abnormal localization", - "Language impairment", - "Anemia", - "Abnormality of the hand", - "decreased size of the external ear", - "phenotype by ontology source", - "abnormal endocrine gland morphology", - "Microtia", - "Azoospermia", - "Aplasia/Hypoplasia of the ear", - "continuant", - "abnormal manus", - "aplasia or hypoplasia of ear", - "abnormal sensory perception", - "Abnormal fetal cardiovascular morphology", - "Cryptorchidism", - "abnormal artery morphology in the independent continuant", "abnormal digit morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "decreased size of the anatomical entity in the independent continuant", + "decreased length of digit", "aplasia or hypoplasia of manual digit 1", - "entity", - "abnormal testis morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "abnormal reproductive system morphology", - "changed biological_process rate in brain", - "abnormal blood cell morphology", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased multicellular organism mass", + "abnormal manus", + "Short finger", + "digit plus metapodial segment", + "central nervous system", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "Morphological central nervous system abnormality", + "Abnormality of the musculoskeletal system", + "abnormal anatomical entity morphology in the brain", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", "Aplasia/Hypoplasia involving the central nervous system", - "bone element hypoplasia in independent continuant", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal erythroid lineage cell morphology", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "decreased length of manual digit 1", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "Abnormal spermatogenesis", - "Abnormal morphology of the great vessels", - "decreased length of long bone", + "aplasia or hypoplasia of anatomical entity", + "organism subdivision", + "skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Abnormal skull morphology", + "regional part of nervous system", + "forebrain", + "skin of body", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "leukocyte", + "abnormal size of anatomical entity", + "abnormal forebrain morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "abnormal nervous system", + "Anal atresia", + "anatomical entity atresia", + "abnormal head morphology", + "manual digit", + "abnormal anus", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "Abnormality of the head", + "anatomical conduit", + "anatomical structure", + "decreased anatomical entity mass", + "craniocervical region", + "protein-DNA complex organization", + "Abnormal anus morphology", + "hematopoietic cell", + "regional part of brain", + "abnormal craniocervical region morphology", + "continuant", + "anus", + "multi-tissue structure", + "Abnormality of the immune system", + "abnormal developmental process", + "tube", + "DNA metabolic process", + "orifice", + "Abnormal leukocyte morphology", + "digestive system", + "paired limb/fin", + "abnormal manual digit morphology in the independent continuant", + "digestive tract", + "changed developmental process rate", + "lateral structure", + "abnormal digestive system", + "abnormal closing of the anatomical entity", + "abnormal skull morphology", + "brain", "abnormal anatomical entity morphology in the independent continuant", - "absent manual digit", - "abnormal phenotype by ontology source", - "alimentary part of gastrointestinal system atresia", - "Morphological abnormality of the gastrointestinal tract", - "abnormal gland morphology", - "abnormal immune system morphology", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Abnormality of the integument", - "absent germ cell", - "Abnormal response to endocrine stimulation test", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "musculoskeletal system", "Abnormality of bone marrow cell morphology", - "Short forearm", - "delayed biological_process", - "Pneumonia", - "Abnormal cardiac septum morphology", - "abnormal transport", - "Hypoplasia of the radius", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "abnormal skeletal system morphology", - "abnormal biological_process in central nervous system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "abnormal small intestine", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "abnormal penis", - "abnormality of ureter physiology", - "abnormal penis morphology", - "decreased length of manual digit", - "abnormal developmental process", - "abnormal hormone independent continuant level", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormality of reproductive system physiology", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "Abnormality of the endocrine system", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "All", - "increased qualitatively biological_process", - "decreased developmental process", - "abnormal response to stress", - "agenesis of anatomical entity", - "Skin dimple", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "abnormal ductus arteriosus morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal face morphology", - "abnormal myeloid cell morphology", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "aplastic anatomical entity", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limbs", - "Hypopituitarism", - "Delayed speech and language development", - "Hypoplasia of penis", - "Abnormality of limb bone morphology", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "absent gamete", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal limb", - "abnormally fused manual digit 2 and anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal ear morphology", - "anatomical entity hypoplasia", - "Abnormality of the ureter", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal digit", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormal cell morphology", + "phenotype", + "appendage", + "root", + "immune system", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "quality", + "phenotype by ontology source", "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal forearm bone morphology", + "biological_process", + "abnormal biological_process", + "decreased qualitatively growth", + "abnormal integument", + "abnormal digestive system morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "hematopoietic system", + "multicellular organism", + "increased pigmentation", + "increased pigmentation in independent continuant", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multicellular anatomical structure", + "cranial skeletal system", + "autopodial extension", + "abnormal pigmentation", + "anatomical system", + "abnormal phenotype by ontology source", + "Abnormality of skull size", + "pectoral complex", + "organ", + "occurrent", + "abnormal anatomical entity", + "integumental system", "abnormal pigmentation in independent continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", + "arm", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "Irregular hyperpigmentation", "abnormal skeletal system", - "abnormal external ear morphology", - "Microphthalmia", - "Fetal anomaly", + "integument", + "eukaryotic cell", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "radius bone hypoplasia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal axial skeleton morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "abnormal location of anatomical entity", - "Gastrointestinal atresia", + "decreased developmental process", + "axial skeletal system", + "nervous system", + "Abnormality of head or neck", + "Abnormal hand morphology", + "Localized skin lesion", + "material entity", "Macule", - "abnormal fused sacrum morphology", - "abnormal role bodily fluid level", - "aplasia or hypoplasia of external ear", - "abnormal integument", - "Sacrococcygeal pilonidal abnormality", - "intestine atresia", - "Abnormal endocrine physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal forelimb zeugopod bone", - "duodenum atresia", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal male reproductive system morphology", - "phenotype", - "abnormal placenta", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", - "Abnormality of the gastrointestinal tract", - "Aplasia/Hypoplasia of the radius", - "abnormal digestive system", - "decreased growth", - "increased qualitatively inflammatory response", - "Abnormal duodenum morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal coronary vessel morphology", - "Abnormal atrial septum morphology", - "abnormal heart morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal opening of the anatomical entity", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "Decreased anatomical entity mass", - "Neoplasm by anatomical site", - "Abnormality of the upper limb", - "Duodenal atresia", - "forelimb zeugopod bone hypoplasia", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormally decreased number of leukocyte", - "Abnormality of the ear", - "Abnormal pituitary gland morphology", - "Intestinal atresia", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "decreased size of the anatomical entity in the independent continuant", - "abnormal renal system morphology", - "abnormal reproductive system", - "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of chromosome stability", - "Limb undergrowth", - "abnormal upper urinary tract", - "Abnormality of the eye", - "abnormality of male reproductive system physiology", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal renal system", - "Ectopic kidney", - "Abnormality of the lower urinary tract", - "Abnormal localization of kidney", - "abnormal adenohypophysis", - "Growth abnormality", - "abnormal orbital region", - "Abnormality of the kidney", - "decreased biological_process in pituitary gland", - "abnormal eyeball of camera-type eye", - "Abnormality of the upper urinary tract", - "Pelvic kidney", - "abnormality of nervous system physiology", - "Abnormal cellular physiology", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "Hearing abnormality", + "abnormal size of multicellular organism", + "bone element", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Cafe-au-lait spot", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", "abnormal anatomical entity morphology in the manus", - "abnormal role blood level", - "Conductive hearing impairment", - "abnormal middle ear", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal vasculature", - "abnormal head morphology", - "decreased vibrational conductance of sound to the inner ear", + "Decreased anatomical entity mass", + "manual digitopodium region", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "Abnormality of the skin", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal bone marrow morphology", + "Hypermelanotic macule", + "abnormal skin of body morphology", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", "Abnormal forebrain morphology", - "Functional abnormality of the middle ear", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "anus atresia", + "Microcephaly", + "changed biological_process rate in independent continuant", + "All", + "increased qualitatively biological_process", + "anatomical collection", + "skeletal system", + "motile cell", + "organic cyclic compound metabolic process", + "multicellular organism development", + "segment of autopod", + "process", + "organ system subdivision", + "Abnormality of the anus", + "material anatomical entity", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "nucleate cell", + "Abnormal finger morphology", + "Decreased body weight", + "decreased qualitatively developmental process", + "postcranial axial skeleton", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "aplasia or hypoplasia of telencephalon", + "Short digit", + "Acute myeloid leukemia", + "abnormal cell morphology", + "abnormal nervous system morphology", + "telencephalon", + "Hyperpigmentation of the skin", + "digit", + "anterior region of body", + "entity", + "subdivision of skeletal system", + "Leukemia", + "appendicular skeleton", + "upper limb segment", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", "abnormal head", - "absent anatomical entity in the forelimb", - "abnormality of ear physiology", - "abnormal ear morphology", - "abnormal endocrine system", - "absent digit", - "Respiratory tract infection", + "subdivision of skeleton", + "endochondral bone", + "subdivision of organism along main body axis", + "main body axis", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa", + "abnormal size of skull", + "digit 1 plus metapodial segment", + "Decreased head circumference", + "abnormal telencephalon morphology", + "body proper", + "pectoral appendage", + "paired limb/fin segment", + "Opisthokonta", + "decreased length of manual digit", + "Eukaryota", + "Eumetazoa", + "manual digit plus metapodial segment", + "abnormal hematopoietic system", "Neoplasm", - "Abnormal intestine morphology", - "decreased qualitatively biological_process in independent continuant", - "abnormal endocrine system morphology", - "Abnormality of the respiratory system", + "manual digit 1 or 5", + "manual digit 1 plus metapodial segment", + "Abnormal cellular phenotype", + "decreased growth", + "disconnected anatomical group", + "bone cell", "Aplasia/Hypoplasia of the thumb", - "decreased secretion in pituitary gland", - "abnormal secretion in independent continuant", - "abnormal nervous system", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal forebrain morphology", - "abnormality of reproductive system physiology", - "Abnormal heart morphology", - "Abnormality of the bladder", - "abnormal multicellular organism chemical entity level", - "abnormal pituitary gland morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal cellular process", - "Abnormal communication", - "Abnormality of brain morphology", - "abnormal bone of pectoral complex morphology", - "decreased qualitatively biological_process in central nervous system", - "decreased secretion in independent continuant", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal endocrine morphology", - "decreased biological_process in brain", - "abnormal secretion by cell", - "abnormality of endocrine system physiology", - "Decreased response to growth hormone stimulation test", - "increased inflammatory response in lung", - "Abnormality of the diencephalon", - "abnormal behavior", - "abnormal independent continuant chemical entity level", - "Abnormality of metabolism/homeostasis", - "abnormal chemical entity level", - "abnormal inflammatory response", - "Abnormal circulating hormone concentration", - "abnormal hormone blood level", - "Abnormalities of placenta or umbilical cord", - "abnormal size of skull", - "Anterior hypopituitarism", - "decreased size of the penis", - "abnormal role independent continuant level", - "decreased size of the anatomical entity", - "Specific learning disability", - "abnormal biological_process in independent continuant", - "Abnormality of the anterior pituitary", - "quality", - "decreased biological_process in multicellular organism", - "abnormal diencephalon morphology", - "Abnormal growth hormone level", - "decreased qualitatively growth", - "abnormally decreased number of hematopoietic cell", - "Abnormal inflammatory response", - "abnormal neuroendocrine gland morphology", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "abnormal umbilical blood vessel morphology", - "decreased embryo development", - "abnormal biological_process", - "Growth delay", + "mesoderm-derived structure", + "non-connected functional system", "abnormal growth", - "abnormally fused anatomical entity and manual digit", + "independent continuant", "abnormal leukocyte morphology", - "increased biological_process", - "abnormal external ear", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "external ear hypoplasia", - "Abnormal eye morphology", - "abnormal gamete", - "Abnormality of the outer ear", - "abnormal great vessel of heart morphology", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal skin of body", - "Neurodevelopmental delay", - "Atypical behavior", - "abnormal closing of the anatomical entity", - "abnormal response to stimulus", - "Short long bone", - "abnormal skull morphology", - "Neurodevelopmental abnormality", - "Abnormality of speech or vocalization", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", + "Abnormal immune system morphology", + "organism", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", "abnormal immune system", - "Leukopenia", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Renal hypoplasia/aplasia", - "abnormal size of kidney", - "abnormal lower urinary tract", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of cell in the independent continuant", - "Decreased head circumference", - "abnormal telencephalon morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "abnormal urinary bladder", - "Abnormal skull morphology", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "increased pigmentation in independent continuant", - "Abnormality of the head", - "abnormal pigmentation", - "decreased size of the external male genitalia", - "Abnormal ureter physiology", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "Abnormality of skin pigmentation", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", + "abnormal bone marrow cell", + "Acute leukemia", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "hemolymphoid system", "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Hyperpigmentation of the skin", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "Abnormality of the orbital region", - "Abnormality of the face", - "increased inflammatory response in independent continuant", - "Abnormality of the middle ear", - "abnormality of urinary bladder physiology", - "Abnormality of immune system physiology", - "Abnormal lung morphology", - "Abnormality of prenatal development or birth", - "increased inflammatory response", - "increased qualitatively response to stimulus", - "abnormal autopod region morphology", - "increased qualitatively inflammatory response in independent continuant", - "Increased inflammatory response", - "abnormal primary metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal metabolic process", - "Abnormality of multiple cell lineages in the bone marrow", - "specifically dependent continuant", - "increased biological_process in lung", - "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal respiratory system morphology", - "abnormal organelle organization", - "abnormal nitrogen compound metabolic process", - "Functional abnormality of the bladder", + "pigmentation", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "abnormal arm", + "Abnormality of digestive system morphology", + "manus", + "abnormal limb", + "abnormal skeletal system morphology", + "protein-containing material entity", + "segment of manus", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "bone marrow", + "acropodium region", + "pectoral appendage skeleton", + "abnormal manus morphology", + "abnormal development of anatomical entity", + "cellular organisms", + "abnormal digit", + "Abnormal nervous system morphology", + "abnormal limb bone", + "increased biological_process in independent continuant", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal appendicular skeleton morphology", + "abnormal postcranial axial skeleton morphology", "abnormal anatomical entity length", - "Vesicoureteral reflux", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "Abnormal blood vessel morphology", - "abnormal systemic artery morphology", - "abnormal bone marrow cell morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "abnormal embryo development", - "Microphallus", - "abnormal vertebral column morphology", - "abnormal external male genitalia morphology", - "External genital hypoplasia", + "Abnormality of limbs", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "skull", + "decreased length of anatomical entity", + "abnormal forelimb morphology", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal limb morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "Hematological neoplasm", + "Abnormality of the hand", + "appendicular skeletal system", + "digit 1 or 5", + "limb skeleton subdivision", + "forelimb skeleton", + "cell", + "limb", + "Abnormality of the upper limb", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "head", + "Abnormality of limb bone", + "endochondral element", + "multi-limb segment region", + "Intrauterine growth retardation", + "changed embryo development rate", + "abnormal manual digit 1 morphology", + "Short thumb", + "abnormal limb bone morphology", ], - "has_phenotype_count": 34, + "has_phenotype_count": 11, "highlight": None, "score": None, }, { - "id": "MONDO:0013566", + "id": "MONDO:0010351", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group L", + "name": "Fanconi anemia complementation group B", "full_name": None, "deprecated": None, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", + "xref": ["DOID:0111098", "GARD:15257", "MESH:C564497", "NCIT:C125703", "OMIM:300514", "UMLS:C1845292"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCL", - "FANCL Fanconi anaemia", - "FANCL Fanconi anemia", - "Fanconi Anemia, complementation Group 50", - "Fanconi Anemia, complementation group type 50", - "Fanconi anaemia caused by mutation in FANCL", - "Fanconi anaemia complementation group type L", - "Fanconi anemia caused by mutation in FANCL", - "Fanconi anemia complementation group L", - "Fanconi anemia complementation group type L", - "Fanconi anemia, complementation group L", + "FA2", + "FACB", + "FANCB", + "Fanconi Anemia, complementation group type B", + "Fanconi anaemia complementation group type B", + "Fanconi anemia complementation group B", + "Fanconi anemia complementation group type B", + "Fanconi anemia, complementation group B", + "Fanconi anemia, complementation group B, X-linked recessive", + "Fanconi pancytopenia type 2", + "Fanconi pancytopenia, type 2", ], "uri": None, "iri": None, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", - "HP:0000582", - "HP:0008551", "HP:0000470", "HP:0009777", - "HP:0004590", "HP:0002575", + "HP:0001249", + "HP:0007766", "HP:0000238", "HP:0000369", - "HP:0000465", - "HP:0000957", - "HP:0002023", - "HP:0000316", + "HP:0002101", "HP:0001510", - "HP:0001776", - "HP:0000347", - "HP:0003974", - "HP:0001511", - "HP:0009892", - "HP:0000151", - "HP:0001263", - "HP:0003221", + "HP:0000815", + "HP:0002247", + "HP:0002119", + "HP:0000104", + "HP:0001873", + "HP:0001915", + "HP:0001680", "HP:0002032", - "HP:0011968", + "HP:0003220", "HP:0001321", - "HP:0000175", + "HP:0002079", "HP:0000054", - "HP:0000437", - "HP:0001903", - "HP:0000122", + "HP:0000396", + "HP:0003468", + "HP:0000135", + "HP:0004977", + "HP:0001643", + "HP:0001629", + "HP:0001195", "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089", + "HP:0001511", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", - "Microtia", "Short neck", "Absent thumb", - "Hypoplastic sacrum", "Tracheoesophageal fistula", + "Intellectual disability", + "Optic disc hypoplasia", "Hydrocephalus", "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", + "Abnormal lung lobation", "Growth delay", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", + "Hypergonadotropic hypogonadism", + "Duodenal atresia", + "Ventriculomegaly", + "Renal agenesis", + "Thrombocytopenia", + "Aplastic anemia", + "Coarctation of aorta", "Esophageal atresia", - "Feeding difficulties", + "Abnormality of chromosome stability", "Cerebellar hypoplasia", - "Cleft palate", + "Hypoplasia of the corpus callosum", "Micropenis", - "Depressed nasal tip", - "Anemia", - "Unilateral renal agenesis", + "Overfolded helix", + "Abnormal vertebral morphology", + "Hypogonadism", + "Bilateral radial aplasia", + "Patent ductus arteriosus", + "Ventricular septal defect", + "Single umbilical artery", "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia", + "Intrauterine growth retardation", ], "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0087355", - "UPHENO:0085195", - "UPHENO:0002948", - "UPHENO:0087278", - "HP:0000422", - "HP:0000431", - "UPHENO:0081800", - "HP:0000568", - "HP:0008056", - "UPHENO:0075219", - "UPHENO:0069523", - "UPHENO:0000552", - "UPHENO:0050372", - "HP:0012447", - "UPHENO:0050406", - "HP:0002715", - "HP:0002188", - "UPHENO:0062527", - "HP:0012448", - "UPHENO:0084007", - "UPHENO:0008593", - "HP:0000079", - "HP:0012210", - "HP:0010935", - "HP:0012130", - "UPHENO:0084928", - "HP:0001871", - "HP:0001877", - "HP:0001903", - "UPHENO:0041458", - "HP:0000366", - "HP:0000436", - "UPHENO:0088168", - "UPHENO:0082467", - "UPHENO:0002597", - "HP:0000054", - "HP:0003241", - "HP:0008736", - "UPHENO:0000553", - "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "HP:5201015", - "HP:0000202", - "HP:0000174", - "UPHENO:0006147", - "UPHENO:0087585", - "UPHENO:0033572", - "UPHENO:0080089", - "HP:0001321", - "UPHENO:0068984", - "UPHENO:0087548", - "UPHENO:0033635", - "HP:0002977", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0081099", - "HP:0011458", - "HP:0011968", - "HP:0000811", - "HP:0025032", - "UPHENO:0063639", - "HP:0002589", - "UPHENO:0063603", - "HP:0003221", - "HP:0000078", - "UPHENO:0003055", - "HP:0010460", - "HP:0000151", - "UPHENO:0002598", - "UPHENO:0087974", - "UPHENO:0020950", - "UPHENO:0009305", - "UPHENO:0087339", - "UPHENO:0026954", - "UPHENO:0026984", - "UPHENO:0025708", - "HP:0008678", - "UPHENO:0052178", - "HP:0012145", + "GO:0009790", "UPHENO:0080393", - "UPHENO:0075902", - "UPHENO:0081436", - "UPHENO:0085144", - "HP:0000309", - "UPHENO:0050108", "UPHENO:0005642", "UPHENO:0080382", + "UPHENO:0005433", + "UPHENO:0052178", "UPHENO:0052778", - "HP:0000437", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", - "UPHENO:0076718", - "HP:0002973", - "UPHENO:0025211", - "HP:0012758", - "UPHENO:0009399", - "HP:0040072", - "HP:0040070", - "UPHENO:0080187", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0020013", - "HP:0006503", - "HP:0009825", - "UPHENO:0081511", - "UPHENO:0050034", - "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0075182", - "UPHENO:0082454", - "UPHENO:0081566", - "UPHENO:0083646", - "HP:0009118", - "HP:0011821", - "HP:0000277", - "UPHENO:0080158", - "UPHENO:0081786", - "HP:0010461", - "UPHENO:0003053", - "HP:0000929", - "HP:0031816", - "UPHENO:0081314", - "UPHENO:0076800", - "UPHENO:0087123", - "UPHENO:0081788", - "UPHENO:0080087", - "UPHENO:0086932", - "UPHENO:0088116", - "UPHENO:0002443", - "UPHENO:0069249", - "UPHENO:0081575", - "HP:0001762", - "HP:0020047", - "HP:0005656", - "UPHENO:0041203", - "HP:0002814", - "HP:0001776", - "UPHENO:0003070", - "UPHENO:0086628", - "UPHENO:0049874", - "HP:0001510", - "HP:0001507", - "HP:0100886", - "UPHENO:0002595", - "UPHENO:0021474", - "HP:0000478", - "UPHENO:0065599", - "UPHENO:0026628", - "HP:0012372", - "UPHENO:0001072", - "UPHENO:0081141", - "UPHENO:0003020", - "UPHENO:0075655", - "HP:0009116", - "HP:0000316", - "HP:0009892", - "UPHENO:0074228", - "UPHENO:0086644", - "UPHENO:0062515", - "HP:0004378", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "UPHENO:0081320", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0000122", - "UPHENO:0002839", - "HP:0034915", - "HP:0011297", - "UPHENO:0087472", - "HP:0000369", - "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0082356", - "UPHENO:0084761", - "HP:0011121", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - 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"HP:0009380", - "HP:0002086", - "UPHENO:0060026", - "HP:0007360", - "UPHENO:0076766", - "UPHENO:0076702", - "HP:0012443", - "UPHENO:0006161", + "HP:0000587", + "UPHENO:0081790", + "HP:0000479", + "HP:0002715", + "UPHENO:0075949", + "UBERON:0000941", + "HP:0012145", + "GO:0048646", + "UPHENO:0087907", + "UPHENO:0002910", + "HP:0001098", + "HP:0000234", + "UBERON:0005388", + "HP:0000271", + "HP:0008058", + "UBERON:0002090", + "HP:0002247", + "HP:0006503", + "UBERON:0002104", + "HP:0012759", "HP:0002118", - "UPHENO:0087430", - "UPHENO:0056333", - "HP:0001511", - "UPHENO:0000543", - "UPHENO:0081784", - "HP:0009823", - "HP:0000957", - "HP:0001034", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", - "HP:0002692", + "UBERON:0000047", + "UBERON:0004451", + "UBERON:0000170", + "UPHENO:0076805", + "UPHENO:0009399", + "HP:0025461", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0002473", + "HP:0012795", + "UPHENO:0056212", + "UPHENO:0021656", + "UBERON:0000073", + "GO:0050890", + "UPHENO:0087614", + "HP:0001629", + "UBERON:0034923", + "NCBITaxon:1", + "UBERON:0000063", + "UPHENO:0021803", + "UPHENO:0076776", + "NCBITaxon:6072", + "UBERON:0005281", + "UPHENO:0014240", + "HP:0000356", + "UPHENO:0005597", + "UBERON:0005282", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "GO:0048856", + "UBERON:0001359", + "UPHENO:0088185", + "UPHENO:0076779", + "UPHENO:0020950", + "UPHENO:0085344", + "HP:0002818", + "HP:0002813", + "HP:0002921", + "CL:0000738", + "UBERON:0000160", + "UBERON:0006314", + "UBERON:0002544", + "UBERON:0007779", + "HP:0000598", "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0008523", - "UPHENO:0050008", - "UPHENO:0025875", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739", - ], - "has_phenotype_closure_label": [ - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the immune system", - "abnormal immune system", - "abnormal bone marrow cell morphology", - "increased width of the anatomical entity in independent continuant", - "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal myelination", - "delayed central nervous system myelination", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "absent kidney", - "abnormal renal system", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "abnormal renal system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal bone marrow cell", - "Anemia", - "Abnormal myeloid cell morphology", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "abnormal external nose morphology", - "abnormal myelination", - "abnormal erythrocyte morphology", - "Depressed nasal tip", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "Abnormality of male external genitalia", - "abnormal external male genitalia", - "abnormal male reproductive organ morphology", - "decreased size of the penis", - "abnormal male reproductive system", - "penis hypoplasia", - "Abnormality of globe size", - "Abnormal penis morphology", - "Abnormal external genitalia", - "Micropenis", - "abnormal male reproductive system morphology", - "abnormal external male genitalia morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "External genital hypoplasia", - "Abnormal palate morphology", - "abnormal midface morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal incomplete closing of the secondary palate", - "Craniofacial cleft", - "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Abnormal hindbrain morphology", - "Aplasia/Hypoplasia of the cerebellum", - "abnormal anatomical entity morphology in the brain", - "Abnormal cerebellum morphology", - "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "Wide nasal bridge", - "Abdominal symptom", - "alimentary part of gastrointestinal system atresia", - "Neurodevelopmental abnormality", - "Neurodevelopmental delay", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Abnormality of the genital system", - "abnormal female reproductive organ morphology", - "abnormal internal female genitalia morphology", - "Aplasia of the uterus", - "Abnormality of the genitourinary system", - "Abnormal morphology of female internal genitalia", - "abnormal female reproductive system", - "Aplasia/hypoplasia of the uterus", - "absent anatomical entity in the reproductive system", - "abnormal female reproductive system morphology", - "absent uterus", - "absent external ear in the independent continuant", - "Anotia", + "UPHENO:0086932", + "UPHENO:0086699", + "UPHENO:0082129", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0049367", + "HP:0000369", + "UBERON:0002105", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0041226", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0088020", + "GO:0030323", + "UPHENO:0063722", + "UBERON:0019294", + "UPHENO:0076791", + "UPHENO:0075183", + "GO:0030324", + "GO:0060541", + "UBERON:0000171", + "UPHENO:0019970", + "HP:0000924", + "UBERON:0004121", + "GO:0007275", + "UPHENO:0004459", + "UPHENO:0003116", + "GO:0009653", + "HP:0010438", + "GO:0048513", + "GO:0035295", + "UBERON:0004151", + "UPHENO:0087548", + "UBERON:0000061", + "UPHENO:0056333", + "UPHENO:0025211", + "UPHENO:0086049", + "GO:0060462", + "HP:0002101", + "UPHENO:0087018", + "UPHENO:0078603", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "HP:4000059", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "HP:0002244", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UPHENO:0066927", + "UBERON:0000990", + "HP:0009380", + "UPHENO:0074228", + "UPHENO:0002595", + "UBERON:0004122", + "HP:0003241", + "HP:0010935", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "UBERON:0003466", + "UBERON:0000949", + "UBERON:0003834", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "UPHENO:0066972", + "UPHENO:0018426", + "HP:0000078", + "UPHENO:0063639", + "UBERON:0011143", + "UPHENO:0081594", + "HP:0002589", + "UPHENO:0085195", + "UBERON:0034713", + "UPHENO:0063629", + "UPHENO:0076783", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0085070", + "UBERON:0002114", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0001440", + "GO:0030154", + "UBERON:0002113", + "UPHENO:0085118", + "UPHENO:0015280", + "UPHENO:0075902", + "HP:0001881", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0026980", + "UPHENO:0008593", + "UPHENO:0083952", + "UBERON:8450002", + "UPHENO:0002934", + "UPHENO:0002803", + "UBERON:0005172", + "UBERON:0001981", + "UPHENO:0082875", + "HP:0000104", + "UBERON:0000055", + "UBERON:0000489", + "UPHENO:0081320", + "UBERON:0001008", + "UBERON:0001637", + "UBERON:0002037", + "UPHENO:0077426", + "HP:0020047", + "UPHENO:0085371", + "UBERON:0000079", + "UBERON:0005970", + "HP:0001871", + "UBERON:0015410", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0001873", + "UBERON:0001018", + "CL:0000458", + "UPHENO:0086854", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "UBERON:0004537", + "UBERON:0000064", + "CL:0000081", + "UBERON:0003951", + "CL:0000763", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0085302", + "UPHENO:0084928", + "UBERON:0003037", + "CL:0000151", + "UBERON:0002413", + "CL:0000988", + "UPHENO:0087339", + "UPHENO:0087089", + "CL:0000764", + "HP:0010987", + "HP:0005561", + "HP:0011893", + ], + "has_phenotype_closure_label": [ + "abnormal embryo development", + "Intrauterine growth retardation", "decreased developmental process", - "abnormal developmental process", + "changed embryo development rate", + "decreased qualitatively developmental process", + "changed biological_process rate", + "delayed central nervous system myelination", + "Abnormal CNS myelination", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "ensheathment of neurons", + "cellular developmental process", + "Delayed CNS myelination", + "glial cell differentiation", + "neurogenesis", + "abnormal central nervous system myelination in independent continuant", + "Delayed myelination", + "abnormal biological_process in nervous system", + "Abnormal fetal cardiovascular morphology", + "Fetal anomaly", "decreased embryo development", - "aplasia or hypoplasia of cerebellum", - "changed developmental process rate", - "Abnormal upper limb bone morphology", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "abnormal long bone morphology", - "abnormal limb long bone morphology", + "abnormal umbilical blood vessel morphology", + "extraembryonic structure", + "Abnormality of the umbilical cord", + "entire extraembryonic component", + "abnormal late embryo", + "Abnormality of prenatal development or birth", + "interventricular septum", + "abnormal cardiac ventricle morphology in the independent continuant", + "Abnormal cardiac ventricle morphology", + "abnormal interventricular septum morphology", + "abnormal incomplete closing of the interventricular septum", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "systemic artery", + "vasculature of organ", + "abnormal artery morphology in the independent continuant", + "heart vasculature", + "trunk blood vessel", + "conceptus", + "circulatory organ", + "abnormal systemic artery morphology", + "vasculature of trunk", + "heart plus pericardium", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "thoracic segment blood vessel", + "artery", + "abnormal anatomical entity morphology in the heart", + "Congenital malformation of the great arteries", + "Abnormalities of placenta or umbilical cord", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", "Abnormal morphology of the radius", + "radius endochondral element", + "limb long bone", "absent radius bone in the forelimb", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal forelimb zeugopod morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "aplastic forelimb zeugopod bone", + "abnormal forelimb zeugopod bone", "Aplasia/Hypoplasia of the radius", - "Absent radius", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", - "shape nose tip", - "anatomical entity hypoplasia in face", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "bone element hypoplasia in face", + "embryo development", + "abnormal cardiac ventricle morphology in the heart", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "Abnormal vertebral morphology", + "Abnormally folded helix", + "surface feature shape anatomical entity", + "pinna", + "Abnormal helix morphology", + "abnormal helix of outer ear morphology", + "folded anatomical entity", + "folded anatomical entity in independent continuant", + "decreased size of the external male genitalia", + "abnormal male reproductive system", + "Abnormal external genitalia", + "intromittent organ", + "external male genitalia", + "male reproductive system", + "abnormal penis morphology", + "Abnormality of male external genitalia", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "abnormal penis", + "External genital hypoplasia", + "abnormal reproductive system morphology", + "Abnormal penis morphology", + "abnormal male reproductive system morphology", + "decreased size of the penis", + "Abnormal cerebral subcortex morphology", + "Cerebral white matter hypoplasia", + "nervous system development", + "Thin corpus callosum", + "white matter", + "telencephalon", + "abnormal cerebral hemisphere white matter morphology", + "aplasia or hypoplasia of telencephalon", + "Hypoplasia of the corpus callosum", + "cerebral subcortex", + "Abnormal ventricular septum morphology", + "Abnormal cerebral white matter morphology", + "Abnormal cerebral morphology", + "folded helix of outer ear", + "forebrain", + "white matter of forebrain", + "brain commissure", + "abnormal cerebral hemisphere morphology", + "white matter of telencephalon", + "corpus callosum", + "decreased size of the corpus callosum", + "abnormal forebrain morphology", + "cellular process", + "cerebral hemisphere white matter", + "intercerebral commissure", + "nervous system commissure", + "abnormal size of corpus callosum", + "corpus callosum hypoplasia", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal embryo development", - "abnormal mouth morphology", - "abnormal jaw skeleton morphology", - "abnormal head bone morphology", - "abnormal facial skeleton morphology", - "abnormal genitourinary system", - "Abnormal foot morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "Growth delay", - "increased anatomical entity length in independent continuant", - "absent external ear", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "abnormal nasal bridge morphology", - "Hypertelorism", - "abnormal upper urinary tract", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormality of the eye", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", + "segmental subdivision of nervous system", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "Abnormality of metabolism/homeostasis", + "metabolic process", + "abnormal vertebra morphology", "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal immune system morphology", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "abnormal digit morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal neck morphology", - "Aplasia/Hypoplasia of the ear", - "abnormal forelimb morphology", - "Abnormality of the musculoskeletal system", - "Cafe-au-lait spot", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of manual digit 1", - "abnormal vertebral column", - "fused sacrum hypoplasia", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "decreased size of the anatomical entity", - "Abnormal midface morphology", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "aplasia or hypoplasia of ear", - "Microphthalmia", - "Abnormal neck morphology", - "abnormal skeletal system", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "Abnormality of the ear", - "changed embryo development rate", - "Intrauterine growth retardation", - "abnormal manual digit 1 morphology", - "abnormal fused sacrum morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "abnormal manual digit morphology in the independent continuant", - "decreased size of the kidney", + "esophagus atresia", + "Bilateral radial aplasia", + "abnormal metencephalon morphology", + "abnormal cardiovascular system morphology", + "abnormal aorta morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic cavity blood vessel", + "helix of outer ear", + "arterial blood vessel", + "Abnormality of the cardiovascular system", + "aortic system", + "Abnormality of cardiovascular system morphology", + "Abnormal aortic morphology", + "aorta", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "abnormal great vessel of heart morphology", + "cardiovascular system", + "Coarctation of aorta", + "blood vasculature", + "arterial system", + "outflow tract", + "blood vessel", + "Abnormal morphology of the great vessels", + "immune system", + "oxygen accumulating cell", + "bone cell", + "nucleate cell", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal face", + "Abnormality of mental function", + "abnormality of nervous system physiology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "nervous system process", + "system process", + "biological_process", + "Abnormal optic nerve morphology", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "bone marrow", + "Intellectual disability", + "proximo-distal subdivision of respiratory tract", + "anatomical structure morphogenesis", + "Abnormality of the digestive system", + "Abnormality of the respiratory system", + "Abnormal esophagus morphology", + "Abnormal tracheobronchial morphology", + "thoracic segment of trunk", + "abnormal digit", + "subdivision of digestive tract", + "delayed biological_process", + "respiratory airway", + "pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal esophagus morphology", + "thoracic cavity element", + "Abnormal systemic arterial morphology", + "hematopoietic system", + "Single umbilical artery", + "developing anatomical structure", + "Abnormal location of ears", + "abnormal nervous system", + "Abnormality of the vertebral column", + "retina", + "trunk region element", + "endoderm-derived structure", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "cell development", + "skeleton of manus", + "abnormal tracheobronchial tree morphology", + "abnormal manus morphology", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "umbilical cord", + "autopodial skeleton", + "penis hypoplasia", + "limb endochondral element", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "lung lobe formation", + "abnormal digit morphology", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "absent anatomical entity", + "abnormal coronary vessel morphology", + "tracheobronchial tree", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "cognition", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "tube", + "brain white matter", + "abnormal developmental process", + "appendage", + "root", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "agenesis of anatomical entity", + "multi-limb segment region", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "axon ensheathment in central nervous system", + "compound organ", + "eye", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "digit", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "Low-set ears", + "abnormal ear", + "aplastic anatomical entity", + "anterior region of body", + "Aplasia/hypoplasia involving bones of the hand", + "decreased size of the optic disc", + "absent anatomical entity in the renal system", + "cell", + "genitourinary system", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "upper limb segment", + "limb skeleton subdivision", + "digestive tract", + "vessel", + "lateral structure", + "arm", + "abnormal head morphology", + "manual digit", "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", + "cell differentiation", + "appendicular skeletal system", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "vertebral element", + "viscus", + "abnormal respiratory system morphology", "Aplasia/hypoplasia of the extremities", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Abnormality of mental function", - "abnormal chromatin organization", - "Chromosome breakage", - "kidney hypoplasia", - "Finger aplasia", - "abnormal reproductive system morphology", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "radius bone", + "Abnormality of the hand", + "Abnormal vascular morphology", + "abnormal arm", "Phenotypic abnormality", - "quality", - "abnormal nitrogen compound metabolic process", - "abnormal hindbrain morphology", + "abnormal anatomical entity morphology in the retina", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "reproductive organ", + "abnormal anatomical entity morphology in the manus", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "Abnormality of head or neck", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "anatomical collection", + "endochondral bone", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal neck morphology", + "abnormal manual digit morphology in the manus", + "postcranial axial skeleton", + "abnormal external ear morphology", + "Abnormal finger morphology", + "cervical vertebra endochondral element", + "decreased length of neck", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormal vertebral column", + "entity", + "abnormal anatomical entity morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal external genitalia", + "Abnormal renal morphology", + "vertebral column", + "absent anatomical entity in the multicellular organism", + "long bone", + "material entity", + "Abnormal appendicular skeleton morphology", + "thoracic segment organ", + "musculoskeletal system", + "Abnormality of the eye", + "axon tract", + "abnormal upper urinary tract", + "Abnormality of the gastrointestinal tract", "absent digit", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", + "glial cell development", + "Abnormal hindbrain morphology", "phenotype", - "absent external ear in the head", - "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal snout morphology", - "abnormal face", - "abnormal metabolic process", - "Abnormal forearm morphology", - "decreased size of the mandible", + "Abnormal cell morphology", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "cardiac ventricle", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "Abnormal ear morphology", + "abnormal digestive system", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "material anatomical entity", + "skeleton of limb", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "embryonic cardiovascular system", + "organism subdivision", + "Aplasia/hypoplasia involving the skeleton", + "optic disc hypoplasia", + "decreased qualitatively biological_process", + "anatomical entity", "abnormal anatomical entity", - "Abnormality of the outer ear", - "continuant", + "skeletal system", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "cervical vertebra", + "penis", + "digestive system element", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "abnormal craniocervical region morphology", - "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", - "abnormal integument", - "Morphological central nervous system abnormality", - "abnormal behavior process", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "abnormal neck", - "Atypical behavior", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "continuant", + "absent radius bone in the independent continuant", + "systemic arterial system", + "neck bone", + "entire sense organ system", + "absent anatomical entity in the limb", + "abnormal blood vessel morphology", + "lung", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "abnormal limb morphology", + "anatomical conduit", + "heart", "Abnormality of the head", - "abnormal anus", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal organelle organization", - "Abnormal CNS myelination", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "craniocervical region", "abnormal development of anatomical entity", - "abnormal digit", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal cellular process", - "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Slanting of the palpebral fissure", - "increased width of nasal bridge", - "Abnormal tracheobronchial morphology", - "abnormal biological_process", - "aplasia or hypoplasia of external ear", - "abnormal cell", - "abnormal limb morphology", - "abnormal reproductive system", - "Abnormality of head or neck", - "entity", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "abnormal behavior", - "Abnormality of digestive system morphology", - "abnormal limb", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", "Abnormal thumb morphology", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "delayed biological_process in central nervous system", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Abnormality of the orbital region", - "absent anatomical entity in the multicellular organism", - "decreased size of the eyeball of camera-type eye", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "subdivision of trunk", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "subdivision of vertebral column", + "absent manual digit", + "abnormal trachea morphology", + "male organism", + "abnormal appendicular skeleton morphology", + "bone element", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the optic nerve", + "abnormal cellular process", + "secretory cell", + "autopodial extension", + "manual digit 1", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Cognitive impairment", + "abnormal central nervous system myelination", + "organ subunit", + "obsolete cell", + "digestive system", + "skeleton", + "abnormal artery morphology", + "Abnormal forearm morphology", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "quality", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "embryo", + "abnormal blood cell", + "erythrocyte", + "Abnormal tracheal morphology", + "abnormal respiratory tube morphology", + "dorsum", + "digit plus metapodial segment", + "Fetal ultrasound soft marker", + "abnormal neck", + "abnormal brain ventricle morphology", + "endochondral element", + "bone of dorsum", + "Abnormality of the neck", + "limb bone", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "limb", + "increased size of the anatomical entity", "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "flat anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "abnormal cervical vertebra", + "Abnormal retinal morphology", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "shape helix of outer ear", + "abnormal digestive system morphology", + "abnormal forelimb morphology", "aplastic manual digit 1", - "Abnormal finger morphology", + "abnormal cervical vertebra", + "Abnormal fetal morphology", + "commissure of telencephalon", + "abnormal intestine morphology", + "independent continuant", + "abnormal leukocyte morphology", + "multicellular organism development", + "reproductive system", + "main body axis", + "abnormal kidney morphology", + "neck", "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "abnormal respiratory system", - "Abnormality of limb bone", - "flat anatomical entity in independent continuant", + "delayed biological_process in independent continuant", + "digitopodium region", + "subdivision of tube", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", + "Morphological abnormality of the gastrointestinal tract", "absent anatomical entity in the forelimb", - "abnormal arm", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "Delayed CNS myelination", - "Hyperactivity", + "multicellular anatomical structure", + "skeletal element", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal limb", + "manus", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", + "tube development", + "acropodium region", + "subdivision of organism along main body axis", + "small intestine", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "dorsal region element", + "body proper", + "respiratory system", + "pectoral appendage", + "abnormal hematopoietic system morphology", + "system development", + "multicellular organismal process", + "organ part", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "Abnormality of limb bone morphology", + "paired limb/fin", + "abnormal optic disc morphology", + "Hypoplasia of penis", + "animal organ development", + "Abnormality of limbs", + "trunk or cervical vertebra", + "Renal hypoplasia/aplasia", + "mesoderm-derived structure", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "Abnormal corpus callosum morphology", + "irregular bone", + "organism", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "abnormal cranial nerve II morphology", + "vestibulo-auditory system", + "hematopoietic cell", + "cranial neuron projection bundle", + "abnormal vascular system morphology", + "photoreceptor array", + "Aplastic anemia", + "sensory system", + "abnormal growth", + "abnormal ocular fundus morphology", + "gonad", + "abnormal reproductive system", + "abnormal kidney", + "abnormal retina morphology", + "great vessel of heart", + "abnormal myeloid cell morphology", + "camera-type eye", + "chorioretinal region", + "abnormal immune system", + "Abnormal umbilical cord blood vessel morphology", + "Eukaryota", + "Eumetazoa", + "surface feature shape anatomical entity in independent continuant", + "Abnormal optic disc morphology", + "abnormal face morphology", + "anatomical entity hypoplasia in face", + "ear", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "aplasia or hypoplasia of cranial nerve II", + "non-connected functional system", + "neuron projection bundle", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "cardiac chamber", "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal trachea morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", - "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal mouth", - "Abnormal ear morphology", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormal manus morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "abnormal limb bone morphology", - "Cerebellar hypoplasia", - "Abnormal metencephalon morphology", - "Aplasia/Hypoplasia of the sacrum", - "Abnormal sacrum morphology", - "Abnormality of the neck", - "abnormal vertebral column morphology", - "Abnormal external nose morphology", - "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", + "face", + "axial skeletal system", + "Growth abnormality", + "abnormal size of optic disc", + "regional part of brain", + "Abnormal posterior eye segment morphology", + "Abnormality of the genital system", + "cervical region", + "Optic disc hypoplasia", + "central nervous system myelination", + "abnormal posterior segment of eyeball morphology", + "forelimb bone", + "anatomical entity hypoplasia", + "simple eye", + "trachea", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Aplasia/Hypoplasia affecting the fundus", + "lung morphogenesis", + "Abnormal platelet count", + "Abnormality of the orbital region", + "Hypergonadotropic hypogonadism", + "respiratory system development", + "Ventricular septal defect", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "ectoderm-derived structure", + "multi cell part structure", + "optic disc", + "Abnormality of limb bone", + "central nervous system", + "All", + "posterior segment of eyeball", + "cerebrospinal fluid", + "central nervous system cell part cluster", + "Abnormality of the face", + "abnormal nervous system morphology", + "cranial nerve II", + "central nervous system development", + "esophagus", + "hemolymphoid system", + "orbital region", + "Abnormality of the ear", "Tracheoesophageal fistula", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal camera-type eye morphology", + "Pancytopenia", + "abnormal head", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Puberty and gonadal disorders", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "myelination", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", "abnormally increased number of anatomical entity", - "abnormal respiratory system morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "Abnormal esophagus morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "Abnormal tracheal morphology", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", - "abnormal tracheobronchial tree morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Delayed myelination", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Abnormal cellular immune system morphology", + "abnormal cardiac septum morphology", + "organism substance", + "multi-tissue structure", + "bodily fluid", + "abnormal brain white matter morphology", + "Abnormality of the outer ear", + "ventricular system of central nervous system", + "abnormal brain ventricle/choroid plexus morphology", + "Hydrocephalus", + "ventricle of nervous system", + "increased size of the anatomical entity in independent continuant", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "eyeball of camera-type eye", + "brain ventricle", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "abnormal anatomical entity topology in independent continuant", + "abnormal external ear", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "cellular organisms", + "Abnormal lung morphology", + "Decreased anatomical entity position", + "abnormal ear morphology", + "abnormal location of external ear", + "abnormal telencephalon morphology", + "external ear", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "lower respiratory tract", + "abnormal bone marrow morphology", + "Patent ductus arteriosus", + "dorsal part of neck", + "Abnormal pinna morphology", + "Decreased external ear position", + "platelet", + "abnormal location of ear", + "Abnormal lung development", + "manual digit 1 or 5", + "developmental process", + "abnormal lung lobe formation", + "abnormal lung morphology", + "respiratory tube development", + "Aplasia/hypoplasia involving forearm bones", + "lung development", + "tract of brain", + "abnormally decreased functionality of the gonad", + "zeugopod", + "pair of lungs", + "Abnormal lung lobation", + "Hypoplastic male external genitalia", + "anatomical structure development", + "anatomical structure formation involved in morphogenesis", + "lung lobe development", + "segment of autopod", + "respiration organ", + "delayed growth", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "glandular system", + "blood cell", + "Abnormality of the genitourinary system", + "hindbrain", + "animal organ morphogenesis", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "reproductive structure", + "Abnormal myelination", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "changed developmental process rate", + "dorsal telencephalic commissure", + "abnormal brain commissure morphology", + "abnormal vasculature", + "abnormal genitourinary system", + "Abnormality of reproductive system physiology", + "abnormal small intestine", + "Abnormal duodenum morphology", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Duodenal atresia", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "aplasia or hypoplasia of corpus callosum", + "abnormal closing of the anatomical entity", + "arm bone", + "Intestinal atresia", + "ocular fundus", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "vasculature", + "duodenum atresia", + "Abnormal small intestine morphology", + "intestine atresia", + "duodenum", + "intestine", + "Abnormality of the male genitalia", + "manual digitopodium region", + "cervical region of vertebral column", + "Abnormal respiratory system morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "increased size of the brain ventricle", + "septum", + "paired limb/fin segment", + "Ventriculomegaly", + "subdivision of skeletal system", + "absent kidney in the independent continuant", + "abnormal dorsal telencephalic commissure morphology", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "Growth delay", + "kidney", + "abnormal renal system", + "abnormal respiratory system", + "Renal agenesis", + "abnormal hematopoietic system", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "excretory system", + "Abnormality of the upper urinary tract", + "manual digit 1 plus metapodial segment", + "abdomen", + "lung lobe morphogenesis", + "abdominal segment of trunk", + "abdominal segment element", + "absent kidney", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "digit 1", + "abnormal platelet morphology", + "multicellular organism", + "Thrombocytopenia", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "Abnormal cellular phenotype", + "myeloid cell", + "Overfolded helix", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "abnormal hematopoietic cell morphology", "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal ocular adnexa", - "abnormal location of ear", - "Decreased external ear position", - "abnormal anatomical entity topology in independent continuant", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Abnormal location of ears", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Abnormality of the gastrointestinal tract", - "Webbed neck", - "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", + "abnormal number of anatomical enitites of type platelet", + "cardiac septum", + "anucleate cell", + "leukocyte", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal fundus morphology", "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "Abnormality of the anus", + "cavitated compound organ", + "Abnormal leukocyte count", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", ], - "has_phenotype_count": 36, + "has_phenotype_count": 30, "highlight": None, "score": None, }, { - "id": "MONDO:0014638", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", + "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 UBE2T gene.", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], "provided_by": "phenio_nodes", "in_taxon": None, "in_taxon_label": None, "symbol": None, "synonym": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T 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:0004808", + "HP:0002984", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", "HP:0001876", - "HP:0001873", + "HP:0000347", "HP:0009778", - "HP:0005528", - "HP:0009942", + "HP:0000414", "HP:0001903", + "HP:0012745", + "HP:0000085", "HP:0003221", "HP:0004322", "HP:0000365", - "HP:0010628", + "HP:0000028", + "HP:0000125", + "HP:0001045", ], "has_phenotype_label": [ - "Acute myeloid leukemia", + "Hypoplasia of the radius", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", "Pancytopenia", - "Thrombocytopenia", + "Micrognathia", "Short thumb", - "Bone marrow hypocellularity", - "Duplication of thumb phalanx", + "Bulbous nose", "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", "Chromosomal breakage induced by crosslinking agents", "Short stature", "Hearing impairment", - "Facial palsy", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", ], "has_phenotype_closure": [ - "HP:0012638", - "UPHENO:0002433", - "HP:0010827", - "HP:0000271", - "UPHENO:0076772", - "UPHENO:0078730", - "HP:0011804", - "HP:0010628", - "UPHENO:0004508", - "HP:0000301", - "UPHENO:0003587", - "UPHENO:0076722", - "UPHENO:0081709", - "UPHENO:0087907", - "UPHENO:0080556", - "HP:0410008", - "HP:0000759", - "UPHENO:0076702", - "HP:0003011", - "HP:0000364", - "UPHENO:0002903", - "UPHENO:0052178", - "HP:0012639", - "UPHENO:0050625", - "HP:0000152", - "UPHENO:0052970", - "UPHENO:0002764", - "UPHENO:0080377", + "HP:0000086", + "CL:0000039", + "CL:0000413", + "UBERON:0001968", + "HP:0000078", + "HP:0000035", + "UPHENO:0005016", + "UBERON:0000463", + "UPHENO:0078729", + "HP:0000032", + 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"UPHENO:0002832", "HP:0032251", - "UPHENO:0080352", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0002844", - "UPHENO:0001002", - "HP:0005528", - "HP:0011793", - "UPHENO:0002948", - "UPHENO:0001005", - "HP:0040064", - "UPHENO:0000541", - "UPHENO:0086005", - "UPHENO:0086635", - "HP:0000118", - "UPHENO:0076710", - "HP:0001172", - "HP:0011805", - "UPHENO:0082875", - "HP:0004322", - "UPHENO:0046707", - "UPHENO:0079876", - "UPHENO:0001003", - "UPHENO:0004459", - "UPHENO:0031839", - "BFO:0000002", - "UPHENO:0052231", - "UPHENO:0002536", - "HP:0001291", - "UPHENO:0021800", - "HP:0045060", - "HP:0011799", - "HP:0004808", + "UPHENO:0026028", "UPHENO:0084928", - "UPHENO:0002320", - "UPHENO:0087355", - "HP:0005561", - "HP:0025461", - "UPHENO:0085189", - "UPHENO:0069254", - "UPHENO:0076718", - "UPHENO:0046624", - "HP:0000001", - "PATO:0000001", - "UPHENO:0050620", - "HP:0002715", - "UPHENO:0076703", - "UPHENO:0088166", - "HP:0011875", - "UPHENO:0002964", + "UPHENO:0085302", + "CL:0000000", + "UPHENO:0002948", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000233", + "UBERON:0013522", + "UBERON:0001710", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", + "UPHENO:0076779", + "CL:0000255", "UPHENO:0080099", - "UPHENO:0080351", - "UPHENO:0046411", - "HP:0002813", - "UPHENO:0020584", - "HP:0020047", - "HP:0011893", - "UPHENO:0086173", - "UPHENO:0002908", - "UPHENO:0075195", - "HP:0011927", - "HP:0004275", - "UPHENO:0085118", - "HP:0011297", - "UPHENO:0005116", - "HP:0040070", - "HP:0040068", - "UPHENO:0085195", - "HP:0009381", - "UPHENO:0076724", - "UPHENO:0002880", - "UPHENO:0076675", + "CL:0000219", + "CL:0002242", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009122", + "HP:0011821", + "HP:0009118", + "UBERON:0010313", + "CL:0000015", "UPHENO:0002830", - "UPHENO:0068971", - "UPHENO:0002905", - "UPHENO:0086589", + "UBERON:0004288", + "UBERON:0011595", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0003457", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "UPHENO:0081786", + "UBERON:0011158", + "UBERON:0003135", + "HP:0009116", + "HP:0000347", + "HP:0025031", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", "UPHENO:0002896", - "HP:0000365", - "UPHENO:0084448", - "UPHENO:0084763", - "HP:0009778", - "UPHENO:0084761", - "UPHENO:0088186", - "UPHENO:0086633", - "HP:0001167", - "HP:0001507", - "HP:0009601", - "UPHENO:0080126", - "UPHENO:0084766", - "UPHENO:0077426", - "UPHENO:0087006", - "HP:0001155", - "HP:0000707", - "HP:0002817", - "UPHENO:0086172", - "HP:0011844", - "HP:0009115", + "GO:0043933", + "UBERON:0012360", + "GO:0006725", "UPHENO:0087501", - "UPHENO:0084447", + "UPHENO:0076800", + "HP:0034261", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0076692", + "UPHENO:0069249", + "UPHENO:0076803", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "GO:0050877", + "HP:0011927", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076805", + "UPHENO:0088168", + "UBERON:0002268", + "UBERON:0000466", + "UPHENO:0084715", + "UBERON:0002470", + "UBERON:0007827", + "UPHENO:0087430", + "CL:0000300", + "HP:0012130", + "UBERON:0011143", + "UBERON:0005177", + "UPHENO:0041629", + "UPHENO:0087427", + "UBERON:0000916", + "HP:0100542", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0082129", + "UBERON:0005173", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "HP:0012210", + "UBERON:8450002", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0002907", + "HP:0010935", + "UBERON:0002398", + "UBERON:0009569", + "HP:0000085", + "UBERON:0010323", + "UBERON:0000489", + "UPHENO:0041226", + "UBERON:0001008", + "UPHENO:0050113", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "UPHENO:0050116", + "GO:0008152", + "HP:0000079", + "GO:0048523", ], "has_phenotype_closure_label": [ - "Abnormality of the nervous system", - "Abnormality of the seventh cranial nerve", - "abnormal cranial nerve morphology", - "paralysed anatomical entity", - "Abnormal skeletal muscle morphology", - "Abnormal muscle physiology", - "Abnormality of facial musculature", - "abnormality of cranial nerve physiology", - "abnormal facial muscle", - "abnormal facial nerve", - "abnormal muscle organ morphology", - "Abnormality of the peripheral nervous system", - "abnormal head morphology", - "Cranial nerve paralysis", - "decreased anatomical entity strength", - "Abnormal nervous system physiology", - "Abnormal nervous system morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Facial palsy", - "abnormal ear", - "decreased qualitatively sensory perception of sound", - "decreased sensory perception of sound", - "Abnormality of head or neck", - "decreased biological_process", - "abnormal craniocervical region", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", - "delayed growth", - "abnormal growth", - "Abnormal peripheral nervous system morphology", - "decreased size of the multicellular organism", - "delayed biological_process", - "abnormality of muscle organ physiology", - "Growth delay", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Pelvic kidney", + "Ectopic kidney", + "sperm", + "haploid cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormality of reproductive system physiology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", + "decreased developmental process", + "decreased spermatogenesis", + "abnormal testis morphology", + "male germ cell", + "male gamete", + "reproductive system", + "abnormality of reproductive system physiology", + "abnormal gamete", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "external male genitalia", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "abnormally localised anatomical entity in independent continuant", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "semen", + "reproductive structure", + "organism substance", + "absent gamete", + "male gamete generation", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "gonad", + "external genitalia", + "reproductive process", + "decreased qualitatively developmental process", + "Abnormal testis morphology", + "Azoospermia", + "abnormal male reproductive system morphology", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "system process", + "ear", + "abnormal developmental process", + "sensory perception", + "abnormality of anatomical entity physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "multicellular organismal process", "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", + "abnormality of multicellular organism height", + "Short stature", + "decreased height of the multicellular organism", + "Chromosomal breakage induced by crosslinking agents", "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Abnormal cranial nerve morphology", - "abnormal peripheral nervous system morphology", - "abnormal biological_process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", "abnormal primary metabolic process", - "abnormality of ear physiology", "Abnormality of metabolism/homeostasis", - "abnormal cellular metabolic process", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "Abnormality of head or neck", + "Abnormal cerebral morphology", + "arm bone", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "root", + "appendage", + "organism", + "Neoplasm of the skin", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "regional part of nervous system", + "Abnormality of brain morphology", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "multi-tissue structure", + "tissue", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal mouth", + "Abnormality of skin pigmentation", + "skeleton of limb", + "organic substance metabolic process", "Abnormality of the head", - "Anemia", - "Abnormal cellular physiology", - "Abnormal erythrocyte morphology", - "Duplication of phalanx of hand", + "abnormal pigmentation", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "decreased length of forelimb zeugopod bone", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Cafe-au-lait spot", + "primary subdivision of skull", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "biological_process", + "abnormal integument", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "pigmentation", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "skeleton of manus", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "gamete generation", + "protein-containing material entity", + "agenesis of anatomical entity", + "digit", + "Hyperpigmentation of the skin", + "Abnormal digit morphology", + "cellular process", + "Absent thumb", + "abnormal autopod region morphology", + "Abnormal myeloid cell morphology", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Neoplasm", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal manus morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "skeletal element", + "zeugopod", + "cranial skeletal system", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "abnormal face", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "craniocervical region", + "forelimb zeugopod skeleton", + "facial skeleton", + "anatomical conduit", + "abnormal limb morphology", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of skeleton", + "lateral structure", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "subdivision of head", + "appendage girdle complex", + "manual digit plus metapodial segment", + "abnormal craniocervical region morphology", + "continuant", + "abnormal size of anatomical entity", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "material anatomical entity", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal phenotype by ontology source", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "erythrocyte", + "abnormal blood cell", + "quality", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "skeletal system", + "motile cell", + "skull", + "limb skeleton subdivision", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal forebrain morphology", + "forelimb", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "absent manual digit", + "decreased size of the mandible", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "forelimb zeugopod", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "anatomical system", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "endochondral element", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "membrane bone", + "paired limb/fin", + "Hypoplasia of the radius", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "limb", + "increased size of the anatomical entity", + "bone element", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "abnormal limb bone morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", "abnormal DNA metabolic process", - "abnormally decreased number of myeloid cell", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "forelimb skeleton", + "genitourinary system", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "forelimb bone", + "anatomical entity hypoplasia", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", "abnormal long bone morphology", - "Duplication of bones involving the upper extremities", - "abnormal platelet", - "Abnormality of chromosome stability", - "abnormal manus", - "abnormal manual digit morphology in the manus", - "Abnormal cranial nerve physiology", - "changed biological_process rate", - "abnormal sensory perception", - "Abnormal myeloid cell morphology", - "decreased height of the multicellular organism", - "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "upper limb segment", + "appendicular skeleton", + "appendicular skeletal system", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "bone of appendage girdle complex", + "aplastic manual digit 1", + "dentary", + "segment of autopod", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "arm", + "abnormal nose morphology", + "skeleton", + "organism subdivision", + "forelimb zeugopod bone hypoplasia", + "Microcephaly", "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "Duplication of hand bones", - "abnormal face", + "subdivision of trunk", + "Abnormal thumb morphology", "abnormally decreased number of hematopoietic cell", - "paralysed cranial nerve", - "abnormal head", - "abnormal bone marrow morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal platelet count", - "abnormal platelet morphology", + "bone of lower jaw", + "mandible hypoplasia", + "integument", + "skeleton of pectoral complex", "decreased length of anatomical entity in independent continuant", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal leukocyte count", - "abnormal musculature", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Abnormal cell morphology", - "abnormal number of anatomical enitites of type cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Acute leukemia", - "decreased qualitatively sensory perception of mechanical stimulus", - "entity", - "abnormal hematopoietic system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of bone marrow cell morphology", - "abnormal limb bone morphology", - "Growth abnormality", - "abnormal cellular process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "paired limb/fin segment", + "abnormal axial skeleton plus cranial skeleton morphology", + "Opisthokonta", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "multi-limb segment region", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", + "radius endochondral element", + "limb long bone", + "zeugopodial skeleton", + "eye", + "compound organ", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", "abnormal nervous system", - "Neoplasm", - "abnormal erythrocyte morphology", - "abnormally decreased number of anatomical entity", - "abnormal peripheral nervous system", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "forelimb zeugopod bone", + "nervous system", + "Narrow palpebral fissure", + "renal system", + "axial skeleton plus cranial skeleton", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "Abnormal hand morphology", + "Metazoa", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "abnormal facial skeleton morphology", + "main body axis", + "Abnormal appendicular skeleton morphology", + "decreased width of the palpebral fissure", + "abnormal kidney morphology", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "abnormal telencephalon morphology", + "body proper", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "axial skeletal system", + "Growth abnormality", + "abnormal orbital region", + "aplasia or hypoplasia of manual digit", + "face", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "delayed growth", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "multi organ part structure", + "hemolymphoid system", + "camera-type eye", "Abnormality of the hand", - "Short digit", - "Abnormal thumb morphology", + "radius bone", + "Anemia", + "ocular adnexa", + "manus", + "abnormal eyelid morphology", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "abnormal size of palpebral fissure", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormality of the orbital region", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "organ part", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormality of the face", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "orbital region", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", "phenotype by ontology source", - "Abnormal cellular phenotype", - "Abnormal ear physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal phenotype by ontology source", - "decreased length of digit", - "abnormal cellular component organization", + "abnormal ocular adnexa morphology", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "internal male genitalia", + "programmed DNA elimination", + "decreased length of long bone", + "obsolete cell", + "digestive system", + "abnormal hematopoietic system", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "Abnormality of the immune system", "specifically dependent continuant", - "abnormal erythroid lineage cell morphology", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "Abnormal leukocyte morphology", "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "Pancytopenia", - "decreased length of manual digit 1", - "Neoplasm by anatomical site", - "quality", - "abnormal craniocervical region morphology", - "continuant", - "decreased qualitatively biological_process", - "Abnormal upper limb bone morphology", - "All", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic system morphology", - "Abnormal digit morphology", + "pectoral appendage skeleton", "abnormal blood cell morphology", - "Phenotypic abnormality", - "Muscle weakness", - "abnormal bone of pectoral complex morphology", - "abnormal bone marrow cell morphology", - "decreased length of anatomical entity", - "Acute myeloid leukemia", - "abnormal cell", - "abnormal anatomical entity length", - "abnormally decreased number of cell", - "Short stature", - "abnormal number of anatomical enitites of type leukocyte", - "Leukemia", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal anatomical entity", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", "abnormal immune system", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal cellular immune system morphology", - "Aplasia/Hypoplasia of the thumb", - "abnormality of nervous system physiology", - "abnormal immune system morphology", - "phenotype", - "Abnormal hand morphology", - "Abnormality of the immune system", - "Abnormality of body height", - "Abnormal appendicular skeleton morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal hematopoietic system morphology", "abnormal limb long bone morphology", - "Hematological neoplasm", - "Abnormal leukocyte morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal chromatin organization", - "Abnormal skeletal morphology", - "Aplasia/hypoplasia of the extremities", - "abnormal leukocyte morphology", - "abnormal bone marrow cell", - "Weakness of facial musculature", - "abnormal cell morphology", - "abnormal sensory perception of sound", - "Abnormal long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "nucleate cell", + "oxygen accumulating cell", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Abnormal jaw morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormal digit", + "lower jaw region", + "subdivision of tube", + "anatomical entity hypoplasia in face", + "abnormal digestive system", + "digestive tract", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "Abnormality of body height", + "tube", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "immune system", + "facial bone", + "mandible", "Abnormality of thrombocytes", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal phalanx of manus morphology", - "abnormal skeletal system", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "abnormal jaw skeleton morphology", + "Abnormality of the digestive system", "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "abnormal size of anatomical entity", - "decreased length of manual digit", - "Abnormality of facial soft tissue", - "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digestive system morphology", + "anterior region of body", + "decreased length of manual digit 1", + "Short digit", "Short finger", - "Aplasia/hypoplasia involving the skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal limb bone", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Abnormal finger morphology", - "Abnormality of the musculature", - "abnormal myeloid cell morphology", - "Aplasia/Hypoplasia of fingers", - "decreased muscle organ strength", - "Short thumb", - "abnormal phalanx morphology", - "Abnormality of limb bone", - "abnormal nervous system morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Duplication of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of the upper limb", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal arm", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal autopod region morphology", - "abnormal limb", - "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "anatomical point", + "aplastic anatomical entity", + "Bulbous nose", + "abnormally increased volume of anatomical entity", + "Abnormal external nose morphology", + "Abnormality of the nose", + "nose", + "nose tip", + "olfactory organ", + "Abnormal nasal tip morphology", + "entire sense organ system", + "abnormal external nose morphology", + "immaterial anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "Horseshoe kidney", + "abnormal renal system morphology", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "abnormal renal system", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "3-D shape anatomical entity", + "changed developmental process rate", + "abnormal genitourinary system", + "excretory system", + "Abnormality of the kidney", + "manual digit 1 plus metapodial segment", + "abdomen", + "abdominal segment element", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", "abnormal manual digit morphology in the independent continuant", - "abnormal manus morphology", - "abnormal nerve", - "abnormal organelle organization", - "abnormal digit", - "Abnormality of the face", - "Bone marrow hypocellularity", - "Abnormality of the ear", - "abnormal manual digit 1 morphology", - "Thrombocytopenia", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal limb morphology", - "Abnormality of thumb phalanx", + "shape anatomical entity in independent continuant", + "metabolic process", + "abdominal segment of trunk", + "biological regulation", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "abnormal chromatin organization", + "abnormal metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", ], - "has_phenotype_count": 11, + "has_phenotype_count": 20, "highlight": None, "score": None, }, diff --git a/backend/tests/fixtures/search_response.py b/backend/tests/fixtures/search_response.py index 4c5ee2f26..cfa37159c 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": 2, + "QTime": 1, "params": { "mm": "100%", "q": "fanconi", @@ -58,6 +58,7 @@ def search_response(): "HP:0000582", "HP:0010469", "HP:0000377", + "HP:0002863", "HP:0002575", "HP:0000483", "HP:0000238", @@ -78,14 +79,13 @@ def search_response(): "HP:0002650", "HP:0000252", "HP:0001882", - "HP:0002863", + "HP:0001510", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", @@ -166,6 +166,7 @@ def search_response(): "Upslanted palpebral fissure", "Absent testis", "Abnormal pinna morphology", + "Myelodysplasia", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", @@ -186,14 +187,13 @@ def search_response(): "Scoliosis", "Microcephaly", "Leukopenia", - "Myelodysplasia", + "Growth delay", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", @@ -272,2154 +272,3584 @@ def search_response(): ], "has_phenotype_count": 106, "has_phenotype_closure": [ - "HP:0001053", - "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0042775", - "UPHENO:0077885", - "UPHENO:0086173", + "HP:0001010", + "UPHENO:0085344", + "CL:0000233", + "CL:0000457", + "UPHENO:0085189", "UPHENO:0086049", - "UPHENO:0085070", + "CL:0000458", + "HP:0001873", "UPHENO:0084987", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0001939", + "UPHENO:0086173", + "HP:0011875", + "UPHENO:0085070", "HP:0003220", + "GO:0008152", + "HP:0001939", + "HP:0000002", + "UPHENO:0075159", "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085118", - "HP:0005522", - "HP:0020047", + "CL:0000329", + "UPHENO:0088170", + "UPHENO:0084928", + "CL:0000232", + "GO:0048872", + "HP:0001877", + "HP:0010972", "UPHENO:0088162", + "GO:0030218", "HP:0025461", - "HP:0001877", - "UPHENO:0085068", - "UPHENO:0087510", + "CL:0000764", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "GO:0042592", + "GO:0002376", + "GO:0009987", + "HP:0020047", + "UBERON:0015001", + "HP:0002818", + "UPHENO:0080187", + "UPHENO:0075198", "HP:0012745", - "UPHENO:0046753", - "HP:0010978", - "HP:0032101", - "UPHENO:0053580", + "HP:0000010", + "UPHENO:0002263", + "UPHENO:0053644", + "HP:0000028", + "UBERON:0036295", + "UBERON:0006555", "UPHENO:0002806", "HP:0025633", + "UBERON:0000056", + "HP:0000083", + "UPHENO:0002442", "HP:0012211", - "UPHENO:0086128", "UPHENO:0002411", - "HP:0008373", + "UPHENO:0086132", + "HP:0000135", "HP:5201015", - "HP:0000202", - "HP:0000175", - "UPHENO:0033635", + "UPHENO:0081423", "UPHENO:0034110", - "HP:0000218", - "UPHENO:0001208", + "UPHENO:0063513", "HP:0000268", - "UPHENO:0075148", - "HP:0000069", - "UPHENO:0002442", - "UPHENO:0087307", + "UPHENO:0001208", + "UBERON:0013766", + "UBERON:1000021", + "UPHENO:0072402", "UPHENO:0087928", + "UBERON:0001084", "UPHENO:0087058", - "HP:0000286", + "HP:0000324", "UPHENO:0084734", - "UPHENO:0084729", - "UPHENO:0041151", + "HP:0001999", + "UPHENO:0076704", + "HP:0001263", + "UPHENO:0005982", "UPHENO:0041083", - "UPHENO:0066972", + "UPHENO:0041084", + "UPHENO:0069249", + "UPHENO:0081141", + "UBERON:0004768", "UPHENO:0083646", - "HP:0034261", - "HP:0002692", - "HP:0009118", - "HP:0011821", + "UPHENO:0081314", + "CL:0000081", + "UBERON:0012360", + "UBERON:0001708", + "UBERON:0003278", + "UBERON:0011156", + "UBERON:0001684", + "HP:0000347", + "HP:0009116", + "HP:0004322", "HP:0030791", - "HP:0009122", + "HP:0011873", "UPHENO:0081788", + "UPHENO:0081786", + "HP:0000277", "UPHENO:0088116", - "UPHENO:0081141", - "UPHENO:0050625", - "HP:0000365", - "UPHENO:0052970", - "HP:0000028", - "UPHENO:0052231", + "UPHENO:0080087", + "UBERON:0001710", + "UPHENO:0084457", + "HP:0000286", + "HP:0009118", + "HP:0009122", + "GO:0050954", "UPHENO:0005518", + "UPHENO:0052970", + "HP:0000365", "HP:0000486", "HP:0000549", - "HP:0000504", + "GO:0034101", + "UPHENO:0050622", "UPHENO:0050236", + "GO:0050953", + "UPHENO:0052164", + "UPHENO:0085881", "HP:0000520", + "HP:0000568", "HP:0100887", "UPHENO:0075219", - "HP:0000496", + "HP:0000359", + "HP:0011821", + "HP:0012547", + "HP:0031704", + "UPHENO:0003044", "UPHENO:0079837", - "HP:0001751", - "UPHENO:0078736", - "HP:0040194", + "UPHENO:0066972", + "UPHENO:0080581", + "UPHENO:0002240", "UPHENO:0080602", "HP:0007670", - "HP:0011389", - "UPHENO:0002240", - "HP:0012547", - "UPHENO:0005170", - "UPHENO:0041395", + "HP:0000496", + "UPHENO:0079828", + "HP:0002719", + "UPHENO:0076766", + "UPHENO:0003053", + "UBERON:0003975", "HP:0000008", - "UPHENO:0041664", + "UBERON:0000993", + "UBERON:0013515", + "UPHENO:0005170", "HP:0000130", - "HP:0000813", - "HP:0006501", "UPHENO:0041033", - "UPHENO:0076748", - "HP:0001199", + "HP:0010460", + "UBERON:0003100", + "UBERON:0015025", + "HP:0001172", + "UBERON:0015024", + "UBERON:5102389", + "GO:0002262", + "UBERON:0003620", + "UBERON:0012358", + "UBERON:0006048", + "UBERON:5006048", "UPHENO:0076724", - "HP:0009602", - "UPHENO:0079833", - "UPHENO:0055092", - "HP:0100022", + "UPHENO:0021800", "UPHENO:0083263", - "UPHENO:0049586", + "UPHENO:0050620", + "GO:0060004", + "UPHENO:0050613", + "NBO:0000389", + "UBERON:0004742", + "NBO:0000388", + "NBO:0000001", + "NBO:0000403", + "HP:0100022", + "HP:0001347", + "UPHENO:0050606", "UPHENO:0049622", - "UPHENO:0087806", + "GO:0007610", + "UPHENO:0080585", + "GO:0050905", + "NBO:0000338", + "GO:0050896", "HP:0000708", - "HP:0001347", - "UPHENO:0050613", - "UPHENO:0077877", - "UPHENO:0050034", - "UPHENO:0005642", + "UPHENO:0050079", + "UPHENO:0041151", + "UPHENO:0078622", + "UPHENO:0080393", + "HP:0001537", + "UBERON:0007118", + "HP:0004298", "UPHENO:0076794", + "HP:0001551", + "HP:0003549", + "UBERON:0003697", + "HP:0004299", + "UPHENO:0002712", + "UBERON:0000474", "HP:0010866", - "HP:0100790", "UPHENO:0086122", - "HP:0004298", - "UPHENO:0053644", - "HP:0001537", - "HP:0003549", - "HP:0002719", - "UPHENO:0075684", - "UPHENO:0033616", - "HP:0005120", - "UPHENO:0019888", - "UPHENO:0080187", + "UPHENO:0069254", + "UBERON:0002085", + "UPHENO:0019890", + "UPHENO:0086128", + "UPHENO:0015329", + "UPHENO:0086857", "HP:0031654", + "HP:0000218", + "UBERON:0002146", + "UPHENO:0086863", + "HP:0001707", "HP:0002623", - "HP:0001714", - "UPHENO:0000996", + "UPHENO:0086854", + "GO:0007600", + "HP:0001671", "UPHENO:0084482", + "UBERON:0002094", + "UPHENO:0084489", + "HP:0001641", "UPHENO:0084715", - "UPHENO:0033604", - "HP:0001629", - "HP:0001707", - "UPHENO:0042834", - "UPHENO:0087022", + "UPHENO:0019886", + "UPHENO:0086864", + "HP:0011563", + "UBERON:0010688", + "UPHENO:0086855", + "HP:0011545", + "HP:0001714", + "UBERON:0003037", + "HP:0001636", + "HP:0011025", + "UPHENO:0042775", + "UBERON:0002099", + "UBERON:0005983", "HP:0001637", - "UPHENO:0020809", - "HP:0001639", - "UPHENO:0021800", - "HP:0001638", + "UPHENO:0024906", + "UPHENO:0076781", + "UBERON:0018260", "UPHENO:0077800", + "UBERON:0000383", + "HP:0001638", + "UBERON:0005985", + "UPHENO:0087018", + "UBERON:0018674", + "UBERON:0006876", + "UBERON:0002201", + "UBERON:0003498", + "UBERON:0011695", + "UBERON:0003513", "HP:0001643", - "UPHENO:0087309", - "HP:0012130", - "UPHENO:0033603", - "HP:0011603", + "UBERON:0004716", "UPHENO:0015290", - "UPHENO:0087018", + "UPHENO:0087309", + "UBERON:0003834", + "UBERON:0007100", + "UBERON:0004151", + "UPHENO:0063527", + "UBERON:0004145", + "UBERON:0000946", + "HP:0001646", + "HP:0001713", + "UBERON:0015228", + "UBERON:0005623", + "UBERON:0005337", "UPHENO:0015319", - "HP:0001654", - "UPHENO:0015327", - "UPHENO:0076810", + "UPHENO:0076743", + "HP:0000069", "UPHENO:0087070", - "HP:0000347", - "UPHENO:0015317", - "UPHENO:0086858", + "UBERON:0002084", + "UBERON:0005956", + "HP:0001627", + "UBERON:0015410", "UPHENO:0087612", - "HP:0030962", + "UPHENO:0015282", + "UBERON:0035553", + "UPHENO:0015327", + "HP:0002692", + "UBERON:0003519", "UPHENO:0076809", - "HP:0001679", - "UPHENO:0080393", + "UBERON:0010191", + "HP:0001631", "UPHENO:0041565", - "UPHENO:0041203", - "HP:0001763", - "UPHENO:0082356", - "HP:0011994", + "HP:0001679", "UPHENO:0082454", "UPHENO:0041369", - "UPHENO:0086863", - "UPHENO:0078375", - "HP:0001770", - "HP:0000340", - "UPHENO:0087531", - "HP:0430000", - "UPHENO:0079828", - "UPHENO:0087530", - "HP:0011017", - "UPHENO:0087214", - "UPHENO:0084465", - "UPHENO:0005994", - "UPHENO:0076765", - "HP:0002683", - "UPHENO:0085876", - "HP:0011218", + "UPHENO:0078347", + "UPHENO:0078246", + "UBERON:0000956", + "UPHENO:0041041", "UPHENO:0082905", - "UPHENO:0019477", - "HP:0001549", - "UPHENO:0086612", - "UPHENO:0021045", - "UPHENO:0088183", - "UPHENO:0084771", - "UPHENO:0002941", - "HP:0009116", - "UPHENO:0086978", - "UPHENO:0087933", - "UPHENO:0087121", - "UPHENO:0087602", - "HP:0012331", - "HP:0010438", - "UPHENO:0020258", - "HP:0002251", - "HP:0410015", - "HP:0002270", - "UPHENO:0081423", - "HP:0008438", - "HP:0003312", - "HP:0000568", - "UPHENO:0088123", - "UPHENO:0087858", - "UPHENO:0081436", - "HP:0003468", - "UPHENO:0076695", - "UPHENO:0076743", - "HP:0002143", - "UPHENO:0075655", - "UPHENO:0087363", - "UPHENO:0002992", - "UPHENO:0087558", - "HP:0045005", - "UPHENO:0020967", - "UPHENO:0052164", - "UPHENO:0081584", - "HP:0002644", - "UPHENO:0086091", - "UPHENO:0079871", - "UPHENO:0087980", - "UPHENO:0087892", "HP:0000290", - "UPHENO:0086088", - "UPHENO:0002700", - "HP:0001367", - "UPHENO:0052675", - "UPHENO:0075159", - "UPHENO:0076767", - "UPHENO:0075945", - "UPHENO:0012541", - "UPHENO:0085881", - "UPHENO:0069293", - "UPHENO:0080165", - "UPHENO:0081091", - "UPHENO:0081344", - "UPHENO:0081790", - "HP:0006503", - "UPHENO:0088170", - "UPHENO:0081792", - "HP:0009821", - "UPHENO:0068971", - "HP:0001384", - "HP:0009826", - "UPHENO:0012274", - "UPHENO:0086150", - "UPHENO:0084829", - "UPHENO:0015324", - "UPHENO:0086143", - "HP:0004097", - "UPHENO:0050079", - "UPHENO:0033559", - "UPHENO:0080369", - "HP:0000525", - "UPHENO:0086817", + "UPHENO:0076732", + "UBERON:0007914", + "UPHENO:0055092", + "UPHENO:0005994", + "UBERON:0003528", + "UBERON:0000209", + "UBERON:0002020", + "UBERON:0000203", + "HP:0002683", + "UPHENO:0086595", + "HP:0002538", + "UBERON:0008200", + "UBERON:0010364", + "UBERON:0004339", + "UBERON:0011158", + "UBERON:0004756", + "UPHENO:0084465", + "UBERON:0016529", + "HP:0000639", + "UBERON:0003128", + 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"UBERON:0005181", + "UPHENO:0005116", + "UPHENO:0087665", + "UBERON:0000010", "HP:0045060", - "UPHENO:0072402", - "UPHENO:0019886", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UBERON:0002384", + "UBERON:0012141", + "UPHENO:0085371", + "UPHENO:0076723", "UPHENO:0084766", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0080201", + "UBERON:0003101", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "HP:0008373", "HP:0005927", - "UPHENO:0050622", - "HP:0040068", - "UPHENO:0002708", - "HP:0012638", - "HP:0001780", - "HP:0006101", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0076735", - "UPHENO:0078081", - "UPHENO:0080585", "UPHENO:0078179", - "HP:0004348", - "HP:0001551", - "UPHENO:0086792", - "UPHENO:0078288", - "UPHENO:0076786", - "UPHENO:0078215", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "HP:0004209", + "UPHENO:0082671", "UPHENO:0082834", - "HP:0004349", - "UPHENO:0084511", - "UPHENO:0086144", + "HP:0004209", + "UPHENO:0087203", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082835", + "UPHENO:0080369", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", "HP:0009179", - "UPHENO:0076704", - "HP:0004207", + "HP:0011446", + "HP:0030084", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0016491", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", + "UPHENO:0076736", + "UBERON:0019221", + "UBERON:5003625", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "HP:0200007", + "HP:0009821", + "UPHENO:0081790", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0012274", + "UPHENO:0053580", "HP:0040019", + "UPHENO:0069293", + "UPHENO:0012541", + "UPHENO:0087974", + "UBERON:0004770", + "UBERON:0001271", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "UPHENO:0060026", + "HP:0001367", + "UPHENO:0002700", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0087892", + "UBERON:0010425", + "UBERON:0007823", + "UBERON:0001464", + "UPHENO:0087602", + "UBERON:0000982", + "UBERON:0005913", + "HP:0002644", + "UBERON:0003828", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0003463", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:5002389", + "UPHENO:0087558", + "UBERON:0000473", + "UPHENO:0020967", + "GO:0002009", + "HP:0045005", + "HP:0000271", + "UBERON:0005893", + "UBERON:0002544", + "UPHENO:0087585", + "UBERON:0000060", + "UPHENO:0076695", + "HP:0003468", + "UPHENO:0076810", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0081436", + "UPHENO:0087858", + "UBERON:0004375", + "GO:0009792", + "UBERON:5101463", + "GO:0007399", + "GO:0021915", + "UBERON:0005897", + "UBERON:0005174", + "GO:0048729", + "GO:0009888", + "UBERON:0001558", + "GO:0048731", + "UPHENO:0075148", + "UBERON:0004249", + "GO:0035295", + "UBERON:0004908", + "UBERON:0006598", + "UBERON:0002240", + "HP:0002143", + "HP:0000119", + "GO:0043009", + "GO:0014020", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "UPHENO:0084729", + "UBERON:0016880", + "GO:0001503", + "UBERON:0002412", + "UPHENO:0088123", + "HP:0007874", + "UPHENO:0002992", + "HP:0001710", + "UPHENO:0087363", + "HP:0000364", + "GO:0009790", + "UBERON:0002050", + "UBERON:0000011", + "UPHENO:0087121", + "HP:0002251", + "UPHENO:0002941", + "UBERON:0013768", + "UPHENO:0084771", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "HP:0012331", + "HP:0001000", + "UBERON:0012430", + "UPHENO:0021045", + "UPHENO:0020258", + "UBERON:0002005", + "HP:0410015", + "UBERON:0002410", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "UPHENO:0056072", + "HP:0001549", + "UPHENO:0019477", + "UBERON:0005401", + "UBERON:0011300", + "UPHENO:0075655", + "UBERON:0011164", + "UBERON:0003457", + "UPHENO:0087530", ], "has_phenotype_closure_label": [ - "Hypopigmented skin patches", + "decreased biological_process in skin of body", + "decreased qualitatively pigmentation in independent continuant", + "decreased biological_process in independent continuant", + "decreased biological_process in multicellular organism", "Hypopigmentation of the skin", - "decreased pigmentation in skin of body", - "decreased qualitatively pigmentation", - "decreased pigmentation in multicellular organism", + "decreased qualitatively biological_process in independent continuant", + "anucleate cell", + "secretory cell", + "abnormal platelet", + "abnormally decreased number of myeloid cell", + "abnormally decreased number of platelet", "abnormal blood cell", - "abnormal blood cell morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormal platelet morphology", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Abnormal cellular physiology", + "Abnormality of chromosome stability", + "obsolete cell", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", "Abnormality of body height", - "Abnormal cell morphology", - "Sideroblastic anemia", + "oxygen accumulating cell", + "erythrocyte differentiation", "abnormal myeloid cell morphology", + "Anemia of inadequate production", + "Sideroblastic anemia", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", "Abnormal myeloid cell morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte", + "myeloid cell", + "blood cell", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "cellular developmental process", "abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", + "myeloid cell differentiation", + "hemopoiesis", + "homeostatic process", + "immune system process", + "cellular process", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "Abnormal size of the palpebral fissures", "decreased length of palpebral fissure", + "abnormality of immune system physiology", "Abnormality of immune system physiology", - "Unusual infection", - "Recurrent urinary tract infections", + "Cryptorchidism", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised testis", "Abnormal ureter morphology", - "abnormal ureter", - "abnormality of renal system physiology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", - "Puberty and gonadal disorders", + "abnormal ureter morphology", + "Abnormality of the ureter", + "ureter", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", "abnormally decreased functionality of the gonad", - "Orofacial cleft", - "abnormality of anatomical entity height", + "Craniofacial cleft", + "Cleft palate", "High palate", "increased height of anatomical entity in independent continuant", - "abnormal size of head", + "increased height of the anatomical entity", "increased size of the head", - "Dolichocephaly", - "abnormal skin of head morphology", + "Increased head circumference", + "skin of face", + "upper eyelid", + "head or neck skin", + "Epicanthus", "abnormal skin of face morphology", - "abnormal forehead morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", + "skin of head", + "increased length of the epicanthal fold", + "zone of skin", + "abnormal asymmetry of anatomical entity", + "sloped anatomical entity", + "abnormal shape of forehead", + "abnormal mandible morphology", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "facial skeleton", + "mandible", + "facial bone", "decreased size of the mandible", - "anatomical entity hypoplasia in face", + "Hypoplastic facial bones", "facial bone hypoplasia", - "mandible hypoplasia", - "abnormally localised anatomical entity", - "Micrognathia", + "bone of lower jaw", "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "aplasia or hypoplasia of skull", - "Facial asymmetry", - "abnormal sensory perception of sound", + "Abnormal mandible morphology", + "anatomical entity hypoplasia in face", + "lower jaw region", + "bone element hypoplasia in face", + "mandible hypoplasia", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", + "Hearing abnormality", + "decreased qualitatively sensory perception of sound", + "sloped forehead", + "sensory perception of mechanical stimulus", + "abnormal sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "Strabismus", + "Abnormal conjugate eye movement", + "abnormal sensory perception", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", "abnormal size of eyeball of camera-type eye", - "abnormal vestibulo-ocular reflex", - "abnormal internal ear", + "Abnormality of globe size", + "abnormal physiologic nystagmus", + "cranial nerve related reflex", "abnormality of ear physiology", - "Cryptorchidism", - "Nystagmus", + "Abnormal vestibulo-ocular reflex", + "Abnormality of eye movement", + "abnormal eye movement", + "abnormal vestibulo-ocular reflex", + "eye movement", "Abnormal vestibular function", - "Abnormality of the uterus", - "abnormal uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "bicornuate anatomical entity", "abnormal female reproductive system", "shape uterus", - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", + "oviduct", + "abnormal internal female genitalia morphology", + "female organism", + "Abnormality of the female genitalia", + "internal female genitalia", + "abnormal uterus", + "Abnormality of the uterus", + "uterus", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manus bone", + "skeleton of manual acropodium", + "abnormal manual digit 1 morphology", + "abnormal visual perception", "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", + "Triphalangeal thumb", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1", + "abnormal anatomical entity morphology in the skeleton of manus", + "Bicornuate uterus", + "abnormal behavior", "Hyperreflexia", + "abnormal response to external stimulus", + "Abnormality of movement", + "body part movement", "increased qualitatively response to stimulus", - "increased reflex", - "abnormal musculoskeletal movement", - "abnormal behavior", - "decreased embryo development", + "reflex", + "multicellular organismal movement", + "abnormal voluntary musculoskeletal movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "Recurrent urinary tract infections", + "involuntary movement behavior", "abnormal embryo development", - "Intrauterine growth retardation", - "shape forehead", + "decreased embryo development", + "herniated anatomical entity", + "Abnormality of the abdominal wall", + "abnormal umbilicus morphology", + "umbilicus", + "connective tissue", + "abnormal incomplete closing of the abdominal wall", "herniated abdominal wall", + "Hernia of the abdominal wall", "Abnormal umbilicus morphology", "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Hernia", + "interatrial septum", "abnormal interatrial septum morphology", - "Tetralogy of Fallot", - "Overriding aorta", - "Ventricular hypertrophy", + "abnormal cardiac atrium morphology", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "hypertrophic heart right ventricle", + "interventricular septum", + "metabolic process", "Abnormal cardiac septum morphology", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", - "abnormal interventricular septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "abnormally increased volume of anatomical entity", "abnormal cardiac septum morphology", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "cardiac septum", + "abnormally increased volume of anatomical entity", + "hypertrophic cardiac ventricle", + "Abnormal ventricular septum morphology", + "Global developmental delay", + "reflexive behavior", "Right ventricular hypertrophy", - "abnormal heart right ventricle morphology", + "heart layer", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "abnormal myocardium morphology", + "vasculature of organ", + "abnormal female reproductive organ morphology", "abnormally decreased functionality of the anatomical entity", - "abnormally decreased functionality of the myocardium", + "vasculature of trunk", + "heart blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal coronary vessel morphology", "abnormal incomplete closing of the ductus arteriosus", - "abnormal eye movement", - "abnormal artery morphology in the independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "cardiac valve", + "internal ear", + "heart left ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "Abnormal heart valve morphology", "abnormal cardiac valve morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", "abnormal aortic valve morphology", - "abnormal outflow part of left ventricle morphology", + "heart", + "abnormal semi-lunar valve morphology", + "abnormal heart morphology", "abnormal anatomical entity morphology in the heart", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "bone of jaw", + "aortic system", "Abnormal aortic morphology", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "flat longitudinal arch of pes", - "decreased qualitatively sensory perception of mechanical stimulus", + "aorta", + "longitudinal arch of pes", "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "flat anatomical entity in independent continuant", "flat anatomical entity", - "abnormal cerebral cortex morphology", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "abnormal vault of skull", - "abnormally protruding anatomical entity", - "abnormal shape of frontal cortex", - "Abnormal calvaria morphology", - "Abnormal cerebral cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", - "Abnormal shape of the frontal region", - "abnormal size of heart right ventricle", - "Meckel diverticulum", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "abnormal ganglion morphology", - "abnormal incomplete closing of the arch of centrum of vertebra", - "Neural tube defect", - "abnormal shape of forehead", - "abnormal tube formation", - "abnormal vertebral column morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal vertebral morphology", - "Hernia", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal opening of the anatomical entity", - "Abnormality of femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal size of palpebral fissure", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormal femur morphology", - "Lower extremity joint dislocation", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "anatomical entity dislocation", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Joint dislocation", - "abnormal synovial joint morphology", - "Abnormal joint morphology", - "Sloping forehead", - "decreased size of the ulna", - "decreased length of anatomical entity in independent continuant", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "decreased length of forelimb zeugopod bone", + "flattened anatomical entity in independent continuant", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "neurocranium", + "abnormal head bone morphology", + "abnormal forehead", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "lower urinary tract", + "Abnormality of globe location", + "pelvic region of trunk", + "myeloid cell homeostasis", + "glans penis", + "abnormal posterior nasal aperture morphology", + "abnormal internal naris", + "material anatomical entity", + "cranial skeletal system", + "posterior nasal aperture", "decreased size of the anatomical entity in the pectoral complex", - "Hypoplasia of the ulna", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", + "Abnormal skull morphology", + "anus", + "abnormal nose", + "abnormal skull morphology", + "anus atresia", + "reproductive organ", + "Short long bone", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Cataract", + "subdivision of digestive tract", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Weight loss", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal anus", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "neural tube formation", + "abnormal common carotid artery plus branches morphology", + "Abnormal anus morphology", + "abnormal anatomical entity mass density", + "outflow tract", + "germ cell", + "arterial system", + "Decreased bone element mass density", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "anterior uvea", + "vestibulo-auditory system", "Aplasia/Hypoplasia affecting the uvea", - "Abnormal skeletal morphology", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "changed biological_process rate in independent continuant", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal iris morphology", - "abnormal penis", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", + "transparent eye structure", + "system", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal respiratory system", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "abnormal embryo morphology", - "Abnormal venous morphology", + "Clinodactyly", + "Eumetazoa", + "Eukaryota", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "forelimb long bone", + "abnormal size of skull", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "skeleton of limb", + "postcranial axial skeletal system", + "Clubbing of toes", + "drooping eyelid", + "Dolichocephaly", + "common carotid artery plus branches", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "root", + "bone element", + "Ptosis", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "limb skeleton subdivision", + "Abnormality of the choanae", + "Abnormal cell morphology", + "Abnormal palate morphology", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormal forearm bone morphology", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "Atrial septal defect", + "drooping anatomical entity", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "Abnormal morphology of ulna", + "skeletal element", + "zeugopod", + "Aplasia/Hypoplasia of the iris", + "mouth", + "paired limb/fin", + "abnormal skeletal system", + "Abnormal calvaria morphology", + "Anal atresia", + "abnormally formed anterior chamber of eyeball", + "anatomical conduit", + "septum", + "Abnormality of limb bone morphology", + "abnormal digestive system morphology", + "endochondral bone", + "subdivision of skeleton", + "Abnormal forebrain morphology", + "appendage girdle complex", + "subdivision of head", + "Abnormality of limbs", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", "abnormal blood vessel morphology", - "abnormal vascular system morphology", - "Ventriculomegaly", - "sloped anatomical entity", + "Abnormal venous morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "venous blood vessel", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "abnormal liver", + "embryonic morphogenesis", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "abnormal vasculature", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "olfactory system", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "cardiovascular system", + "blood vasculature", + "blood vessel", + "penis", + "Orofacial cleft", + "digestive system element", + "Abnormality of body weight", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "abnormal artery morphology in the independent continuant", + "abnormal cranium morphology", + "Abnormality iris morphology", + "abnormal penis morphology", + "organism", + "secondary palate", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", "abnormal cardiovascular system morphology", "Abnormality of mental function", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", + "nervous system process", "Neurodevelopmental abnormality", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", + "cerebrospinal fluid", + "forelimb bone", + "Abnormal uvula morphology", + "abnormal cardiac ventricle morphology", + "endochondral element", + "anatomical entity hypoplasia", "abnormal central nervous system morphology", + "abnormal brain ventricle morphology", + "skeletal joint", + "decreased length of forelimb zeugopod bone", + "Abnormality of the nose", + "developmental process involved in reproduction", + "organ system subdivision", + "abnormal nervous system morphology", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "pedal digit digitopodial skeleton", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "Abnormal cardiovascular system physiology", "Abnormal cerebrospinal fluid morphology", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", + "forelimb zeugopod bone", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "abnormal nervous system", + "abnormal lens of camera-type eye morphology", + "Hydrocephalus", + "abnormal anus morphology", "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormality of brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "ventricular system of central nervous system", + "anatomical entity dysfunction in independent continuant", "abnormal brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "shape cornea", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormal small intestine morphology", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "abnormal anatomical entity", - "abnormal artery morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal forearm morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "decreased biological_process", + "abnormal neocortex morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "sensory perception", "abnormality of anatomical entity mass", - "Ventricular septal defect", + "Abnormality of corneal shape", + "segment of autopod", + "Abnormal anterior eye segment morphology", "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", + "cerebral hemisphere", "abnormal cornea, asymmetrically curved", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "abnormal vein morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Decreased body weight", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal eye physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", + "Abnormal cellular immune system morphology", + "endocrine gland", + "nose", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "ocular surface region", "abnormal internal genitalia", - "Abnormal tracheobronchial morphology", - "abnormal myocardium morphology", + "Finger clinodactyly", + "epithelial tube", + "curvature anatomical entity", + "vessel", + "lateral structure", + "pulmonary valve", + "cellular organisms", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "absent sperm in the independent continuant", + "pelvic region element", + "All", + "Abnormal bone structure", + "Abnormality of male external genitalia", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "olfactory organ", + "Abnormality of the gastrointestinal tract", + "abnormal number of anatomical enitites of type anatomical entity", + "absent gamete", + "iris", + "naris", + "Small intestinal stenosis", + "male gamete generation", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "arm", + "abnormal bone of pelvic complex morphology", + "vertebra", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "gonad", + "abnormal ulna morphology", + "Decreased anatomical entity mass density", + "ganglion", + "sensory system", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "upper limb segment", + "biological_process", + "abnormal reproductive process", + "opaque lens of camera-type eye", + "abnormal shape of external ear", + "abnormal shape of continuant", + "camera-type eye", + "Hypertrophic cardiomyopathy", "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Recurrent infections", - "asymmetrically curved cornea", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", + "neural tube development", + "external genitalia", + "abnormal anatomical entity morphology in the brain", + "abnormal male reproductive system morphology", + "mesoderm-derived structure", + "autopod bone", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "intramembranous bone", + "pelvic complex", + "anatomical line between pupils", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "Abnormality of the head", + "abnormal blood cell morphology", "abnormal cell", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal digestive system", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormal visual perception", + "male reproductive organ", + "disconnected anatomical group", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "absent gamete", - "abnormal phenotype by ontology source", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal form of the vertebral bodies", - "entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal spatial pattern of anatomical entity", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "abnormal cornea morphology", - "continuant", - "abnormal craniocervical region morphology", - "Slanting of the palpebral fissure", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormally increased number of anatomical entity in the independent continuant", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "abnormal amniotic fluid", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "increased biological_process", + "transudate", + "Abnormal joint morphology", + "anterior region of body", "abnormal head", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", + "artery", + "jaw region", + "epithelium development", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "reproductive structure", + "tunica fibrosa of eyeball", + "abnormal limb bone morphology", + "anatomical system", + "upper digestive tract", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "testis", + "non-connected functional system", + "abnormal growth", + "abnormal craniocervical region morphology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "appendage girdle region", + "platelet", "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal reproductive system morphology", + "hip", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal orbital region", + "simple eye", "abnormal male reproductive organ morphology", - "decreased developmental process", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", + "occurrent", + "pedal digit phalanx endochondral element", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "abnormality of male reproductive system physiology", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal face morphology", - "increased height of the anatomical entity", - "abnormal upper urinary tract", - "Limb undergrowth", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Overriding aorta", + "trachea", + "Abnormality of the skeletal system", + "Deviation of finger", + "organ", + "pedal digit plus metapodial segment", + "reproduction", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal manual digit morphology in the manus", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal eyelid morphology", + "manus", + "exocrine system", + "Abnormality of the genitourinary system", + "absent germ cell", + "Abnormal heart valve physiology", + "changed biological_process rate", "Abnormality of the outer ear", "abnormal gamete", - "abnormality of camera-type eye physiology", - "abnormal gamete generation", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", + "quality", + "Slanting of the palpebral fissure", + "ectoderm-derived structure", + "valve", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "palpebral fissure", + "abnormal head morphology", "decreased spermatogenesis", - "abnormal kidney morphology", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Abnormal cornea morphology", - "Clubbing of toes", - "abnormal spermatogenesis", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal penis morphology", + "digestive tract", + "abnormal shape of frontal cortex", + "abnormal great vessel of heart morphology", + "frontal cortex", + "Displacement of the urethral meatus", + "nervous system", + "abnormal face", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "vault of skull", + "skeleton of pectoral complex", + "specifically dependent continuant", + "organism substance", + "female reproductive organ", + "ocular adnexa", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "subdivision of organism along main body axis", + "cranium", + "abnormal ileum morphology", + "neural tube closure", + "curved anatomical entity", + "internal male genitalia", + "digestive system", + "decreased length of long bone", + "anatomical entity", + "musculoskeletal movement", + "decreased qualitatively biological_process", "abnormal ocular adnexa", - "Non-obstructive azoospermia", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormal shape of continuant", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Absent testis", - "Abnormal male reproductive system physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "changed developmental process rate", - "abnormal genitourinary system", - "abnormal vasculature", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "Anal atresia", - "abnormal small intestine", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Abnormality of the anus", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "Decreased anatomical entity mass", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", + "entity", + "Abnormal form of the vertebral bodies", + "Hypogonadism", + "arm bone", + "urethral opening", + "abnormal spinal cord morphology", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "multicellular organismal reproductive process", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "forelimb endochondral element", "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "opaque anatomical entity", - "Abnormal lens morphology", - "drooping eyelid", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Abnormal axial skeleton morphology", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "abnormal internal naris", - "Choanal atresia", - "posterior nasal aperture atresia", - "Short long bone", - "anus atresia", - "abnormal palpebral fissure", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "Abnormality of the choanae", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", + "outflow tract of ventricle", + "Abnormality of the skin", + "abnormal leukocyte morphology", + "clavate digit", + "shape eyelid", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "material entity", + "increased reflex", + "long bone", "Abnormality of the orbital region", - "abnormal nerve", - "Abnormality of the lower urinary tract", - "Displacement of the urethral meatus", - "abnormal urethra", - "abnormal renal system", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "abnormal shape of palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Abnormality of the vertebral column", - "Macule", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "Abnormal forebrain morphology", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal hematopoietic system", - "abnormally decreased number of hematopoietic cell", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", + "roof of mouth", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "abnormal anterior uvea morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "postcranial axial skeleton", + "Decreased body weight", + "autopodial extension", + "forehead", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "Abnormal penis morphology", + "Intellectual disability", + "eyelid", "Abnormality of the ear", "abnormally decreased number of leukocyte", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "Abnormal reflex", + "abnormal anatomical entity morphology", + "hindlimb joint", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal camera-type eye morphology", + "Abnormal eyelid morphology", + "gamete generation", + "protein-containing material entity", "abnormally decreased number of cell in the independent continuant", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Myelodysplasia", - "Frontal bossing", - "abnormal size of brain ventricle", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal liver", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", + "abnormal hematopoietic system", + "asymmetrically curved cornea", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "abnormal number of anatomical enitites of type sperm", + "external male genitalia", + "Abnormal external genitalia", + "Abnormality of the peripheral nervous system", + "trunk region element", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "organism subdivision", + "abnormality of camera-type eye physiology", + "endocrine system", + "immune system", + "Abnormality of the curvature of the cornea", + "abnormal gamete generation", + "leukocyte", + "Abnormal facial shape", + "tube morphogenesis", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "reproductive system", + "opaque anatomical entity", + "system process", + "male gamete", + "visual system", + "lower respiratory tract", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Cognitive impairment", + "organ subunit", + "abnormal male reproductive system", + "abnormal mouth morphology", + "abnormal bone element mass density", + "main body axis", + "obsolete multicellular organism reproduction", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "upper jaw region", + "gamete", + "tube formation", + "Abnormality of reproductive system physiology", + "process", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "limb", + "heart right ventricle", + "lens of camera-type eye", + "increased size of the anatomical entity", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "abnormal external male genitalia", + "abnormal tracheobronchial tree morphology", + "internal naris", + "sperm", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal postcranial axial skeleton morphology", + "Opisthokonta", + "Abnormality of the ocular adnexa", + "Abnormality of digestive system morphology", + "ear", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "orbital region", + "Abnormal pinna morphology", + "Reduced bone mineral density", + "Myelodysplasia", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "physiologic nystagmus", + "hemolymphoid system", + "Nystagmus", + "esophagus", + "Lower extremity joint dislocation", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "abnormal artery morphology", + "respiratory tract", + "germ line cell", + "bone element hypoplasia in independent continuant", + "respiratory tube", + "glans", + "abnormality of multicellular organism mass", + "subdivision of tube", + "Abnormal lens morphology", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "abnormal digestive system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "abnormal respiratory system", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal incomplete closing of the anatomical entity", + "venous system", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Abnormal morphology of the great vessels", + "pectoral complex", + "abnormality of male reproductive system physiology", + "craniocervical region", + "Abnormality of cardiovascular system morphology", + "abnormal developmental process", + "gland", + "Abnormal cornea morphology", + "abnormal secondary palate morphology", + "tube", + "thoracic segment of trunk", + "pes bone", + "viscus", + "vertebral element", + "respiratory airway", "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", "Growth delay", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "Duodenal stenosis", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "abnormal intestine morphology", - "Abnormal duodenum morphology", - "Abnormality of the lower limb", - "abnormal digit morphology", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", + "kidney", + "Abnormality of the respiratory system", + "girdle skeleton", + "Hip dislocation", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "cornea", + "abdominal wall", "3-D shape anatomical entity", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "renal system", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the lower urinary tract", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "abnormal urethra", + "Abnormal male urethral meatus morphology", + "excretory system", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "Abnormality of prenatal development or birth", + "male urethra", + "Abdominal wall defect", "Almond-shaped palpebral fissure", + "head bone", "shape digit", "Clubbing", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "abnormal digit", - "abnormal pedal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "abnormal oral cavity morphology", - "Abnormal soft palate morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "Hernia of the abdominal wall", - "Abnormal palate morphology", + "cranial neuron projection bundle", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Short stature", + "Abnormality of the vertebral column", + "abnormal vertebral column", + "vertebral column", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", "Abnormal midface morphology", - "abnormal midface morphology", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "Neurodevelopmental delay", - "abnormal skin of body", - "Epicanthus", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Deviation of the 5th finger", + "regional part of brain", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Hearing impairment", + "abnormal neurocranium morphology", + "Decreased head circumference", + "Hematological neoplasm", + "abnormal immune system morphology", + "lobe of cerebral hemisphere", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "Leukopenia", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "Facial asymmetry", + "Abnormal leukocyte count", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "abnormally decreased number of leukocyte in the blood", + "semi-lunar valve", + "hematopoietic cell", + "motile cell", + "abnormal leg", + "nucleate cell", + "haemolymphatic fluid", + "systemic artery", + "delayed biological_process", + "decreased pigmentation in independent continuant", + "tissue development", + "delayed growth", + "Abnormality of vision", + "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", "Abnormality of the integument", - "abnormal cardiac valve morphology in the heart", + "abnormal size of brain ventricle", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "glandular system", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "abnormal hypothalamus-pituitary axis", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "abnormal anatomical entity topology in independent continuant", + "non-material anatomical boundary", + "Hypertelorism", + "abnormal anatomical entity length", + "increased anatomical entity length in independent continuant", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Renal insufficiency", + "late embryo", + "Cardiomyopathy", + "flat bone", "increased length of the anatomical entity", "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "ulna hypoplasia", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal integument", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "Cranial nerve paralysis", - "paralysed cranial nerve", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity, curved", + "anatomical line", + "immaterial anatomical entity", + "heart plus pericardium", + "gray matter of forebrain", + "Oligohydramnios", + "amniotic fluid", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "Abnormality of the autonomic nervous system", + "Absent testis", + "embryo", + "skeleton of lower jaw", + "abnormal small intestine", + "cavitated compound organ", + "Abnormal duodenum morphology", + "Azoospermia", + "Abnormal small intestine morphology", + "Ventricular septal defect", + "small intestine", + "duodenum", + "abnormal phalanx morphology", + "pes", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "pelvic appendage", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "digitopodium region", + "acropodium region", + "tube development", + "abnormal digit", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "skeleton of pedal digitopodium", + "leg", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "skeleton of pes", + "abnormal hindlimb morphology", + "Abnormal digit morphology", + "digit", + "Abnormality of the lower limb", + "3-D shape anatomical entity in independent continuant", + "shape forehead", + "posterior region of body", + "phalanx endochondral element", + "abnormal phalanx of pes morphology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "skeleton of digitopodium", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "individual digit of digitopodial skeleton", + "Choanal atresia", + "acropodial skeleton", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "phalanx", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "abnormal midface morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "abnormal oral cavity morphology", + "abnormal soft palate morphology", + "anatomical projection", + "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical cavity", + "palatine uvula", "Abnormal erythrocyte morphology", + "soft palate", + "Abnormal aortic valve morphology", + "midface", + "Abnormal soft palate morphology", + "Abnormal oral cavity morphology", + "Anemia", + "morphological feature", + "arterial blood vessel", + "anatomical structure development", + "Abnormality of skin morphology", + "abnormal cornea, curved", + "pigmentation", + "semen", + "abnormality of anatomical entity physiology", + "integumental system", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "integument", + "tracheobronchial tree", + "cerebral cortex", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "Abnormal ileum morphology", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal nerve", + "limb joint", + "Hyperpigmentation of the skin", + "increased biological_process in skin of body", + "increased pigmentation in independent continuant", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "independent continuant", + "abnormal pigmentation", + "abnormality of cranial nerve physiology", + "paralysed cranial nerve", + "vein", + "multi cell part structure", + "cranial nerve", + "Frontal bossing", + "nerve", + "Abnormal cranial nerve physiology", + "Cranial nerve paralysis", + "segment of manus", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "abnormal manus morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the extremities", + "circulatory system", + "Spina bifida", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "decreased pigmentation in skin of body", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "abnormal behavior process", "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", + "abnormal manus", + "skeleton of manus", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "anatomical space", "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "appendage", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", + "Clinodactyly of the 5th finger", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "Abnormality of bone mineral density", + "biogenic amine secreting cell", + "ossification", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the skeletal system", - "Deviation of finger", - "Abnormality of the eye", - "Finger clinodactyly", + "deviation of manual digit", + "manual digit 5", + "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "curved anatomical entity", - "decreased length of long bone", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "digit 1 or 5", + "trunk", + "manual digit 5 plus metapodial segment", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "deviation of digit towards the middle", + "Short forearm", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "forelimb zeugopod bone hypoplasia", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "Upper limb undergrowth", + "aplasia or hypoplasia of telencephalon", "decreased size of the anatomical entity in the independent continuant", + "abnormal incomplete closing of the interatrial septum", + "Decreased multicellular organism mass", + "intestine", "Aplasia/Hypoplasia of the ulna", - "bicornuate anatomical entity", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant", - ], - }, - { - "id": "MONDO:0009217", - "category": "biolink:Disease", - "name": "Fanconi-like syndrome", - "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", - "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], - "provided_by": "phenio_nodes", - "synonym": ["Fanconi-like syndrome"], - "namespace": "MONDO", - "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], - "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", - "Multiple bilateral pneumothoraces", - "Pancytopenia", - "Multiple cutaneous malignancies", - ], - "has_phenotype_count": 5, - "has_phenotype_closure": [ - "HP:0008069", - "UPHENO:0002635", - "UPHENO:0086173", - "HP:0011893", - "UPHENO:0086172", - "UPHENO:0088166", - "HP:0011875", - "UPHENO:0076703", - "HP:0005561", - "HP:0010987", - "UPHENO:0086049", - "UPHENO:0085070", - "UPHENO:0085984", - "HP:0020047", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0011498", - "HP:0001876", - "UPHENO:0085371", - "HP:0025354", - "HP:0032251", - "UPHENO:0004459", - "HP:0001881", - "HP:0025461", - "UPHENO:0063722", - "UPHENO:0087123", - "UPHENO:0076675", - "UPHENO:0085195", - "UPHENO:0087339", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0012145", - "UPHENO:0085344", - "HP:0001873", - "HP:0002107", - "HP:0005939", - "UPHENO:0006910", - "UPHENO:0085144", - "UPHENO:0081590", - "UPHENO:0020584", - "UPHENO:0080377", - "UPHENO:0077426", - "UPHENO:0075696", + "articular system", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "Spinal dysraphism", + "articulation", + "increased size of the brain ventricle", + "zone of organ", + "abnormal voluntary movement behavior", + "tissue", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "skeletal joint dislocation", + "abnormal synovial joint morphology", + "Ventriculomegaly", + "multicellular organism development", + "trunk bone", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "peripheral nervous system", + "abnormal hip joint morphology", + "Micrognathia", + "anatomical entity dislocation", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "Abnormal hip bone morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "stylopod", + "upper leg bone", + "abnormally localised anatomical entity", + "Abnormal heart morphology", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "abnormal limb bone", + "anatomical structure morphogenesis", + "dentary", + "femur endochondral element", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "autopodial skeleton", + "epithelium", + "presumptive structure", + "abnormal neural tube morphology", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "nervous system development", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "Aplasia/Hypoplasia of the cerebrum", + "tube closure", + "neural tube", + "developing anatomical structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "embryonic structure", + "abnormal palpebral fissure", + "abnormal tube formation", + "Neural tube defect", + "anatomical structure formation involved in morphogenesis", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "embryo development", + "Abnormal neural tube morphology", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal multicellular organismal reproductive process", + "system development", + "appendicular skeleton", + "spinal cord", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "ganglion of peripheral nervous system", + "abnormal autonomic nervous system morphology", + "conceptus", + "abnormal vertebra morphology", + "embryonic epithelial tube formation", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Vertebral arch anomaly", + "dorsum", + "abnormal bony vertebral centrum morphology", + "brain ventricle", + "future nervous system", + "abnormal olfactory system morphology", + "bony vertebral centrum", + "enteric ganglion", + "Unusual infection", + "abnormal enteric ganglion morphology", + "neurocranium bone", + "Abnormal autonomic nervous system morphology", + "parasympathetic nervous system", + "autonomic nervous system", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "Abnormality of enteric ganglion morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "embryonic tissue", + "ileum", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal respiratory system morphology", + "abnormally protruding anatomical entity", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal vault of skull", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + "membrane bone", + "cranial bone", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "female reproductive system", + "dermal skeleton", + ], + }, + { + "id": "MONDO:0009217", + "category": "biolink:Disease", + "name": "Fanconi-like syndrome", + "description": "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.", + "xref": ["DOID:0090066", "MESH:C536855", "OMIM:227850", "SCTID:236469003", "UMLS:C0151638"], + "provided_by": "phenio_nodes", + "synonym": ["Fanconi-like syndrome"], + "namespace": "MONDO", + "has_phenotype": ["HP:0002754", "HP:0002783", "HP:0005939", "HP:0001876", "HP:0007606"], + "has_phenotype_label": [ + "Osteomyelitis", + "Recurrent lower respiratory tract infections", + "Multiple bilateral pneumothoraces", + "Pancytopenia", + "Multiple cutaneous malignancies", + ], + "has_phenotype_count": 5, + "has_phenotype_closure": [ + "HP:0001574", + "HP:0007606", + "HP:0011793", + "UPHENO:0002635", + "HP:0002664", + "UBERON:0004121", + "UBERON:0002097", + "UBERON:0002199", + "UBERON:0002416", + "CL:0000738", + "UBERON:0002371", + "CL:0001035", + "UBERON:0002193", + "CL:0002242", + "CL:0000225", + "CL:0000255", + "CL:0000219", + "UPHENO:0086005", "UPHENO:0084928", - "UPHENO:0082875", - "BFO:0000001", + "CL:0000232", + "CL:0002092", + "UPHENO:0085068", + "UPHENO:0086045", + "HP:0001876", + "UPHENO:0085302", + "HP:0032251", + "UPHENO:0011498", + "HP:0025354", + "UPHENO:0076675", + "UPHENO:0006910", + "UPHENO:0086049", + "HP:0001872", + "UPHENO:0063722", + "HP:0011842", + "UPHENO:0087123", "UPHENO:0085118", - "HP:0002715", + "UPHENO:0086172", + "CL:0000763", + "CL:0000458", + "CL:0000151", + "HP:0011873", + "UPHENO:0084987", + "CL:0000233", + "UPHENO:0004459", + "UPHENO:0086173", + "UBERON:0000479", + "UPHENO:0085144", + "UPHENO:0085984", + "UPHENO:0085195", + "HP:0011875", + "UPHENO:0088166", + "UPHENO:0076703", + "CL:0000457", + "UPHENO:0085371", + "HP:0012145", + "HP:0005561", + "UPHENO:0087355", + "HP:0011893", + "HP:0020047", + "UPHENO:0077426", + "NCBITaxon:6072", + "UPHENO:0083263", + "UBERON:0000468", + "HP:0002754", + "UPHENO:0002964", + "HP:0010978", + "HP:0000951", + "HP:0012252", + "GO:0006952", + "UBERON:0001062", + "UPHENO:0080377", + "UBERON:0000042", + "UPHENO:0074624", + "BFO:0000040", + "UBERON:0015212", + "NCBITaxon:33154", + "UBERON:0010000", + "UPHENO:0080693", + "UPHENO:0074687", + "UPHENO:0001003", + "UPHENO:0001005", + "CL:0000329", + "UPHENO:0081590", + "HP:0012647", + "UPHENO:0003811", + "UPHENO:0082682", + "UBERON:0000061", + "UPHENO:0074685", + "UPHENO:0080221", + "UBERON:0000481", "UPHENO:0081440", - "UPHENO:0085302", - "UPHENO:0001001", - "HP:0002086", - "HP:0000001", + "UBERON:0000025", + "HP:0002715", + "UBERON:0004765", + "UBERON:0034923", + "BFO:0000020", "UPHENO:0001002", - "HP:0000924", - "UPHENO:0059829", - "HP:0011842", - "UPHENO:0002332", - "HP:0033127", + "HP:0000118", + "UBERON:0002390", + "GO:0006954", + "UBERON:0000064", + "CL:0000988", + "UBERON:0000465", + "UBERON:0000060", + "GO:0050896", + "HP:0012649", "UPHENO:0049584", - "UPHENO:0049586", - "UPHENO:0076684", - "BFO:0000002", + "UPHENO:0049587", + "UPHENO:0002948", "UPHENO:0049588", - "UPHENO:0002536", - "HP:0002783", - "HP:0002664", - "BFO:0000020", - "UPHENO:0001005", - "HP:0012647", - "UPHENO:0019970", + "UPHENO:0086908", + "UPHENO:0001001", "UPHENO:0002263", + "BFO:0000002", + "HP:0033127", + "UPHENO:0002332", + "UBERON:0000467", + "UBERON:0011216", + "UBERON:0002100", + "UPHENO:0059829", + "UBERON:0002405", + "NCBITaxon:2759", + "UBERON:0002204", + "BFO:0000015", + "HP:0008069", + "UBERON:0001474", + "HP:0005939", + "CL:0000000", + "UPHENO:0054970", + "UBERON:0000915", + "PATO:0000001", + "HP:0002719", + "UPHENO:0085344", + "HP:0001881", + "UBERON:0000065", + "HP:0002205", + "BFO:0000001", + "UPHENO:0080662", + "UBERON:0004120", + "BFO:0000004", + "UBERON:0001005", + "GO:0008150", + "CL:0000764", "UPHENO:0074572", - "UPHENO:0085068", + "NCBITaxon:1", + "UPHENO:0082875", + "UPHENO:0002536", "HP:0011843", "HP:0002088", - "HP:0011793", - "UPHENO:0080662", - "UPHENO:0002948", - "HP:0007606", - "HP:0012649", - "HP:0000118", - "UPHENO:0001003", - "HP:0000951", - "UPHENO:0074685", - "UPHENO:0080221", - "UPHENO:0084987", - "UPHENO:0049587", - "UPHENO:0074624", - "HP:0010978", - "HP:0002754", - "UPHENO:0002964", - "HP:0012252", - "HP:0001574", - "UPHENO:0082723", + "UBERON:0015203", + "UBERON:0005906", + "UBERON:0001434", + "UBERON:0002048", + "UBERON:0005177", + "UBERON:0003103", + "UBERON:0000171", + "UPHENO:0004536", + "HP:0002086", + "HP:0002783", + "UBERON:0005181", + "UPHENO:0085189", + "HP:0025461", + "NCBITaxon:33208", + "UBERON:0000077", + "UBERON:0002075", + "HP:0032101", + "HP:0001873", + "UPHENO:0019970", + "UBERON:0013702", "HP:0001871", - "UPHENO:0086045", - "UPHENO:0082682", - "UPHENO:0086908", - "UPHENO:0083263", - "UPHENO:0074687", - "UPHENO:0080693", - "UPHENO:0003811", + "UPHENO:0049586", + "UPHENO:0075696", "HP:0002103", - "HP:0032101", + "UBERON:0000475", + "UPHENO:0020748", + "UBERON:0000062", + "UBERON:0001004", + "UBERON:0013701", + "CL:0000081", + "UBERON:0009569", + "UPHENO:0085070", + "UPHENO:0076692", + "UPHENO:0087339", "UPHENO:0087433", "HP:0011947", - "HP:0001872", - "UPHENO:0076692", + "OBI:0100026", + "UPHENO:0020584", + "UPHENO:0076684", + "UBERON:0001558", + "HP:0000001", + "UBERON:0004111", + "UBERON:0005178", + "UPHENO:0082723", "UPHENO:0015280", - "PATO:0000001", - "UPHENO:0054970", - "HP:0002719", - "HP:0002205", - "UPHENO:0004536", - "UPHENO:0020748", + "UBERON:0034925", + "UBERON:0004119", + "UBERON:0000170", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0013522", + "BFO:0000003", + "PR:000050567", + "GO:0006950", + "NCBITaxon:131567", + "HP:0010987", + "HP:0000924", + "UBERON:0000977", + "HP:0002107", + "UBERON:0009778", ], "has_phenotype_closure_label": [ + "Neoplasm by anatomical site", "Multiple cutaneous malignancies", - "Abnormality of the integument", + "Neoplasm of the skin", + "Abnormality of the skin", "Neoplasm", - "abnormally decreased number of anatomical entity", - "abnormal immune system morphology", - "Abnormality of thrombocytes", - "abnormal integument", - "abnormal cell morphology", - "abnormal bone marrow cell", + "integumental system", + "skeletal element", + "bone marrow", + "oxygen accumulating cell", + "hemolymphoid system", + "nucleate cell", + "hematopoietic cell", + "cell", + "abnormal hematopoietic system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal hematopoietic cell morphology", + "secretory cell", + "Abnormal leukocyte count", + "abnormal cell", + "abnormal bone marrow morphology", + "abnormal platelet", + "abnormally decreased number of cell", + "bone element", + "abnormal myeloid cell morphology", + "serotonin secreting cell", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormal immune system morphology", + "bone cell", + "Abnormality of bone marrow cell morphology", + "Abnormal cellular immune system morphology", + "erythrocyte", + "bone marrow cell", + "platelet", + "abnormal bone marrow cell morphology", "abnormal number of anatomical enitites of type leukocyte", "Abnormality of blood and blood-forming tissues", - "Abnormal skeletal morphology", + "abnormal leukocyte morphology", "Pancytopenia", - "Abnormal cellular immune system morphology", - "abnormal skin of body", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal platelet", - "abnormal blood cell", - "Abnormal platelet morphology", - "abnormal skeletal system morphology", - "abnormal bone marrow morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal platelet count", - "abnormal bone marrow cell morphology", "Abnormal cellular phenotype", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type platelet", - "Abnormal cell morphology", - "abnormally decreased number of platelet", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type cell", + "leukocyte", "abnormal hematopoietic system", + "Abnormal platelet count", + "abnormal platelet morphology", + "material anatomical entity", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "motile cell", + "independent continuant", + "abnormally decreased number of anatomical entity", + "increased biological_process in independent continuant", + "changed biological_process rate in independent continuant", "entity", - "specifically dependent continuant", - "increased qualitatively inflammatory response in independent continuant", - "abnormal inflammatory response", - "Neoplasm by anatomical site", + "disconnected anatomical group", + "increased qualitatively biological_process in independent continuant", "Thrombocytopenia", - "quality", - "phenotype", - "Increased inflammatory response", - "phenotype by ontology source", - "Osteomyelitis", - "Multiple bilateral pneumothoraces", + "Abnormality of immune system physiology", + "viscus", + "abnormal inflammatory response", + "Abnormal inflammatory response", + "abnormal skeletal system morphology", "Abnormality of the musculoskeletal system", - "Abnormal lung morphology", - "Abnormal immune system morphology", + "Eukaryota", + "Abnormality of the integument", + "protein-containing material entity", "increased qualitatively biological_process", + "pleural sac", + "organ system subdivision", + "response to stress", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "material entity", + "biological_process", + "abnormal integument", + "abnormal biological_process", + "increased qualitatively inflammatory response", + "non-connected functional system", + "subdivision of tube", "abnormality of immune system physiology", - "abnormal myeloid cell morphology", - "increased inflammatory response in bone element", - "Abnormal musculoskeletal physiology", - "abnormal anatomical entity", - "abnormal immune system", - "abnormality of anatomical entity physiology", - "abnormal number of anatomical enitites of type anatomical entity", - "increased qualitatively response to stimulus", - "increased qualitatively biological_process in independent continuant", - "Abnormality of immune system physiology", - "Abnormality of the skin", + "multicellular organism", + "Abnormal myeloid cell morphology", + "changed biological_process rate", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "lateral structure", + "abnormal blood cell morphology", "Phenotypic abnormality", - "Recurrent respiratory infections", - "abnormal cell", - "abnormally decreased number of cell", - "Recurrent infections", - "abnormal hematopoietic system morphology", + "abnormal number of anatomical enitites of type cell", "increased inflammatory response in independent continuant", + "trunk", "abnormality of musculoskeletal system physiology", - "Abnormality of the immune system", - "continuant", - "abnormal respiratory system morphology", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal biological_process", - "Abnormality of bone marrow cell morphology", "increased inflammatory response", - "abnormal phenotype by ontology source", - "Abnormal inflammatory response", - "abnormal response to stress", - "All", - "Respiratory tract infection", + "tissue", + "continuant", + "skin of body", + "skeletal system", + "abnormal anatomical entity", + "occurrent", + "increased biological_process in bone element", + "Abnormal leukocyte morphology", + "response to stimulus", + "Abnormal skeletal morphology", "abnormal response to stimulus", - "abnormally decreased number of myeloid cell", - "abnormal blood cell morphology", - "increased biological_process", + "abnormal skin of body", + "Abnormal pleura morphology", + "musculoskeletal system", + "phenotype", + "abnormal phenotype by ontology source", "abnormal skeletal system", - "abnormal leukocyte morphology", - "abnormal pleura morphology", - "increased biological_process in independent continuant", - "changed biological_process rate in independent continuant", - "Abnormal myeloid cell morphology", - "increased biological_process in bone element", + "increased biological_process", + "hematopoietic system", "Abnormality of the skeletal system", - "abnormal biological_process in independent continuant", - "increased qualitatively inflammatory response", - "Unusual infection", - "Pneumothorax", + "increased qualitatively response to stimulus", + "anatomical structure", + "anatomical conduit", + "increased inflammatory response in bone element", + "abnormally decreased number of myeloid cell", + "compound organ", + "anatomical entity", + "Osteomyelitis", + "anucleate cell", + "phenotype by ontology source", + "Increased inflammatory response", + "quality", + "myeloid cell", + "abnormal cell morphology", + "immune system", + "root", + "inflammatory response", + "specifically dependent continuant", + "integument", + "eukaryotic cell", + "increased qualitatively inflammatory response in independent continuant", + "erythroid lineage cell", + "multicellular anatomical structure", + "anatomical system", + "Abnormality of thrombocytes", + "organ", + "organism", + "Respiratory tract infection", + "All", "abnormal lung morphology", - "changed biological_process rate", - "abnormal anatomical entity morphology", + "Abnormal lung morphology", + "abnormal anatomical entity morphology in the independent continuant", + "thoracic segment organ", + "anatomical collection", + "trunk region element", + "endoderm-derived structure", + "pair of lungs", + "blood cell", + "respiration organ", + "thoracic cavity element", "abnormal respiratory system", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal number of anatomical enitites of type anatomical entity", + "serous sac", + "Recurrent infections", + "organ part", + "Recurrent respiratory infections", + "respiratory system", + "Multiple bilateral pneumothoraces", + "respiratory airway", + "defense response", + "Eumetazoa", + "abnormal immune system morphology", + "Pneumothorax", + "tube", + "abnormal biological_process in independent continuant", + "Unusual infection", + "Abnormality of the immune system", + "multi-tissue structure", + "Metazoa", + "abnormal blood cell", + "abnormal response to stress", + "subdivision of trunk", "Abnormal respiratory system morphology", - "Abnormal leukocyte morphology", + "abnormal immune system", + "thoracic segment of trunk", + "abnormal respiratory system morphology", + "lung", + "subdivision of organism along main body axis", + "main body axis", + "abnormally decreased number of hematopoietic cell", + "serous membrane", "Abnormality of the respiratory system", - "abnormal platelet morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", "Recurrent lower respiratory tract infections", - "Abnormal pleura morphology", + "organism subdivision", + "respiratory tract", + "cellular organisms", + "Opisthokonta", + "body proper", + "abnormality of anatomical entity physiology", + "abnormal pleura morphology", + "lower respiratory tract", + "anatomical wall", + "mesoderm-derived structure", + "process", + "pleura", + "abnormal number of anatomical enitites of type myeloid cell", + "mixed endoderm/mesoderm-derived structure", + "abnormal bone marrow cell", + "Abnormal cell morphology", ], }, { @@ -2433,17 +3863,6 @@ def search_response(): "namespace": "MONDO", "has_phenotype_count": 0, }, - { - "id": "MONDO:0060779", - "category": "biolink:Disease", - "name": "acquired Fanconi syndrome", - "description": "Fanconi Syndrome caused by exposure to noxious agents.", - "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], - "provided_by": "phenio_nodes", - "synonym": ["acquired Fanconi syndrome"], - "namespace": "MONDO", - "has_phenotype_count": 0, - }, { "id": "MONDO:0001083", "category": "biolink:Disease", @@ -2473,527 +3892,1145 @@ def search_response(): "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.", - "xref": ["NCIT:C123229"], + "xref": ["NCIT:C123229", "Orphanet:3337"], "provided_by": "phenio_nodes", "synonym": ["FRTS1", "Fanconi renotubular syndrome 1", "primary Fanconi renotubular syndrome"], "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.", - "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], - "provided_by": "phenio_nodes", - "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:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", - "HP:0000093", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0000083", - "HP:0002150", + "HP:0002909", + "HP:0002049", ], "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", - "Renal insufficiency", - "Hypercalciuria", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", + "Hypophosphatemia", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", + "Glycosuria", + "Generalized aminoaciduria", + "Proximal renal tubular acidosis", ], - 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"Hypercalciuria", - "non-functional kidney", - "non-functional anatomical entity", - "Pain", - "Constitutional symptom", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "abnormal anatomical entity morphology in the independent continuant", - "Growth delay", - "Growth abnormality", - "Short stature", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "Abnormality of body height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of anatomical entity", - "increased level of chemical entity in blood serum", - "Alkalosis", - "Alkalemia", - "increased level of parathyroid hormone in independent continuant", - "Abnormality of acid-base homeostasis", - "Acute phase response", - "Azotemia", - "abnormal blood serum chemical entity level", - "abnormal acid bodily fluid level", - "Abnormal homeostasis", - "abnormal role blood serum level", - "increased level of parathyroid hormone in blood", - "Abnormal circulating protein concentration", - "abnormal blood nitrogen molecular entity level", - "abnormal blood parathyroid hormone level", - "Hyperproteinemia", - "increased blood serum role level", - "abnormal independent continuant parathyroid hormone level", - "increased bodily fluid base level", - "Elevated circulating parathyroid hormone level", - "increased level of glucose in urine", + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid", + "increased level of carboxylic acid in independent continuant", + "abnormal amino acid level", + "increased level of monosaccharide in urine", + "abnormal urine glucose level", + "increased level of glucose in independent continuant", + "amide", "abnormal independent continuant protein polypeptide chain level", - "abnormal vitamin metabolic process", - "abnormal independent continuant glucose level", - "increased level of lipid", - "abnormal independent continuant lipid level", - "abnormal hormone blood level", - "Glycosuria", - "abnormal lipid metabolic process", - "abnormal lipid level", - "Abnormal circulating metabolite concentration", - "increased level of carboxylic acid in urine", - "abnormal chemical homeostasis", - "abnormal independent continuant monoatomic ion level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal role urine level", - "Hypophosphatemia", - "abnormal independent continuant protein level", - "abnormal genitourinary system", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "Renal phosphate wasting", - "Abnormality of the urinary system physiology", "increased level of protein polypeptide chain in urine", - "increased blood role level", - "abnormal blood phosphate level", - "increased level of parathyroid hormone in blood serum", - "abnormal small molecule metabolic process", - "Abnormal bone ossification", - "abnormal multicellular organism chemical entity level", - "Osteomalacia", - "increased level of protein", - "abnormal anatomical entity morphology", - "decreased height of the multicellular organism", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "increased level of organic acid in independent continuant", - "abnormal primary metabolic process", - "abnormal urine phosphate level", - "Abnormal circulating calcium-phosphate regulating hormone concentration", + "organic amino compound", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "macromolecule", + "peptide", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "Hyperuricosuria", + "increased level of uric acid in urine", + "organic anion", + "polyatomic anion", + "oxide", + "abnormal independent continuant hydrogencarbonate level", + "abnormal hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Abnormality of urine bicarbonate level", + "anion", + "oxoanion", + "Abnormal urine pH", + "Pain", + "Constitutional symptom", + "carbon oxoanion", + "abnormality of musculoskeletal system physiology", + "s-block molecular entity", + "abnormal blood potassium atom level", + "monoatomic cation", + "Abnormal blood monovalent inorganic cation concentration", + "potassium molecular entity", + "abnormal monoatomic cation homeostasis", + "potassium(1+)", + "alkali metal molecular entity", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "inorganic ion", + "monoatomic cation homeostasis", + "monoatomic monocation", + "monovalent inorganic cation", + "abnormal blood potassium(1+) level", + "decreased level of potassium atom in blood", + "Abnormal blood cation concentration", + "potassium atom", + "abnormal potassium atom level", + "abnormal independent continuant potassium atom level", + "abnormal urine potassium atom level", + "cell", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "intracellular membrane-bounded organelle", + "carnitine metabolic process", + "abnormal amino acid derivative level", + "organelle", + "Abnormal circulating fatty-acid concentration", + "zwitterion", + "lipid metabolic process", + "cellular modified amino acid metabolic process", + "organic acid metabolic process", + "cellular lipid metabolic process", + "amino acid derivative", "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "abnormal hematopoietic system", - "increased level of protein in independent continuant", + "quaternary nitrogen compound", + "Hyperchloremic metabolic acidosis", + "onium betaine", + "intracellular organelle", + "membrane-bounded organelle", + "Generalized aminoaciduria", + "carboxamide", + "oxoacid metabolic process", + "amino-acid betaine metabolic process", + "hydrogencarbonate", + "fatty acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "abnormal carnitine metabolic process", + "abnormal independent continuant potassium(1+) level", + "organonitrogen compound", "increased level of nitrogen molecular entity in blood", - "abnormal amino acid level", + "Hypouricemia", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "abnormal blood uric acid level", + "Abnormal circulating nitrogen compound concentration", + "Hypokalemia", + "mitochondrion", + "Decreased circulating purine concentration", + "cyclic compound", + "organic molecule", + "amino acid", + "purine nucleobase metabolic process", "Abnormal urine protein level", - "abnormal homeostatic process", - "abnormal bone element mass density", - "abnormal blood protein polypeptide chain level", - "abnormal urine chemical entity level", - "Increased susceptibility to fractures", - "continuant", - "quality", - "Abnormal circulating hormone concentration", - "Reduced bone mineral density", - "abnormal independent continuant calcium atom level", - "Abnormal urine phosphate concentration", - "abnormal skeletal system", - "anatomical entity dysfunction in independent continuant", - "increased level of chemical entity", - "abnormal protein level", - "increased level of chemical entity in blood plasma", + "Abnormal circulating purine concentration", + "heterobicyclic compound", + "organic heterocyclic compound", + "nucleobase-containing compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "obsolete heterocycle metabolic process", + "small molecule metabolic process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular metabolic process", + "abnormal primary metabolic process", + "Abnormal circulating organic compound concentration", + "organonitrogen heterocyclic compound", + "organic heteropolycyclic compound", + "increased level of organic molecular entity in independent continuant", + "heteroarene", + "cation", + "decreased level of purines", + "abnormal blood nitrogen molecular entity level", + "elemental potassium", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", "increased level of nitrogen molecular entity in independent continuant", - "abnormal role bodily fluid level", - "decreased level of phosphate in blood", - "phenotype", + "molecule", + "nucleobase metabolic process", + "decreased level of potassium atom in independent continuant", + "purine-containing compound metabolic process", + "increased level of chemical entity in blood", + "decreased level of uric acid in blood", + "imidazopyrimidine", + "polycyclic compound", + "nitrogen molecular entity", + "aromatic compound", + "increased level of organic acid in urine", + "amino-acid betaine", + "cellular process", + "Hypophosphatemic rickets", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "decreased level of chemical entity in blood", + "Azotemia", + "decreased level of uric acid in independent continuant", + "abnormal blood monoatomic ion level", + "organic cyclic compound metabolic process", + "ion", + "primary amide", + "elemental molecular entity", + "inorganic ion homeostasis", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "monoatomic ion", + "phosphate ion homeostasis", + "Abnormal blood ion concentration", + "sodium atom", + "abnormal independent continuant sodium atom level", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormal urine sodium concentration", + "Abnormal urine potassium concentration", + "alkali metal atom", + "organooxygen compound", + "renal tubule", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "carbohydrates and carbohydrate derivatives", + "increased independent continuant acid level", + "chemical entity", + "epithelium", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "increased independent continuant role level", + "Renal tubular dysfunction", "increased independent continuant base level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "dipolar compound", + "muscle organ", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "cellular_component", + "bicyclic compound", + "decreased muscle organ strength", + "decreased role blood level", + "musculature", + "polypeptide", + "organic ion", "Abnormality of bone mineral density", - "Abnormality of the urinary system", - "increased level of protein in blood", - "Phenotypic abnormality", - "increased level of calcium atom in independent continuant", + "anatomical structure", + "anatomical conduit", + "increased level of chemical entity in independent continuant", + "carbohydrate homeostasis", + "abdominal segment of trunk", + "musculature of body", + "abnormal calcium atom level", + "decreased anatomical entity strength", "Bone pain", - "Abnormality of urine homeostasis", - "abnormal phosphate level", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "abnormality of renal system physiology", - "increased level of monosaccharide in urine", - "Abnormal skeletal morphology", - "abnormal hormone independent continuant level", - "increased level of lipid in independent continuant", - "abnormal phenotype by ontology source", - "abnormally decreased functionality of the nephron tubule", - "abnormality of anatomical entity physiology", - "decreased size of the multicellular organism", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "Abnormality of urine calcium concentration", - "abnormal anatomical entity mass density", - "Hyperlipidemia", - "abnormal vitamin D level", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal renal system", "Abnormality of the upper urinary tract", - "decreased level of chemical entity in blood", + "decreased anatomical entity mass", + "Proximal renal tubular acidosis", + "abdomen", + "heteropolycyclic compound", + "growth", "phenotype by ontology source", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "hydrogen molecular entity", + "nephron tubule", + "Abnormality of body weight", + "Growth abnormality", + "nephron epithelium", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "phosphorus molecular entity", + "abnormal independent continuant monoatomic ion level", + "excretory system", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "abnormal chemical entity level", + "polyatomic entity", + "Abnormal urine carboxylic acid level", "decreased level of chemical entity", - "Abnormality of blood and blood-forming tissues", - "Abnormal blood phosphate concentration", - "Abnormal glomerular filtration rate", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "increased level of calcium atom in urine", + "abnormal phosphate level", + "calcium atom", + "uriniferous tubule", + "cytoplasm", + "carnitine", + "musculoskeletal system", + "abnormal upper urinary tract", + "main group molecular entity", "abnormality of kidney physiology", - "abnormal kidney", - "Proximal tubulopathy", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "entity", - "abnormal blood lipid level", - "Abnormal renal physiology", - "abnormally decreased functionality of the anatomical entity", - "increased level of amino acid in independent continuant", + "increased level of calcium atom in urine", + "Renal insufficiency", + "polyatomic ion", + "cytoplasmic region", + "Dehydration", + "abnormal role blood level", + "aldohexose", + "cellular anatomical entity", + "Renal phosphate wasting", "abnormal phosphate ion homeostasis", - "increased level of vitamin D", - "Proteinuria", - "abnormal upper urinary tract", - "increased blood serum base level", - "Abnormality of the kidney", - "Renal tubular dysfunction", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal musculoskeletal physiology", - "abnormality of musculoskeletal system physiology", + "Abnormality of the musculoskeletal system", + "obsolete monovalent inorganic cation homeostasis", + "pnictogen molecular entity", + "homeostatic process", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "organochalcogen compound", + "anatomical collection", "All", - "Recurrent fractures", - "Rickets", - "Renal insufficiency", - "High serum calcitriol", - "abnormal role blood level", - "abnormal monoatomic ion homeostasis", + "abnormal lung morphology", + "material entity", + "upper urinary tract", + "Abnormality of urine homeostasis", + "organic acid", + "ammonium betaine", + "Abnormal circulating metabolite concentration", + "ossification", + "decreased role independent continuant level", + "increased level of calcium atom in independent continuant", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "Aciduria", + "Abnormality of the urinary system", + "abnormal anatomical entity", + "nephron", + "protein polypeptide chain", + "Abnormal circulating nucleobase concentration", + "continuant", + "tissue", "Abnormality of metabolism/homeostasis", - "Osteopenia", - "Abnormality of vitamin D metabolism", - "Aminoaciduria", - "increased level of lipid in blood", - "Abnormal circulating organic compound concentration", - "abnormal vitamin D metabolic process", - "increased independent continuant hormone level", - "abnormal urine amino acid level", - "specifically dependent continuant", + "anatomical entity fibrosis", + "entity", + "Decreased bone element mass density", + "anatomical entity", + "decreased level of phosphate in independent continuant", + "Abnormal skeletal morphology", + "alkaline earth metal atom", + "heterocyclic compound", + "skeletal system", + "abnormal biological_process", + "abnormal role bodily fluid level", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "nucleobase-containing small molecule metabolic process", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "alkali metal cation", + "abnormal multicellular organism chemical entity level", + "phosphate", + "abnormal small molecule metabolic process", + "abnormal renal system", + "abnormality of anatomical entity mass", + "Decreased body weight", + "genitourinary system", + "atom", + "abnormal bone element mass density", + "Rickets", + "hemolymphoid system", + "obsolete cellular aromatic compound metabolic process", + "abnormal blood phosphate level", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "multicellular anatomical structure", + "inorganic cation", + "Abnormal cellular physiology", + "organic substance metabolic process", + "increased level of chemical entity", + "p-block molecular entity", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", "abnormal metabolite independent continuant level", - "increased level of carboxylic acid in independent continuant", - "increased level of calcitriol in independent continuant", - "increased independent continuant role level", - "abnormal endocrine system", - "abnormal independent continuant carboxylic acid level", - "abnormal blood plasma chemical entity level", - "increased bodily fluid role level", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "obsolete cell", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "non-functional kidney", + "bone element", + "Bicarbonate-wasting renal tubular acidosis", + "organism substance", + "Glycosuria", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "Abnormal bone ossification", + "increased level of potassium atom in urine", + "blood", + "phenotype", + "oxopurine", + "renal system", + "process", + "metal cation", "abnormal role independent continuant level", - "increased level of organic molecular entity in independent continuant", + "abnormal growth", + "independent continuant", + "abnormality of muscle organ physiology", + "Growth delay", + "abnormal purine nucleobase metabolic process", + "purines", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "oxoacid derivative", + "trunk", + "abnormal urine phosphate level", + "bodily fluid", + "Abnormal glucose homeostasis", + "muscle structure", + "material anatomical entity", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "occurrent", + "organ", + "Hyperchloremic acidosis", + "organic cyclic compound", + "Abnormal bone structure", + "organic heterobicyclic compound", + "abnormal independent continuant carbohydrate level", + "skeletal element", + "cavitated compound organ", + "kidney", + "Weight loss", + "chalcogen molecular entity", + "Abnormal renal physiology", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "carbon group molecular entity", + "Decreased anatomical entity mass density", + "main group element atom", + "metabolic process", + "increased level of purines in independent continuant", + "intracellular anatomical structure", + "heteroatomic molecular entity", + "organic oxo compound", + "abnormal metabolic process", + "excreta", + "abnormal acid bodily fluid level", + "organism subdivision", + "respiratory tract", + "excretory tube", + "abdomen element", + "Acidosis", + "lateral structure", + "trunk region element", + "tube", + "organic aromatic compound", + "Abnormality of acid-base homeostasis", + "Metabolic acidosis", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", "abnormal urine calcium atom level", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", - "Decreased glomerular filtration rate", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", - "increased level of organic acid in urine", - "increased level of glucose in independent continuant", - "Abnormal urine carboxylic acid level", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "subdivision of organism along main body axis", + "glucose", + "aldose", + "main body axis", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "carboxylic acid metabolic process", "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", + "abnormal cell", "increased level of chemical entity in urine", + "abnormal kidney", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "increased level of glucose in urine", + "body proper", + "oxoacid", + "Osteomalacia", + "delayed biological_process", + "delayed growth", + "abnormal sodium atom level", + "thoracic segment organ", + "non-functional anatomical entity", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "Hypercalciuria", + "uric acid", + "metal atom", + "Decreased anatomical entity mass", + "s-block element atom", + "abnormal regulation of body fluid levels", + "abnormal nucleobase metabolic process", "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "abnormal calcium atom level", - "Generalized aminoaciduria", - "increased independent continuant acid level", - "Aciduria", - "increased level of calcitriol in blood", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "Abnormal metabolism", - "abnormal metabolic process", - "Abnormal circulating lipid concentration", - "Abnormality of vitamin metabolism", - "Abnormality of the endocrine system", + "Abnormality of the skeletal system", + "lung", + "Abnormality of fluid regulation", + "oxygen molecular entity", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "abnormality of multicellular organism mass", + "subdivision of tube", + "glucose homeostasis", + "monosaccharide", + "abnormal anatomical entity morphology in the independent continuant", + "endoderm-derived structure", + "regulation of biological quality", + "pair of lungs", + "biological_process", + "increased bodily fluid role level", + "carbohydrate", + "hematopoietic system", + "multicellular organism", + "thoracic cavity element", + "abnormal cellular metabolic process", + "regulation of body fluid levels", + "abnormal respiratory system", + "epithelial tube", + "respiratory system", + "respiratory airway", + "Bicarbonaturia", + "increased bodily fluid acid level", + "respiration organ", + "lung fibrosis", + "monocarboxylic acid metabolic process", + "viscus", + "abnormal respiratory system morphology", + "abnormal urine sodium atom level", + "lower respiratory tract", + "biological regulation", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "Abnormal urine metabolite level", + "decreased level of amino-acid betaine", + "abnormal carbohydrate homeostasis", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "organonitrogen compound metabolic process", + "Abnormal blood glucose concentration", + "abnormal monocarboxylic acid metabolic process", + "chemical homeostasis", + "organic molecular entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "abnormal independent continuant glucose level", + "hexose", + "heteroorganic entity", ], }, + { + "id": "MONDO:0060779", + "category": "biolink:Disease", + "name": "acquired Fanconi syndrome", + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "xref": ["NCIT:C78296", "SCTID:236467001", "UMLS:C0341702"], + "provided_by": "phenio_nodes", + "synonym": ["acquired Fanconi syndrome"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, { "id": "MONDO:0014275", "category": "biolink:Disease", @@ -3037,1142 +5074,1554 @@ def search_response(): ], "has_phenotype_count": 11, "has_phenotype_closure": [ - "UPHENO:0051801", "UPHENO:0068565", + "UPHENO:0051801", + "UPHENO:0068247", + "CHEBI:16541", + "CHEBI:15841", + "HP:0000093", + "CHEBI:16670", + "UPHENO:0051930", + "CHEBI:36586", "UPHENO:0068169", - "HP:0032943", - "HP:0001992", - "UPHENO:0068144", - "UPHENO:0046286", - "UPHENO:0051670", - "HP:0040156", + "CHEBI:36587", + "CHEBI:24651", + "UPHENO:0068091", "HP:0031980", + "UPHENO:0051670", + "CHEBI:50047", + "CHEBI:33575", "HP:0012072", + "HP:0032943", "UPHENO:0068495", - "UPHENO:0012541", - "HP:0000002", + "CHEBI:33709", + "HP:0003355", + "UPHENO:0046286", + "UPHENO:0081424", + "UPHENO:0069254", "UPHENO:0068971", "UPHENO:0075159", - "UPHENO:0081424", - "HP:0020129", - "UPHENO:0002803", + "UBERON:0000489", "HP:0012211", - "UPHENO:0069254", + "UBERON:0009569", + "UBERON:0013701", + "UBERON:0011676", + "UBERON:0005173", + "UBERON:0000916", "UPHENO:0075902", - "UPHENO:0086128", - "HP:0010935", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0075195", + "UPHENO:0086132", + "UPHENO:0052116", + "CHEBI:18133", + "CHEBI:17234", + "CHEBI:15693", + "UPHENO:0081544", + "CHEBI:35381", "HP:0000077", - "HP:0000083", - "HP:0003076", - "UPHENO:0080659", - "UPHENO:0080658", + "CHEBI:78616", + "CHEBI:33674", "UPHENO:0068058", - "UPHENO:0075195", - "HP:0033354", - "UPHENO:0051635", - "UPHENO:0051640", - "UPHENO:0079873", - "UPHENO:0076727", - "UPHENO:0081423", - "UPHENO:0082449", - "UPHENO:0041226", - "UPHENO:0020041", - "UPHENO:0075952", + "UBERON:0005055", + "CHEBI:32988", + "UPHENO:0002411", + "HP:0002981", + "CHEBI:35352", + "UBERON:0002193", + "CHEBI:33675", + "UPHENO:0076740", + "UPHENO:0082467", + "UPHENO:0079534", + "CHEBI:50860", + "CHEBI:33661", + "UPHENO:0001002", "UPHENO:0068064", - "HP:0002157", - "HP:0012100", - "HP:0002748", - "UPHENO:0077821", - "HP:0011277", - "UPHENO:0086956", - "UPHENO:0051630", - "UPHENO:0076285", - "UPHENO:0068251", - "UPHENO:0082543", - "UPHENO:0002411", - "UPHENO:0082536", - "UPHENO:0068091", - "HP:0032180", + "CHEBI:72695", + "GO:0008150", + "UPHENO:0077826", + "BFO:0000004", + "UPHENO:0051753", + "UPHENO:0068346", + "UPHENO:0051635", + "UBERON:0001977", + "HP:0004364", + "UPHENO:0078550", + "HP:0430071", + "BFO:0000020", + "UPHENO:0068491", + "UPHENO:0012541", + "CHEBI:36360", + "UPHENO:0051640", + "UPHENO:0081546", + "HP:0004360", + "CHEBI:51143", + "UPHENO:0068049", + "GO:0008152", + "CHEBI:36962", + "UPHENO:0002830", "UPHENO:0080351", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0004459", "UPHENO:0076286", - "UPHENO:0079534", - "UPHENO:0051894", - "HP:0003259", + "HP:0000002", + "HP:0033354", + "HP:0002157", + "CHEBI:55370", + "UBERON:8450002", + "CHEBI:38261", + "UPHENO:0082542", + "HP:0000119", + "PR:000050567", + "BFO:0000003", "UPHENO:0051763", - "UPHENO:0003070", - "UPHENO:0068190", - "UPHENO:0041258", - "UPHENO:0051847", - "UPHENO:0049874", - "UPHENO:0068491", + "CHEBI:33302", + "CHEBI:33256", + "CHEBI:23443", + "CHEBI:24532", + "CHEBI:37622", + "UPHENO:0001001", + "CHEBI:16646", + "CHEBI:38304", + "UPHENO:0076703", + "CHEBI:38101", + "UPHENO:0081550", + "UPHENO:0041573", + "UPHENO:0086956", + "UPHENO:0077821", + "CHEBI:36357", + "UPHENO:0051894", + "CHEBI:23367", + "HP:0003076", "UPHENO:0000543", - "UPHENO:0068049", + "UPHENO:0041098", + "UBERON:0004709", + "HP:0011844", + "UPHENO:0051686", + "UPHENO:0001005", + "CHEBI:33832", + "UBERON:0000468", + "HP:0012100", + "CHEBI:24431", + "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0081547", + "CHEBI:33595", + "UPHENO:0068442", + "CHEBI:36963", + "UPHENO:0000541", + "HP:0012337", + "UPHENO:0082536", + "HP:0032180", + "HP:0001992", + "UBERON:0002390", + "UBERON:0010000", "UPHENO:0068089", - "HP:0001942", - "HP:0001507", - "UPHENO:0031193", - "HP:0000118", - "UPHENO:0001001", - "UPHENO:0082538", "UPHENO:0082539", + "UBERON:0004120", + "UPHENO:0068538", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0068144", + "UBERON:0010707", + "HP:0040064", "BFO:0000001", - "UPHENO:0000541", - "UPHENO:0052116", - "UPHENO:0051668", - "HP:0000924", + "CHEBI:33285", + "CHEBI:25367", + "UPHENO:0076727", + "UPHENO:0079873", + "UPHENO:0001003", + "HP:0006487", + "UPHENO:0076692", "UPHENO:0002536", - "HP:0012337", - "UPHENO:0078550", - "HP:0004364", - "UPHENO:0076289", - "UPHENO:0051753", - "UPHENO:0068346", - "HP:0003126", - "HP:0001871", - "UPHENO:0075696", - "BFO:0000002", - "HP:0003110", - "UPHENO:0001005", - "UPHENO:0051686", - "UPHENO:0079536", - "BFO:0000020", - "HP:0430071", - "UPHENO:0001002", - "HP:0000940", - "UPHENO:0081546", - "HP:0004360", + "UBERON:0010363", + "HP:0001942", + "HP:0000118", + "UBERON:0000178", + "GO:0040007", + "UPHENO:0031193", "HP:0001941", - "UPHENO:0001003", - "HP:0000001", - "HP:0004348", - "UPHENO:0051900", - "UPHENO:0041573", - "UPHENO:0081550", "UPHENO:0051804", - "HP:0001939", - "UPHENO:0077858", - "UPHENO:0068247", - "UPHENO:0077826", - "UPHENO:0002332", - "HP:0012599", - "UPHENO:0041610", - "HP:0033127", - "HP:0011842", + "UPHENO:0082538", + "UBERON:0004769", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0048707", + "HP:0011849", + "CHEBI:36359", + "HP:0003110", + "CHEBI:5686", + "BFO:0000002", + "UBERON:0001062", + "CHEBI:25693", + "UBERON:0000061", + "HP:0000001", + "BFO:0000015", + "HP:0001871", + "CHEBI:16737", + "UPHENO:0076289", + "UPHENO:0081547", + "BFO:0000040", + "UPHENO:0082834", + "HP:0004349", + "UBERON:0006314", "UPHENO:0046284", + "UBERON:0003103", "UPHENO:0068110", - "UPHENO:0086628", - "HP:0004322", - "UPHENO:0068054", + "HP:0001510", + "HP:0003109", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "UBERON:0002417", + "UPHENO:0082129", + "HP:0001939", + "UPHENO:0049874", + "UBERON:0003823", + "UBERON:0000465", + "CHEBI:33582", + "UBERON:0011216", + "UBERON:0005172", "UPHENO:0052038", - "UPHENO:0082875", - "UPHENO:0082542", - "UPHENO:0015280", - "UPHENO:0002642", + "UBERON:0001969", + "CHEBI:64709", + "UPHENO:0079536", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:24995", + "CHEBI:33670", "PATO:0000001", "UPHENO:0002442", - "UPHENO:0081544", + "UBERON:0000978", + "UBERON:0011249", + "UPHENO:0051739", + "UPHENO:0051900", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "HP:0020129", "UPHENO:0046348", - "HP:0000079", - "UPHENO:0086132", + "UBERON:0005177", + "UPHENO:0051847", + "UPHENO:0041258", + "UPHENO:0084763", "UPHENO:0068352", - "HP:0040068", - "HP:0011314", - "HP:0003330", - "HP:0000093", - "UPHENO:0080352", - "UPHENO:0068442", - "UPHENO:0076692", - "UPHENO:0068040", - "UPHENO:0082835", + "UPHENO:0078554", + "UPHENO:0002332", "UPHENO:0068292", "UPHENO:0084654", - "UPHENO:0081548", - "UPHENO:0076703", + "HP:0010935", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:26082", + "HP:0011277", + "HP:0012599", + "CHEBI:33241", + "UPHENO:0081423", + "UPHENO:0002642", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "UBERON:0001088", "UPHENO:0084653", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0002896", - "UPHENO:0031310", - "HP:0000119", - "UPHENO:0002964", - "UPHENO:0041591", - "UPHENO:0082834", - "HP:0004349", - "UPHENO:0048707", - "HP:0011849", + "HP:0000083", + "GO:0032501", + "HP:0003330", + "UBERON:0000062", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0004708", + "UPHENO:0082835", + "UBERON:0002204", + "UPHENO:0068054", + "UPHENO:0020041", + "HP:0004348", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0068251", + "UBERON:0004288", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0041610", + "UBERON:0001434", + "UBERON:0002103", + "UBERON:0000075", "UPHENO:0041536", - "UPHENO:0078554", - "UPHENO:0076740", - "UPHENO:0082467", - "UPHENO:0002830", - "HP:0011844", - "UPHENO:0068472", - "UPHENO:0041098", - "HP:0002814", - "UPHENO:0080300", - "HP:0006487", - "HP:0001510", + "UBERON:0002529", + "UPHENO:0077858", + "UPHENO:0076285", + "UBERON:0015212", + "UBERON:0010538", + "UBERON:0006058", + "UPHENO:0068040", + "UBERON:0008784", "HP:0002979", - "UPHENO:0051739", + "UPHENO:0082543", + "UBERON:0002471", + "UPHENO:0075952", + "HP:0040068", + "RO:0002577", + "UBERON:0000475", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", "UPHENO:0084767", + "UBERON:0000064", + "UPHENO:0068472", + "UBERON:0000154", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "HP:0033127", "UPHENO:0086635", - "HP:0002981", + "UPHENO:0051630", + "UPHENO:0068190", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UBERON:0013702", + "CHEBI:33304", + "HP:0002813", + "UPHENO:0031310", + "UPHENO:0020584", + "UBERON:0005913", + "UPHENO:0004459", + "UBERON:0002428", + "UBERON:0010709", + "HP:0002814", "UPHENO:0086780", - "UPHENO:0002832", - "UPHENO:0084763", - "UPHENO:0068538", - "HP:0040064", - "HP:0003109", - "HP:0012591", - "UPHENO:0082129", - ], - "has_phenotype_closure_label": [ - "abnormal independent continuant protein polypeptide chain level", - "Abnormal urine protein level", - "Aciduria", - "increased level of amino acid in independent continuant", - "increased level of carboxylic acid in urine", - "increased level of organic acid in urine", + "HP:0011314", + "HP:0003259", + "UBERON:0010758", + "UBERON:0004381", + "UBERON:0010740", + "UPHENO:0080658", + "UBERON:0002495", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0086628", + "CHEBI:25806", + "UPHENO:0082449", + "UPHENO:0003070", + "UPHENO:0041226", + "CHEBI:33608", + "HP:0000940", + "GO:0042592", + "UBERON:0034925", + "UBERON:0011582", + "UBERON:0010912", + "HP:0004322", + "UBERON:0015061", + "CHEBI:33917", + "UBERON:0004375", + ], + "has_phenotype_closure_label": [ + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "macromolecule", + "peptide", + "Abnormal urine pH", "increased independent continuant base level", - "Organic aciduria", - "abnormal independent continuant carboxylic acid level", - "Aminoaciduria", "increased level of organic acid in independent continuant", - "Short stature", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", + "hydroxides", + "increased level of organic acid in urine", + "increased level of amino acid in urine", + "carbon oxoacid", + "carbonyl compound", + "hydrogen molecular entity", + "organic amino compound", + "carboxylic acid", + "abnormal urine amino acid level", + "abnormal independent continuant amino acid level", + "increased level of amino acid in independent continuant", + "amino acid", + "increased level of carboxylic acid in independent continuant", "decreased size of the anatomical entity in the independent continuant", + "Short stature", + "decreased height of the multicellular organism", + "abnormal amino acid level", "abnormal size of anatomical entity", + "Abnormality of body height", + "abnormal kidney", + "main body axis", + "subdivision of organism along main body axis", + "trunk", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", "Abnormality of the kidney", + "Renal insufficiency", + "trunk region element", + "non-functional kidney", "non-functional anatomical entity", - "Proteinuria", - "abnormal upper urinary tract", - "abnormal kidney", - "abnormal independent continuant glucose level", - "abnormal role urine level", + "abdomen element", + "cavitated compound organ", + "kidney", + "Abnormal urine metabolite level", + "body proper", "increased level of glucose in urine", - "Abnormal urine carboxylic acid level", - "increased level of glucose in independent continuant", - "abnormal limb bone morphology", - "shape long bone", - "increased level of carboxylic acid in independent continuant", - "Abnormal diaphysis morphology", - "Abnormal renal physiology", - "curved anatomical entity", - "Abnormal circulating metabolite concentration", - "increased level of protein polypeptide chain in urine", - "increased blood role level", - "Growth abnormality", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "increased blood serum role level", - "All", - "phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic system", - "increased level of protein polypeptide chain in independent continuant", + "hexose", + "aldose", + "glucose", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", "abnormal urine glucose level", - "entity", - "abnormal role blood serum level", - "abnormal bone element mass density", - "abnormal amino acid level", + "carbohydrates and carbohydrate derivatives", + "monosaccharide", + "increased level of phosphate in independent continuant", + "abnormal skeletal system", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "abnormality of anatomical entity physiology", + "compound organ", + "phosphorus oxoacids and derivatives", + "organooxygen compound", + "upper urinary tract", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "abnormality of kidney physiology", + "main group molecular entity", + "hindlimb", "increased level of nitrogen molecular entity in blood", - "abnormal limb bone", - "Abnormal bone ossification", - "abnormal phenotype by ontology source", - "Growth delay", - "increased independent continuant role level", - "abnormal biological_process", - "abnormal chemical entity level", - "Low-molecular-weight proteinuria", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "abnormal multicellular organism chemical entity level", + "abnormal blood chemical entity level", + "imidazolidines", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "Azotemia", + "anatomical system", + "abnormal independent continuant carbohydrate level", + "organic molecule", + "oxygen molecular entity", + "organic molecular entity", + "increased level of creatinine in independent continuant", + "primary amide", + "hematopoietic system", + "multicellular organism", + "haemolymphatic fluid", + "heteromonocyclic compound", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "Abnormal circulating creatinine concentration", + "increased level of chemical entity", + "organonitrogen heterocyclic compound", "abnormal shape of continuant", - "abnormal independent continuant creatinine level", + "abnormal blood nitrogen molecular entity level", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "imidazolidinone", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "creatinine", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", "Elevated circulating creatinine concentration", - "increased level of chemical entity", - "Abnormal circulating creatinine concentration", - "Abnormal urine metabolite level", - "increased level of creatinine in blood", - "increased bodily fluid acid level", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "Abnormality of acid-base homeostasis", - "Glycosuria", - "Abnormality of the calf", - "delayed growth", - "Azotemia", + "abnormal independent continuant creatinine level", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal blood serum chemical entity level", + "curved long bone", + "cyclic amide", + "paired limb/fin segment", + "pnictogen molecular entity", + "molecule", "abnormal independent continuant nitrogen molecular entity level", "abnormal anatomical entity", - "increased level of organic molecular entity in independent continuant", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "abnormal acid bodily fluid level", - "Abnormality of the urinary system physiology", - "Acidosis", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of chemical entity in blood plasma", - "abnormal hindlimb morphology", - "abnormal genitourinary system", - "shape anatomical entity", - "Abnormality of urine homeostasis", - "increased level of creatinine in independent continuant", - "delayed biological_process", + "increased level of chemical entity in blood", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "Metabolic acidosis", + "phenotype by ontology source", + "growth", + "abnormal role independent continuant level", + "process", + "abnormal blood plasma chemical entity level", + "chemical entity", + "increased independent continuant acid level", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "decreased size of the anatomical entity", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "Abnormal circulating nitrogen compound concentration", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "increased blood serum role level", + "delayed growth", + "multi-limb segment region", + "bodily fluid", + "abnormal urine phosphate level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "independent continuant", + "abnormal growth", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "phosphorus oxoacid derivative", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "anatomical structure", + "polypeptide", + "abnormal limb", "Abnormality of bone mineral density", "Bowing of the long bones", + "abnormal acid bodily fluid level", + "organic oxo compound", + "excreta", + "abnormal blood creatinine level", + "organic heterocyclic compound", + "organism subdivision", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", + "abnormal hindlimb zeugopod", + "protein polypeptide chain", "continuant", + "abnormal acid independent continuant level", + "organic heteromonocyclic compound", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "Acidosis", + "material entity", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "subdivision of skeletal system", + "entity", + "Abnormal circulating organic compound concentration", "phenotype", - "Reduced bone mineral density", - "abnormal blood creatinine level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "Decreased anatomical entity mass density", - "abnormal metabolite independent continuant level", - "specifically dependent continuant", - "abnormal role bodily fluid level", - "abnormal blood plasma chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "Metabolic acidosis", - "increased independent continuant acid level", - "Renal insufficiency", + "Abnormal bone structure", + "organic cyclic compound", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "blood serum", + "increased level of chemical entity in independent continuant", + "Abnormality of acid-base homeostasis", + "anatomical entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "increased bodily fluid acid level", + "increased level of creatinine in blood", + "appendage", + "organonitrogen compound", + "cyclic compound", + "abnormal bone element mass density", + "posterior region of body", + "multicellular anatomical structure", + "metabolic process", + "carboxamide", + "endochondral element", + "organ", + "occurrent", + "appendicular skeleton", "Abnormality of metabolism/homeostasis", "abnormal role blood level", - "abnormal blood nitrogen molecular entity level", - "Abnormal homeostasis", - "Bowing of the legs", - "increased level of creatinine in blood serum", - "abnormal anatomical entity morphology", - "abnormal diaphysis morphology", - "increased level of chemical entity in blood serum", + "increased blood role level", + "leg", + "Growth abnormality", + "polyatomic entity", + "abnormal role bodily fluid level", + "abnormal biological_process", + "blood plasma", + "long bone", + "monocyclic compound", + "material anatomical entity", + "increased independent continuant role level", + "lactam", + "renal system", + "abnormal renal system", "abnormal urine chemical entity level", - "abnormality of anatomical entity physiology", - "decreased size of the multicellular organism", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "Abnormal urine phosphate concentration", + "Aciduria", + "Abnormality of the urinary system", + "abnormal multicellular organism chemical entity level", + "phosphate", "quality", - "abnormal anatomical entity morphology in the pelvic complex", - "increased level of amino acid in urine", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", + "abnormality of renal system physiology", + "phosphoric acid derivative", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", "abnormal phosphate level", - "abnormal long bone morphology", - "Elevated urinary carboxylic acid", - "abnormal leg", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormality of the skeletal system", + "Bowing of the legs", "abnormal independent continuant phosphate level", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "abnormal leg", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "excretory system", + "genitourinary system", + "oxoacid derivative", "increased level of phosphate in urine", - "Phenotypic abnormality", - "Hyperphosphaturia", - "abnormal limb", - "increased level of chemical entity in blood", - "Abnormal urinary electrolyte concentration", - "abnormality of renal system physiology", - "increased level of monosaccharide in urine", + "Abnormality of the urinary system physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "zone of bone organ", + "multicellular organismal process", + "organ part", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "heterocyclic compound", + "skeletal system", + "specifically dependent continuant", + "abnormal anatomical entity morphology", "Abnormal skeletal morphology", - "abnormal urine phosphate level", - "Abnormality of the urinary system", + "Decreased anatomical entity mass density", "abnormal anatomical entity mass density", - "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "decreased height of the multicellular organism", + "Proteinuria", + "protein-containing material entity", "abnormal skeletal system morphology", "Abnormality of the musculoskeletal system", - "abnormal hindlimb zeugopod, curved", - "Rickets", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", + "abnormal upper urinary tract", "curvature anatomical entity", - "curved hindlimb zeugopod", - "abnormal blood serum chemical entity level", - "curved long bone", - "non-functional kidney", + "musculoskeletal system", + "diazolidine", + "Reduced bone mineral density", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", "abnormal diaphysis morphology in the independent continuant", - "Abnormality of the upper urinary tract", - "shape anatomical entity in independent continuant", - "abnormal limb morphology", - "abnormal growth", - "abnormal hindlimb zeugopod morphology", - "abnormality of kidney physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal renal system", - "Abnormal long bone morphology", - "Abnormality of body height", - "Abnormal appendicular skeleton morphology", - "curvature anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal independent continuant amino acid level", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "abnormal hindlimb zeugopod", - "Abnormality of limb bone", + "abnormal size of multicellular organism", + "bone element", + "hemolymphoid system", + "Rickets", + "abnormal independent continuant glucose level", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal hindlimb zeugopod, curved", + "abnormal appendicular skeleton morphology", "curved anatomical entity in independent continuant", "Abnormality of the lower limb", - "abnormal appendicular skeleton morphology", + "Abnormality of the calf", + "curved hindlimb zeugopod", + "abnormal diaphysis morphology", + "curved anatomical entity", + "limb", + "pelvic appendage", + "zone of long bone", + "limb bone", + "Abnormal appendicular skeleton morphology", + "aldohexose", + "zone of organ", + "abnormal anatomical entity morphology in the independent continuant", + "increased level of protein polypeptide chain in urine", + "limb segment", + "abnormal anatomical entity, curved", + "nitrogen molecular entity", + "abnormal limb morphology", + "paired limb/fin", + "lower limb segment", + "skeletal element", + "zeugopod", + "abnormal long bone morphology", + "abnormal chemical entity level", + "appendicular skeletal system", + "subdivision of skeleton", + "endochondral bone", + "lateral structure", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "amide", + "Abnormality of limb bone", + "pelvic complex", + "abnormal limb bone morphology", + "shape anatomical entity in independent continuant", + "Organic aciduria", + "Abnormal diaphysis morphology", + "system", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb endochondral element", + "bone of free limb or fin", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "increased level of glucose in independent continuant", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "abnormal role urine level", ], }, { - "id": "MONDO:0024525", + "id": "MONDO:0013247", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "name": "Fanconi renotubular syndrome 2", + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], "provided_by": "phenio_nodes", "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", + "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:0001942", - "HP:0003648", - "HP:0001324", + "HP:0000117", "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0002900", + "HP:0000114", + "HP:0002757", "HP:0002748", - "HP:0034359", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", "HP:0003076", - "HP:0003155", - "HP:0003355", + "HP:0003165", "HP:0004322", - "HP:0003126", + "HP:0002653", + "HP:0012213", "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049", ], "has_phenotype_label": [ "Osteomalacia", - "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", + "Renal phosphate wasting", "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Hypokalemia", + "Proximal tubulopathy", + "Recurrent fractures", "Rickets", - "Impaired renal tubular reabsorption of phosphate", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", + "Elevated circulating parathyroid hormone level", "Short stature", - "Low-molecular-weight proteinuria", + "Bone pain", + "Decreased glomerular filtration rate", "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis", ], - "has_phenotype_count": 39, + "has_phenotype_count": 17, "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", + "HP:0002150", + "UPHENO:0051678", + "HP:0011280", + "UPHENO:0068134", + "UPHENO:0046344", "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - 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"UPHENO:0052008", - "UPHENO:0076299", "UPHENO:0051670", - "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", + "UPHENO:0051612", + "UPHENO:0068089", + "CHEBI:50860", + "CHEBI:36962", + "HP:0031980", + "CHEBI:36587", + "UPHENO:0068384", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", + "UPHENO:0076289", "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", - "HP:0003355", - "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", - "HP:0001992", - "HP:0002086", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", - "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", + "UPHENO:0068058", + "UPHENO:0068313", + "CHEBI:33674", + "UBERON:0000465", + "CHEBI:33582", + "UBERON:0003914", + "UPHENO:0079536", + "CHEBI:64709", + "UPHENO:0051628", "UPHENO:0050116", - "HP:0012606", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", + "GO:0008202", + "UPHENO:0082834", + "GO:0042359", + "UPHENO:0068102", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:27300", + "UPHENO:0001001", + "GO:0044238", + "UPHENO:0051680", + "UBERON:0015204", + "BFO:0000004", + "CHEBI:27136", "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", + "UPHENO:0049873", + "CHEBI:72695", + "UPHENO:0068064", "UPHENO:0051712", - "UPHENO:0049587", "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616", + "UPHENO:0049587", + "CHEBI:33595", ], "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", + "main group element atom", + "abnormal calcium atom level", + "s-block element atom", + "increased level of calcium atom in independent continuant", + "atom", + "Hypercalciuria", + "alkaline earth metal atom", + "Abnormality of urine calcium concentration", + "Renal insufficiency", + "non-functional kidney", + "Decreased glomerular filtration rate", + "Abnormal glomerular filtration rate", "Pain", "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", - "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", - "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "metal atom", + "abnormality of anatomical entity height", + "abnormal anatomical entity morphology in the independent continuant", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Growth abnormality", + "blood serum", + "increased level of nitrogen molecular entity in blood", + "increased level of chemical entity in blood serum", + "Abnormal circulating nitrogen compound concentration", + "increased level of protein in blood", + "Alkalosis", + "Acute phase response", + "abnormal blood serum chemical entity level", + "increased level of protein", + "Abnormality of acid-base homeostasis", + "increased level of parathyroid hormone in independent continuant", + "abnormal acid bodily fluid level", + "protein", + "abnormal blood parathyroid hormone level", + "parathyroid hormone", + "calcium atom", + "increased blood serum role level", + "Elevated circulating parathyroid hormone level", + "abnormal independent continuant protein level", + "abnormal role blood serum level", + "blood plasma", "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", - "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", + "abnormal blood protein polypeptide chain level", + "Hyperproteinemia", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", + "increased level of monosaccharide in urine", + "abnormal urine glucose level", + "monosaccharide", + "abnormal independent continuant carbohydrate level", + "increased level of glucose in independent continuant", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in urine", + "increased level of protein polypeptide chain in independent continuant", + "macromolecule", + "peptide", + "increased level of chemical entity in bodily fluid", + "Hyperlipidemia", + "Abnormal urine protein level", + "abnormal hormone blood level", + "increased blood role level", + "abnormal hormone independent continuant level", + "increased level of lipid in independent continuant", + "increased independent continuant hormone level", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + "vitamin metabolic process", + "lipid metabolic process", + "small molecule metabolic process", + "Abnormal metabolism", + "abnormal primary metabolic process", + "increased level of calcitriol in blood", + "epithelial tube", + "Renal tubular dysfunction", + "epithelium", + "abnormal anatomical entity mass density", "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", + "abdomen element", + "primary amide", + "elemental molecular entity", + "organism substance", + "decreased level of chemical entity in blood", + "phenotype by ontology source", + "Short stature", + "endocrine system", + "abnormally decreased functionality of the anatomical entity", + "abnormal blood plasma chemical entity level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "Abnormal circulating hormone concentration", + "abnormal urine phosphate level", "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", + "monoatomic ion", + "abnormal acid independent continuant level", + "monoatomic entity", + "main body axis", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "non-functional anatomical entity", + "Osteopenia", + "abnormal role blood level", "abnormal homeostatic process", - "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", - "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", - "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "abnormal musculature", + "increased level of monosaccharide in independent continuant", + "D3 vitamins", + "abnormal chemical homeostasis", + "abnormal independent continuant lipid level", + "phosphorus molecular entity", "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", + "excretory system", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "polyatomic entity", + "Elevated urinary carboxylic acid", + "main group molecular entity", + "abnormality of kidney physiology", "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", + "blood", + "phosphate ion homeostasis", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal endocrine system", + "Renal phosphate wasting", + "abnormal protein level", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "pnictogen molecular entity", + "All", + "carbonyl compound", + "Recurrent fractures", + "material entity", + "organic amino compound", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "upper urinary tract", "Abnormality of urine homeostasis", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "Abnormal circulating protein concentration", + "increased level of parathyroid hormone in blood serum", + "entity", + "abnormal blood lipid level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "anatomical entity", + "Abnormal blood ion concentration", + "decreased level of chemical entity in independent continuant", + "Decreased anatomical entity mass density", + "skeletal system", + "phosphoric acid derivative", "abnormality of renal system physiology", "quality", - "abnormal amino-acid betaine level", + "carbon oxoacid", "Abnormality of the genitourinary system", "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", - "abnormal cell", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", + "abnormal multicellular organism chemical entity level", + "phosphate", + "non-connected functional system", + "calcitriol", + "genitourinary system", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "abnormal vitamin D level", + "increased blood serum base level", + "abnormal blood phosphate level", + "multicellular organismal process", + "organ part", + "haemolymphatic fluid", + "abnormal skeletal system", + "multicellular anatomical structure", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "triol", + "increased level of amino acid in independent continuant", + "homeostatic process", + "Abnormal homeostasis", + "Increased susceptibility to fractures", + "organochalcogen compound", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "hematopoietic system", + "multicellular organism", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal genitourinary system", + "abnormal size of multicellular organism", + "bone element", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "organ system subdivision", + "Aminoaciduria", + "Abnormality of vitamin D metabolism", + "increased level of protein in independent continuant", + "renal system", + "Azotemia", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "process", + "abnormal role independent continuant level", + "abnormal growth", + "independent continuant", + "urine", "specifically dependent continuant", "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", - "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", + "oxoacid derivative", + "trunk", + "abnormality of musculoskeletal system physiology", + "lipid", + "material anatomical entity", + "occurrent", + "organ", + "delayed biological_process", + "Osteomalacia", + "oxoacid", + "anatomical system", + "organic cyclic compound", + "Abnormal bone structure", + "chemical homeostasis", + "skeletal element", + "cavitated compound organ", + "increased level of lipid in blood", + "kidney", "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", + "carbon group molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "bodily fluid", + "seco-steroid", + "metabolic process", + "heteroatomic molecular entity", + "steroid metabolic process", + "chemical entity", + "polyol", + "increased independent continuant acid level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "nephron epithelium", + "uriniferous tubule", + "Proximal tubulopathy", + "organism subdivision", + "cyclic compound", + "steroid", + "excretory tube", + "lateral structure", + "nephron tubule", + "hydrogen molecular entity", + "fat-soluble vitamin metabolic process", + "trunk region element", + "tube", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "Bone pain", + "Abnormality of the upper urinary tract", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "abdomen", + "abdominal segment of trunk", + "subdivision of organism along main body axis", + "abnormal kidney", + "increased bodily fluid base level", + "increased level of glucose in urine", + "body proper", + "hemolymphoid system", + "Rickets", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased independent continuant role level", + "musculoskeletal system", "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", + "increased level of calcitriol in independent continuant", + "increased level of carboxylic acid in independent continuant", + "organic substance metabolic process", + "High serum calcitriol", "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "amino acid", + "molecule", + "abnormal blood nitrogen molecular entity level", + "organic hydroxy compound metabolic process", + "increased level of lipid", + "abnormality of multicellular organism height", + "decreased level of chemical entity", + "abnormal phosphate level", + "Abnormal urine carboxylic acid level", + "primary metabolic process", + "glandular system", + "increased level of chemical entity in urine", + "increased level of amino acid in urine", + "abnormal role urine level", + "increased level of chemical entity in independent continuant", + "carboxylic acid", + "Abnormal urine pH", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal urine amino acid level", + "nitrogen molecular entity", "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", - "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", - "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", + "hydroxycalciol", + "increased level of vitamin D", "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", + "abnormal vitamin D metabolic process", + "carboxamide", + "Generalized aminoaciduria", + "organic molecular entity", + "oxygen molecular entity", + "increased level of organic acid in urine", + "organic molecule", + "Abnormality of the urinary system", + "Aciduria", + "hydroxides", + "increased level of organic acid in independent continuant", "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", - "delayed biological_process", - "abnormal growth", - "abnormal blood uric acid level", - "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", + "increased level of organic molecular entity in independent continuant", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", + "organonitrogen compound", + "heteroorganic entity", + "Abnormal circulating metabolite concentration", + "ossification", + "organic acid", + "organooxygen compound", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "polycyclic compound", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "abnormal small molecule metabolic process", + "abnormal renal system", + "vitamin D", + "excreta", + "organic oxo compound", "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "Hypokalemia", - "Decreased circulating purine concentration", + "Abnormality of vitamin metabolism", + "Abnormality of the endocrine system", + "abnormal lipid level", + "vitamin D metabolic process", + "disconnected anatomical group", + "hydroxy seco-steroid", + "abnormal independent continuant calcium atom level", + "abnormal independent continuant parathyroid hormone level", + "abnormal vitamin metabolic process", ], }, + { + "id": "MONDO:0100238", + "category": "biolink:Disease", + "name": "inherited Fanconi renotubular syndrome", + "description": "An instance of Fanconi renotubular syndrome that is inherited.", + "xref": ["OMIMPS:134600"], + "provided_by": "phenio_nodes", + "synonym": ["hereditary Fanconi renotubular syndrome"], + "namespace": "MONDO", + "has_phenotype_count": 0, + }, { "id": "MONDO:0030056", "category": "biolink:Disease", @@ -4220,7476 +6669,12751 @@ def search_response(): ], "has_phenotype_count": 14, "has_phenotype_closure": [ + "HP:0011793", + "HP:0002664", "HP:0100526", - "HP:0030078", - "HP:0032263", - "UPHENO:0080362", - "UPHENO:0002678", - "HP:0030972", - "HP:0011025", + "UBERON:0002049", + "UBERON:0000477", + "UBERON:0034923", "HP:0001626", + "UBERON:0001009", + "HP:0002597", + "HP:0000822", + "UBERON:0000055", + "UBERON:0004535", + "UBERON:0001981", + "HP:0030972", + "UPHENO:0002678", + "HP:0003774", "HP:0012211", - "UPHENO:0086132", - "UPHENO:0086128", "HP:0012622", - "UPHENO:0002411", - "HP:0000083", - "HP:0005576", - "HP:0012210", + "UPHENO:0086132", + "UBERON:0000489", "UPHENO:0076714", - "UPHENO:0087427", - "HP:0012575", - "HP:0010935", - "HP:0000077", + "UBERON:0005172", + "UBERON:0001231", + "UPHENO:0076779", + "HP:0012210", + "UBERON:0000479", + "UBERON:0005173", + "UBERON:0000916", + "HP:0000091", + "UPHENO:0075902", + "UBERON:0009773", + "UBERON:0007684", + "UBERON:0004211", + "UBERON:0002113", + "UBERON:0011143", + "UBERON:0004819", + "HP:0030760", + "UPHENO:0051930", + "CHEBI:36586", "UPHENO:0068169", - "HP:0032943", - "UPHENO:0068144", - 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"HP:0012252", - "UPHENO:0002896", - "UPHENO:0076727", - "UPHENO:0079873", - "UPHENO:0084653", - "HP:0100491", - "HP:0003330", - "UPHENO:0086635", - "UPHENO:0001005", - "HP:0045049", - "HP:0100529", - "HP:0002813", - "UPHENO:0020584", - "BFO:0000001", + "UBERON:0004111", + "UBERON:0011216", + "UBERON:0005178", + "BFO:0000002", + "UPHENO:0075945", + "CHEBI:33582", + "UBERON:0000465", + "UBERON:0004769", "UPHENO:0082538", "UPHENO:0082539", + "UBERON:0002417", + "UPHENO:0082129", + "CHEBI:37577", + "UBERON:0000062", "UPHENO:0086956", - "UPHENO:0049628", - "UPHENO:0002536", - "HP:0002097", - "HP:0002815", - "HP:0002148", - "UPHENO:0019970", + "UPHENO:0076767", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", + "HP:0012252", + "HP:0000079", + "UBERON:0002513", + "UBERON:0003840", "HP:0001992", - "HP:0002086", - "UPHENO:0002406", - "UPHENO:0087433", - "UPHENO:0081544", - "HP:0034669", - "UPHENO:0046348", - "HP:0006530", - "UPHENO:0068040", - "HP:0001367", - "UPHENO:0082835", - "HP:0002088", - "HP:0006487", - "HP:0002979", - "UPHENO:0004536", - "UPHENO:0051960", - "UPHENO:0034253", - "UPHENO:0050080", - "UPHENO:0049904", + "UBERON:0010000", "UPHENO:0051709", - "UPHENO:0051804", + "UBERON:0002390", + "CHEBI:33608", + "HP:0000940", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0001002", + "HP:0011025", + "HP:0001969", + "UBERON:0005055", + "BFO:0000015", + "UBERON:0002048", "UPHENO:0068110", + "UBERON:0003103", + "HP:0005576", + "UBERON:0001005", + "CHEBI:33256", + "UBERON:0000025", + "CHEBI:24867", + "UBERON:0000171", + "HP:0003355", + "UPHENO:0019970", + "UBERON:0007798", + "CHEBI:33304", + "HP:0002813", + "UBERON:0013702", + "HP:0002148", + "HP:0002097", + "HP:0002086", + "GO:0001503", + "UBERON:0005181", + "UBERON:0004905", + "PATO:0000001", + "HP:0002088", + "UBERON:0001004", + "UBERON:0001285", + "UBERON:0013701", + "UBERON:0009569", + "UBERON:0000475", + "UPHENO:0087433", + "UPHENO:0020748", + "UBERON:0001558", + "UBERON:0002075", + "UBERON:0004119", + "HP:0032263", "UPHENO:0046284", + "HP:0001939", + "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0068091", + "UPHENO:0087993", + "GO:0008152", + "HP:0002795", + "UBERON:0034925", + "GO:0042592", + "UPHENO:0049628", + "CHEBI:33238", + "GO:0008150", + "GO:0048878", + "UBERON:0003657", + "CHEBI:23367", + "UPHENO:0077821", + "CHEBI:36357", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "UBERON:0003823", + "HP:0001995", + "CHEBI:33259", + "UPHENO:0087427", + "UPHENO:0078554", + "UPHENO:0002332", + "UPHENO:0051763", + "UPHENO:0080362", + "UPHENO:0051937", + "UBERON:0000915", + "UPHENO:0034391", + "UPHENO:0051640", + "UPHENO:0081546", + "HP:0004360", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "UPHENO:0050080", + "UBERON:0002428", + "GO:0098771", + "UPHENO:0004459", + "UBERON:0000065", "HP:0032180", - "UPHENO:0041258", - "UPHENO:0051847", - "UPHENO:0075902", - "UPHENO:0066739", - "UPHENO:0034217", + "CHEBI:26082", + "CHEBI:36963", + "UPHENO:0051186", "HP:0003111", - "HP:0002206", - "HP:0001942", - "UPHENO:0076294", - "UPHENO:0079536", + "CHEBI:24431", + "CHEBI:33241", + "UPHENO:0049904", + "UBERON:0000978", + "HP:0100529", + "HP:0045049", + "UBERON:0000982", + "UPHENO:0034217", + "CHEBI:33839", + "CHEBI:26079", + "UPHENO:0051960", "UPHENO:0034351", "UPHENO:0084654", - "HP:0003774", - "UPHENO:0041591", - "UPHENO:0082834", - "HP:0004349", - "HP:0002748", - "UPHENO:0048707", - "HP:0011849", - "HP:0002664", - "UPHENO:0082543", - "UPHENO:0068089", + "UPHENO:0066739", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804", + "HP:0040156", + "HP:0002857", + "CHEBI:26020", + "UBERON:0000463", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "CHEBI:33302", + "UPHENO:0076740", + "UPHENO:0076294", + "HP:0001942", + "UPHENO:0079873", + "HP:0002206", + "UPHENO:0084653", + "HP:0003330", + "HP:0004348", "HP:0004918", + "UBERON:0000170", + "UPHENO:0068089", + "HP:0012337", + "CHEBI:72695", + "UPHENO:0068064", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0079536", + "UPHENO:0076289", + "UBERON:0000483", + "UBERON:0002471", + "HP:0002979", + "UPHENO:0082543", + "UPHENO:0081547", + "UPHENO:0041573", + "HP:0030878", + "HP:0045051", ], "has_phenotype_closure_label": [ - "Neoplasm of the lung", "Neoplasm of the respiratory system", - "Lung adenocarcinoma", - "Hypertension", - "Abnormality of the cardiovascular system", + "Neoplasm", "Abnormal systemic blood pressure", + "abnormal cardiovascular system", + "Hypertension", + "disconnected anatomical group", "Abnormality of the vasculature", - "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal kidney morphology", - "Tubulointerstitial fibrosis", - "abnormal kidney epithelium morphology", + "cardiovascular system", + "blood vasculature", + "Renal insufficiency", + "non-functional kidney", + "abnormal vasculature", + "Chronic kidney disease", + "abnormal kidney", + "Abnormal nephron morphology", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", "Abnormality of the kidney", - "Renal fibrosis", + "Abnormal renal insterstitial morphology", + "abdomen element", + "excretory tube", + "cavitated compound organ", + "tissue", + "anatomical cluster", + "abnormal kidney epithelium morphology", "Abnormal renal morphology", - "abnormal kidney", - "abnormal renal system morphology", - "Aciduria", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", - "increased level of carboxylic acid in urine", - "Non-small cell lung carcinoma", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "s-block molecular entity", + "Abnormal urine pH", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", + "abnormal nephron tubule morphology", "increased level of organic acid in urine", + "increased level of amino acid in urine", + "increased level of carboxylic acid in urine", + "carbon oxoacid", + "carbonyl compound", + "nephron tubule", + "Abnormal renal tubule morphology", + "hydrogen molecular entity", + "carboxylic acid", "abnormal urine amino acid level", - "abnormal cardiovascular system", - "Aminoaciduria", - "increased level of organic acid in independent continuant", - "abnormal independent continuant glucose level", - "increased level of glucose in urine", - "Abnormal urine carboxylic acid level", + "molecule", + "abnormal independent continuant amino acid level", + "amino acid", + "oxoacid", + "increased level of carboxylic acid in independent continuant", + "abnormal amino acid level", + "hexose", + "aldose", + "glucose", + "Lung adenocarcinoma", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", + "abnormal urine glucose level", + "carbohydrates and carbohydrate derivatives", + "monosaccharide", + "abnormal independent continuant carbohydrate level", "increased level of glucose in independent continuant", + "abnormal metabolite independent continuant level", + "organooxygen compound", + "heteroorganic entity", + "urine", + "increased independent continuant base level", + "Abnormality of the urinary system physiology", + "Abnormal urine metabolite level", "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "oxygen molecular entity", + "organic molecular entity", + "genitourinary system", + "abnormal genitourinary system", + "Abnormal tubulointerstitial morphology", + "upper urinary tract", + "Abnormality of urine homeostasis", + "abnormal independent continuant nitrogen molecular entity level", + "carboxamide", + "organic amino compound", + "organic oxo compound", + "excreta", + "Aciduria", "Abnormality of the urinary system", - "abnormality of renal system physiology", - "abnormal upper urinary tract", - "Proteinuria", - "abnormal role urine level", - "Stage 5 chronic kidney disease", - "increased level of organic molecular entity in independent continuant", - "abnormal urine chemical entity level", + "increased level of protein polypeptide chain in independent continuant", + "abnormal renal system", + "carbon group molecular entity", + "renal system", + "macromolecule", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "abnormal respiratory system", + "limb joint", + "limb bone", + "subdivision of organism along appendicular axis", + "bone of free limb or fin", + "hindlimb", + "Bowing of the long bones", + "anatomical structure", + "anatomical conduit", + "shape anatomical entity in independent continuant", + "organonitrogen compound", + "appendage", + "tube", + "Abnormality of acid-base homeostasis", + "Metabolic acidosis", + "abnormal renal system morphology", + "abnormal hindlimb joint", + "abnormal leg", + "vessel", + "diaphysis", + "non-functional anatomical entity", + "thoracic segment organ", + "blood vessel", + "multi-limb segment region", + "kidney", + "articulation", + "endochondral element", + "pelvic complex", + "Aminoaciduria", + "organ system subdivision", "increased level of nitrogen molecular entity in independent continuant", - "Abnormality on pulmonary function testing", - "abnormality of anatomical entity physiology", - "abnormal nephron morphology", - "abnormality of respiratory system physiology", - "Abnormality of the skeletal system", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "abnormal limb", - "Abnormal renal physiology", - "curved anatomical entity", - "Abnormal nephron morphology", - "Hypophosphatemic rickets", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal metabolite independent continuant level", - "specifically dependent continuant", - "abnormality of cardiovascular system physiology", - "increased level of carboxylic acid in independent continuant", - "Abnormal DLCO", + "abnormal diaphysis morphology in the independent continuant", + "posterior region of body", + "multicellular anatomical structure", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "Organic aciduria", "Abnormal diaphysis morphology", - "lung fibrosis", + "Abnormal DLCO", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", "shape long bone", - "abnormal genitourinary system", - "abnormal hindlimb morphology", - "abnormal knee morphology", - "abnormal skeletal joint morphology", - "Abnormal blood phosphate concentration", - "Abnormality of limb bone", - "Abnormality of lower limb joint", - "increased independent continuant base level", - "Abnormal pulmonary interstitial morphology", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "increased level of chemical entity", - "abnormal hindlimb zeugopod", - "Abnormal urine protein level", - "abnormal homeostatic process", - "Abnormal cardiovascular system physiology", - "abnormal shape of continuant", - "Abnormality of the lower limb", - "curved anatomical entity in independent continuant", - "abnormal appendicular skeleton morphology", - "Abnormal respiratory system morphology", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "entity", + "lung fibrosis", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Phenotypic abnormality", + "zone of bone organ", + "Non-small cell lung carcinoma", + "skeletal joint", "abnormal limb bone morphology", - "abnormal hematopoietic system", - "Reduced bone mineral density", + "appendicular skeleton", + "limb endochondral element", + "limb skeleton subdivision", + "skeletal system", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", "phenotype", - "Organic aciduria", - "decreased level of phosphate in independent continuant", - "abnormal independent continuant carboxylic acid level", - "Genu valgum", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "Abnormality of the upper urinary tract", - "shape anatomical entity in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "curved long bone", - "abnormal diaphysis morphology", - "abnormal anatomical entity morphology", - "Abnormal joint morphology", - "Abnormal appendicular skeleton morphology", - "increased level of monosaccharide in urine", - "Abnormal skeletal morphology", - "Abnormality of the musculoskeletal system", + "organ part", + "phenotype by ontology source", + "Proteinuria", + "protein-containing material entity", "abnormal skeletal system morphology", - "Abnormality of acid-base homeostasis", - "Increased blood pressure", - "curved hindlimb zeugopod", - "abnormal long bone morphology", - "abnormal phosphate level", - "abnormal nephron tubule morphology", - "abnormal limb morphology", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "abnormal independent continuant amino acid level", - "Abnormality of the genitourinary system", + "amide", + "Abnormality of limb bone", + "organism subdivision", + "respiratory tract", + "anatomical collection", + "All", + "abnormal lung morphology", + "Emphysema", + "multicellular organismal process", + "abnormal blood phosphate level", + "decreased level of chemical entity in blood", "shape hindlimb zeugopod", - "non-functional kidney", - "abnormal diaphysis morphology in the independent continuant", - "abnormality of kidney physiology", + "phosphate ion homeostasis", + "long bone", + "independent continuant", + "bone of appendage girdle complex", "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "abnormal renal system", - "Abnormal long bone morphology", - "Abnormality of the knee", - "Abnormal renal tubule morphology", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "curvature anatomical entity", "abnormal skeletal system", - "quality", - "abnormal anatomical entity morphology in the pelvic complex", - "abnormal limb bone", + "abnormal upper urinary tract", + "musculoskeletal system", + "curvature anatomical entity", "Abnormal knee morphology", - "Abnormal respiratory system physiology", + "abnormal shape of continuant", + "homeostatic process", + "organochalcogen compound", "Abnormal homeostasis", - "Bowing of the legs", - "Abnormality of limb bone morphology", - "curvature anatomical entity in independent continuant", + "Abnormal respiratory system physiology", + "subdivision of skeletal system", + "entity", + "bone element", + "paired limb/fin", + "polypeptide", + "Abnormality of bone mineral density", + "abnormal limb", "Abnormality of limbs", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity, curved", - "Glycosuria", + "curvature anatomical entity in independent continuant", + "Abnormality of limb bone morphology", + "abnormality of cardiovascular system physiology", + "limb", + "abnormal anatomical entity", + "zone of long bone", + "Hyperchloremic metabolic acidosis", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "abnormal appendicular skeleton morphology", + "Abnormality of the lower limb", + "curved anatomical entity in independent continuant", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "anatomical entity", + "nephron", + "curved long bone", + "occurrent", + "organ", "Abnormality of the calf", - "abnormal respiratory system morphology", - "Renal insufficiency", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "increased level of amino acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "Abnormal lung morphology", - "abnormal vasculature", - "abnormal respiratory system", - "All", - "abnormal lung morphology", - "Hypophosphatemia", - "abnormal multicellular organism chemical entity level", - "abnormal independent continuant monoatomic ion level", - "increased level of protein polypeptide chain in urine", - "Emphysema", - "abnormal blood phosphate level", - "abnormal phosphate ion homeostasis", - "abnormal chemical homeostasis", - "Abnormal circulating metabolite concentration", - "Bowing of the long bones", - "Abnormality of bone mineral density", - "Hyperchloremic acidosis", + "paired limb/fin segment", + "Abnormality of the knee", "Elevated urinary carboxylic acid", - "abnormal hindlimb joint", - "abnormal leg", - "abnormal independent continuant phosphate level", - "Pulmonary fibrosis", - "abnormal independent continuant chemical entity level", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "phenotype by ontology source", - "decreased level of chemical entity in blood", - "decreased level of chemical entity", - "Abnormality of blood and blood-forming tissues", - "Decreased DLCO", - "continuant", - "anatomical entity fibrosis", + "skeleton", "Neoplasm by anatomical site", + "p-block molecular entity", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "vasculature", + "hindlimb zeugopod", + "Abnormal long bone morphology", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "Abnormal renal physiology", + "chalcogen molecular entity", "abnormal knee", "abnormal anatomical entity mass density", - "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "abnormal bone element mass density", - "Neoplasm", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "skeleton of limb", + "Abnormal pulmonary interstitial morphology", + "material anatomical entity", + "abnormal knee morphology", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "curved anatomical entity", + "increased level of protein polypeptide chain in urine", + "limb segment", + "Abnormal joint morphology", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", + "lateral structure", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal diaphysis morphology", + "Abnormal appendicular skeleton morphology", + "material entity", + "subdivision of skeleton", + "endochondral bone", + "leg", + "monoatomic ion", + "articular system", + "Hypophosphatemia", + "curved hindlimb zeugopod", + "nitrogen molecular entity", + "abnormal limb morphology", + "aldohexose", + "zone of organ", + "abnormal long bone morphology", + "abnormal skeletal joint morphology", + "lower limb segment", + "Genu valgum", + "skeletal element", + "zeugopod", + "chemical homeostasis", + "hindlimb joint", + "trunk", + "oxoacid derivative", + "Renal fibrosis", + "abnormal hindlimb morphology", + "abnormal independent continuant glucose level", + "abnormal anatomical entity morphology in the pelvic complex", "abnormal hindlimb zeugopod, curved", - "Rickets", - "Abnormal bone ossification", + "epithelium", + "system", + "subdivision of tube", + "Abnormality of lower limb joint", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "abnormal independent continuant phosphate level", + "Bowing of the legs", + "Abnormality of the skeletal system", + "lung", + "subdivision of organism along main body axis", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", + "abnormal respiratory system morphology", + "viscus", + "circulatory system", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "epithelial tube", + "respiratory system", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "trunk region element", + "respiratory airway", + "abnormal kidney morphology", + "main body axis", + "organic acid", + "abnormal hindlimb zeugopod", + "ossification", + "Abnormal circulating metabolite concentration", + "Abnormality of the respiratory system", + "knee", + "Hypophosphatemic rickets", + "increased level of glucose in urine", + "Decreased DLCO", + "body proper", + "lower respiratory tract", + "Abnormal cardiovascular system physiology", + "Abnormal blood ion concentration", + "decreased level of chemical entity in independent continuant", + "Decreased anatomical entity mass density", + "metabolic process", + "abnormal monoatomic ion homeostasis", + "anatomical entity fibrosis", + "Abnormality of metabolism/homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "paired limb/fin skeleton", + "heteroatomic molecular entity", + "pnictogen molecular entity", + "abnormal chemical homeostasis", + "chemical entity", + "increased independent continuant acid level", + "organism substance", + "bodily fluid", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm of the lung", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "polyatomic entity", + "abnormality of respiratory system physiology", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "abnormal biological_process", + "abnormal role bodily fluid level", + "ion", + "phosphorus molecular entity", + "abnormal blood monoatomic ion level", + "respiration organ", + "increased bodily fluid acid level", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "appendicular skeletal system", + "abnormal chemical entity level", + "process", + "abnormal role independent continuant level", + "carbohydrate", + "biological_process", + "increased bodily fluid role level", + "phosphate", + "abnormal multicellular organism chemical entity level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", "abnormal blood chemical entity level", + "monoatomic entity", "abnormal acid independent continuant level", - "abnormal acid bodily fluid level", + "abnormality of kidney physiology", + "main group molecular entity", + "abnormal nephron morphology", + "multi organ part structure", + "Rickets", + "hemolymphoid system", + "abnormal bone element mass density", + "kidney epithelium", + "compound organ", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "abnormality of anatomical entity physiology", + "Decreased bone element mass density", "increased independent continuant role level", - "Abnormal urine pH", + "increased level of chemical entity", "increased level of chemical entity in independent continuant", + "abnormal acid bodily fluid level", "Acidosis", - "Abnormal renal insterstitial morphology", - "Abnormal tubulointerstitial morphology", - "Hyperchloremic metabolic acidosis", - "Abnormal urine metabolite level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "Metabolic acidosis", - "decreased level of phosphate in blood", - "abnormal role bodily fluid level", - "increased independent continuant acid level", + "increased level of chemical entity in bodily fluid", + "vascular system", + "increased level of chemical entity in urine", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "Abnormality on pulmonary function testing", + "continuant", + "protein polypeptide chain", + "peptide", + "abnormal role urine level", ], }, { - "id": "MONDO:0100238", - "category": "biolink:Disease", - "name": "inherited Fanconi renotubular syndrome", - "description": "An instance of Fanconi renotubular syndrome that is inherited.", - "xref": ["OMIMPS:134600"], - "provided_by": "phenio_nodes", - "synonym": ["hereditary Fanconi renotubular syndrome"], - "namespace": "MONDO", - "has_phenotype_count": 0, - }, - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], - "provided_by": "phenio_nodes", - "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], - "namespace": "HP", - "has_phenotype_count": 0, - }, - { - "id": "MONDO:0009213", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group C", - "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.", - "xref": ["DOID:0111087", "GARD:15168", "NCIT:C125704", "OMIM:227645", "UMLS:C3468041"], + "name": "Fanconi renotubular syndrome 1", + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600"], "provided_by": "phenio_nodes", "synonym": [ - "FA3", - "FACC", - "FANCC", - "Fanconi Anemia, complementation group type C", - "Fanconi anaemia complementation group type C", - "Fanconi anemia complementation group C", - "Fanconi anemia complementation group type C", - "Fanconi anemia, complementation group C", - "Fanconi pancytopenia type 3", - "Fanconi pancytopenia, type 3", - "facc", + "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:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0011940", - "HP:0000252", - "HP:0000957", - "HP:0000815", - "HP:0001017", - "HP:0000104", - "HP:0003974", - "HP:0000028", - "HP:0001876", - "HP:0000325", - "HP:0009778", - "HP:0001873", - "HP:0001511", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0003221", - "HP:0009943", - "HP:0005528", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001629", - "HP:0001909", - "HP:0000081", - "HP:0000085", - "HP:0001371", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", "HP:0004322", - "HP:0000365", - "HP:0020073", - "HP:0000486", - "HP:0003214", - "HP:0003213", - "HP:0000286", + "HP:0003126", + "HP:0000083", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Anterior wedging of T12", - "Microcephaly", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Anemic pallor", - "Renal agenesis", - "Absent radius", - "Cryptorchidism", - "Pancytopenia", - "Triangular face", - "Short thumb", - "Thrombocytopenia", - "Intrauterine growth retardation", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bone marrow hypocellularity", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Ventricular septal defect", - "Leukemia", - "Duplicated collecting system", - "Horseshoe kidney", - "Flexion contracture", + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", "Short stature", - "Hearing impairment", - "Hypopigmented macule", - "Strabismus", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Epicanthus", + "Low-molecular-weight proteinuria", + "Renal insufficiency", ], - "has_phenotype_count": 38, + "has_phenotype_count": 16, "has_phenotype_closure": [ - "HP:0000492", - "HP:0032039", - "UPHENO:0087058", - "UPHENO:0065599", - "HP:0030669", - "HP:0000286", - "UPHENO:0049964", - "HP:0003254", - "UPHENO:0049671", - "UPHENO:0049952", - "HP:0003214", - "HP:0012373", - "HP:0000549", - "UPHENO:0079828", - "UPHENO:0049586", - "HP:0020073", - "UPHENO:0080585", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0080352", + "CHEBI:32988", + "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:37622", + "CHEBI:16670", "UPHENO:0081424", - "UPHENO:0081440", - "HP:0034430", - "HP:0003549", - "UPHENO:0041821", - "UPHENO:0080351", - "HP:0004742", - "HP:0011793", - "UPHENO:0076776", - "HP:0030680", - "UPHENO:0086854", - "UPHENO:0015282", - "HP:0010438", - "UPHENO:0033572", - "UPHENO:0080362", - "UPHENO:0080581", - "UPHENO:0075655", - "HP:0011028", - "HP:0000978", - "HP:0003213", - "UPHENO:0051097", - "HP:0011025", - "HP:0001626", - "UPHENO:0076761", - "HP:0005528", - "UPHENO:0082444", - "UPHENO:0020041", - "HP:0009942", - "HP:0005918", - "HP:0009998", - "HP:0011018", - "HP:0011314", - "HP:0004275", - "UPHENO:0084447", - "HP:0011017", - "HP:0002664", - "UPHENO:0078606", - "HP:0003221", - "UPHENO:0050116", - "HP:0001939", - "UPHENO:0050021", - "HP:0004377", - "UPHENO:0050845", - "UPHENO:0049990", - "UPHENO:0049748", - "HP:0003220", - "HP:0004325", - "UPHENO:0033604", - "HP:0004323", - "UPHENO:0054299", - "UPHENO:0010763", - "HP:0001518", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0100887", - "HP:0000478", - "HP:0000568", - "HP:0012372", - "HP:0000002", - "UPHENO:0069523", - "UPHENO:0003020", - "HP:0004312", - "UPHENO:0085263", - "HP:0001896", - "HP:0002597", + "UPHENO:0069254", + "UPHENO:0020584", "UPHENO:0049874", - "HP:0001507", - "UPHENO:0005642", - "UPHENO:0000543", - "HP:0001511", - "UPHENO:0012541", - "HP:0034392", - "HP:0009381", - "UPHENO:0031839", - "UPHENO:0046411", - "UPHENO:0041465", - "UPHENO:0046505", - "UPHENO:0046624", + "UPHENO:0075159", + "UPHENO:0000541", + "UPHENO:0086132", + "UPHENO:0075195", + "GO:0040007", + "CHEBI:33608", + "UPHENO:0068144", + "CHEBI:35605", + "UPHENO:0068169", + "UPHENO:0068040", + "CHEBI:36587", + "CHEBI:24651", + "UPHENO:0068091", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33575", + "UPHENO:0068495", + "CHEBI:33709", + "HP:0003355", + "UPHENO:0068538", + "UPHENO:0046286", + "CHEBI:35352", + "UPHENO:0082943", + "HP:0012379", "UPHENO:0068971", - "HP:0000271", - "HP:0000496", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0002910", - "UPHENO:0086173", - "HP:0001999", - "HP:0001872", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0002678", - "UPHENO:0049873", - "HP:0005561", - "UPHENO:0085302", - "UPHENO:0080393", - "HP:0012145", - "HP:0001713", - "UPHENO:0086049", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0084987", - "UPHENO:0087339", - "UPHENO:0002597", - "UPHENO:0053298", - "UPHENO:0002712", - "UPHENO:0005597", - "UPHENO:0050101", - "HP:0000812", - "HP:0000811", - "HP:0000028", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0041075", - "UPHENO:0085144", - "UPHENO:0050108", - "UPHENO:0021474", - "UPHENO:0002595", - "HP:0009943", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0041629", - "UPHENO:0080382", + "CHEBI:33695", + "CHEBI:33694", + "CHEBI:51143", + "HP:0004379", + "UPHENO:0075666", + "UPHENO:0081777", + "CHEBI:50047", + "UPHENO:0046362", + "PR:000018263", + "CHEBI:33285", + "UPHENO:0080658", + "CHEBI:18133", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:17234", + "CHEBI:36962", + "HP:0020129", + "UPHENO:0046348", + "CHEBI:15693", + "UPHENO:0081544", + "UPHENO:0066927", + "CHEBI:33259", + "UPHENO:0078554", + "UPHENO:0002332", + "UPHENO:0077821", + "CHEBI:36357", + "CHEBI:24870", + "UBERON:0000064", + "GO:0050801", + "GO:0048878", + "HP:0002148", + "CHEBI:23367", + "UPHENO:0076289", + "HP:0001324", + "HP:0000083", + "GO:0032501", + "HP:0011804", + "HP:0001507", + "CHEBI:37577", "HP:0001510", - "UPHENO:0086201", - "UPHENO:0087888", - "UPHENO:0002598", - "UPHENO:0086855", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "HP:0011927", - "UPHENO:0052778", - "UPHENO:0021800", - "UPHENO:0085874", - "HP:0008056", - "HP:0000025", - "UPHENO:0005651", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", - "HP:0002818", - "UPHENO:0076718", - "HP:0040072", - "HP:0031704", - "HP:0040070", - "UPHENO:0080187", - "HP:0000085", - "HP:0003953", - "UPHENO:0025945", - "HP:0006503", - "HP:0012874", - "HP:0009825", - "UPHENO:0081511", - "HP:0005922", - "UPHENO:0084766", - "HP:0009601", - "HP:0100542", - "UPHENO:0088148", - "UPHENO:0084761", - "HP:0002973", - "UPHENO:0041156", - "UPHENO:0081566", - "HP:0011121", - "UPHENO:0079826", - "HP:0009142", - "UPHENO:0018390", - "UPHENO:0008668", + "HP:0003109", + "HP:0012591", + "HP:0000079", + "UPHENO:0068511", + "BFO:0000002", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", + "UPHENO:0046283", + "HP:0011277", + "CHEBI:36963", + "UPHENO:0051186", + "UPHENO:0068054", + "UBERON:8450002", + "UBERON:0001088", + "UPHENO:0082542", + "HP:0000119", "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0087307", - "HP:0011276", - "UPHENO:0084448", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "UPHENO:0076707", - "UPHENO:0021791", - "UPHENO:0081435", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0076724", - "UPHENO:0078452", - "HP:0008422", - "UPHENO:0003055", - "HP:0011805", - "HP:0001671", - "HP:0009777", - "HP:0011297", - "UPHENO:0012274", - "UPHENO:0085118", - "HP:0001167", - "HP:0040064", - "HP:0011940", - "UPHENO:0080662", - "UPHENO:0003116", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0087501", - "UPHENO:0050034", - "UPHENO:0009341", - "UPHENO:0020584", - "HP:0002813", - "HP:0011991", - "UPHENO:0074589", - "HP:0011354", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0088338", - "HP:0000081", - "UPHENO:0085873", - "HP:0000234", - "HP:0001933", - "HP:0000325", - "UPHENO:0035025", - "UPHENO:0088321", - "UPHENO:0085194", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0001017", - "UPHENO:0011498", - "UPHENO:0026181", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "CHEBI:25806", + "HP:0032943", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "CHEBI:60004", + "HP:0001942", + "HP:0004360", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0034391", + "UPHENO:0024906", "HP:0003011", - "HP:0002715", - "UPHENO:0002813", - "UPHENO:0008593", - "UPHENO:0002816", - "UPHENO:0053580", - "UPHENO:0079876", - "HP:0006265", - "HP:0001909", - "UPHENO:0087123", - "UPHENO:0087089", - "UPHENO:0041838", - "HP:0000079", - "HP:0012638", - "UPHENO:0088186", - "HP:0009815", - "UPHENO:0055730", - "UPHENO:0076723", - "UPHENO:0085984", - "HP:0020047", - "HP:0011893", - "UPHENO:0052970", - "UPHENO:0075787", - "UPHENO:0015324", - "HP:0000925", - "UPHENO:0081423", - "HP:0001627", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0080209", - "UPHENO:0087802", - "HP:0001000", - "HP:0045060", - "UPHENO:0072402", - "UPHENO:0072195", - "HP:0001876", - "UPHENO:0076692", - "UPHENO:0002536", - "UPHENO:0085076", - "UPHENO:0076791", - "UPHENO:0086589", - "HP:0001629", - "HP:0000951", - "HP:0012210", - "UPHENO:0076779", - "UPHENO:0085344", - "UPHENO:0076740", + "HP:0012337", + "HP:0001871", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "HP:0004348", + "UPHENO:0052008", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", + "UPHENO:0082835", + "CHEBI:64709", + "UPHENO:0079536", + "UBERON:0003914", + "UPHENO:0051937", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "CHEBI:23906", + "HP:0002749", + "UPHENO:0002320", + "UPHENO:0084653", + "UPHENO:0068110", + "UBERON:0003103", + "UBERON:0001231", + "UBERON:0004111", + "GO:0070293", + "UPHENO:0001005", + "HP:0040156", + "CHEBI:26020", + "UBERON:0000463", + "GO:0001503", + "UBERON:0000062", + "HP:0000093", + "GO:0055062", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "UBERON:0002417", + "CHEBI:22314", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "HP:0011849", + "UPHENO:0048707", + "GO:0003008", + "UPHENO:0076703", "UPHENO:0015280", - "UPHENO:0076744", - "HP:0000001", - "HP:0007400", - "HP:0001892", - "HP:0000315", - "UPHENO:0021561", - "UPHENO:0085189", - "UPHENO:0084420", - "UPHENO:0080200", - "UPHENO:0085371", - "HP:0025354", - "UPHENO:0021425", - "UPHENO:0049367", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0002240", - "UPHENO:0052178", - "HP:0008678", - "HP:0000486", - "HP:0001172", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0051280", + "UBERON:0001015", + "CHEBI:36080", + "UBERON:0006314", + "CHEBI:37247", "HP:0000118", - "HP:0009997", - "HP:0011446", - "HP:0100261", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0049940", - "HP:0010935", - "UPHENO:0002764", - "UPHENO:0085405", - "UPHENO:0008523", - "UPHENO:0087518", - "UPHENO:0050008", - "HP:0040012", - "UPHENO:0081466", - "UPHENO:0086005", - "UPHENO:0081755", - "UPHENO:0001072", - "HP:0000086", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0087924", - "UPHENO:0001002", - "HP:0011961", - "UPHENO:0087006", - "UPHENO:0075219", - "UPHENO:0077426", - "UPHENO:0088335", - "HP:0003974", - "UPHENO:0076703", - "HP:0001875", - "HP:0011842", - "UPHENO:0075696", - "HP:0001871", - "UPHENO:0019886", - "UPHENO:0002406", - "UPHENO:0074584", - "UPHENO:0075878", - "HP:0009778", - "HP:0006496", - "UPHENO:0002371", - "UPHENO:0088166", + "GO:0008152", + "UPHENO:0086128", + "UPHENO:0049587", + "GO:0042592", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082539", + "UPHENO:0082538", + "UBERON:0000489", "BFO:0000001", - "UPHENO:0054261", + "UPHENO:0068089", + "HP:0003330", + "UBERON:0011216", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:28358", + "UBERON:0002100", + "CHEBI:33504", + "UBERON:0001434", "UPHENO:0001003", - "UPHENO:0081436", - "HP:0001881", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "BFO:0000015", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0075696", + "HP:0011842", + "UBERON:0001630", + "HP:0033127", + "UPHENO:0001001", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0080555", + "UBERON:0000178", + "UPHENO:0068094", + "UPHENO:0076692", + "UPHENO:0002536", + "CHEBI:33238", + "UPHENO:0049628", + "HP:0001939", + "CHEBI:35381", + "UBERON:0001062", + "CHEBI:72695", + "UPHENO:0068064", + "UPHENO:0081550", + "GO:0008150", + "UPHENO:0051763", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:33250", + "UBERON:0002113", + "CHEBI:26082", + "CHEBI:33241", + "HP:0003110", + "CHEBI:36359", + "UPHENO:0049904", + "HP:0100529", + "UPHENO:0034217", + "UPHENO:0051960", + "UPHENO:0066739", "UPHENO:0075902", - "HP:0002060", - "UPHENO:0082794", - "UPHENO:0026506", - "HP:0032309", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", - "UPHENO:0002948", - "HP:0001371", - "UPHENO:0002905", + "UBERON:0004120", + "CHEBI:33675", + "UBERON:0002193", + "CHEBI:33302", + "CHEBI:16646", + "HP:0000124", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "UBERON:0004819", + "UPHENO:0002816", + "UBERON:0011143", + "HP:0011036", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0009773", + "UPHENO:0068352", + "UPHENO:0051847", + "UBERON:0005177", + "UBERON:0005173", + "UPHENO:0002411", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", + "HP:0001992", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0051709", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "UBERON:0011676", + "UBERON:0009569", + "GO:0003014", + "UBERON:0005172", + "CHEBI:78616", "HP:0000077", - "UPHENO:0041221", - "UPHENO:0086866", - "UPHENO:0085330", - "UPHENO:0049622", - "UPHENO:0086016", - "UPHENO:0076810", - "UPHENO:0085356", - "UPHENO:0006910", - "HP:0009602", - "UPHENO:0085070", - "HP:0010974", - "HP:0012443", - "UPHENO:0053588", - "UPHENO:0063722", - "UPHENO:0085042", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0032251", - "UPHENO:0054957", - "UPHENO:0004459", - "UPHENO:0000541", - "HP:0001874", - "HP:0025461", - "UPHENO:0076805", - "HP:0001155", - "HP:0002817", - "UPHENO:0086172", - "HP:0000707", - "UPHENO:0049700", - "HP:0001911", - "HP:0005927", - "HP:0011029", - "HP:0000818", - "UPHENO:0086045", - "UPHENO:0076727", - "UPHENO:0002708", - "UPHENO:0080099", - "UPHENO:0086019", - "UPHENO:0086700", - "HP:0004322", - "HP:0001249", - "HP:0100543", - "UPHENO:0087427", - "UPHENO:0002332", - "UPHENO:0086176", - "UPHENO:0004523", - "HP:0012759", - "HP:0000708", - "UPHENO:0082875", - "UPHENO:0002433", - "HP:0000032", - "UPHENO:0022529", - "UPHENO:0046759", - "UPHENO:0084107", - "HP:0009121", - "UPHENO:0002896", - "UPHENO:0080300", - "UPHENO:0076695", - "UPHENO:0054970", - "UPHENO:0020950", - "HP:0003468", - "HP:0006501", - "UPHENO:0087907", - "UPHENO:0082129", - "UPHENO:0086023", - "UPHENO:0041226", - "UPHENO:0085875", - "HP:0011355", - "UPHENO:0051124", - "HP:0003312", - "UPHENO:0082122", - "UPHENO:0076702", - "UPHENO:0049588", - "HP:0012733", - "UPHENO:0026023", - "UPHENO:0019888", - "UPHENO:0001005", - "HP:0040195", - "UPHENO:0075195", - "HP:0002977", - "UPHENO:0050625", - "HP:0010461", - "HP:0000929", - "HP:0000240", - "UPHENO:0087928", - "HP:0000078", - "UPHENO:0005016", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0026980", - "UPHENO:0075997", - "UPHENO:0020888", - "UPHENO:0086002", - "HP:0000252", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080126", - "UPHENO:0076799", - "HP:0001873", - "HP:0001034", - "HP:0002011", - "UPHENO:0074575", - "UPHENO:0009399", - "UPHENO:0025211", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0001574", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0041381", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0082682", - "UPHENO:0003811", - "UPHENO:0080221", - "UPHENO:0015327", - "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0087369", - "UPHENO:0085195", - "UPHENO:0041467", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "HP:0000080", - "UPHENO:0076710", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0050113", - "HP:0000104", - "UPHENO:0002219", - "HP:0011843", - "HP:0011729", - "UPHENO:0020809", - "HP:0000957", - "HP:0009823", - "UPHENO:0087510", + "UBERON:0004122", + "HP:0010935", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "HP:0010929", + "UPHENO:0051898", + "PR:000000001", + "UPHENO:0034199", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068247", + "GO:0055067", + "CHEBI:26217", + "UPHENO:0034438", + "UPHENO:0051958", + "CHEBI:25213", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103", + "CHEBI:33296", + "HP:0000002", + "HP:0033354", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0080659", + "UPHENO:0051645", + "HP:0003126", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "HP:0034359", + "UBERON:0000383", + "UPHENO:0051635", + "CHEBI:33674", + "UPHENO:0068058", + "CHEBI:50860", ], "has_phenotype_closure_label": [ - "abnormal zone of skin morphology", - "abnormal ocular adnexa", - "abnormal skin of head morphology", - "abnormal skin of face morphology", - "increased size of the anatomical entity in independent continuant", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "decreased size of the multicellular organism", + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "increased level of protein polypeptide chain in urine", + "carboxamide", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "peptide", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "abnormal anatomical entity morphology in the independent continuant", + "growth", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Abnormality of body height", - "Abnormality of connective tissue", - "abnormality of musculoskeletal system physiology", - "3-D shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm", - "Neoplasm by anatomical site", - "Abnormal eyelid morphology", - "Abnormal heart morphology", - "Hypopigmented macule", - "Abnormal cardiac septum morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal heart morphology", - "abnormal cardiac septum morphology", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "Internal hemorrhage", - "abnormal vasculature", - "Bone marrow hypocellularity", - "Flexion contracture", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", - "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", - "abnormal primary metabolic process", + "Growth abnormality", + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", + "increased level of organic acid in urine", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "increased level of nitrogen molecular entity in independent continuant", + "molecule", + "Elevated urinary carboxylic acid", + "amino acid", + "increased level of carboxylic acid in independent continuant", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of protein", + "nitrogen molecular entity", + "protein", + "Abnormal circulating enzyme concentration or activity", + "organic amino compound", + "alkaline phosphatase, tissue-nonspecific isozyme", + "macromolecule", + "organooxygen compound", + "heteroorganic entity", + "increased level of organic molecular entity in independent continuant", + "Abnormal urine metabolite level", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", + "Hypophosphatemia", + "monoatomic ion", + "abnormal monoatomic ion homeostasis", "Abnormality of metabolism/homeostasis", - "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "Abnormality of the orbital region", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "abnormal cardiovascular system", - "delayed growth", - "delayed biological_process", - "Growth delay", - "decreased embryo development", - "abnormal embryo development", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "Abnormality of joint mobility", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "Abnormal ventricular septum morphology", - "decreased size of the anatomical entity in the independent continuant", + "abnormal role blood level", "decreased size of the anatomical entity", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face morphology", - "abnormal face", - "Abnormal facial shape", - "Pancytopenia", - "increased anatomical entity length in independent continuant", - "abnormally decreased number of platelet", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormal bone marrow cell morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "abnormal eyelid morphology", - "Abnormal internal genitalia", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "abnormal ocular adnexa morphology", - "Absent forearm bone", - "absent forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "Epicanthus", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "2-D shape anatomical entity", - "Abnormality of limb bone morphology", - "Joint contracture", - "Abnormality of limbs", - "decreased multicellular organism mass", - "Vertebral wedging", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "cuneate vertebra", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", - "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "Thrombocytopenia", - "abnormal developmental process involved in reproduction", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "increased length of the anatomical entity", - "Abnormality of eye movement", + "blood", + "inorganic ion", + "abnormal homeostatic process", + "decreased muscle organ strength", + "main body axis", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abnormal renal absorption", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", + "abnormality of anatomical entity height", + "metal atom", + "abnormal blood potassium atom level", + "increased level of rac-lactic acid in urine", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "chemical substance", + "Aciduria", "Abnormality of the urinary system", - "abnormal reproductive system morphology", + "abnormal independent continuant potassium atom level", + "phosphate ion homeostasis", + "racemate", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "abnormal chemical homeostasis", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "heteroatomic molecular entity", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "potassium atom", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "abnormal renal system", + "process", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "Metabolic acidosis", + "All", + "material entity", + "Acidosis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", "Phenotypic abnormality", - "abnormally localised anatomical entity in independent continuant", - "Abnormal tendon morphology", - "abnormally decreased functionality of the gonad", - "abnormal cardiac ventricle morphology in the heart", - "Abnormal cell morphology", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "abnormal independent continuant carbohydrate level", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "homeostatic process", + "Abnormal enzyme concentration or activity", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "organochalcogen compound", + "abnormal anatomical entity", + "renal system", "phenotype", - "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "changed embryo development rate", - "Intrauterine growth retardation", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "Abnormality of the ocular adnexa", + "hydrogen molecular entity", + "nephron tubule", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "decreased level of potassium atom in blood", + "abnormal independent continuant phosphate level", "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "increased length of the epicanthal fold", - "shape anatomical entity in independent continuant", - "abnormal renal system", - "abnormal cardiac ventricle morphology", - "abnormal vertebral column morphology", - "Triangular face", - "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", - "phenotype by ontology source", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal tendon morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormal opening of the anatomical entity", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Chromosomal breakage induced by crosslinking agents", - "abnormal vertebra morphology", - "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "abnormal incomplete closing of the interventricular septum", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", + "abnormal monoatomic cation homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", "entity", - "2-D shape anatomical entity in independent continuant", - "Finger aplasia", + "abnormal urine glucose level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "skeletal system", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "genitourinary system", + "atom", + "renal tubule", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system process", + "multicellular anatomical structure", + "pnictogen molecular entity", + "obsolete monovalent inorganic cation homeostasis", + "protein polypeptide chain", "continuant", - "shape vertebra", - "Abnormality of brain morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal immune system", - "Abnormal vertebral morphology", + "nephron", + "amino acid chain", + "tissue", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "abnormal size of multicellular organism", + "bone element", + "abnormal growth", + "independent continuant", + "abnormality of muscle organ physiology", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "occurrent", + "organ", + "chemical homeostasis", + "increased independent continuant acid level", + "chemical entity", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "abnormal biological_process", + "abnormal role bodily fluid level", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "inorganic cation", + "increased level of chemical entity", + "renal absorption", + "carbon group molecular entity", + "metabolic process", + "material anatomical entity", + "muscle structure", + "Abnormality of the urinary system physiology", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "polyatomic entity", + "ion", + "phosphorus molecular entity", + "trunk", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "multicellular organismal process", + "abnormal blood phosphate level", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "Elevated circulating alkaline phosphatase concentration", + "abnormality of kidney physiology", + "main group molecular entity", + "biomacromolecule", + "p-block molecular entity", + "haemolymphatic fluid", + "Renal tubular dysfunction", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", + "inorganic molecular entity", "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "Abnormality of the musculature", - "abnormal development of anatomical entity", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Abnormal joint physiology", - "Irregular hyperpigmentation", - "abnormal connective tissue", - "abnormal limb bone morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal cardiovascular system morphology", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "decreased length of tendon", - "abnormal biological_process in independent continuant", - "abnormal vertebral column", - "abnormal shape of vertebra", - "triangular anatomical entity in independent continuant", - "abnormal musculature", - "abnormal nervous system", - "cuneate anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Anterior wedging of T12", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "Abnormal granulocyte count", - "triangular anatomical entity", - "shape anatomical entity", - "Abnormal form of the vertebral bodies", - "Abnormality of thrombocytes", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal cell morphology", - "abnormal nervous system morphology", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of chromosome stability", + "carbohydrates and carbohydrate derivatives", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "nephron epithelium", + "uriniferous tubule", + "musculoskeletal system", + "abnormal upper urinary tract", + "organism subdivision", + "hematopoietic system", + "multicellular organism", + "Impaired renal tubular reabsorption of phosphate", + "excretory tube", + "lateral structure", + "trunk region element", + "Abnormality of the kidney", + "abdomen", + "subdivision of organism along main body axis", + "chalcogen molecular entity", + "Abnormal renal physiology", "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal biological_process", - "abnormal bony vertebral centrum morphology", - "abnormal integument", - "Abnormality of the vertebral column", - "Macule", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormal cardiac ventricle morphology", - "Cafe-au-lait spot", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal interventricular septum morphology", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Ventricular septal defect", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "Abnormal musculoskeletal physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Hypogonadism", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal orbital region", - "Growth abnormality", - "Abnormal localization of kidney", - "Pallor", - "absent kidney in the independent continuant", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Absent radius", - "Aplasia/Hypoplasia of the radius", - "absent radius bone in the forelimb", - "absent anatomical entity in the skeletal system", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", + "increased level of glucose in urine", + "body proper", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "oxoacid derivative", + "increased level of phosphate in urine", + "Abnormal blood cation concentration", + "abnormal blood potassium(1+) level", + "musculature", + "decreased role blood level", + "monovalent inorganic cation", + "abnormal role independent continuant level", + "metal cation", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "s-block element atom", + "s-block molecular entity", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "elemental potassium", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "abnormal phosphate level", + "decreased level of chemical entity", + "system process", + "abnormal independent continuant amino acid level", + "renal system process", + "anatomical entity", + "Abnormal renal tubular resorption", + "abnormal independent continuant chemical entity level", + "Abnormality of renal excretion", + "increased level of glucose in independent continuant", + "monosaccharide", + "organic molecular entity", + "oxygen molecular entity", ], }, { - "id": "MONDO:0010953", + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", + "xref": ["MSH:D005198", "SNOMEDCT_US:236468006", "SNOMEDCT_US:44673006", "UMLS:C0341703"], + "provided_by": "phenio_nodes", + "synonym": ["De toni-fanconi-debre syndrome", "Renal tubular fanconi syndrome"], + "namespace": "HP", + "has_phenotype_count": 0, + }, + { + "id": "MONDO:0013566", "category": "biolink:Disease", - "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.", - "xref": ["DOID:0111084", "GARD:15324", "NCIT:C125709", "OMIM:600901", "UMLS:C3160739"], + "name": "Fanconi anemia complementation group L", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", + "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], "provided_by": "phenio_nodes", "synonym": [ - "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", + "FANCL", + "FANCL Fanconi anaemia", + "FANCL Fanconi anemia", + "Fanconi Anemia, complementation Group 50", + "Fanconi Anemia, complementation group type 50", + "Fanconi anaemia caused by mutation in FANCL", + "Fanconi anaemia complementation group type L", + "Fanconi anemia caused by mutation in FANCL", + "Fanconi anemia complementation group L", + "Fanconi anemia complementation group type L", + "Fanconi anemia, complementation group L", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", - "HP:0001875", + "HP:0007018", + "HP:0008551", + "HP:0040012", + "HP:0000582", + "HP:0000470", "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", "HP:0000957", - "HP:0000815", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", + "HP:0002023", + "HP:0001510", + "HP:0000316", + "HP:0001776", + "HP:0000347", "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", + "HP:0001511", + "HP:0009892", + "HP:0000151", "HP:0001263", "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0000953", + "HP:0002032", + "HP:0011968", + "HP:0001321", + "HP:0000175", + "HP:0000054", + "HP:0000437", "HP:0001903", - "HP:0001909", - "HP:0000081", - "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003214", - "HP:0003213", - "HP:0000085", + "HP:0000122", + "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089", ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", + "Attention deficit hyperactivity disorder", + "Microtia", + "Chromosome breakage", + "Upslanted palpebral fissure", + "Short neck", "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", + "Anal atresia", + "Growth delay", + "Hypertelorism", + "Bilateral talipes equinovarus", + "Micrognathia", "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", + "Intrauterine growth retardation", + "Anotia", + "Aplasia of the uterus", "Global developmental delay", "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", + "Esophageal atresia", + "Feeding difficulties", + "Cerebellar hypoplasia", + "Cleft palate", + "Micropenis", + "Depressed nasal tip", "Anemia", - "Leukemia", - "Duplicated collecting system", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney", + "Unilateral renal agenesis", + "Delayed CNS myelination", + "Microphthalmia", + "Wide nasal bridge", + "Bone marrow hypocellularity", + "Renal hypoplasia", ], - "has_phenotype_count": 32, + "has_phenotype_count": 36, 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"HP:0011024", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0009892", + "UPHENO:0076785", + "GO:0009892", + "UPHENO:0080079", + "HP:0011844", + "UBERON:0004709", + "UBERON:0010000", + "UPHENO:0080110", + "PATO:0000001", + "UPHENO:0084928", + "UPHENO:0063565", + "UPHENO:0026028", + "GO:0050794", + "UBERON:0000474", + "HP:0025354", + "UPHENO:0069196", + "BFO:0000141", + "UBERON:0013701", + "GO:0032501", + "UPHENO:0026506", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0081566", + "UBERON:0012354", "BFO:0000020", + "UPHENO:0087846", + "UBERON:0001555", "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0082682", - "UPHENO:0003811", - "UPHENO:0080221", - "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "HP:0000080", - "HP:0008373", - "UPHENO:0066972", + "HP:0000356", + "UPHENO:0069110", + "UPHENO:0014240", + "GO:0007275", + "HP:0000924", + "UBERON:0004121", + "HP:0007360", + "UPHENO:0075878", + "UBERON:0001434", + "GO:0048856", + "UPHENO:0072194", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UBERON:0000062", + "UPHENO:0080585", + "GO:0010605", + "UBERON:0002387", + "UPHENO:0012541", + "UPHENO:0080187", + "UBERON:0013702", + "UPHENO:0081099", + "UPHENO:0049586", + "UPHENO:0081790", + "UPHENO:0082129", + "HP:0001511", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0076730", + "UPHENO:0081119", + "HP:0000078", + "UBERON:0003690", + "UPHENO:0018426", + "UBERON:0011595", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0034923", + "UPHENO:0041226", + "UBERON:0011158", + "UBERON:0000974", + "UPHENO:0086628", + "HP:0000377", + "UPHENO:0076803", + "UBERON:0001690", + "UPHENO:0009396", + "UPHENO:0076752", + "UBERON:0002105", + "UPHENO:0075902", + "GO:0016043", + "UPHENO:0015280", + "UBERON:0000060", + "GO:0090304", "UPHENO:0050113", - "HP:0000104", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0087339", - "HP:0011873", - "UPHENO:0086049", - "UPHENO:0085302", - "UPHENO:0049985", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0078729", + "UPHENO:0052178", + "HP:0008551", + "HP:0005922", + "UBERON:0034929", + "UPHENO:0087907", + "GO:0009987", + "UPHENO:0087501", + "UPHENO:0076800", + "GO:0006725", + "GO:0008152", + "HP:0000174", + "UPHENO:0002896", + "GO:0043933", + "UPHENO:0005986", + "HP:0000079", "UPHENO:0026128", - "HP:0000119", - "HP:0000152", - "UPHENO:0005016", - "UPHENO:0005651", - ], - "has_phenotype_closure_label": [ - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", - "delayed biological_process", - "Growth delay", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", - "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "GO:0048523", + "GO:0009889", + "UPHENO:0087472", + "HP:0000707", + "UPHENO:0049748", + "HP:0012759", + "HP:0002118", + "HP:0007018", + "UBERON:0003113", + "HP:0002778", + "UPHENO:0050116", + "HP:0030669", + "UPHENO:0002536", + "HP:0004590", + "UBERON:5002389", + "UBERON:0010538", + "GO:0048519", + "HP:0008772", + "UBERON:0006058", + "UBERON:0007827", + "UBERON:0002470", + "UBERON:0012139", + "UPHENO:0080114", + "UPHENO:0046571", + "HP:0002086", + "UPHENO:0060026", + "UBERON:0000026", + "UBERON:0003947", + "UBERON:0002355", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0002880", + "UBERON:0012475", + "UBERON:0010712", + "UBERON:0002091", + "UBERON:0001440", + "UPHENO:0076723", + "UPHENO:0055730", + "UPHENO:0002905", + "UBERON:0003975", + "UPHENO:0080099", + "UPHENO:0008523", + "UBERON:0001062", + "UBERON:0005881", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0076727", + "UBERON:0010758", + "UBERON:0002193", + "UPHENO:0056237", + "UPHENO:0011498", + "UBERON:0004381", + "UBERON:0007272", + "UBERON:0002428", + "UPHENO:0054957", + "UBERON:0019221", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0080126", + "UPHENO:0085144", + "HP:0000238", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0084761", + "HP:0011297", + "UPHENO:0002708", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0056072", + "UBERON:0011249", + "UPHENO:0001001", + "HP:0002817", + "UBERON:0013765", + "UPHENO:0085068", + "UBERON:0004708", + "UBERON:0004120", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0003129", + "HP:0000309", + "UBERON:0004375", + "UPHENO:0076695", + "UPHENO:0075182", + "HP:0009122", + "HP:0008517", + "UBERON:0006314", + "UBERON:0005177", + "UPHENO:0081436", + "UPHENO:0081328", + "UBERON:0005173", + "HP:0005107", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0083951", + "UPHENO:0087374", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0081792", + "UPHENO:0049990", + "UPHENO:0020659", + "HP:0012243", + "HP:0008518", + "HP:0008678", + "GO:0006996", + "UBERON:0005179", + "UBERON:0003828", + "UBERON:0003463", + "GO:0060255", + "UBERON:0006075", + "UPHENO:0076735", + "UBERON:0000463", + "UBERON:0004247", + "UBERON:0000117", + "UBERON:0001005", + "HP:0000464", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0005944", + "UPHENO:0003020", + "HP:0005607", + "HP:0002575", + "HP:0000315", + "UBERON:0001004", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0005409", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0080662", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0011793", + "UBERON:0003126", + "UPHENO:0086700", + "UPHENO:0020748", + "UPHENO:0025945", + "UBERON:0006048", + "UPHENO:0021304", + "HP:0001574", + "UBERON:0001558", + "HP:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0081786", + "UBERON:0010913", + "UBERON:0001043", + "UBERON:0007811", + "HP:0012252", + "HP:0025031", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0021517", + "UPHENO:0081784", + "UPHENO:0000543", + "UPHENO:0075696", + "UBERON:0004908", + "UPHENO:0056212", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UBERON:0002616", + "UPHENO:0002964", + "UBERON:0001032", + "UPHENO:0026181", + "HP:0012443", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0088185", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "HP:0002813", + "GO:0071840", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UPHENO:0025211", + "UPHENO:0087548", + "UBERON:0000061", + "UBERON:0035639", + "GO:1901360", + "UPHENO:0056333", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0001034", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "UPHENO:0078606", + "HP:0006265", + "HP:0002023", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0087339", + "HP:0034915", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000466", + "HP:0011400", + "HP:0012372", + "HP:0000478", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0005656", + "HP:0001776", + "HP:0000925", + "UBERON:0008784", + "UBERON:0010709", + "UPHENO:0072195", + "HP:0002814", + "HP:0006496", + "UPHENO:0050008", + "UPHENO:0003070", + "UPHENO:0081575", + "HP:0011821", + "HP:0009118", + ], + "has_phenotype_closure_label": [ + "decreased size of the kidney", + "bone marrow", + "bone cell", + "abnormal immune system", + "Abnormality of bone marrow cell morphology", + "tissue", + "Bone marrow hypocellularity", + "abnormal immune system morphology", + "snout", + "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "abnormal snout morphology", + "increased width of nasal bridge", + "increased width of anatomical entity", + "Abnormality of globe size", + "Aplasia/Hypoplasia affecting the eye", + "delayed central nervous system myelination", + "abnormal biological_process in central nervous system", + "Abnormal myelination", + "central nervous system myelination", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal hematopoietic system morphology", + "system development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "cellular developmental process", + "nervous system development", + "glial cell differentiation", + "abnormal central nervous system myelination in independent continuant", + "absent kidney", + "abnormal kidney morphology", + "Abnormality of the upper urinary tract", + "Abnormality of the kidney", + "excretory system", + "abnormal upper urinary tract", + "abdomen element", + "cavitated compound organ", + "absent anatomical entity in the renal system", + "abnormal renal system", + "renal system", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormal myeloid cell morphology", + "hematopoietic system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "abnormal cell morphology", + "abnormal erythrocyte morphology", + "abnormal hematopoietic system", + "flat nose tip", + "Abnormal nasal tip morphology", + "olfactory organ", + "abnormal size of eyeball of camera-type eye", + "nose tip", + "nose", + "abnormal nose morphology", + "Abnormality of the nose", + "flattened anatomical entity in independent continuant", + "Abnormal external nose morphology", + "curvature anatomical entity", + "decreased size of the external male genitalia", + "Abnormal external genitalia", + "external male genitalia", + "male reproductive system", + "Abnormality of male external genitalia", + "Hypoplasia of penis", + "Abnormal renal morphology", + "abnormal external genitalia", + "abnormal penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "abnormal male reproductive system morphology", + "Craniofacial cleft", + "Abnormal oral cavity morphology", + "anatomical cavity", + "abnormal roof of mouth morphology", + "Orofacial cleft", + "abnormal oral cavity morphology", + "abnormal incomplete closing of the secondary palate", + "abnormal midface morphology", + "Eumetazoa", + "hindbrain", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "cerebellum hypoplasia", + "segmental subdivision of nervous system", + "regional part of brain", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "root", + "Abnormal midface morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "abnormal metencephalon morphology", + "abnormality of digestive system physiology", + "Feeding difficulties", + "Esophageal atresia", + "esophagus atresia", "Chromosomal breakage induced by crosslinking agents", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Neurodevelopmental delay", - "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "Abnormality of the orbital region", - "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "Abnormal upper limb bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", + "Neurodevelopmental abnormality", + "abnormal female reproductive system", + "abnormal kidney", + "abnormal reproductive system", + "internal genitalia", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "Wide nasal bridge", + "abnormal internal female genitalia morphology", + "female organism", + "bone marrow cell", + "internal female genitalia", + "genitourinary system", + "abnormal uterus", + "aplasia or hypoplasia of uterus", + "reproductive structure", + "Abnormal morphology of female internal genitalia", + "Aplasia of the uterus", + "female reproductive system", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "Abnormality of the uterus", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", + "Anotia", + "absent anatomical entity in the head", + "absent external ear in the head", + "absent external ear", + "abnormal embryo development", + "Intrauterine growth retardation", + "abnormal secondary palate morphology", + "abnormal developmental process", + "decreased developmental process", + "Hypoplastic male external genitalia", + "anatomical structure development", + "multicellular organism development", + "decreased embryo development", + "abnormal genitourinary system", + "changed developmental process rate", + "changed embryo development rate", + "decreased qualitatively developmental process", + "arm bone", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", + "Aplasia involving bones of the upper limbs", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "limb long bone", + "absent radius bone in the forelimb", + "abnormal limb long bone morphology", "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "zeugopod", "Aplasia/hypoplasia involving forearm bones", - "Abnormality of the vasculature", "aplastic forelimb zeugopod bone", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "Abnormality of the cell cycle", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", "Aplasia/Hypoplasia of the radius", + "embryo development", "abnormal radius bone morphology", - "Absent radius", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", - "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", + "Aplasia involving bones of the extremities", + "Micrognathia", + "abnormal jaw skeleton morphology", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "dermal bone", + "jaw skeleton", + "facial skeleton", + "mandible", + "immune system", + "facial bone", + "Hypoplastic facial bones", + "abnormal mouth", + "abnormal hematopoietic cell morphology", + "primary subdivision of cranial skeletal system", + "primary subdivision of skull", + "cranial skeletal system", + "facial bone hypoplasia", "Abnormality of the genital system", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "abnormal multicellular organismal reproductive process", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", + "intramembranous bone", + "abnormal facial skeleton morphology", + "abnormal nose", + "Aplasia/Hypoplasia of the mandible", + "Abnormal appendicular skeleton morphology", + "Cleft palate", + "behavior", + "abnormal manus morphology", + "pectoral appendage skeleton", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal arm", + "skeletal element", + "system", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "bone of dorsum", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "bone element", + "dorsum", + "cervical region", + "organ system subdivision", + "Abnormality of the anus", + "paired limb/fin skeleton", + "vertebral column", "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", + "abnormal pes morphology", + "decreased length of anatomical entity in independent continuant", + "Abnormality of the musculoskeletal system", "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", + "segment of manus", + "protein-containing material entity", + "cervical vertebra", + "membrane bone", + "abnormal cervical vertebra", + "dentary", + "appendage", + "abnormal vertebral column", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "anatomical collection", "All", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", + "increased qualitatively biological_process", + "skeletal system", + "Abnormality of the vertebral column", + "Macule", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Abnormal eyelid morphology", + "skeleton", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "Abnormality of limbs", + "paired limb/fin segment", + "orbital region", + "abnormal anatomical entity morphology in the manus", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "upper jaw region", + "Abnormality of the ocular adnexa", + "simple eye", + "cellular metabolic process", + "Atypical behavior", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal orbital region", + "ensheathment of neurons", + "regulation of cellular process", + "ocular adnexa", + "camera-type eye", + "abnormal face", + "acropodium region", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "Renal agenesis", + "abnormal respiratory system", + "secondary palate", + "organism", + "irregular bone", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "subdivision of skeleton", + "endochondral bone", + "Abnormality of the ear", + "eyelid", + "decreased size of the penis", + "Abnormality of the lower limb", + "Growth abnormality", + "axial skeletal system", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormal anus morphology", + "Abnormality of the face", + "manual digit 1", + "autopodial extension", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "negative regulation of biological process", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "sensory system", + "abnormal nervous system", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", + "Abnormal forearm morphology", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "Abnormal skeletal morphology", + "forelimb", + "material anatomical entity", + "abnormal metabolic process", + "Depressed nasal tip", + "Abnormality of mental function", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "abnormal eyelid morphology", + "manus", + "Abnormality of digestive system morphology", + "radius endochondral element", + "abnormal behavior", "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Abnormal testis morphology", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "Hematological neoplasm", + "roof of mouth", + "Abnormality of the orbital region", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "thoracic cavity element", + "Abnormal neck morphology", + "negative regulation of gene expression", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "posterior region of body", + "chromatin organization", + "organ part", + "decreased size of the external ear", + "Anemia", + "radius bone", "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal tracheobronchial morphology", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", - "continuant", - "Azoospermia", - "Abnormality of brain morphology", - "Abnormal forearm morphology", + "Hyperactivity", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "craniocervical region", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "response to stimulus", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "female reproductive organ", + "long bone", + "negative regulation of biosynthetic process", + "material entity", + "pelvic region element", + "abnormal ocular adnexa", + "abnormal location of ear", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", "abnormal anatomical entity", - "abnormal immune system", - "Short stature", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", + "continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal DNA metabolic process", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "behavior process", + "decreased size of the mandible", + "absent manual digit", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "aplasia or hypoplasia of ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "Finger aplasia", + "Reduced impulse control", + "abnormal location of external ear", + "forelimb zeugopod bone", + "nervous system", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "ear", + "anatomical entity hypoplasia in face", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "pelvic region of trunk", + "macromolecule metabolic process", + "dermal skeletal element", + "subdivision of organism along main body axis", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "Microtia", + "Renal hypoplasia", + "bone of lower jaw", + "mandible hypoplasia", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", + "aplasia or hypoplasia of external ear", + "pes", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "non-connected functional system", + "abnormal size of anatomical entity", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "Attention deficit hyperactivity disorder", + "abnormal leg", "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", + "aplasia or hypoplasia of anatomical entity", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", + "Eukaryota", + "negative regulation of cellular metabolic process", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "absent digit", + "abnormal head bone morphology", + "dorsal part of neck", + "Abnormal pinna morphology", + "external ear", + "Aplasia/Hypoplasia of the ear", + "Abnormality of the skeletal system", + "trachea", + "curvature anatomical entity in independent continuant", + "abnormal limb", + "negative regulation of cellular process", + "Abnormality of head or neck", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "regulation of biological process", + "lateral structure", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "abnormal cellular process", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "anterior region of body", + "aplastic anatomical entity", + "main body axis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "abnormal opening of the anatomical entity", + "dorsal region element", + "abnormal primary metabolic process", + "body proper", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "decreased size of the anatomical entity in the independent continuant", + "protein-DNA complex organization", + "vestibulo-auditory system", + "axon ensheathment in central nervous system", + "eye", + "compound organ", + "cellular process", + "Abnormal digit morphology", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal face morphology", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "cellular component organization", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "neurogenesis", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "lower jaw region", "abnormal digit", - "Microphthalmia", + "thoracic segment of trunk", + "Abnormality of metabolism/homeostasis", + "visual system", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "anatomical conduit", + "abnormal limb morphology", + "paired limb/fin", + "mesoderm-derived structure", + "developmental process", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "autopod region", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of the thumb", + "cell differentiation", + "appendicular skeletal system", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "arm", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "forelimb skeleton", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "dermatocranium", + "pectoral complex", + "digit", + "abnormal female reproductive system morphology", "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "abnormal testis morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", + "digit 1 plus metapodial segment", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "multi-limb segment region", + "agenesis of anatomical entity", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "external soft tissue zone", + "digit plus metapodial segment", + "abnormally increased number of brain ventricle in the independent continuant", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "skeleton of lower jaw", + "abnormal digit morphology", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "Delayed myelination", "Abnormality of skin pigmentation", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of the head", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "abnormal heart morphology", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", + "shape nose tip", + "Abnormality of globe location", + "limb bone", + "cell development", + "skeleton of manus", + "Hypertelorism", + "bone element hypoplasia in independent continuant", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Localized skin lesion", - "abnormal platelet", - "Cafe-au-lait spot", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "Hypoplastic sacrum", + "abnormal fused sacrum morphology", + "Aplasia/Hypoplasia of the sacrum", + "bony pelvis", + "Delayed CNS myelination", + "fused sacrum", + "fused sacrum hypoplasia", + "skull", + "limb skeleton subdivision", + "Aplasia/Hypoplasia involving the vertebral column", + "reproductive system", + "sacral region", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "Short attention span", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "pelvic appendage", + "respiratory tube", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "Pancytopenia", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Hypogonadism", - "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", + "abnormal respiratory tube morphology", + "subdivision of tube", + "Abnormality of the cervical spine", + "abnormal digestive system", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "digestive tract", + "oral cavity", + "Morphological abnormality of the gastrointestinal tract", + "Neoplasm", + "Tracheoesophageal fistula", + "abnormal esophagus morphology", + "pectoral appendage", + "regulation of gene expression", + "respiratory system", + "programmed DNA elimination", + "obsolete cell", + "digestive system", + "penis", + "digestive system element", + "kidney", + "abnormal biological_process", + "Growth delay", + "respiratory airway", + "tube", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormal tracheal morphology", + "thoracic segment organ", + "vertebral element", + "viscus", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal bone marrow cell morphology", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "Anemia", - "abnormal bone marrow cell", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Generalized abnormality of skin", - "abnormal internal genitalia", + "Neoplasm by anatomical site", + "Abnormal esophagus morphology", + "Abnormality of the respiratory system", + "abnormal tracheobronchial tree morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "myelination", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "abnormal brain morphology", + "organism substance", + "ventricular system of central nervous system", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "abnormal anus morphology", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormal cell morphology", + "lower limb segment", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormality of limb bone", + "central nervous system", + "anatomical point", + "ventricle of nervous system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "abnormal nervous system morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "abnormal anatomical entity topology in independent continuant", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "Decreased external ear position", + "external nose", "changed biological_process rate", "increased biological_process in skin of body", - "absent germ cell", + "abnormal external ear", + "increased biological_process", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the integument", + "Neurodevelopmental delay", + "abnormal skin of body", + "integumental system", + "integument", + "abnormal anatomical entity morphology", + "increased pigmentation", + "changed biological_process rate in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "reproductive organ", + "abnormal skull morphology", + "abnormal palpebral fissure", + "anus atresia", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "delayed growth", + "abnormal location of eyeball of camera-type eye", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Low-set ears", + "Abnormal jaw morphology", + "abnormal head", + "jaw region", + "cell", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone", ], }, { - "id": "MONDO:0013248", + "id": "MONDO:0014638", "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.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "name": "Fanconi anemia complementation group T", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", + "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], "provided_by": "phenio_nodes", "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", + "FANCT", + "Fanconi Anemia, complementation group type T", + "Fanconi anaemia caused by mutation in UBE2T", + "Fanconi anaemia complementation group type T", + "Fanconi anemia caused by mutation in UBE2T", + "Fanconi anemia complementation group type T", + "Fanconi anemia, complementation group T", + "UBE2T Fanconi anaemia", + "UBE2T Fanconi anemia", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", - "HP:0002984", - "HP:0000126", - "HP:0000028", + "HP:0004808", + "HP:0001876", + "HP:0001873", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0005528", + "HP:0009942", + "HP:0001903", + "HP:0003221", "HP:0004322", - "HP:0001245", - "HP:0003774", - "HP:0025023", + "HP:0000365", + "HP:0010628", ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", + "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Bone marrow hypocellularity", + "Duplication of thumb phalanx", + "Anemia", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia", + "Hearing impairment", + "Facial palsy", ], - "has_phenotype_count": 15, + "has_phenotype_count": 11, "has_phenotype_closure": [ - 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"UPHENO:0046707", - "HP:0000080", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", + "HP:0009601", + "UPHENO:0084928", + "UBERON:0003607", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0050625", + "RO:0002577", + "UBERON:0000475", + "UBERON:0012151", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002708", + "UPHENO:0046505", + "UBERON:0013700", + "UBERON:0011250", + "UPHENO:0002896", + "UPHENO:0049873", + "UBERON:0003620", + "HP:0005561", + "UBERON:0000153", + "UBERON:5002544", + "UBERON:0010712", + "UPHENO:0046624", + "UPHENO:0076718", + "UPHENO:0076723", + "UPHENO:0080099", + "CL:0000738", + "UBERON:0005881", + "UPHENO:0068971", + "GO:0040007", + "UBERON:0001460", + "UBERON:0003221", + "UPHENO:0084763", + "UBERON:0012358", + "UPHENO:0086045", + "UPHENO:0076727", + "UBERON:0010758", + "UPHENO:0079872", + "UBERON:0007272", + "UPHENO:0004459", + "UBERON:0002428", + "HP:0000001", + "UBERON:0001442", + "UBERON:0019221", + "UBERON:0002389", + "UBERON:0001033", + "UBERON:0001690", + "UBERON:0010740", + "GO:0031323", + "UBERON:0002513", + "UBERON:0002529", + "HP:0000301", + "UPHENO:0080126", + "UBERON:0000075", + "UPHENO:0088186", + "HP:0009815", + "HP:0001155", + "UPHENO:0084761", + "HP:0040068", + "HP:0031704", + "HP:0040070", + "GO:0006325", + "HP:0011927", + "UPHENO:0085118", + "UPHENO:0012274", + "GO:0048519", + "HP:0011314", + "HP:0001172", + "HP:0002817", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0004120", + "UBERON:0010543", + "UPHENO:0086700", + "UBERON:0012357", + "UPHENO:0079876", + "HP:0001903", + "UBERON:0034925", + "UBERON:0004708", + "UPHENO:0002240", + "UPHENO:0052178", + "UBERON:0011582", + "CL:0000225", + "UBERON:0010912", + "HP:0004322", + "UBERON:0015061", + "UBERON:0005897", + "UBERON:0004375", + "UPHENO:0001003", + "UBERON:0006717", + "UBERON:0002495", + "HP:0005528", + "GO:0003008", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0081424", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0000541", + "UBERON:0010741", + "UBERON:0018254", + "UPHENO:0086956", + "HP:0031910", + "UBERON:5101463", + "UBERON:0004381", + "UBERON:0008962", + "BFO:0000003", + "HP:0009942", + "HP:0005918", + "UBERON:0010688", + "UBERON:0004461", + "UBERON:0015021", + "UBERON:5106048", + "UBERON:0011676", + "HP:0009997", + "UBERON:0015023", + "UBERON:0011216", + "UBERON:0012150", + "UPHENO:0085189", + "UBERON:5102544", ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", + "cranial or facial muscle", + "cranial muscle", + "gustatory system", + "Abnormality of facial soft tissue", + "facial muscle", + "subdivision of head", + "abnormal facial nerve", + "Abnormal cranial nerve physiology", + "nerve", + "multi cell part structure", + "Abnormality of the nervous system", + "decreased muscle organ strength", + "Cranial nerve paralysis", + "Abnormality of the seventh cranial nerve", + "Abnormal cranial nerve morphology", + "musculature of body", + "nervous system", "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", - "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", - "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", - "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", + "abnormal nervous system", + "paralysed cranial nerve", + "skeletal muscle organ, vertebrate", "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", - "decreased length of manual digit", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", + "neuron projection bundle", + "skeletal musculature", + "abnormal peripheral nervous system morphology", + "abnormal craniocervical region morphology", + "cranial neuron projection bundle", + "abnormal nerve", + "abnormal muscle organ morphology", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "Muscle weakness", + "nerve of head region", + "decreased anatomical entity strength", + "abnormal head morphology", + "abnormal peripheral nervous system", + "body proper", + "decreased sensory perception of sound", + "Hearing abnormality", + "main body axis", + "subdivision of organism along main body axis", + "sensory perception of mechanical stimulus", + "Abnormality of head or neck", + "nervous system process", + "abnormality of ear physiology", + "Abnormality of the ear", + "musculature", + "Hearing impairment", + "ear", + "sensory perception", + "abnormality of anatomical entity physiology", + "Abnormality of the head", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory system", + "changed biological_process rate", + "delayed growth", + "Abnormality of the face", + "decreased height of the anatomical entity", + "system process", + "abnormality of multicellular organism height", + "Growth delay", + "decreased size of the multicellular organism", + "delayed biological_process", + "growth", "decreased height of the multicellular organism", - "abnormal limb morphology", + "Abnormality of body height", + "Chromosomal breakage induced by crosslinking agents", + "regulation of macromolecule biosynthetic process", + "negative regulation of biosynthetic process", + "DNA metabolic process", + "protein-DNA complex organization", + "Abnormality of chromosome stability", + "Abnormality of the peripheral nervous system", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "abnormal facial muscle", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "cellular component organization", + "regulation of biological process", + "abnormality of nervous system physiology", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "biological_process", + "abnormal biological_process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "programmed DNA elimination", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of macromolecule metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "face", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "metabolic process", + "Abnormal muscle physiology", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormal erythrocyte morphology", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", + "anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal nervous system morphology", + "sense organ", + "abnormal limb bone", + "craniocervical muscle", + "Abnormality of multiple cell lineages in the bone marrow", + "limb bone", + "Abnormality of the musculature", + "abnormal digit", + "digitopodium region", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "abnormal arm", + "skeleton", + "manual digit bone", + "oxygen accumulating cell", "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", - "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", + "Abnormal leukocyte count", + "Abnormal nervous system physiology", + "abnormal hematopoietic system morphology", + "cellular process", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet", + "Duplication of bones involving the upper extremities", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal skeletal system", + "abnormal phalanx of manus morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "forelimb endochondral element", + "multicellular anatomical structure", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "serotonin secreting cell", + "abnormal blood cell morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormal platelet morphology", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormal finger phalanx morphology", + "abnormal bone marrow morphology", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "manus", + "abnormal limb", + "Abnormal cellular immune system morphology", + "decreased length of manual digit 1", + "Neoplasm by anatomical site", + "myeloid cell", + "abnormal nervous system morphology", + "abnormal cell morphology", + "immune system", + "abnormal cranial nerve morphology", + "cellular metabolic process", + "biogenic amine secreting cell", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", "abnormal cellular metabolic process", "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", + "musculature of face", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "bone marrow", + "acropodium region", + "Pancytopenia", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "occurrent", + "organ", + "anucleate cell", + "phenotype by ontology source", + "abnormally decreased number of hematopoietic cell", + "Abnormal thumb morphology", + "manus bone", + "manual digit plus metapodial segment", "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", + "digit", + "craniocervical region musculature", + "Abnormality of blood and blood-forming tissues", + "eukaryotic cell", "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", + "skeleton of pectoral complex", + "musculoskeletal system", + "non-connected functional system", + "phenotype", + "Abnormal cell morphology", + "limb endochondral element", + "mesoderm-derived structure", + "facial nerve", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", + "paired limb/fin segment", + "entire sense organ system", + "continuant", + "tissue", + "abnormal hematopoietic cell morphology", + "regulation of biosynthetic process", + "acropodial skeleton", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal hematopoietic system", + "manual digit 1 plus metapodial segment", + "disconnected anatomical group", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "abnormally decreased number of platelet", + "phalanx", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "anatomical structure", + "anatomical system", + "abnormal phenotype by ontology source", + "muscle structure", + "material anatomical entity", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal platelet morphology", + "nucleate cell", + "Abnormal finger morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", - "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", + "Abnormal leukocyte morphology", + "abnormal anatomical entity", + "abnormal immune system", + "skeletal system", + "motile cell", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormality of facial musculature", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "segment of autopod", + "Abnormal upper limb bone morphology", + "material entity", + "abnormal blood cell", + "erythrocyte", + "organ system subdivision", + "manual digit 1 phalanx", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "manual digit 1 digitopodial skeleton", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "craniocervical region", + "abnormal long bone morphology", + "Anemia", + "abnormal bone marrow cell", + "Acute leukemia", + "manual digit 1 or 5", + "Neoplasm", + "abnormally decreased number of cell", + "muscle organ", "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "quality", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal size of multicellular organism", + "bone element", + "platelet", + "vestibulo-auditory system", + "hematopoietic cell", + "skeletal element", + "Bone marrow hypocellularity", + "hemolymphoid system", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "hematopoietic system", + "multicellular organism", + "autopod bone", + "Abnormal appendicular skeleton morphology", + "Abnormality of limbs", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "endochondral bone", + "subdivision of skeleton", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal limb morphology", + "Abnormality of thumb phalanx", + "All", + "anatomical collection", + "paired limb/fin", + "skeletal musculature of head", + "organism subdivision", + "aplasia or hypoplasia of anatomical entity", "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", - "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal ear", + "abnormal autopod region morphology", + "bone of free limb or fin", + "abnormal manual digit morphology in the independent continuant", + "Abnormal hand morphology", + "Hematological neoplasm", + "Abnormality of the hand", + "decreased biological_process", + "Short stature", + "Aplasia/hypoplasia of the extremities", + "appendicular skeletal system", + "Facial palsy", + "manual digit", + "paralysed anatomical entity", + "phalanx endochondral element", + "Abnormal ear physiology", + "sensory perception of sound", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "arm", + "lateral structure", + "Acute myeloid leukemia", + "Short digit", + "bone of pectoral complex", + "Leukemia", + "entity", + "subdivision of skeletal system", + "limb skeleton subdivision", + "upper limb segment", + "appendicular skeleton", + "forelimb skeleton", + "decreased qualitatively sensory perception of sound", + "limb", + "cell", + "Abnormality of the upper limb", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal DNA metabolic process", + "blood cell", + "abnormal manual digit morphology in the manus", + "head", + "Abnormality of limb bone", + "cranial nerve", + "abnormal phalanx morphology", + "pectoral complex", + "digit 1 digitopodial skeleton", + "abnormal face", + "autopodial extension", + "digit 1 plus metapodial segment", + "endochondral element", + "abnormality of muscle organ physiology", + "multi-limb segment region", + "manual digit phalanx endochondral element", + "appendage", + "digit plus metapodial segment", + "decreased length of manual digit", "Short finger", - "thenar eminence hypoplasia", + "skeleton of manus", + "abnormal sensory perception", + "abnormal manus", + "aplasia or hypoplasia of manual digit 1", + "bone marrow cell", + "system", "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", - "Short stature", - "decreased size of the multicellular organism", - "abnormal growth", - "abnormal cardiovascular system", - "delayed growth", + "abnormal manual digit 1 morphology", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "paired limb/fin skeleton", + "autopodial skeleton", + "skeleton of digitopodium", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "abnormal manus morphology", + "pectoral appendage skeleton", + "Abnormal long bone morphology", + "Duplication of hand bones", + "primary metabolic process", + "skeleton of manual digitopodium", + "axial musculature", + "manual digit digitopodial skeleton", + "forelimb bone", + "peripheral nervous system", + "obsolete cell", + "limb long bone", + "Duplication of phalanx of hand", + "individual digit of digitopodial skeleton", + "abnormal head", + "skeleton of manual acropodium", + "pectoral appendage", + "autopod endochondral element", + "forelimb long bone", + "digitopodium bone", + "phalanx of manus", + "manual digit 1 phalanx endochondral element", ], }, { - "id": "MONDO:0013565", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group G", - "description": "Fanconi anemia caused by mutations of the FANCG gene.", - "xref": ["DOID:0111086", "EFO:0009046", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "name": "Fanconi anemia complementation group U", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", + "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], "provided_by": "phenio_nodes", "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", + "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:0001875", + "HP:0040012", + "HP:0000086", + "HP:0002984", + "HP:0009777", + "HP:0011835", "HP:0000252", - "HP:0002863", "HP:0001510", - "HP:0001873", - "HP:0007565", - "HP:0000568", - "HP:0001172", - "HP:0001903", - "HP:0003220", - "HP:0001909", + "HP:0003974", + "HP:0001643", + "HP:0012799", + "HP:0010035", ], "has_phenotype_label": [ - "Neutropenia", + "Chromosome breakage", + "Ectopic kidney", + "Hypoplasia of the radius", + "Absent thumb", + "Absent scaphoid", "Microcephaly", - "Myelodysplasia", "Growth delay", - "Thrombocytopenia", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal thumb morphology", - "Anemia", - "Abnormality of chromosome stability", - "Leukemia", + "Absent radius", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal", ], "has_phenotype_count": 11, "has_phenotype_closure": [ - "HP:0011017", - "HP:0003220", - "HP:0012130", - "UPHENO:0088162", - "HP:0001909", - "HP:0001877", - "HP:0001903", - "UPHENO:0086700", - "UPHENO:0002708", - "UPHENO:0076727", - "HP:0001155", - "UPHENO:0084766", - "HP:0001167", - "UPHENO:0086633", - "HP:0005922", - "UPHENO:0076740", - "UPHENO:0086635", - "UPHENO:0084448", - "UPHENO:0076723", - "UPHENO:0076724", - "HP:0040068", - "HP:0001172", + "UBERON:0015043", 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"UBERON:0004571", + "HP:0001643", + "NCBITaxon:6072", + "UPHENO:0076776", + "UPHENO:0086797", + "UBERON:0012141", + "UBERON:0003513", + "UBERON:0011695", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0003498", + "UBERON:0006876", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "UBERON:0018674", + "UBERON:0013630", + "UBERON:0034923", + "HP:0010242", + "UBERON:0007100", + "UPHENO:0002908", + "UPHENO:0003587", + "UBERON:0000383", + "UPHENO:0021800", + "UBERON:0001785", + "UBERON:0014892", + "UPHENO:0080555", + "HP:0045010", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0002471", + "UPHENO:0081755", + "UPHENO:0078730", + "UPHENO:0081709", + "UBERON:0000122", + "HP:0001324", + "HP:0410008", + "UPHENO:0002433", + "UPHENO:0088186", + "UBERON:0009878", + "UBERON:0005162", + "UBERON:0001021", + "UPHENO:0002910", + "UPHENO:0080556", + "UBERON:0015789", + "HP:0003011", + "UBERON:0011216", + "UPHENO:0079870", + "HP:0001291", + "HP:0012799", + "HP:0012638", + "UBERON:0004453", + "UBERON:0002376", + "UBERON:0000010", + "UPHENO:0026055", + "UPHENO:0081515", + "HP:0009851", + "HP:0010026", + "UPHENO:0080191", + "HP:0009802", ], "has_phenotype_closure_label": [ - "Abnormality of metabolism/homeostasis", - "Abnormal cellular physiology", - "Abnormal erythrocyte morphology", - "abnormal manual digit 1 morphology", - "abnormal limb bone morphology", - "abnormal digit", - "abnormal manus morphology", + "manual digit 1 phalanx endochondral element", + "manual digit 1 metacarpus endochondral element", + "metapodial skeleton", + "skeleton of digitopodium", + "abnormal phalanx of manus morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "Abnormality of thumb phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Abnormal proximal phalanx morphology of the hand", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of proximal phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "metapodium bone", + "digitopodium bone", + "skeleton of manual acropodium", + "metacarpal bone of digit 1", + "proximal phalanx of manus", "abnormal manual digit morphology in the independent continuant", - "abnormal limb", - "abnormal arm", - "Abnormality of the hand", - "Abnormality of limb bone", - "Abnormal digit morphology", - "Abnormal finger morphology", - "Abnormal appendicular skeleton morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "Abnormal hand morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal manual digit morphology in the manus", - "Abnormality of chromosome stability", - "abnormal manus", - "abnormal forelimb morphology", - "Abnormality of the face", - "Microphthalmia", + "organism", + "Finger aplasia", + "cardiovascular system", + "abnormal manus morphology", + "pectoral appendage skeleton", + "segment of manus", + "protein-containing material entity", + "Aplasia/hypoplasia involving bones of the extremities", + "skeleton of limb", + "Aplasia involving forearm bones", + "paired limb/fin skeleton", + "system", + "decreased size of the anatomical entity in the independent continuant", + "limb long bone", + "zeugopodial skeleton", + "peripheral nervous system", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "paired limb/fin segment", + "bone element", + "pectoral complex", + "trunk region element", + "head", + "Aplasia involving bones of the upper limbs", + "arm bone", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "Abnormal skeletal morphology", + "forelimb endochondral element", + "primary metabolic process", + "skeletal system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "forelimb zeugopod bone hypoplasia", + "endochondral bone", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "abnormal upper urinary tract", + "Limb undergrowth", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "craniocervical region", + "forelimb bone", + "anatomical entity hypoplasia", + "Aplasia/hypoplasia of the extremities", + "decreased size of the radius bone", + "Abnormal cellular phenotype", "abnormal autopod region morphology", - "abnormal camera-type eye morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal eye morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the orbital region", - "aplasia or hypoplasia of eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "abnormal face morphology", - "increased biological_process", - "abnormal pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased biological_process in independent continuant", - "Hypermelanotic macule", - "abnormally decreased number of anatomical entity in the independent continuant", - "Neutropenia", - "abnormal head", - "Abnormality of the upper limb", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "abnormal erythrocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of the immune system", - "Abnormal leukocyte count", - "abnormal granulocyte morphology", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of myeloid cell", - "abnormal central nervous system morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the integument", - "aplasia or hypoplasia of anatomical entity", - "abnormal immune system", "abnormal anatomical entity", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "Abnormal cerebral morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of skull size", - "Abnormality of neutrophils", - "abnormally decreased number of cell in the independent continuant", - "phenotype", - "quality", - "decreased size of the eyeball of camera-type eye", - "Neoplasm by anatomical site", - "Abnormality of skin pigmentation", - "abnormal craniocervical region", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Growth abnormality", - "increased pigmentation in skin of body", - "Leukemia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal head morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "abnormal skin of body morphology", - "increased qualitatively biological_process", - "Abnormality of the skin", - "abnormal neutrophil", - "abnormal orbital region", - "Abnormal cell morphology", - "abnormal myeloid leukocyte morphology", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "specifically dependent continuant", - "abnormal immune system morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "abnormal digit morphology", - "Thrombocytopenia", - "Abnormal forebrain morphology", - "Anemia", - "Abnormality of the head", + "skeleton", + "paired limb/fin", + "anatomical collection", + "All", + "Aplasia involving bones of the extremities", + "absent manual digit", "abnormal phenotype by ontology source", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Abnormality of limb bone morphology", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "Abnormality of limbs", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood vessel", + "outflow tract", + "obsolete cellular aromatic compound metabolic process", + "abnormal facial muscle", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormal appendicular skeleton morphology", + "subdivision of organism along appendicular axis", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "facial nerve", + "limb", + "cell", + "Abnormality of the upper limb", + "radius endochondral element", + "manus", + "Upper limb undergrowth", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "abnormal size of anatomical entity", + "regulation of cellular process", + "digitopodium region", + "abnormal skeletal joint morphology in the pectoral complex", + "nucleobase-containing compound metabolic process", + "absent digit", + "Abnormal morphology of the radius", + "abdomen element", + "obsolete nitrogen compound metabolic process", + "thoracic segment blood vessel", + "excretory system", + "circulatory system", + "zeugopod", + "skeletal element", + "renal system", + "Abnormal localization of kidney", + "biological_process", + "subdivision of skeletal system", + "entity", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "absent anatomical entity in the metacarpus region", + "Abnormal joint morphology", + "body proper", + "abnormal peripheral nervous system", + "abnormal primary metabolic process", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "appendicular skeletal system", + "radiale", + "material anatomical entity", + "muscle structure", + "chromatin organization", + "abnormal metabolic process", + "thoracic segment organ", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "appendicular skeleton", + "upper limb segment", + "organ", + "abnormality of nervous system physiology", + "abnormal digit", + "cellular organisms", + "thoracic segment of trunk", + "Abnormality of the musculature", + "short bone", + "abnormal organelle organization", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "protein-containing complex organization", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "independent continuant", "abnormal growth", - "Abnormal cellular phenotype", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Decreased head circumference", - "delayed growth", - "Abnormality of globe size", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal limb bone", + "abnormal cellular process", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormality of facial musculature", + "articulation", + "regional part of nervous system", + "abnormally localised anatomical entity", + "nucleic acid metabolic process", + "process", + "Congenital malformation of the great arteries", + "bone element hypoplasia in independent continuant", + "Unilateral facial palsy", + "abnormal forelimb zeugopod morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "cellular metabolic process", + "abnormal cranial nerve morphology", + "forelimb zeugopod", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "continuant", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "acropodial skeleton", + "Abnormal muscle physiology", + "Phenotypic abnormality", + "regulation of macromolecule metabolic process", + "abnormal cellular component organization", + "compound organ", + "Abnormality of the peripheral nervous system", + "mesoderm-derived structure", + "autopod bone", + "thoracic cavity element", "abnormal number of anatomical enitites of type anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal leukocyte morphology", - "abnormally decreased number of cell", - "abnormal cell", + "limb bone", + "Aplasia of the proximal phalanges of the hand", + "abnormal limb bone", "Abnormal nervous system morphology", - "Cafe-au-lait spot", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic system", - "entity", - "Abnormality of blood and blood-forming tissues", - "abnormal cell morphology", - "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "abnormal anatomical entity topology in independent continuant", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "regulation of gene expression", + "quality", + "forelimb zeugopod skeleton", + "proximal mesopodial bone", + "regulation of cellular biosynthetic process", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal kidney morphology", + "abnormal carpal bone morphology", + "musculature of face", + "cellular component organization", + "manual digit 1 or 5", + "negative regulation of metabolic process", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the appendage girdle complex", + "regulation of biosynthetic process", + "forelimb skeleton", + "genitourinary system", + "abnormal limb", + "negative regulation of cellular process", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Abnormality of cardiovascular system morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "carpal region", + "limb skeleton subdivision", + "skull", + "biological regulation", + "abdominal segment of trunk", + "abnormally localised kidney", + "phenotype by ontology source", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "arm", + "protein-DNA complex organization", + "abnormal systemic artery morphology", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "decreased length of forelimb zeugopod bone", + "phalanx of manus", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "Abnormality of the kidney", + "paralysed anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "aplastic manual digit 1 phalanx", + "muscle organ", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "macromolecule metabolic process", + "vascular system", + "Ectopic kidney", + "abnormal proximal phalanx of manus morphology", + "cavitated compound organ", + "abnormal brain morphology", + "acropodium region", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of the wrist", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "vasculature", + "abnormal renal system", + "negative regulation of cellular biosynthetic process", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "regulation of biological process", + "arterial blood vessel", + "anatomical entity hypoplasia in independent continuant", + "skeletal musculature of head", + "anatomical system", + "appendage", + "root", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "abnormally localised anatomical entity in independent continuant", + "organ system subdivision", + "abnormal renal system morphology", + "aplastic carpal bone", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "appendage girdle complex", + "subdivision of head", + "trunk", + "skeletal musculature", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "anterior region of body", + "aplastic anatomical entity", + "subdivision of organism along main body axis", + "abnormal appendicular skeleton morphology", + "abnormality of cranial nerve physiology", + "limb endochondral element", + "Short forearm", + "delayed biological_process", + "Aplasia/Hypoplasia of the thumb", + "aplastic manual digit 1", + "manual digit", + "phalanx", + "vasculature of organ", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "abdomen", + "manual digit 1 plus metapodial segment", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "subdivision of trunk", + "Abnormal thumb morphology", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "Aplasia of metacarpal bones", "abnormal face", - "abnormally decreased number of hematopoietic cell", - "abnormal myeloid cell morphology", - "changed biological_process rate", + "Facial palsy", + "digit", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "digit plus metapodial segment", + "aplastic metacarpal bone of digit 1", + "abnormal manus", + "aplasia or hypoplasia of manual digit 1", + "absent metacarpal bone", + "absent anatomical entity", + "carpal skeleton", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "absent metacarpal bone in the independent continuant", + "autopodial skeleton", + "skeleton of manus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of upper limb joint", + "negative regulation of biological process", + "articular system", + "multi organ part structure", + "abnormal carpal region", + "Patent ductus arteriosus", + "aplasia or hypoplasia of carpal bone", + "Decreased head circumference", + "absent carpal bone in the independent continuant", + "Abnormality of the scaphoid", + "Carpal bone aplasia", + "absent radiale", + "systemic arterial system", + "absent radius bone in the independent continuant", + "proximal carpal bone", + "metacarpal bone", + "occurrent", + "absent carpal bone in the limb", + "Aplasia/Hypoplasia involving the carpal bones", + "skeletal joint", + "Absent scaphoid", + "digit 1", + "abnormal carpal bone", + "Abnormality of metabolism/homeostasis", + "abnormal skeletal joint morphology", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "abnormal radiale", + "carpus endochondral element", + "Absent thumb", + "proximal mesopodial endochondral element", + "Abnormal carpal morphology", + "mesopodial skeleton", + "abnormal telencephalon morphology", + "bone of free limb or fin", + "mesopodium bone", + "negative regulation of gene expression", + "carpal bone", + "abnormal skeletal system morphology", + "proximal carpal endochondral element", + "abnormal head morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Short long bone", + "abnormal skull morphology", + "cranial neuron projection bundle", "abnormal forebrain morphology", - "Abnormal myeloid cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal appendicular skeleton morphology", - "abnormal blood cell", - "All", - "continuant", + "forelimb", + "Abnormal forebrain morphology", + "heart", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal limb morphology", + "anatomical conduit", + "autopod region", + "abnormal skeletal joint morphology in the independent continuant", + "Aplasia/Hypoplasia of the cerebrum", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", "abnormal craniocervical region morphology", - "abnormal size of eyeball of camera-type eye", - "Abnormal cellular immune system morphology", - "abnormal axial skeleton plus cranial skeleton morphology", - "Hematological neoplasm", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of telencephalon", - "Myelodysplasia", - "decreased size of the anatomical entity in the independent continuant", - "abnormal telencephalon morphology", - "Multiple cafe-au-lait spots", - "Abnormal leukocyte morphology", - "abnormal brain morphology", "Abnormal skull morphology", - "Abnormality of the eye", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", + "abnormal metacarpal bone morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormality of skull size", + "decreased muscle organ strength", + "cranial skeletal system", "Abnormality of head or neck", - "Morphological central nervous system abnormality", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Aplasia/Hypoplasia affecting the eye", - "abnormal postcranial axial skeleton morphology", - "Neoplasm", - "abnormal number of anatomical enitites of type neutrophil", + "Aplasia/hypoplasia involving forearm bones", + "metapodium region", "abnormal nervous system", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "decreased size of the anatomical entity", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "Abnormality of the skeletal system", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "abnormal biological_process in independent continuant", - "increased biological_process in skin of body", + "abnormal musculature", + "Abnormality of limb bone", + "autopod endochondral element", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "regional part of brain", + "metacarpus skeleton", + "musculature", + "Growth abnormality", + "axial skeletal system", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "abnormal erythroid lineage cell morphology", - "abnormal skull morphology", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", - "abnormal integument", + "Abnormal hand morphology", + "Metazoa", + "heart vasculature", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "abnormal head", + "forelimb long bone", + "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", "abnormal biological_process", + "kidney", "Growth delay", - "delayed biological_process", - "Abnormality of thrombocytes", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormal platelet morphology", - "Abnormal platelet count", - "Localized skin lesion", - "abnormal platelet", - "Abnormality of skin morphology", - "Macule", - "abnormal pigmentation", - "abnormal skin of body", + "lateral structure", + "vessel", + "delayed growth", + "abnormal cardiovascular system", + "Absent radius", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "absent radius bone in the forelimb", + "arterial system", + "blood vasculature", + "abnormal incomplete closing of the anatomical entity", + "abnormal great vessel of heart morphology", + "abnormal arm", + "Abnormal vascular morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "Abnormal blood vessel morphology", + "artery", + "abnormal genitourinary system", + "abnormal vasculature", + "Abnormal forearm morphology", + "abnormal artery morphology", + "abnormality of anatomical entity physiology", + "abnormal cell", + "disconnected anatomical group", + "anatomical cluster", + "negative regulation of macromolecule biosynthetic process", + "abnormal vascular system morphology", + "Abnormal heart morphology", + "viscus", + "conceptus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "abnormal limb long bone morphology", + "heart blood vessel", + "great vessel of heart", + "trunk blood vessel", + "organism subdivision", + "embryonic cardiovascular system", + "metapodium bone 1", + "abnormal blood vessel morphology", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "abnormal cardiovascular system morphology", + "abnormal artery morphology in the independent continuant", + "abnormal incomplete closing of the ductus arteriosus", + "coronary vessel", + "musculature of body", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "aplasia or hypoplasia of metacarpal bone", + "mesopodium region", + "systemic artery", + "decreased anatomical entity strength", + "phenotype", + "nerve of head region", + "absent anatomical entity in the independent continuant", + "Muscle weakness", + "Abnormal upper limb bone morphology", + "Abnormal peripheral nervous system morphology", + "abnormal muscle organ morphology", + "abnormal nerve", + "multi-tissue structure", + "abnormal peripheral nervous system morphology", + "neuron projection bundle", + "Abnormal skeletal muscle morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "skeletal muscle organ, vertebrate", + "abnormal metacarpal bone of digit 1 morphology", + "paralysed cranial nerve", + "craniocervical region musculature", + "axial musculature", + "craniocervical muscle", + "Abnormal cranial nerve morphology", + "Abnormality of the face", + "Abnormality of the cardiovascular system", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "multi cell part structure", + "circulatory organ", + "cranial nerve", + "abnormal phalanx morphology", + "Abnormal cranial nerve physiology", + "Abnormality of the hand", + "radius bone", + "manus bone", + "abnormal facial nerve", + "facial muscle", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "Abnormal nervous system physiology", + "main body axis", + "gustatory system", + "cranial muscle", + "cranial or facial muscle", + "Hypoplasia of the radius", + "metacarpus region", + "decreased size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "aplasia or hypoplasia of phalanx of manus", + "abnormal anatomical entity morphology in the manus", + "proximal phalanx", ], }, { - "id": "MONDO:0044325", + "id": "MONDO:0009214", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", - "xref": ["OMIM:617784", "UMLS:C4521564"], + "name": "Fanconi anemia complementation group D2", + "description": "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.", + "xref": ["DOID:0111083", "GARD:15169", "NCIT:C125706", "OMIM:227646", "UMLS:C3160738"], "provided_by": "phenio_nodes", - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], + "synonym": [ + "FA4", + "FAD2", + "FANCD2", + "Fad2", + "Fanconi Anemia, complementation group D", + "Fanconi anemia complementation group D2", + "Fanconi anemia, complementation group D2", + "Fanconi pancytopenia type 4", + "Fanconi pancytopenia, type 4", + ], "namespace": "MONDO", "has_phenotype": [ + "HP:0007018", + "HP:0000086", + "HP:0001875", + "HP:0002575", "HP:0009777", + "HP:0001734", + "HP:0001249", + "HP:0000238", + "HP:0001627", + "HP:0000369", "HP:0000252", - "HP:0002247", - "HP:0002984", - "HP:0002863", - "HP:0002119", - "HP:0001510", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049", + "HP:0009944", + "HP:0000957", + "HP:0000815", + "HP:0000075", + "HP:0000581", + "HP:0000316", + "HP:0000104", + "HP:0003974", + "HP:0000028", + "HP:0001876", + "HP:0001873", + "HP:0003221", + "HP:0001000", + "HP:0000978", + "HP:0001903", + "HP:0001909", + "HP:0001274", + "HP:0003214", + "HP:0003213", + "HP:0001017", + "HP:0009778", + "HP:0000125", + "HP:0001896", + "HP:0000601", + "HP:0000568", + "HP:0010035", + "HP:0002032", + "HP:0002079", + "HP:0000054", + "HP:0009943", + "HP:0005528", + "HP:0001643", + "HP:0000081", + "HP:0000085", + "HP:0004322", + "HP:0000365", + "HP:0000486", + "HP:0001177", + "HP:0001518", ], "has_phenotype_label": [ + "Attention deficit hyperactivity disorder", + "Ectopic kidney", + "Neutropenia", + "Tracheoesophageal fistula", "Absent thumb", + "Annular pancreas", + "Intellectual disability", + "Hydrocephalus", + "Abnormal heart morphology", + "Low-set ears", "Microcephaly", - "Duodenal atresia", - "Hypoplasia of the radius", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology", - ], - "has_phenotype_count": 16, - "has_phenotype_closure": [ - "HP:0000089", - "HP:0000079", - "HP:0012210", - "UPHENO:0081210", - "HP:0010935", - "HP:0000271", - "UPHENO:0081227", - "UPHENO:0081786", - "UPHENO:0087472", - "UPHENO:0002910", - "UPHENO:0087585", - "UPHENO:0088145", - "UPHENO:0084928", - "HP:0025354", - "UPHENO:0085195", - "HP:0012143", - "UPHENO:0076957", - "UPHENO:0072814", - "UPHENO:0071309", - "HP:0011282", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0086932", + "Partial duplication of thumb phalanx", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Renal duplication", + "Blepharophimosis", + "Hypertelorism", + "Renal agenesis", + "Absent radius", + "Cryptorchidism", + "Pancytopenia", + "Thrombocytopenia", + "Chromosomal breakage induced by crosslinking agents", + "Abnormality of skin pigmentation", + "Bruising susceptibility", + "Anemia", + "Leukemia", + "Agenesis of corpus callosum", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Anemic pallor", + "Short thumb", + "Pelvic kidney", + "Reticulocytopenia", + "Hypotelorism", + "Microphthalmia", + "Aplasia of the 1st metacarpal", + "Esophageal atresia", + "Hypoplasia of the corpus callosum", + "Micropenis", + "Complete duplication of thumb phalanx", + "Bone marrow hypocellularity", + "Patent ductus arteriosus", + "Duplicated collecting system", + "Horseshoe kidney", + "Short stature", + "Hearing impairment", + "Strabismus", + "Preaxial hand polydactyly", + "Small for gestational age", + ], + "has_phenotype_count": 50, + "has_phenotype_closure": [ + "UPHENO:0082794", + 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"HP:0001743", - "UPHENO:0065599", - "HP:0012718", - "UPHENO:0088047", - "UPHENO:0079876", - "HP:0002119", - "UPHENO:0001440", - "UPHENO:0000541", - "UPHENO:0005642", - "HP:0002244", - "HP:0001510", - "UPHENO:0002844", - "UPHENO:0049587", - "HP:0031071", - "UPHENO:0077890", - "HP:0002597", - "UPHENO:0049874", - "UPHENO:0056059", - "UPHENO:0080382", - "UPHENO:0080377", - "HP:0000309", - "UPHENO:0085144", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0001001", + "HP:0002817", + "UPHENO:0085068", + "UBERON:0004708", + "HP:0040072", + "CL:0000094", + "UBERON:0010912", + "HP:0012090", "UPHENO:0050108", - "UPHENO:0078743", - "HP:0008678", - "UPHENO:0052178", - "UPHENO:0081792", + "HP:0100543", + "UBERON:0002097", + "HP:0011927", + "GO:0050877", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UPHENO:0056212", + "HP:0007018", + "HP:0012759", + "HP:0002118", + "UPHENO:0014240", + "HP:0000356", "UPHENO:0005597", - "UPHENO:0046538", - "UPHENO:0050034", - 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+ "UBERON:0001981", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UBERON:0000475", + "UPHENO:0076702", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0002921", + "UPHENO:0087548", + "HP:0000980", + "GO:1901360", + "UPHENO:0025211", + "UBERON:0035639", + "UBERON:0000061", + "UPHENO:0056333", + "UPHENO:0080164", + "UBERON:0006314", + "UBERON:0002544", + "UBERON:0007779", + "BFO:0000001", + "UPHENO:0002635", + "HP:0000357", + "UBERON:0000948", + "UBERON:0000072", + "UPHENO:0080362", + "UBERON:0001009", + "HP:0030680", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0015228", + "HP:0001626", + "HP:0010242", + "UPHENO:0005016", + "UBERON:0007100", + "UBERON:0000020", + "HP:0012252", + "UBERON:0007811", + "CL:0002242", + "UPHENO:0085405", + "UPHENO:0005986", + "HP:0000598", + "UBERON:0000033", + "UPHENO:0076730", + "UBERON:0002417", + "UPHENO:0074572", + "UBERON:0001819", + "UPHENO:0086699", + "UBERON:0003645", + "HP:0011314", + "UPHENO:0087907", + 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+ "UPHENO:0020041", + "UPHENO:0086391", + "GO:0071704", + "UPHENO:0082301", + "UPHENO:0021800", + "UBERON:0010741", + "CL:0000000", + "UBERON:0012358", + "UPHENO:0086956", + "UPHENO:0041561", + "UBERON:5101463", + "UPHENO:0081095", + "HP:0001873", + "UBERON:0010314", + "HP:0004275", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UPHENO:0082128", + "HP:0040070", + "UPHENO:0078729", + "UBERON:0000463", + "UBERON:0015063", + "UPHENO:0002751", + "HP:0009142", + "UBERON:0004535", + "UBERON:0002495", + "UPHENO:0005651", + "UPHENO:0076718", + "HP:0001161", + "HP:0011017", + "NCBITaxon:33208", + "UBERON:0012151", + "UPHENO:0075655", + "UBERON:5102389", + "UBERON:5106048", + "UPHENO:0021561", + "UBERON:0002405", + "UBERON:0003606", + "UBERON:0015024", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0009341", + "UPHENO:0079872", + "HP:0011276", + "GO:0010605", + "UBERON:0005897", + "UPHENO:0000541", + "GO:0010468", + "UBERON:0001436", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0001034", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "HP:0012733", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", + "HP:0008373", ], "has_phenotype_closure_label": [ - "Abnormal radial ray morphology", - "Renal hypoplasia", - "abnormal kidney morphology", - "Abnormality of the urinary system", - "Abnormality of the upper urinary tract", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "abnormally increased number of manual digit in the manus", + "abnormally increased number of digit in the appendage girdle complex", + "abnormally increased number of digit in the limb", + "abnormally increased number of anatomical entity in the appendage girdle complex", + "abnormally increased number of anatomical entity in the limb", + "body part movement", + "eye movement", + "decreased sensory perception of sound", + "sensory perception of sound", + "abnormal size of multicellular organism", + "Preaxial polydactyly", + "abnormal growth", + "abnormality of multicellular organism height", + "Short stature", + "delayed biological_process", + "decreased height of the multicellular organism", + "Abnormality of eye movement", + "concave 3-D shape anatomical entity", + "3-D shape anatomical entity", + "Horseshoe kidney", + "abnormal eye movement", + "abnormal artery morphology in the independent continuant", + "heart vasculature", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "abnormal blood vessel morphology", + "trunk blood vessel", + "conceptus", + "abnormal systemic artery morphology", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal blood vessel morphology", + "abnormal great vessel of heart morphology", + "blood vasculature", + "abnormal sensory perception", + "arterial system", + "abnormal anatomical entity morphology in the heart", + "Bone marrow hypocellularity", + "decreased size of the external male genitalia", + "abnormal penis morphology", + "Hypoplastic male external genitalia", + "Hypoplasia of penis", + "abnormal external male genitalia morphology", + "abnormal penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "Hypoplasia of the corpus callosum", + "abnormal size of corpus callosum", + "corpus callosum hypoplasia", + "anatomical entity atresia", + "Esophageal atresia", + "esophagus atresia", + "manual digit 1 metacarpus endochondral element", + "decreased size of the penis", + "Aplasia/Hypoplasia involving the metacarpal bones", + "aplasia or hypoplasia of manual digit 1 phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Aplasia/Hypoplasia of the 1st metacarpal", + "proximal phalanx of manus", + "absent metacarpal bone in the independent continuant", + "abnormal proximal phalanx of manus morphology", + "aplastic metacarpal bone of digit 1", + "systemic artery", + "aplasia or hypoplasia of metacarpal bone", + "abnormal size of eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "abnormal metacarpal bone of digit 1 morphology", + "enucleated reticulocyte", + "Reticulocytopenia", + "reticulocyte", + "abnormal enucleated reticulocyte morphology", + "Pelvic kidney", + "aplasia or hypoplasia of proximal phalanx of manus", + "Short finger", + "decreased length of manual digit", + "Short thumb", + "aplastic phalanx of manus", + "decreased size of the anatomical entity in the pectoral complex", + "Anemic pallor", + "abnormal cellular response to stress", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "delayed growth", + "abnormal DNA damage response", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle process", + "Abnormal cerebral subcortex morphology", + "metacarpus region", + "Thin corpus callosum", + "aplasia or hypoplasia of phalanx of manus", + "white matter", + "abnormal cerebral hemisphere white matter morphology", + "central nervous system cell part cluster", + "multi cell part structure", + "brain commissure", + "abnormal number of anatomical enitites of type corpus callosum", + "abnormal cerebral hemisphere morphology", + "commissure of telencephalon", + "neuron projection bundle", + "absent anatomical entity in the brain", + "corpus callosum", + "intercerebral commissure", + "nervous system commissure", + "Hematological neoplasm", + "abnormal erythrocyte morphology", + "vasculature", + "abnormality of cardiovascular system physiology", + "Bruising susceptibility", + "Abnormal bleeding", + "Generalized abnormality of skin", + "Internal hemorrhage", + "Cerebral white matter hypoplasia", + "Abnormality of blood circulation", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "cellular response to stimulus", + "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "absent anatomical entity in the nervous system", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of biosynthetic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "abnormal vascular system morphology", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cerebral hemisphere white matter", + "cellular process", + "oxygen accumulating cell", + "bone cell", + "anucleate cell", + "abnormal cellular process", + "secretory cell", + "abnormal hematopoietic system morphology", + "Abnormality of bone marrow cell morphology", + "erythrocyte", + "Abnormality of thrombocytes", + "Abnormal platelet count", + "sperm", + "germ line cell", + "haploid cell", + "sensory perception", + "brain white matter", + "abnormal developmental process", + "Abnormal cerebral white matter morphology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "arterial blood vessel", + "decreased spermatogenesis", + "abnormal male reproductive system", + "abnormal testis morphology", + "male germ cell", + "Aplasia/Hypoplasia affecting the eye", + "anatomical cluster", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "artery", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "platelet", + "absent sperm in the independent continuant", + "metapodial skeleton", + "Abnormal male reproductive system physiology", + "interphase", + "semen", + "absent gamete", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "male gamete generation", + "abnormal reproductive system morphology", + "external genitalia", + "reproductive process", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "Abnormal renal collecting system morphology", + "Aplasia of the proximal phalanges of the hand", + "decreased qualitatively developmental process", + "decreased qualitatively reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "abnormal blood circulation", + "arm bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", + "Aplasia involving bones of the upper limbs", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "absent radius bone in the forelimb", + "absent forelimb zeugopod bone", + "Abnormal forearm bone morphology", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Small for gestational age", + "abnormal artery morphology", + "Abnormal forearm morphology", + "zeugopod", + "metapodium region", + "Aplasia/hypoplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "forelimb zeugopod", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "absent kidney", "Renal hypoplasia/aplasia", - "abnormal size of kidney", + "absent anatomical entity in the renal system", + "immaterial anatomical entity", + "Strabismus", + "Abnormality of globe location", + "Abnormality of the eye", + "anatomical line", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", + "abnormal location of eyeball of camera-type eye", + "Abnormal eye morphology", + "Hypertelorism", + "Abnormal proximal phalanx morphology of the hand", + "erythroid lineage cell", + "non-material anatomical boundary", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "decreased size of the anatomical entity in the independent continuant", + "abnormal camera-type eye morphology", + "orbital region", + "decreased width of the anatomical entity", + "Abnormality of the face", + "Narrow palpebral fissure", + "palpebral fissure", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "Congenital malformation of the great arteries", + "Abnormality of the ocular adnexa", + "aplastic manual digit 1 phalanx", + "Blepharophimosis", + "Abnormality of the orbital region", + "simple eye", + "Abnormality of the palpebral fissures", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal size of palpebral fissure", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "cerebral subcortex", + "Abnormal size of the palpebral fissures", + "abnormal face morphology", + "thoracic segment blood vessel", + "Hypotelorism", + "ocular adnexa", + "camera-type eye", + "Abnormal ocular adnexa morphology", + "abnormal anatomical entity length", + "abnormal skeletal system morphology", + "segment of manus", + "arm", + "endochondral bone", + "subdivision of skeleton", + "appendicular skeletal system", + "Localized skin lesion", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Subcutaneous hemorrhage", + "Abnormal ear morphology", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "skeleton", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "skeletal system", + "metapodium bone 1", + "motile cell", + "Abnormal skeletal morphology", + "abnormally increased number of manual digit 1 in the manus", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "behavior", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "Short palpebral fissure", + "acropodium region", + "increased size of the anatomical entity", + "limb", + "cell", + "bone of appendage girdle complex", + "anatomical wall", + "serotonin secreting cell", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal bone marrow morphology", + "lower respiratory tract", + "Abnormal granulocyte morphology", + "cardiovascular system", + "proximal phalanx", + "abnormal anatomical entity morphology in the manus", + "proximo-distal subdivision of respiratory tract", + "bone marrow", + "Intellectual disability", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "Polydactyly", + "abnormal tracheobronchial tree morphology", + "Abnormality of the respiratory system", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "acropodial skeleton", + "Decreased anatomical entity mass", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Abnormal tracheobronchial morphology", + "Abnormality of DNA repair", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "viscus", + "Azoospermia", + "abnormal granulocyte morphology", + "Aplasia/hypoplasia of the extremities", + "Agenesis of corpus callosum", + "abnormally decreased functionality of the anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "thoracic segment organ", + "subdivision of digestive tract", + "respiratory airway", + "nucleate cell", + "penis", + "digestive system element", + "Preaxial hand polydactyly", + "paired limb/fin", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "digestive system", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "abnormal ear", + "Low-set ears", + "Morphological abnormality of the gastrointestinal tract", + "Duplication of phalanx of hand", + "negative regulation of cellular process", + "abnormal limb", + "abnormal eyelid morphology", + "manus", + "Renal agenesis", + "abnormal respiratory system", + "Abnormality of cardiovascular system morphology", + "Pallor", + "absent radius bone", + "orifice", + "abnormal bone of pectoral complex morphology", + "thoracic cavity element", + "regulation of macromolecule biosynthetic process", + "Thrombocytopenia", + "multicellular organism", + "hematopoietic system", + "abnormal coronary vessel morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "system", + "subdivision of tube", + "increased length of the anatomical line between pupils", + "multi organ part structure", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "cellular metabolic process", + "Abnormality of neutrophils", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "abnormal neutrophil", + "ectoderm-derived structure", + "neutrophil", + "digitopodium region", + "great vessel of heart", + "abnormal myeloid cell morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "circulatory system process", + "Abnormal leukocyte count", + "cavitated compound organ", + "Abnormal cellular immune system morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "Abnormal vascular morphology", + "abnormal arm", + "renal system", + "forelimb zeugopod bone", + "nervous system", + "absent digit", + "Abnormality of the gastrointestinal tract", + "phenotype", + "Abnormal cell morphology", + "abnormal digestive system morphology", + "abnormal forelimb morphology", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal esophagus morphology", + "outflow tract", + "blood vessel", + "Hyperactivity", + "abnormal platelet morphology", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity topology in independent continuant", + "upper digestive tract", + "anatomical system", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "metacarpal bone", + "abnormal male reproductive organ morphology", + "occurrent", + "material anatomical entity", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "abnormal phalanx of manus morphology", + "Growth delay", + "abnormal biological_process", + "kidney", + "regional part of nervous system", + "Abnormality of body height", + "tube", + "abnormally localised anatomical entity in independent continuant", + "radius endochondral element", + "abnormal behavior", + "Abnormal cellular phenotype", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Micropenis", + "Abnormal hand morphology", + "Metazoa", + "abnormality of anatomical entity physiology", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "organ part", + "multicellular organismal process", + "abnormal limb morphology", + "anatomical conduit", + "genitourinary system", + "endocrine system", + "forelimb skeleton", + "Abnormal conjugate eye movement", + "anatomical entity hypoplasia", + "forelimb bone", + "non-connected functional system", + "abnormal phenotype by ontology source", + "absent manual digit", + "abnormal closing of the anatomical entity", + "aplasia or hypoplasia of corpus callosum", + "abnormal response to stimulus", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Hearing abnormality", + "abnormal esophagus morphology", + "entity", + "decreased length of anatomical entity", + "bone of pectoral complex", + "shape kidney", + "negative regulation of metabolic process", + "developmental process", + "manual digit 1 or 5", + "Tracheoesophageal fistula", + "Neoplasm", + "abnormal hematopoietic system", + "Aplasia/Hypoplasia of the thumb", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "hematopoietic cell", + "protein-DNA complex organization", + "vestibulo-auditory system", + "abnormally localised anatomical entity", + "abnormal gamete generation", + "leukocyte", + "Abnormal nervous system physiology", + "Abnormality of the immune system", "abnormal renal system", + "Abnormality of the upper urinary tract", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "axon tract", "abnormal upper urinary tract", - "decreased size of the kidney", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal anatomical entity", + "abnormal immune system", + "aplastic manual digit 1", + "pigmentation", + "Abnormal finger phalanx morphology", + "Abnormal eye physiology", + "segment of autopod", + "manual digitopodium bone", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "renal collecting system", + "Ectopic kidney", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "behavior process", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "cleft anatomical entity in independent continuant", + "quality", + "Reduced impulse control", + "nucleobase-containing compound metabolic process", + "Short attention span", + "U-shaped anatomical entity", + "abnormal location of external ear", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "Atypical behavior", + "Abnormality of the kidney", + "phalanx endochondral element", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "digestive tract", + "vessel", + "DNA damage response", + "lateral structure", + "abnormal dorsal telencephalic commissure morphology", "abnormal renal system morphology", - "Abnormality of the face", - "abnormal midface morphology", - "anatomical entity hypoplasia in face", + "alimentary part of gastrointestinal system", + "abnormal postcranial axial skeleton morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "biological_process", + "myeloid leukocyte", + "Abnormal localization of kidney", + "abnormal external genitalia", + "Abnormal renal morphology", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "continuant", + "systemic arterial system", + "absent radius bone in the independent continuant", + "entire sense organ system", + "abnormal multicellular organismal reproductive process", + "manual digit", + "abdomen element", + "dorsal telencephalic commissure", + "abnormal brain commissure morphology", + "abnormal vasculature", + "changed developmental process rate", + "abnormal genitourinary system", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "abnormal blood cell", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "manual digit 1 phalanx", + "decreased length of palpebral fissure", + "abnormal digestive system", + "Attention deficit hyperactivity disorder", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "Macule", + "abnormally increased number of manual digit in the independent continuant", + "excretory system", + "bone marrow cell", + "circulatory system", + "endoderm-derived structure", + "trunk region element", + "cell cycle", + "pectoral complex", + "abnormal kidney morphology", + "main body axis", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "transudate", + "abnormal central nervous system morphology", + "abnormality of male reproductive system physiology", + "abnormally localised kidney", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "regulation of gene expression", + "respiratory system", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "body proper", + "abnormal nervous system", + "abnormal manus morphology", + "Prolonged G2 phase of cell cycle", + "abnormal blood cell morphology", + "pectoral appendage skeleton", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "embryonic cardiovascular system", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "abnormality of nervous system physiology", + "Reduced attention regulation", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "response to stimulus", + "Abnormal eyelid morphology", + "abnormally decreased number of granulocyte", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "external male genitalia", + "shape long bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "absent sperm", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "abnormal immune system morphology", + "shape phalanx of manus", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormally decreased number of reticulocyte", + "Abnormal tracheal morphology", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 plus metapodial segment", + "abdomen", + "abnormal hematopoietic cell morphology", + "bone element", + "abnormally increased number of manual digit 1 in the independent continuant", + "abnormality of camera-type eye physiology", + "immune system", + "Leukemia", + "abnormal cell morphology", + "abnormal nervous system morphology", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "white matter of forebrain", + "forebrain", + "abnormally decreased number of hematopoietic cell", + "subdivision of trunk", + "Abnormal thumb morphology", + "decreased length of digit", + "Abnormality of the male genitalia", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormal respiratory system morphology", + "Abnormal granulocyte count", + "Abnormal corpus callosum morphology", + "organism", + "biogenic amine secreting cell", + "trachea", + "Abnormality of the skeletal system", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "eye", + "compound organ", + "limb long bone", + "abnormally decreased number of myeloid cell", + "Aplasia/Hypoplasia of fingers", + "skeleton of pectoral complex", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", + "Abnormal digit morphology", + "head", + "Decreased body weight", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "Aplasia of metacarpal bones", "abnormal face", - "abnormal bone marrow cell", - "Abnormal megakaryocyte morphology", - "Midface retrusion", - "abnormal bone marrow cell morphology", - "abnormal cell", - "abnormal megakaryocyte morphology", - "Megakaryocyte dysplasia", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "Abnormal hindbrain morphology", - "Cerebellar malformation", - "abnormally formed anatomical entity", - "Abnormal cerebellum morphology", - "abnormal cerebral hemisphere white matter morphology", - "Abnormal periventricular white matter morphology", - "Atrophy/Degeneration affecting the central nervous system", - "anatomical entity degeneration", - "Leukoencephalopathy", - "anatomical entity degeneration in independent continuant", - "cerebral hemisphere white matter degeneration", - "Abnormal cerebral white matter morphology", - "abnormal neuroendocrine gland morphology", - "abnormal role blood level", - "Abnormal growth hormone level", - "Abnormality of the kidney", - "decreased biological_process in pituitary gland", - "abnormal diencephalon morphology", - "abnormal hormone independent continuant level", - "decreased biological_process in multicellular organism", - "Abnormality of the anterior pituitary", - "Duodenal atresia", + "digit", + "decreased size of the corpus callosum", + "Hyperpigmentation of the skin", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "paired limb/fin segment", + "endochondral element", + "multi-limb segment region", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "appendage", + "root", + "digit plus metapodial segment", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "Hand polydactyly", + "aplasia or hypoplasia of manual digit 1", + "absent metacarpal bone", + "absent anatomical entity", + "manual digit phalanx endochondral element", + "Absent forearm bone", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "paired limb/fin skeleton", + "organelle organization", + "abnormal spermatogenesis", + "postcranial axial skeletal system", + "penis hypoplasia", + "limb endochondral element", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeletal element", + "skeleton of limb", + "Abnormality of skin pigmentation", + "skeleton of manus", + "cell cycle phase", + "Abnormal pancreas morphology", + "organ", + "abnormal pancreas morphology", + "Abnormality of the pancreas", + "abnormal integument", + "Annular pancreas", + "abnormal pancreas", + "cognition", "anatomical entity hypoplasia in independent continuant", - "Decreased response to growth hormone stimulation test", - "Abnormal duodenum morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormality of the gastrointestinal tract", - "Abnormal cell morphology", - "phenotype", - "abnormal hindbrain morphology", - "abnormal cerebral subcortex morphology", + "shape anatomical entity", + "ventricular system of brain", + "Cognitive impairment", + "Neurodevelopmental abnormality", + "system process", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "cleft manual digit 1 phalanx", + "organism substance", "abnormal brain white matter morphology", - "absent digit", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "duodenum atresia", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "Neoplasm", - "malformed anatomical entity", + "abnormal gamete", + "Abnormality of the outer ear", + "ventricular system of central nervous system", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "pancreas", + "organ component layer", "Morphological central nervous system abnormality", - "Abnormality of brain morphology", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "decreased length of anatomical line between pupils", + "ventricle of nervous system", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "limb skeleton subdivision", + "skull", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "eyeball of camera-type eye", + "brain ventricle", + "metacarpus skeleton", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal brain ventricle morphology", + "absent anatomical entity in the metacarpus region", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "vasculature of trunk", + "heart plus pericardium", + "circulatory organ", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "abnormal head morphology", + "increased biological_process", + "abnormal external ear", + "sensory system", + "Abnormality of the abdominal organs", + "autopod region", "Aplasia/Hypoplasia of the cerebrum", - "Abnormal metencephalon morphology", - "abnormal secretion by cell", + "gonad", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Abnormal neutrophil count", + "Decreased anatomical entity position", + "absent anatomical entity in the central nervous system", + "abnormal ear morphology", + "Microphthalmia", + "abnormal external ear morphology", + "postcranial axial skeleton", + "ear", + "abnormal craniocervical region morphology", + "Abnormality of chromosome stability", + "immaterial entity", + "anatomical entity dysfunction in independent continuant", + "eyelid", + "abnormally decreased number of leukocyte", + "Abnormality of the ear", + "Patent ductus arteriosus", + "Abnormal pinna morphology", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "craniocervical region", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal long bone morphology", + "Decreased external ear position", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "abnormal location of ear", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal size of anatomical entity", + "Abnormal axial skeleton morphology", + "bodily fluid", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "abnormally decreased number of granulocyte in the independent continuant", "Abnormal skull morphology", - "decreased embryo development", - "abnormal brain morphology", - "abnormal hypothalamus-pituitary axis", + "absent corpus callosum", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Hearing impairment", + "abnormal metacarpal bone morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "regional part of brain", + "Growth abnormality", + "axial skeletal system", + "abnormal palpebral fissure", + "abnormal skull morphology", + "reproductive organ", + "Abnormality of body weight", "aplasia or hypoplasia of telencephalon", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", + "telencephalon", "Decreased head circumference", - "Abnormal axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal size of anatomical entity", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal midface morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", + "external ear", "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal developmental process", - "Polysplenia", - "Abnormal appendicular skeleton morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormality of endocrine system physiology", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "abnormal embryo development", - "Abnormality of limb bone morphology", - "Hypopituitarism", - "Abnormality of limbs", - "abnormal brain ventricle/choroid plexus morphology", - "aplastic anatomical entity", - "abnormal vasculature", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal chemical entity level", - "abnormal spleen morphology", - "Abnormality of the musculoskeletal system", - "Neurodegeneration", - "agenesis of anatomical entity", - "decreased developmental process", - "abnormal endocrine system morphology", - "All", - "Abnormal upper limb bone morphology", - "Abnormal cerebral ventricle morphology", - "decreased qualitatively biological_process", - "absent anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "abnormal small intestine", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal forebrain morphology", + "abnormality of anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormal phalanx morphology", + "absent sperm in the semen", + "absent anatomical entity in the limb", + "Abnormal long bone morphology", + "shape anatomical entity in pectoral complex", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "abnormal trachea morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormally increased number of anatomical entity in the manus", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of male external genitalia", + "Partial duplication of thumb phalanx", + "shape limb long bone", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "Duplication of hand bones", + "Renal duplication", + "Partial duplication of the phalanx of hand", + "Duplication of bones involving the upper extremities", + "increased anatomical entity length in independent continuant", + "shape forelimb bone", + "concave anatomical entity", + "decreased qualitatively sensory perception of mechanical stimulus", + "cleft anatomical entity", + "primary circulatory organ", + "skeleton of manual digitopodium", + "glandular system", + "manual digit digitopodial skeleton", + "shape manual digit 1 phalanx", + "digit 1 digitopodial skeleton", + "abnormal respiratory tube morphology", + "abnormal pigmentation in independent continuant", + "heart blood vessel", + "eukaryotic cell", + "abnormal limb long bone morphology", + "Abnormality of thumb phalanx", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "shape anatomical entity in manual digit 1", + "Short digit", + "skeleton of digitopodium", + "white matter of telencephalon", + "regulation of cellular metabolic process", + "individual digit of digitopodial skeleton", + "Anemia", + "radius bone", + "Abnormality of the hand", + "manus bone", + "abnormal size of skull", + "forelimb long bone", + "metapodium bone", + "metacarpal bone of digit 1", + "skeleton of manual acropodium", + "digitopodium bone", + "vasculature of organ", + "phalanx", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "phalanx of manus", + "tissue", + "manual digit 1 phalanx endochondral element", "changed biological_process rate", - "abnormal pituitary gland morphology", - "Growth abnormality", - "abnormal cellular process", - "Abnormality of skull size", - "Abnormality of head or neck", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal gland morphology", - "Morphological abnormality of the gastrointestinal tract", - "decreased qualitatively biological_process in central nervous system", - "abnormal cerebral hemisphere morphology", - "alimentary part of gastrointestinal system atresia", - "abnormal adenohypophysis", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal hand morphology", - "Neoplasm by anatomical site", - "absent anatomical entity in the independent continuant", - "abnormal small intestine morphology", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "Myelodysplasia", - "Abnormal nervous system morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal duodenum morphology", - "Phenotypic abnormality", + "increased biological_process in skin of body", + "abnormally increased number of digit in the independent continuant", + "Abnormality of skin morphology", "increased size of the anatomical entity in independent continuant", - "changed biological_process rate in brain", - "quality", - "abnormal limb bone morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal manus", - "abnormal size of skull", - "abnormal hormone blood level", - "abnormal digestive system morphology", - "kidney hypoplasia", - "Finger aplasia", - "abnormal localization", - "abnormal skull morphology", - "Anterior hypopituitarism", - "Abnormal thumb morphology", - "abnormal nervous system", - "abnormal secretion in independent continuant", - "decreased secretion in pituitary gland", - "Abnormal cerebral subcortex morphology", - "abnormal head morphology", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "midface hypoplasia", - "Abnormal intestine morphology", - "Abnormal pituitary gland morphology", - "Abnormal endocrine morphology", - "absent anatomical entity in the forelimb", - "abnormal arm", - "Chiari malformation", - "Abnormality of the head", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "aplastic manual digit 1", - "abnormal intestine morphology", - "abnormal anatomical entity morphology in the brain", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "Abnormal small intestine morphology", - "Abnormality of limb bone", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "absent anatomical entity in the multicellular organism", - "aplasia or hypoplasia of manual digit", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "abnormal appendicular skeleton morphology", - "Absent thumb", - "abnormal autopod region morphology", - "abnormally increased number of spleen", - "Intestinal atresia", - "abnormal face morphology", - "Limb undergrowth", - "decreased length of long bone", - "delayed biological_process", - "Short forearm", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "Aplasia/Hypoplasia of the thumb", - "abnormal size of brain ventricle", + "Abnormality of the integument", + "abnormal skin of body", + "integumental system", + "integument", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormally decreased number of anatomical entity in the independent continuant", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", "decreased size of the anatomical entity", - "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity", - "abnormal growth hormone secretion", - "abnormal bone of pectoral complex morphology", - "abnormal limb long bone morphology", - "Abnormality of the hand", - "Hematological neoplasm", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal hematopoietic system", - "Abnormality of blood and blood-forming tissues", - "abnormal brain ventricle morphology", - "increased size of the brain ventricle", - "Ventriculomegaly", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Growth delay", - "Supernumerary spleens", - "abnormal growth", - "abnormal digit", - "abnormal development of anatomical entity", - "decreased qualitatively developmental process", - "abnormal bone marrow morphology", - "decreased biological_process in independent continuant", - "abnormal manual digit 1 morphology", - "Intrauterine growth retardation", - "changed embryo development rate", - "Abnormal spleen morphology", - "decreased qualitatively biological_process in independent continuant", - "abnormal radius bone morphology", - "abnormal hemopoietic organ morphology", - "abnormally increased number of anatomical entity", - "abnormal spleen", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal diencephalon", - "Abnormality of the abdominal organs", - "radius bone hypoplasia", - "Abnormality of the vasculature", - "delayed growth", - "abnormal cardiovascular system", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the lymphatic system", - "abnormal genitourinary system", - "abnormal lymphatic part of lymphoid system", - "abnormal immune system", - "Short long bone", - "abnormally increased number of anatomical entity in the abdomen", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Abnormality of the immune system", - "Abnormality of the spleen", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "abnormal transport", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "tract of brain", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", "abnormal endocrine system", - "decreased growth hormone secretion", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal multicellular organism chemical entity level", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal biological_process in central nervous system", - "decreased biological_process in brain", - "intestine atresia", - "Abnormal endocrine physiology", "Abnormality of the endocrine system", - "decreased secretion in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormal response to endocrine stimulation test", - "Abnormality of the diencephalon", - "abnormal independent continuant chemical entity level", - "Abnormal circulating hormone concentration", - "abnormal role independent continuant level", - "phenotype by ontology source", - "abnormal endocrine gland morphology", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "Abnormality of reproductive system physiology", + "Puberty and gonadal disorders", ], }, { - "id": "MONDO:0011325", + "id": "MONDO:0013565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group F", - "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", - "xref": ["DOID:0111088", "EFO:0009045", "GARD:15355", "NCIT:C125707", "OMIM:603467"], + "name": "Fanconi anemia complementation group G", + "description": "Fanconi anemia caused by mutations of the FANCG gene.", + "xref": ["DOID:0111086", "GARD:15753", "NCIT:C125708", "OMIM:614082"], "provided_by": "phenio_nodes", "synonym": [ - "FANCF", - "Fanconi Anemia, complementation group type F", - "Fanconi anaemia complementation group type F", - "Fanconi anemia complementation group F", - "Fanconi anemia complementation group type F", - "Fanconi anemia, complementation group F", + "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:0009777", - "HP:0000960", - "HP:0002247", - "HP:0002984", - "HP:0000028", - "HP:0001631", - "HP:0009778", - "HP:0001873", - "HP:0000125", - "HP:0000405", - "HP:0000824", - "HP:0001511", - "HP:0008551", - "HP:0000750", - "HP:0001882", + "HP:0001875", + "HP:0002863", "HP:0000252", - "HP:0000957", + "HP:0001510", + "HP:0001873", + "HP:0007565", "HP:0000568", - "HP:0002090", - "HP:0003221", - "HP:0000076", - "HP:0001643", - "HP:0005528", - "HP:0030260", - "HP:0000953", - "HP:0001328", + "HP:0001172", "HP:0001903", - "HP:0001508", - "HP:0001195", - "HP:0000089", - "HP:0001233", - "HP:0004322", - "HP:0001561", - "HP:0011419", + "HP:0003220", + "HP:0001909", ], "has_phenotype_label": [ - "Absent thumb", - "Sacral dimple", - "Duodenal atresia", - "Hypoplasia of the radius", - "Cryptorchidism", - "Atrial septal defect", - "Short thumb", - "Thrombocytopenia", - "Pelvic kidney", - "Conductive hearing impairment", - "Decreased response to growth hormone stimulation test", - "Intrauterine growth retardation", - "Microtia", - "Delayed speech and language development", - "Leukopenia", + "Neutropenia", + "Myelodysplasia", "Microcephaly", - "Cafe-au-lait spot", + "Growth delay", + "Thrombocytopenia", + "Multiple cafe-au-lait spots", "Microphthalmia", - "Pneumonia", - "Chromosomal breakage induced by crosslinking agents", - "Vesicoureteral reflux", - "Patent ductus arteriosus", - "Bone marrow hypocellularity", - "Microphallus", - "Hyperpigmentation of the skin", - "Specific learning disability", + "Abnormal thumb morphology", "Anemia", - "Failure to thrive", - "Single umbilical artery", - "Renal hypoplasia", - "2-3 finger syndactyly", - "Short stature", - "Polyhydramnios", - "Placental abruption", + "Abnormality of chromosome stability", + "Leukemia", ], - "has_phenotype_count": 34, + "has_phenotype_count": 11, "has_phenotype_closure": [ - "UPHENO:0005170", - "HP:0011419", - "HP:0100767", - "HP:0001561", - "UPHENO:0080351", - "UPHENO:0075159", - "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0081423", - "UPHENO:0078215", - "HP:0001159", - "UPHENO:0076747", - "HP:0004100", - "UPHENO:0078288", - "UPHENO:0078125", - "UPHENO:0069254", - "HP:0001233", - "UPHENO:0078307", - "UPHENO:0082671", - "UPHENO:0081210", - "UPHENO:0075182", - "HP:0008678", - "HP:0011403", - "HP:0001194", - "HP:0001195", - "UPHENO:0075949", - "HP:0010881", - "HP:0010948", - "UPHENO:0054299", - "UPHENO:0054261", - "UPHENO:0082794", - "UPHENO:0053208", - "UPHENO:0010795", - "HP:0001508", - "UPHENO:0082761", - "UPHENO:0088162", + "HP:0003220", + "GO:0005623", + "HP:0001939", + "HP:0012130", + "CL:0000764", + "UBERON:0011582", + "UBERON:0004708", + "UPHENO:0079876", + "HP:0002817", + "HP:0001172", + "UBERON:0011249", + "HP:0040068", + "HP:0011297", + "UPHENO:0084761", + "HP:0001155", + "UPHENO:0087006", + "HP:0005922", + "UPHENO:0084766", + "UBERON:0002529", + "UBERON:0010740", + "UBERON:0019221", + "UBERON:0004381", + "UBERON:0010758", + "UPHENO:0084763", + "UPHENO:0002708", + "UPHENO:0002905", + "UBERON:0002091", + "UBERON:0010712", + "UBERON:5002544", + "UPHENO:0002896", + "HP:0011017", + "UBERON:0012141", + "UBERON:0012139", + "UBERON:0008785", + "UBERON:0002470", + "UBERON:0006048", + "UBERON:0006058", + "UBERON:0010538", + "UBERON:0001474", + "UBERON:0002544", + "UPHENO:0002830", + "HP:0040064", + "HP:0001167", + "UBERON:0002398", + "UBERON:0005451", "HP:0001877", - "HP:0001328", - "UPHENO:0087548", - "UPHENO:0003058", - "UPHENO:0069391", - "HP:0008736", - "HP:0000036", - "UPHENO:0081320", + "UBERON:0001463", + "UBERON:0002102", + "UBERON:0010707", + "UPHENO:0084448", + "UBERON:0004710", + "UPHENO:0086633", + "UBERON:0002204", + "HP:0000240", + "UBERON:0000475", + "UBERON:0000033", + "HP:0025354", + "PATO:0000001", + "HP:0000152", + "UPHENO:0086016", + "UBERON:0002389", + "NCBITaxon:2759", + "UBERON:0000026", + "UBERON:0002405", + "HP:0011844", + "UPHENO:0080079", + "UBERON:0015061", + "UBERON:0003129", + "UBERON:0000465", + "HP:0002060", + "CL:0000988", + "UBERON:5006048", + "UPHENO:0081435", + "HP:0010987", + "HP:0000924", + "UBERON:0000153", + "HP:0000951", + "UBERON:0002097", + "UBERON:0000062", + "UBERON:0010363", + "HP:0002977", + "CL:0000219", + "UBERON:0007811", + "UBERON:0005881", + "CL:0000738", + "CL:0000255", + "HP:0004377", + "UBERON:0002090", + "UPHENO:0000543", + "UBERON:0015203", + "UPHENO:0022529", + "UBERON:0011676", + "UBERON:0001017", + "UPHENO:0076740", + "UPHENO:0076724", + "UBERON:0000061", + "BFO:0000004", + "UPHENO:0015280", + "UPHENO:0085344", + "HP:0001881", + "HP:0032309", + "UBERON:5001463", + "UPHENO:0085068", + "UPHENO:0001003", + "GO:0008152", + "UPHENO:0085330", + "HP:0011893", + "HP:0020047", + "UPHENO:0084928", + "UPHENO:0088318", + "HP:0001909", + "UPHENO:0087123", + "UPHENO:0087089", + "UPHENO:0020584", + "UBERON:0004375", + "UPHENO:0085356", + "HP:0002863", + "UBERON:0002416", + "CL:0002242", + "PR:000050567", + "UPHENO:0085076", + "BFO:0000003", + "UPHENO:0006910", + "HP:0012639", + "BFO:0000002", + "HP:0008056", + "UPHENO:0086700", + "UPHENO:0086019", + "UPHENO:0011498", + "UBERON:0004120", + "UPHENO:0080662", + "HP:0000001", + "HP:0007400", + "HP:0001871", + "HP:0001875", + "UPHENO:0075195", + "CL:0000766", + "HP:0040195", + "UPHENO:0001005", + "UBERON:0004456", + "UBERON:0000468", + "UPHENO:0085984", + "HP:0007565", + "HP:0012443", + "UBERON:0034923", + "UBERON:0004288", + "HP:0002715", + "UPHENO:0085118", + "HP:0009121", + "UPHENO:0076703", + "BFO:0000001", + "UPHENO:0088166", + "UPHENO:0085354", + "UPHENO:0085371", + "CL:0000457", + "UPHENO:0088338", + "HP:0000234", + "HP:0011793", + "UPHENO:0002948", + "CL:0000081", + "HP:0000118", + "UPHENO:0002536", + "NCBITaxon:33208", + "UPHENO:0076692", + "HP:0010974", + "UPHENO:0085070", "UPHENO:0063722", - "UPHENO:0085068", - "HP:0000370", - "UPHENO:0076805", - "UPHENO:0085189", - "UPHENO:0021561", - "HP:0000315", + "HP:0001872", + "HP:0000478", + "UPHENO:0086176", + "UPHENO:0004523", + "HP:0011875", + "UPHENO:0085042", + "HP:0002664", + "HP:0011991", + "UPHENO:0074589", + "UPHENO:0076675", + "HP:0001911", + "UPHENO:0085405", + "UPHENO:0002764", + "HP:0000252", + "UBERON:0010314", + "UBERON:0001062", + "UPHENO:0088321", + "UPHENO:0035025", + "UPHENO:0074584", + "BFO:0000040", + "UBERON:0002428", + "UPHENO:0054957", + "UPHENO:0004459", + "CL:0000233", + "UBERON:0002513", + "UBERON:0011138", + "UBERON:0010708", + "UBERON:0000019", + "HP:0032251", + "UBERON:0004765", "UPHENO:0086005", - "HP:0009778", - "HP:0030680", - "UPHENO:0076779", - "UPHENO:0077872", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0002437", - "HP:0009777", - "UPHENO:0076810", - "UPHENO:0086863", - "UPHENO:0049647", - "UPHENO:0075655", - "UPHENO:0015324", - "HP:0000925", - "UPHENO:0052970", - "HP:0001626", - "HP:0000035", - "HP:0004322", - "UPHENO:0087973", - "UPHENO:0081594", - "UPHENO:0076289", - "HP:0000080", + "UBERON:0000467", + "UBERON:0011216", + "UPHENO:0076727", + "UPHENO:0086045", "UPHENO:0087472", - "HP:0000708", - "HP:0011961", - "UPHENO:0002844", - "UPHENO:0081755", - "HP:0000234", - "UPHENO:0080693", - "UPHENO:0087018", - "UPHENO:0087802", - "HP:0010662", - "UPHENO:0068843", - "UPHENO:0080209", - "UPHENO:0053588", - "UPHENO:0002240", - "UPHENO:0041226", - "UPHENO:0049985", - "UPHENO:0049701", - "HP:0000750", - "UPHENO:0053644", - "UPHENO:0087433", - "HP:0001627", - "UPHENO:0049970", - "HP:0011873", - "UPHENO:0050108", - "UPHENO:0087006", - "UPHENO:0085144", - "UPHENO:0087846", - "UPHENO:0080377", - "UPHENO:0078267", - "HP:0001000", - "UPHENO:0080382", - "HP:0012874", - "UPHENO:0002332", - "UPHENO:0086857", - "UPHENO:0049874", - "HP:0002597", - "UPHENO:0085344", - "UPHENO:0020950", - "HP:0003117", - "HP:0008056", - "UPHENO:0085194", - "UPHENO:0005597", + "UBERON:0010323", + "UPHENO:0002910", + "CL:0000000", + "UBERON:0002616", + "UPHENO:0054970", + "CL:0000763", + "HP:0000568", + "CL:0000458", "UPHENO:0088170", - "UPHENO:0081792", - "UPHENO:0002598", - "UPHENO:0012541", - "UPHENO:0079872", - "UPHENO:0002751", 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"UPHENO:0076735", - "UPHENO:0033572", - "HP:0009815", - "HP:0002246", - "HP:0002589", - "BFO:0000001", - "UPHENO:0002635", - "HP:0031072", - "HP:0012718", - "UPHENO:0080099", + "UBERON:0010230", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0001444", + "UPHENO:0068971", + "UBERON:0002104", + "HP:0025461", + "UPHENO:0076805", + "UBERON:0000047", + "UPHENO:0069523", + "UPHENO:0020888", + "GO:0008150", + "UPHENO:0075997", + "UPHENO:0012541", + ], + "has_phenotype_closure_label": [ + "Abnormal cellular physiology", + "Abnormality of metabolism/homeostasis", + "metabolic process", + "obsolete cell", + "oxygen accumulating cell", + "Abnormal erythrocyte morphology", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "skeletal element", + "subdivision of organism along appendicular axis", + "limb endochondral element", + "system", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal digit morphology", + "abnormal manual digit 1 morphology", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "pectoral complex", + "Abnormal digit morphology", + "limb skeleton subdivision", + "Abnormal finger morphology", + "arm", + "bone of appendage girdle complex", + "manual digit 1 plus metapodial segment", + "appendicular skeletal system", + "bone of free limb or fin", + "abnormal autopod region morphology", + "abnormal manual digit morphology in the independent continuant", + "segment of autopod", + "appendicular skeleton", + "upper limb segment", + "digit 1", + "paired limb/fin", + "abnormal limb morphology", + "Abnormality of limb bone morphology", + "abnormal forelimb morphology", + "manual digitopodium region", + "appendage girdle complex", + "Abnormality of limbs", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the manus", + "abnormal manus morphology", + "acropodium region", + "digitopodium region", + "forelimb", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal digit", + "cellular organisms", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "regional part of nervous system", + "forebrain", + "abnormal craniocervical region morphology", + "endochondral bone", + "subdivision of skeleton", + "skin of body", + "skull", + "Abnormality of the skeletal system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "decreased size of the anatomical entity", + "multi-tissue structure", + "Myelodysplasia", + "immune system", + "appendage", + "root", + "myeloid cell", + "hemolymphoid system", + "hematopoietic cell", + "Abnormality of the face", + "eukaryotic cell", + "integument", + "autopod region", + "organism", + "anatomical system", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "Abnormality of the hand", + "Hematological neoplasm", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "Eukaryota", + "Eumetazoa", + "abnormal cell", + "abnormally decreased number of cell", + "skeleton", + "neutrophil", + "Morphological central nervous system abnormality", + "Abnormal granulocyte morphology", + "Abnormal leukocyte count", + "abnormal myeloid leukocyte morphology", + "abnormal skull morphology", + "Abnormal platelet morphology", + "mesoderm-derived structure", + "abnormal head morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "Neoplasm by anatomical site", + "quality", + "Abnormal cell morphology", + "phenotype", + "anatomical entity", + "Abnormality of the skin", + "anatomical structure", + "organism subdivision", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal hematopoietic cell morphology", + "bone element", + "abnormally decreased number of leukocyte", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal neutrophil count", + "Abnormality of neutrophils", + "Abnormality of skull size", + "multicellular anatomical structure", + "skeletal system", + "motile cell", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "autopodial extension", + "abnormal face", + "manual digit 1 or 5", + "Neoplasm", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "Macule", + "Abnormal cellular phenotype", + "abnormal phenotype by ontology source", + "erythrocyte", + "organ system subdivision", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "disconnected anatomical group", + "abnormal hematopoietic system", + "Abnormality of blood and blood-forming tissues", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "abnormal anatomical entity", + "abnormal immune system", + "abnormally decreased number of cell in the independent continuant", + "Neutropenia", + "nucleate cell", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "serotonin secreting cell", + "Anemia", + "camera-type eye", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal number of anatomical enitites of type granulocyte", + "non-connected functional system", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormal manual digit morphology in the manus", + "blood cell", + "digit", + "Hyperpigmentation of the skin", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "abnormal granulocyte morphology", + "abnormal craniocervical region", + "skeleton of limb", + "Abnormality of skin pigmentation", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", + "anucleate cell", + "hematopoietic system", + "multicellular organism", + "Abnormality of the orbital region", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "segment of manus", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormality of head or neck", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "manual digit", + "Abnormal eye morphology", + "central nervous system", + "regional part of brain", + "nervous system", + "abnormal orbital region", + "Growth abnormality", + "face", + "Abnormality of the eye", + "musculoskeletal system", + "Abnormality of the integument", + "abnormal skin of body", + "craniocervical region", + "Leukemia", + "entity", + "subdivision of skeletal system", + "axial skeletal system", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormality of skin morphology", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "Irregular hyperpigmentation", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", + "abnormal postcranial axial skeleton morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal cell morphology", + "abnormal nervous system morphology", + "platelet", + "telencephalon", + "Abnormality of limb bone", + "head", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "subdivision of organism along main body axis", + "main body axis", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Metazoa", + "abnormal size of skull", + "Decreased head circumference", + "delayed growth", + "abnormal telencephalon morphology", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "body proper", + "pectoral appendage", + "organ", + "occurrent", + "delayed biological_process", + "abnormal biological_process", + "Growth delay", + "independent continuant", + "abnormal leukocyte morphology", + "abnormal growth", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet", + "Abnormal hand morphology", + "Localized skin lesion", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal face morphology", + "integumental system", + "increased pigmentation", + "increased pigmentation in independent continuant", + "Abnormality of globe size", + "Microcephaly", + "changed biological_process rate in independent continuant", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "Cafe-au-lait spot", + "abnormal pigmentation in independent continuant", + "abnormal skin of body morphology", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Hypermelanotic macule", + "increased biological_process in independent continuant", + "Abnormality of the upper limb", + "cell", + "limb", + "increased pigmentation in skin of body", + "abnormal pigmentation", + "biogenic amine secreting cell", + "simple eye", + "abnormal eyeball of camera-type eye", + "lateral structure", + "abnormal integument", + "eyeball of camera-type eye", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "Multiple cafe-au-lait spots", + "abnormal skeletal system", + "Microphthalmia", + "orbital region", + "paired limb/fin segment", + "Opisthokonta", + "eye", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of brain morphology", + "subdivision of head", + "continuant", + "entire sense organ system", + "abnormal anatomical entity morphology in the brain", + "visual system", + "pigmentation", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal arm", + "manus", + "abnormal limb", + "abnormal immune system morphology", + "manual digit 1", + ], + }, + { + "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.", + "xref": [ + "DOID:0111089", + "GARD:17449", + "MESH:C563980", + "NCIT:C125705", + "OMIM:605724", + "Orphanet:319462", + "SCTID:766707003", + "UMLS:C1838457", + ], + "provided_by": "phenio_nodes", + "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:0000957", + "HP:0002023", + "HP:0000252", + "HP:0004808", + "HP:0009778", + "HP:0005528", + "HP:0001511", + "HP:0003221", + "HP:0001508", + "HP:0004322", + "HP:0006727", + ], + "has_phenotype_label": [ + "Cafe-au-lait spot", + "Anal atresia", + "Microcephaly", + "Acute myeloid leukemia", + "Short thumb", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Chromosomal breakage induced by crosslinking agents", + "Failure to thrive", + "Short stature", + "T-cell acute lymphoblastic leukemias", + ], + "has_phenotype_count": 11, + "has_phenotype_closure": [ + "HP:0006727", + "HP:0006721", + "UPHENO:0081424", + "HP:0000002", + "UPHENO:0080351", + "HP:0004325", + "UPHENO:0082761", + "UPHENO:0010795", "UPHENO:0010763", - 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"UPHENO:0087123", - "HP:0001631", - "UPHENO:0085410", - "UPHENO:0088319", - "UPHENO:0088321", - "HP:0002715", - "HP:0010460", - "UPHENO:0035025", - "HP:0005561", + "UPHENO:0087355", + "UBERON:0004375", + "UPHENO:0052178", + "UBERON:0011582", + "UBERON:0004708", + "UPHENO:0079876", + "UPHENO:0086700", + "UPHENO:0012541", + "UPHENO:0049700", + "HP:0005927", + "HP:0002817", + "HP:0001172", + "UPHENO:0012274", + "GO:0006325", + "UPHENO:0052778", + "HP:0011927", + "UBERON:0011249", + "HP:0040068", + "HP:0011297", + "UPHENO:0084761", + "HP:0006265", + "HP:0001155", + "UPHENO:0087006", + "HP:0005922", + "GO:0046483", + "UPHENO:0084766", + "GO:0040007", + "UBERON:0001460", + "UBERON:0002529", + "UPHENO:0087907", + "UPHENO:0020584", + "UBERON:0002091", + "UPHENO:0046411", + "HP:0000924", "HP:0010987", - "HP:0011893", - "HP:0002977", - "HP:0000812", - "UPHENO:0086635", - "HP:0000240", - "HP:0000252", - "UPHENO:0086855", - "UPHENO:0081628", + "GO:0032502", + "UBERON:0001440", + "UPHENO:0084763", + "GO:0044238", + "UPHENO:0001001", + "UPHENO:0069254", "UPHENO:0075220", - 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"HP:0000050", - "UPHENO:0054970", - "UPHENO:0082682", - "HP:0000002", - "UPHENO:0076740", + "UBERON:0004120", + "UBERON:0010707", + "BFO:0000015", + "UBERON:0019221", + "UBERON:0000062", + "UPHENO:0076803", + "BFO:0000020", + "UBERON:0001555", + "UPHENO:0059829", + "UBERON:0004121", + "UBERON:0010740", + "UBERON:0002416", + "HP:0000001", + "UBERON:0001442", + "GO:0043473", + "HP:0025033", "HP:0000953", - "UPHENO:0003020", - "UPHENO:0002725", - "UPHENO:0069523", - "HP:0000125", - "UPHENO:0002910", - "HP:0000568", - "HP:0030962", - "UPHENO:0020041", - "HP:0000271", - "HP:0000478", - "HP:0100887", - "HP:0012252", - "HP:0012647", - "HP:0002090", - "HP:0012649", - "UPHENO:0086908", - "UPHENO:0076812", - "UPHENO:0074685", - "HP:0010978", - "UPHENO:0074589", - "UPHENO:0076684", - "UPHENO:0074804", - "UPHENO:0015329", - "UPHENO:0004536", - "UPHENO:0002827", - "UPHENO:0082723", - "UPHENO:0086700", - "UPHENO:0020748", - "HP:0011994", - "UPHENO:0074722", + "NCBITaxon:6072", + "UPHENO:0020888", + "GO:0008150", + "HP:0045060", + "UBERON:0000468", + "UBERON:0001463", + "UBERON:0001245", + "UPHENO:0002635", + "UBERON:0010712", + "UPHENO:0087089", + "UPHENO:0086644", + "HP:0011355", + "UPHENO:0075195", + "UBERON:0002097", + "HP:0000252", + "UPHENO:0085195", + "UBERON:0012475", + "HP:0001574", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0088186", + "UPHENO:0001002", + "HP:0000152", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0002470", + "UPHENO:0074584", + "BFO:0000040", + "BFO:0000004", + "GO:0048856", + "UPHENO:0003811", + "GO:0060255", + "UPHENO:0082682", + "HP:0000118", + "GO:0007275", + "HP:0034915", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0002616", + "UPHENO:0054970", + "CL:0000000", + "UPHENO:0080221", + "HP:0001034", + "HP:0000957", + "OBI:0100026", + "UPHENO:0087518", + "UPHENO:0050008", + "UPHENO:0060026", + "UBERON:0001016", + "UPHENO:0080377", + "UBERON:0011216", + "UBERON:0007811", + "UPHENO:0050121", + "GO:0009790", + "UPHENO:0074572", + "NCBITaxon:1", + "UPHENO:0054261", + "UBERON:0006717", + "UPHENO:0001003", + "GO:0016043", + "HP:0002011", + "UPHENO:0074575", + "HP:0007364", + "UPHENO:0076739", + "BFO:0000003", + "GO:0010556", + "PR:000050567", + "UBERON:5002389", + "HP:0012733", + "UPHENO:0002905", + "HP:0009121", + "UPHENO:0002764", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "UBERON:0002101", + "UPHENO:0002964", + "HP:0002813", + "UBERON:0013702", + "NCBITaxon:33154", + "UPHENO:0022529", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0076702", + "HP:0001000", + "UBERON:0012354", + "UPHENO:0076692", + "UPHENO:0002536", + "NCBITaxon:33208", + "UBERON:0001890", + "UPHENO:0080200", + "UBERON:0005944", + "UBERON:0034925", + "UPHENO:0050108", + "UPHENO:0085144", + "UBERON:0004288", + "UBERON:0034923", + "HP:0040012", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0063565", + "UBERON:0010912", + "UPHENO:0087123", + "HP:0001909", + "UPHENO:0031839", + "UBERON:0010000", + "UBERON:0002390", "HP:0000707", - "UPHENO:0049748", - "UPHENO:0050021", - "HP:0000009", - "UPHENO:0050845", - "HP:0001939", - "HP:0003221", - "UPHENO:0083648", + "UPHENO:0086172", + "HP:0009115", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0081436", + "HP:0001881", + "HP:0032251", + "HP:0004808", + "UPHENO:0002948", + "UBERON:0002544", + "CL:0000255", + "GO:0010558", + "UBERON:0008785", + "GO:0071704", + "CL:0000219", + "CL:0002242", + "UBERON:0002199", + "UBERON:0002193", + "UPHENO:0086633", + "HP:0006496", + "UBERON:0001434", + "HP:0009778", + "UPHENO:0053208", + "UBERON:0002102", + "UBERON:0004111", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0002398", + "HP:0040064", + "HP:0001167", + "UBERON:0000061", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "GO:1901360", + "UPHENO:0002830", + "UBERON:0015212", + "UPHENO:0081435", + "UBERON:5006048", + "GO:0006259", + "UBERON:0001474", + "UBERON:0010538", + "UBERON:0004710", + "UPHENO:0084448", + "GO:0044237", + "HP:0002977", + "UBERON:0010363", + "UBERON:0006058", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "HP:0033127", + "UPHENO:0086635", + "UBERON:0012139", + "UBERON:0010323", + "UPHENO:0046707", + "HP:0009601", + "UBERON:0000955", + "HP:0000929", + "UBERON:0000073", + "RO:0002577", "HP:0011017", - "HP:0010936", - "UPHENO:0002806", - "HP:0000069", - "UPHENO:0075852", - "HP:0000014", - "UPHENO:0075933", - "HP:0031073", - "UPHENO:0076765", - "HP:0025015", - "UPHENO:0086797", - "HP:0012130", - "UPHENO:0033603", - "HP:0033353", - "UPHENO:0076729", - "HP:0000830", - "HP:0001643", - "UPHENO:0087339", - "UPHENO:0063629", - "UPHENO:0085195", - "HP:0031071", - "HP:0005528", + "UBERON:0012141", + "UPHENO:0002708", + "UPHENO:0046505", + "UBERON:5002544", + "NCBITaxon:131567", + "UPHENO:0076723", + "UBERON:0010708", + "CL:0000738", + "UBERON:0005881", + "UPHENO:0068971", + "UPHENO:0076727", + "UBERON:0004381", + "UBERON:0007272", + "UPHENO:0054957", + "UPHENO:0004459", + "UBERON:0002428", + "NCBITaxon:2759", + "UBERON:0002389", + "UBERON:5001463", + "GO:0031323", + "UBERON:0011138", + "UBERON:0002513", ], "has_phenotype_closure_label": [ - "Placental abruption", - "Abnormal placenta morphology", - "abnormal female reproductive system", - "abnormal amniotic fluid", - "Abnormality of the amniotic fluid", - "Short stature", - "abnormality of anatomical entity height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "T-cell acute lymphoblastic leukemias", "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "decreased size of the multicellular organism", + "decreased height of the multicellular organism", "Abnormality of body height", - "abnormal size of multicellular organism", - "abnormal manual digit 2 morphology", - "Abnormal 2nd finger morphology", - "abnormally fused manual digit 2 and manual digit 3", - "Finger syndactyly", - "abnormally fused anatomical entity and manual digit 3", - "Syndactyly", - "abnormally fused digit and anatomical entity", - "2-3 finger syndactyly", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormally fused digit and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormally fused anatomical entity and digit", - "Renal hypoplasia", - "decreased size of the kidney", - "Fetal ultrasound soft marker", - "abnormal late embryo", - "Single umbilical artery", - "abnormal umbilical cord", - "Abnormality of the umbilical cord", - "Abnormal umbilical cord blood vessel morphology", - "Decreased body weight", - "abnormality of anatomical entity mass", "Failure to thrive", + "abnormality of anatomical entity mass", + "decreased multicellular organism mass", + "Abnormality of body weight", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "Sacral dimple", - "abnormally decreased number of myeloid cell", - "Abnormal cardiac atrium morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Congenital malformation of the great arteries", - "Abnormal platelet count", - "abnormal sensory perception of sound", - "abnormal platelet morphology", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "Short digit", - "Short thumb", - "Intrauterine growth retardation", - "abnormal vascular system morphology", - "Short finger", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", + "Chromosomal breakage induced by crosslinking agents", "abnormal cellular metabolic process", - "abnormal cardiac atrium morphology", - "abnormal hypothalamus-pituitary axis", - "abnormal cardiac septum morphology", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "abnormally localised anatomical entity", - "Abnormality of the genital system", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "Abnormal penis morphology", - "abnormal number of anatomical enitites of type sperm", - "absent sperm", - "abnormally localised anatomical entity in independent continuant", - "absent sperm in the independent continuant", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal male reproductive system", - "decreased qualitatively developmental process", - "abnormal ureter", - "Abnormality of male external genitalia", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "Polyhydramnios", + "regulation of macromolecule biosynthetic process", + "negative regulation of biosynthetic process", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular metabolic process", + "cellular component organization or biogenesis", + "abnormal primary metabolic process", + "programmed DNA elimination", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "metabolic process", + "obsolete cell", + "abnormal programmed DNA elimination by chromosome breakage", + "delayed growth", + "abnormal embryo development", + "Growth delay", + "embryo development", + "anatomical structure development", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "delayed biological_process", + "decreased embryo development", + "developmental process", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "Acute lymphoblastic leukemia", + "growth", + "programmed DNA elimination by chromosome breakage", + "Growth abnormality", + "abnormal hematopoietic system morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "skeleton of manus", + "limb bone", + "Bone marrow hypocellularity", + "skeletal element", + "subdivision of organism along appendicular axis", + "autopodial skeleton", + "limb endochondral element", + "bone marrow cell", + "system", "abnormal anatomical entity morphology in the pectoral complex", - "Thrombocytopenia", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "Abnormal external genitalia", - "Abnormal myeloid cell morphology", - "abnormal interatrial septum morphology", - "Abnormal ear physiology", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal postcranial axial skeleton morphology", - "abnormal diencephalon", - "abnormal incomplete closing of the interatrial septum", - "penis hypoplasia", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "decreased growth hormone secretion", - "abnormally fused manual digit and anatomical entity", - "Abnormality of head or neck", - "abnormality of anatomical entity physiology", - "abnormally fused manual digit and manual digit", - "anatomical entity atresia", - "abnormal cell", - "Abnormal testis morphology", - "abnormal reproductive process", - "abnormal multicellular organismal reproductive process", - "abnormal internal genitalia", - "abnormal gamete generation", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "decreased length of anatomical entity in independent continuant", - "changed biological_process rate in independent continuant", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "abnormal lung morphology", - "decreased length of forelimb zeugopod bone", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal male reproductive system physiology", - "decreased length of anatomical entity", - "abnormally decreased number of cell", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "abnormal growth hormone secretion", - "Abnormality of the vasculature", - "Absent thumb", - "abnormal ear", - "abnormal blood cell", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the multicellular organism", - "decreased sensory perception of sound", - "abnormality of middle ear physiology", - "Abnormality of limb bone", - "Abnormal small intestine morphology", - "Abnormal fetal morphology", - "abnormal intestine morphology", - "Abnormal cerebral morphology", - "abnormal blood vessel morphology", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal digit morphology", - "decreased qualitatively reproductive process", - "abnormal localization", - "Language impairment", - "Anemia", - "Abnormality of the hand", - "decreased size of the external ear", - "phenotype by ontology source", - "abnormal endocrine gland morphology", - "Microtia", - "Azoospermia", - "Aplasia/Hypoplasia of the ear", - "continuant", - "abnormal manus", - "aplasia or hypoplasia of ear", - "abnormal sensory perception", - "Abnormal fetal cardiovascular morphology", - "Cryptorchidism", - "abnormal artery morphology in the independent continuant", "abnormal digit morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "decreased size of the anatomical entity in the independent continuant", + "decreased length of digit", "aplasia or hypoplasia of manual digit 1", - "entity", - "abnormal testis morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "abnormal reproductive system morphology", - "changed biological_process rate in brain", - "abnormal blood cell morphology", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased multicellular organism mass", + "abnormal manus", + "Short finger", + "digit plus metapodial segment", + "central nervous system", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "Morphological central nervous system abnormality", + "Abnormality of the musculoskeletal system", + "abnormal anatomical entity morphology in the brain", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", "Aplasia/Hypoplasia involving the central nervous system", - "bone element hypoplasia in independent continuant", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal erythroid lineage cell morphology", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "decreased length of manual digit 1", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "Abnormal spermatogenesis", - "Abnormal morphology of the great vessels", - "decreased length of long bone", + "aplasia or hypoplasia of anatomical entity", + "organism subdivision", + "skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Abnormal skull morphology", + "regional part of nervous system", + "forebrain", + "skin of body", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "leukocyte", + "abnormal size of anatomical entity", + "abnormal forebrain morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "abnormal nervous system", + "Anal atresia", + "anatomical entity atresia", + "abnormal head morphology", + "manual digit", + "abnormal anus", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "Abnormality of the head", + "anatomical conduit", + "anatomical structure", + "decreased anatomical entity mass", + "craniocervical region", + "protein-DNA complex organization", + "Abnormal anus morphology", + "hematopoietic cell", + "regional part of brain", + "abnormal craniocervical region morphology", + "continuant", + "anus", + "multi-tissue structure", + "Abnormality of the immune system", + "abnormal developmental process", + "tube", + "DNA metabolic process", + "orifice", + "Abnormal leukocyte morphology", + "digestive system", + "paired limb/fin", + "abnormal manual digit morphology in the independent continuant", + "digestive tract", + "changed developmental process rate", + "lateral structure", + "abnormal digestive system", + "abnormal closing of the anatomical entity", + "abnormal skull morphology", + "brain", "abnormal anatomical entity morphology in the independent continuant", - "absent manual digit", - "abnormal phenotype by ontology source", - "alimentary part of gastrointestinal system atresia", - "Morphological abnormality of the gastrointestinal tract", - "abnormal gland morphology", - "abnormal immune system morphology", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Abnormality of the integument", - "absent germ cell", - "Abnormal response to endocrine stimulation test", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "musculoskeletal system", "Abnormality of bone marrow cell morphology", - "Short forearm", - "delayed biological_process", - "Pneumonia", - "Abnormal cardiac septum morphology", - "abnormal transport", - "Hypoplasia of the radius", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "abnormal skeletal system morphology", - "abnormal biological_process in central nervous system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "abnormal small intestine", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "abnormal penis", - "abnormality of ureter physiology", - "abnormal penis morphology", - "decreased length of manual digit", - "abnormal developmental process", - "abnormal hormone independent continuant level", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormality of reproductive system physiology", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "Abnormality of the endocrine system", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "All", - "increased qualitatively biological_process", - "decreased developmental process", - "abnormal response to stress", - "agenesis of anatomical entity", - "Skin dimple", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "abnormal ductus arteriosus morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal face morphology", - "abnormal myeloid cell morphology", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "aplastic anatomical entity", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limbs", - "Hypopituitarism", - "Delayed speech and language development", - "Hypoplasia of penis", - "Abnormality of limb bone morphology", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "absent gamete", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal limb", - "abnormally fused manual digit 2 and anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal ear morphology", - "anatomical entity hypoplasia", - "Abnormality of the ureter", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal digit", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormal cell morphology", + "phenotype", + "appendage", + "root", + "immune system", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "quality", + "phenotype by ontology source", "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal forearm bone morphology", + "biological_process", + "abnormal biological_process", + "decreased qualitatively growth", + "abnormal integument", + "abnormal digestive system morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "hematopoietic system", + "multicellular organism", + "increased pigmentation", + "increased pigmentation in independent continuant", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multicellular anatomical structure", + "cranial skeletal system", + "autopodial extension", + "abnormal pigmentation", + "anatomical system", + "abnormal phenotype by ontology source", + "Abnormality of skull size", + "pectoral complex", + "organ", + "occurrent", + "abnormal anatomical entity", + "integumental system", "abnormal pigmentation in independent continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", + "arm", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "Irregular hyperpigmentation", "abnormal skeletal system", - "abnormal external ear morphology", - "Microphthalmia", - "Fetal anomaly", + "integument", + "eukaryotic cell", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "radius bone hypoplasia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal axial skeleton morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "abnormal location of anatomical entity", - "Gastrointestinal atresia", + "decreased developmental process", + "axial skeletal system", + "nervous system", + "Abnormality of head or neck", + "Abnormal hand morphology", + "Localized skin lesion", + "material entity", "Macule", - "abnormal fused sacrum morphology", - "abnormal role bodily fluid level", - "aplasia or hypoplasia of external ear", - "abnormal integument", - "Sacrococcygeal pilonidal abnormality", - "intestine atresia", - "Abnormal endocrine physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal forelimb zeugopod bone", - "duodenum atresia", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal male reproductive system morphology", - "phenotype", - "abnormal placenta", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", - "Abnormality of the gastrointestinal tract", - "Aplasia/Hypoplasia of the radius", - "abnormal digestive system", - "decreased growth", - "increased qualitatively inflammatory response", - "Abnormal duodenum morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal coronary vessel morphology", - "Abnormal atrial septum morphology", - "abnormal heart morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal opening of the anatomical entity", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "Decreased anatomical entity mass", - "Neoplasm by anatomical site", - "Abnormality of the upper limb", - "Duodenal atresia", - "forelimb zeugopod bone hypoplasia", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormally decreased number of leukocyte", - "Abnormality of the ear", - "Abnormal pituitary gland morphology", - "Intestinal atresia", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "decreased size of the anatomical entity in the independent continuant", - "abnormal renal system morphology", - "abnormal reproductive system", - "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of chromosome stability", - "Limb undergrowth", - "abnormal upper urinary tract", - "Abnormality of the eye", - "abnormality of male reproductive system physiology", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal renal system", - "Ectopic kidney", - "Abnormality of the lower urinary tract", - "Abnormal localization of kidney", - "abnormal adenohypophysis", - "Growth abnormality", - "abnormal orbital region", - "Abnormality of the kidney", - "decreased biological_process in pituitary gland", - "abnormal eyeball of camera-type eye", - "Abnormality of the upper urinary tract", - "Pelvic kidney", - "abnormality of nervous system physiology", - "Abnormal cellular physiology", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "Hearing abnormality", + "abnormal size of multicellular organism", + "bone element", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Cafe-au-lait spot", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", "abnormal anatomical entity morphology in the manus", - "abnormal role blood level", - "Conductive hearing impairment", - "abnormal middle ear", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal vasculature", - "abnormal head morphology", - "decreased vibrational conductance of sound to the inner ear", + "Decreased anatomical entity mass", + "manual digitopodium region", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "Abnormality of the skin", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal bone marrow morphology", + "Hypermelanotic macule", + "abnormal skin of body morphology", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", "Abnormal forebrain morphology", - "Functional abnormality of the middle ear", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "anus atresia", + "Microcephaly", + "changed biological_process rate in independent continuant", + "All", + "increased qualitatively biological_process", + "anatomical collection", + "skeletal system", + "motile cell", + "organic cyclic compound metabolic process", + "multicellular organism development", + "segment of autopod", + "process", + "organ system subdivision", + "Abnormality of the anus", + "material anatomical entity", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "nucleate cell", + "Abnormal finger morphology", + "Decreased body weight", + "decreased qualitatively developmental process", + "postcranial axial skeleton", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "aplasia or hypoplasia of telencephalon", + "Short digit", + "Acute myeloid leukemia", + "abnormal cell morphology", + "abnormal nervous system morphology", + "telencephalon", + "Hyperpigmentation of the skin", + "digit", + "anterior region of body", + "entity", + "subdivision of skeletal system", + "Leukemia", + "appendicular skeleton", + "upper limb segment", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", "abnormal head", - "absent anatomical entity in the forelimb", - "abnormality of ear physiology", - "abnormal ear morphology", - "abnormal endocrine system", - "absent digit", - "Respiratory tract infection", + "subdivision of skeleton", + "endochondral bone", + "subdivision of organism along main body axis", + "main body axis", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa", + "abnormal size of skull", + "digit 1 plus metapodial segment", + "Decreased head circumference", + "abnormal telencephalon morphology", + "body proper", + "pectoral appendage", + "paired limb/fin segment", + "Opisthokonta", + "decreased length of manual digit", + "Eukaryota", + "Eumetazoa", + "manual digit plus metapodial segment", + "abnormal hematopoietic system", "Neoplasm", - "Abnormal intestine morphology", - "decreased qualitatively biological_process in independent continuant", - "abnormal endocrine system morphology", - "Abnormality of the respiratory system", + "manual digit 1 or 5", + "manual digit 1 plus metapodial segment", + "Abnormal cellular phenotype", + "decreased growth", + "disconnected anatomical group", + "bone cell", "Aplasia/Hypoplasia of the thumb", - "decreased secretion in pituitary gland", - "abnormal secretion in independent continuant", - "abnormal nervous system", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal forebrain morphology", - "abnormality of reproductive system physiology", - "Abnormal heart morphology", - "Abnormality of the bladder", - "abnormal multicellular organism chemical entity level", - "abnormal pituitary gland morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal cellular process", - "Abnormal communication", - "Abnormality of brain morphology", - "abnormal bone of pectoral complex morphology", - "decreased qualitatively biological_process in central nervous system", - "decreased secretion in independent continuant", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal endocrine morphology", - "decreased biological_process in brain", - "abnormal secretion by cell", - "abnormality of endocrine system physiology", - "Decreased response to growth hormone stimulation test", - "increased inflammatory response in lung", - "Abnormality of the diencephalon", - "abnormal behavior", - "abnormal independent continuant chemical entity level", - "Abnormality of metabolism/homeostasis", - "abnormal chemical entity level", - "abnormal inflammatory response", - "Abnormal circulating hormone concentration", - "abnormal hormone blood level", - "Abnormalities of placenta or umbilical cord", - "abnormal size of skull", - "Anterior hypopituitarism", - "decreased size of the penis", - "abnormal role independent continuant level", - "decreased size of the anatomical entity", - "Specific learning disability", - "abnormal biological_process in independent continuant", - "Abnormality of the anterior pituitary", - "quality", - "decreased biological_process in multicellular organism", - "abnormal diencephalon morphology", - "Abnormal growth hormone level", - "decreased qualitatively growth", - "abnormally decreased number of hematopoietic cell", - "Abnormal inflammatory response", - "abnormal neuroendocrine gland morphology", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "abnormal umbilical blood vessel morphology", - "decreased embryo development", - "abnormal biological_process", - "Growth delay", + "mesoderm-derived structure", + "non-connected functional system", "abnormal growth", - "abnormally fused anatomical entity and manual digit", + "independent continuant", "abnormal leukocyte morphology", - "increased biological_process", - "abnormal external ear", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "external ear hypoplasia", - "Abnormal eye morphology", - "abnormal gamete", - "Abnormality of the outer ear", - "abnormal great vessel of heart morphology", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal skin of body", - "Neurodevelopmental delay", - "Atypical behavior", - "abnormal closing of the anatomical entity", - "abnormal response to stimulus", - "Short long bone", - "abnormal skull morphology", - "Neurodevelopmental abnormality", - "Abnormality of speech or vocalization", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", + "Abnormal immune system morphology", + "organism", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", "abnormal immune system", - "Leukopenia", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Renal hypoplasia/aplasia", - "abnormal size of kidney", - "abnormal lower urinary tract", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of cell in the independent continuant", - "Decreased head circumference", - "abnormal telencephalon morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "abnormal urinary bladder", - "Abnormal skull morphology", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "increased pigmentation in independent continuant", - "Abnormality of the head", - "abnormal pigmentation", - "decreased size of the external male genitalia", - "Abnormal ureter physiology", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "Abnormality of skin pigmentation", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", + "abnormal bone marrow cell", + "Acute leukemia", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "hemolymphoid system", "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Hyperpigmentation of the skin", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "Abnormality of the orbital region", - "Abnormality of the face", - "increased inflammatory response in independent continuant", - "Abnormality of the middle ear", - "abnormality of urinary bladder physiology", - "Abnormality of immune system physiology", - "Abnormal lung morphology", - "Abnormality of prenatal development or birth", - "increased inflammatory response", - "increased qualitatively response to stimulus", - "abnormal autopod region morphology", - "increased qualitatively inflammatory response in independent continuant", - "Increased inflammatory response", - "abnormal primary metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal metabolic process", - "Abnormality of multiple cell lineages in the bone marrow", - "specifically dependent continuant", - "increased biological_process in lung", - "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal respiratory system morphology", - "abnormal organelle organization", - "abnormal nitrogen compound metabolic process", - "Functional abnormality of the bladder", + "pigmentation", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "abnormal arm", + "Abnormality of digestive system morphology", + "manus", + "abnormal limb", + "abnormal skeletal system morphology", + "protein-containing material entity", + "segment of manus", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "bone marrow", + "acropodium region", + "pectoral appendage skeleton", + "abnormal manus morphology", + "abnormal development of anatomical entity", + "cellular organisms", + "abnormal digit", + "Abnormal nervous system morphology", + "abnormal limb bone", + "increased biological_process in independent continuant", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal appendicular skeleton morphology", + "abnormal postcranial axial skeleton morphology", "abnormal anatomical entity length", - "Vesicoureteral reflux", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "Abnormal blood vessel morphology", - "abnormal systemic artery morphology", - "abnormal bone marrow cell morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "abnormal embryo development", - "Microphallus", - "abnormal vertebral column morphology", - "abnormal external male genitalia morphology", - "External genital hypoplasia", + "Abnormality of limbs", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "skull", + "decreased length of anatomical entity", + "abnormal forelimb morphology", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal limb morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "Hematological neoplasm", + "Abnormality of the hand", + "appendicular skeletal system", + "digit 1 or 5", + "limb skeleton subdivision", + "forelimb skeleton", + "cell", + "limb", + "Abnormality of the upper limb", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "head", + "Abnormality of limb bone", + "endochondral element", + "multi-limb segment region", + "Intrauterine growth retardation", + "changed embryo development rate", + "abnormal manual digit 1 morphology", + "Short thumb", + "abnormal limb bone morphology", ], }, { - "id": "MONDO:0013566", + "id": "MONDO:0010351", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group L", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "name": "Fanconi anemia complementation group B", + "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", + "xref": [ + "DOID:0111098", + "GARD:15257", + "MESH:C564497", + "NCIT:C125703", + "OMIM:300514", + "UMLS:C1845292", + ], "provided_by": "phenio_nodes", "synonym": [ - "FANCL", - "FANCL Fanconi anaemia", - "FANCL Fanconi anemia", - "Fanconi Anemia, complementation Group 50", - "Fanconi Anemia, complementation group type 50", - "Fanconi anaemia caused by mutation in FANCL", - "Fanconi anaemia complementation group type L", - "Fanconi anemia caused by mutation in FANCL", - "Fanconi anemia complementation group L", - "Fanconi anemia complementation group type L", - "Fanconi anemia, complementation group L", + "FA2", + "FACB", + "FANCB", + "Fanconi Anemia, complementation group type B", + "Fanconi anaemia complementation group type B", + "Fanconi anemia complementation group B", + "Fanconi anemia complementation group type B", + "Fanconi anemia, complementation group B", + "Fanconi anemia, complementation group B, X-linked recessive", + "Fanconi pancytopenia type 2", + "Fanconi pancytopenia, type 2", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", - "HP:0000582", - "HP:0008551", "HP:0000470", "HP:0009777", - "HP:0004590", "HP:0002575", + "HP:0001249", + "HP:0007766", "HP:0000238", "HP:0000369", - "HP:0000465", - "HP:0000957", - "HP:0002023", - "HP:0000316", + "HP:0002101", "HP:0001510", - "HP:0001776", - "HP:0000347", - "HP:0003974", - "HP:0001511", - "HP:0009892", - "HP:0000151", - "HP:0001263", - "HP:0003221", + "HP:0000815", + "HP:0002247", + "HP:0002119", + "HP:0000104", + "HP:0001873", + "HP:0001915", + "HP:0001680", "HP:0002032", - "HP:0011968", + "HP:0003220", "HP:0001321", - "HP:0000175", + "HP:0002079", "HP:0000054", - "HP:0000437", - "HP:0001903", - "HP:0000122", + "HP:0000396", + "HP:0003468", + "HP:0000135", + "HP:0004977", + "HP:0001643", + "HP:0001629", + "HP:0001195", "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089", + "HP:0001511", ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", - "Microtia", "Short neck", "Absent thumb", - "Hypoplastic sacrum", "Tracheoesophageal fistula", + "Intellectual disability", + "Optic disc hypoplasia", "Hydrocephalus", "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", + "Abnormal lung lobation", "Growth delay", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", + "Hypergonadotropic hypogonadism", + "Duodenal atresia", + "Ventriculomegaly", + "Renal agenesis", + "Thrombocytopenia", + "Aplastic anemia", + "Coarctation of aorta", "Esophageal atresia", - "Feeding difficulties", + "Abnormality of chromosome stability", "Cerebellar hypoplasia", - "Cleft palate", + "Hypoplasia of the corpus callosum", "Micropenis", - "Depressed nasal tip", - "Anemia", - "Unilateral renal agenesis", + "Overfolded helix", + "Abnormal vertebral morphology", + "Hypogonadism", + "Bilateral radial aplasia", + "Patent ductus arteriosus", + "Ventricular septal defect", + "Single umbilical artery", "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia", + "Intrauterine growth retardation", ], - "has_phenotype_count": 36, + "has_phenotype_count": 30, "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0087355", - "UPHENO:0085195", - "UPHENO:0002948", - "UPHENO:0087278", - "HP:0000422", - "HP:0000431", - "UPHENO:0081800", - "HP:0000568", - "HP:0008056", - "UPHENO:0075219", - "UPHENO:0069523", - "UPHENO:0000552", - "UPHENO:0050372", - "HP:0012447", - "UPHENO:0050406", - "HP:0002715", - "HP:0002188", - "UPHENO:0062527", - "HP:0012448", - "UPHENO:0084007", - "UPHENO:0008593", - "HP:0000079", - "HP:0012210", - "HP:0010935", - "HP:0012130", - "UPHENO:0084928", - "HP:0001871", - "HP:0001877", - "HP:0001903", - "UPHENO:0041458", - "HP:0000366", - "HP:0000436", - "UPHENO:0088168", - "UPHENO:0082467", - "UPHENO:0002597", - "HP:0000054", - "HP:0003241", - "HP:0008736", - "UPHENO:0000553", - "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "HP:5201015", - "HP:0000202", - "HP:0000174", - "UPHENO:0006147", - "UPHENO:0087585", - "UPHENO:0033572", - "UPHENO:0080089", - "HP:0001321", - "UPHENO:0068984", - "UPHENO:0087548", - "UPHENO:0033635", - "HP:0002977", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0081099", - "HP:0011458", - "HP:0011968", - "HP:0000811", - "HP:0025032", - "UPHENO:0063639", - "HP:0002589", - "UPHENO:0063603", - "HP:0003221", - "HP:0000078", - "UPHENO:0003055", - "HP:0010460", - "HP:0000151", - "UPHENO:0002598", - "UPHENO:0087974", - "UPHENO:0020950", - "UPHENO:0009305", - "UPHENO:0087339", - "UPHENO:0026954", - "UPHENO:0026984", - "UPHENO:0025708", - "HP:0008678", - "UPHENO:0052178", - "HP:0012145", + "GO:0009790", "UPHENO:0080393", - "UPHENO:0075902", - "UPHENO:0081436", - "UPHENO:0085144", - "HP:0000309", - "UPHENO:0050108", "UPHENO:0005642", "UPHENO:0080382", + "UPHENO:0005433", + "UPHENO:0052178", "UPHENO:0052778", - "HP:0000437", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", - "UPHENO:0076718", - "HP:0002973", - "UPHENO:0025211", - "HP:0012758", - "UPHENO:0009399", - "HP:0040072", - "HP:0040070", - "UPHENO:0080187", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0020013", - "HP:0006503", - "HP:0009825", - "UPHENO:0081511", - "UPHENO:0050034", - "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0075182", - "UPHENO:0082454", - "UPHENO:0081566", - "UPHENO:0083646", - "HP:0009118", - "HP:0011821", - "HP:0000277", - "UPHENO:0080158", - "UPHENO:0081786", - "HP:0010461", - "UPHENO:0003053", - "HP:0000929", - "HP:0031816", - "UPHENO:0081314", - "UPHENO:0076800", - "UPHENO:0087123", - "UPHENO:0081788", - "UPHENO:0080087", - "UPHENO:0086932", - "UPHENO:0088116", - "UPHENO:0002443", - "UPHENO:0069249", - "UPHENO:0081575", - "HP:0001762", - "HP:0020047", - "HP:0005656", - "UPHENO:0041203", - "HP:0002814", - "HP:0001776", - "UPHENO:0003070", - "UPHENO:0086628", - "UPHENO:0049874", - "HP:0001510", - "HP:0001507", - "HP:0100886", - "UPHENO:0002595", - "UPHENO:0021474", - "HP:0000478", - "UPHENO:0065599", - "UPHENO:0026628", - "HP:0012372", - "UPHENO:0001072", - "UPHENO:0081141", - "UPHENO:0003020", - "UPHENO:0075655", - "HP:0009116", - "HP:0000316", - "HP:0009892", - "UPHENO:0074228", - "UPHENO:0086644", - "UPHENO:0062515", - "HP:0004378", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "UPHENO:0081320", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0000122", - "UPHENO:0002839", - "HP:0034915", - "HP:0011297", - "UPHENO:0087472", - "HP:0000369", - "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0082356", - "UPHENO:0084761", - "HP:0011121", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0002813", - "HP:0002032", + "UPHENO:0081436", + "UPHENO:0000552", + "UPHENO:0084007", + "UPHENO:0061854", + "HP:0012447", + "UPHENO:0050121", + "GO:0048709", + "GO:0014003", + "GO:0048468", + "UPHENO:0084012", + "HP:0012448", + "UPHENO:0083951", + "UPHENO:0000553", + "UPHENO:0059829", + "GO:0007399", + "GO:0042552", + "GO:0032291", + "GO:0010001", + "GO:0022008", + "GO:0009987", + "GO:0008366", + "UBERON:0000478", + "HP:0010948", + "UBERON:0000323", + "HP:0001195", + "HP:0011425", + "HP:0010881", + "HP:0034058", + "HP:0011403", + "UPHENO:0075872", + "UBERON:0000922", + "UBERON:0002331", + "HP:0001671", + "UBERON:0002094", + "UPHENO:0019888", + "UPHENO:0015282", + "UBERON:0002099", + "UBERON:0018674", + "UBERON:0006876", + "UBERON:0002201", + "HP:0001194", + "UBERON:0003498", + "UPHENO:0033603", + "UBERON:0011695", + "UPHENO:0086797", + "UPHENO:0076810", + "UPHENO:0075655", + "HP:0001627", + "UBERON:0004716", + "UPHENO:0015290", + "UPHENO:0015324", + "UPHENO:0087309", + "HP:0011603", + "UBERON:0001423", + "UBERON:0003460", + "UBERON:0003607", + "UBERON:0002082", + "UPHENO:0087501", "HP:0003974", - "UPHENO:0076703", - "UPHENO:0046505", - "UPHENO:0076724", - "HP:0000924", - "HP:0001155", + "UPHENO:0076718", + "HP:0040070", + "HP:0009825", + "HP:0004977", + "HP:0009822", + "UPHENO:0086956", + "HP:0009823", + "UPHENO:0026023", + "UBERON:0010741", + "HP:0006501", + "UBERON:0005440", + "UBERON:0002386", + "UPHENO:0062515", + "UPHENO:0079872", + "UPHENO:0009341", + "UPHENO:0076744", + "HP:0003468", + "UPHENO:0076695", + "HP:0008544", + "UPHENO:0082480", + "HP:0000396", + "UPHENO:0062527", + "UPHENO:0086301", + "HP:0003953", + "UPHENO:0041058", + "UBERON:0002488", + "UPHENO:0083647", + "UPHENO:0041149", + "UBERON:0001757", + "UBERON:0000989", + "UBERON:0007100", + "UPHENO:0005016", "HP:0000032", - "UPHENO:0022529", - "HP:0000465", - "UPHENO:0002903", - "HP:0002575", + "UBERON:0008811", + "UPHENO:0087547", + "UBERON:0003135", + "HP:0000050", + "HP:0008736", + "HP:0012243", + "UPHENO:0087802", + "HP:0000054", + "GO:0042063", + "HP:0000036", + "UPHENO:0050406", + "HP:0000811", + "UBERON:0003101", + "UPHENO:0080200", + "HP:0012429", + "UPHENO:0087415", + "UPHENO:0087902", + "UPHENO:0081381", + "UPHENO:0087531", + "HP:0002079", + "UBERON:0019261", + "UPHENO:0087750", + "UPHENO:0087032", + "HP:0012430", + "HP:0033725", + "UBERON:0007702", + "UBERON:0001020", + "UPHENO:0033604", + "UBERON:0002316", + "UBERON:0001890", + "UBERON:0001893", + "UPHENO:0087518", + "UBERON:0000454", + "UPHENO:0069144", + "HP:0001273", + "UPHENO:0076807", + "UBERON:0005340", + "UBERON:0002471", + "UBERON:0001869", + "UPHENO:0020888", + "HP:0002500", + "UPHENO:0081099", + "HP:0007360", + "UPHENO:0076720", + "UPHENO:0020013", + "UBERON:0002028", + "UBERON:0001895", + "UPHENO:0081601", + "UBERON:0004732", + "HP:0011283", + "HP:0001321", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", + "UPHENO:0080089", + "HP:0003220", + "GO:0005623", + "UPHENO:0080204", + "GO:0008152", + "HP:0001939", + "UPHENO:0063603", + "UBERON:0000477", + "HP:0030962", + "HP:0001626", + "HP:0001680", + "HP:0030680", + "GO:0048869", + "HP:0100547", + "UBERON:0003519", + "HP:0001679", + "UPHENO:0076809", + "UBERON:0001009", + "UBERON:0007798", + "HP:0002597", + "UBERON:0004145", + "UPHENO:0076729", + "UPHENO:0077854", + "GO:0007272", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0004535", + "UBERON:0004572", + "UPHENO:0002678", + "UBERON:0003606", + "UBERON:0002405", + "UPHENO:0050034", + "CL:0001035", + "UPHENO:0050372", + "CL:0000255", + "CL:0000232", + "UPHENO:0087643", + "UPHENO:0002948", + "CL:0000329", + "UBERON:0001474", + "UPHENO:0086302", + "UPHENO:0002332", + "HP:0001249", + "UBERON:0015061", + "UPHENO:0002833", + "UPHENO:0041116", + "GO:0008150", + "UBERON:0002371", + "UPHENO:0075997", + "UBERON:0010708", + "UBERON:0002437", + "UBERON:0000019", "UPHENO:0026506", - "UPHENO:0041226", - "HP:0011355", - "UPHENO:0081091", - "UPHENO:0081790", - "UPHENO:0049586", - "UPHENO:0087806", - "UPHENO:0074584", - "UPHENO:0026181", - "UPHENO:0080165", - "HP:0002921", - "UPHENO:0081210", - "HP:0001883", - "UPHENO:0087563", - "HP:0100887", - "UPHENO:0005170", - "UPHENO:0003074", - "UPHENO:0068971", - "HP:0012759", - "UPHENO:0080111", - "UPHENO:0075195", - "HP:0011793", - "UPHENO:0069196", - "UPHENO:0049990", - "UPHENO:0082682", - "HP:0005105", - "UPHENO:0000541", "UPHENO:0076785", - "HP:0000752", - "UPHENO:0005597", - "UPHENO:0081792", + "UBERON:0001456", + "UPHENO:0000541", + "HP:0002778", + "UBERON:0006077", + "UBERON:0011215", + "UBERON:0001558", + "UBERON:0003126", + "HP:0011793", + "HP:0025031", + "UBERON:0005409", + "UPHENO:0065599", + "HP:0002664", + "GO:0060425", + "UBERON:0005181", + "UPHENO:0004536", + "CL:0000000", + "UBERON:0003103", + "UPHENO:0087334", + "UBERON:0005177", + "HP:0010993", + "UPHENO:0076735", + "UBERON:0000463", + "HP:0005607", + "UBERON:0006717", + "UPHENO:0001003", + "UPHENO:0015314", + "UPHENO:0076765", + "UBERON:0013765", + "HP:0002119", + "UPHENO:0020748", + "UPHENO:0086700", + "HP:0005927", + "HP:0007370", + "HP:0000707", + "GO:0060463", + "UPHENO:0086172", + "UBERON:0001440", + "UPHENO:0056072", + "HP:0011297", + "UBERON:0000075", + "UPHENO:0002901", + "UBERON:0000947", + "UBERON:0002529", + "UPHENO:0081562", + "UBERON:0005434", + "HP:0002575", + "UBERON:0010740", + "UPHENO:0076752", + "UBERON:0004708", + "UPHENO:0085068", + "NCBITaxon:2759", + "UPHENO:0087816", + "HP:0002032", + "UPHENO:0086633", + "HP:0032251", + "GO:0032502", + "UPHENO:0002832", + "UPHENO:0015327", + "UBERON:0019221", "UPHENO:0087478", - "UPHENO:0086595", - "HP:0000492", - "UPHENO:0001002", - "UPHENO:0087924", + "UBERON:0015212", + "UPHENO:0075150", + "UBERON:0002428", + "UBERON:0007272", + "UPHENO:0076727", + "UPHENO:0086855", + "UBERON:0001691", + "UPHENO:0080208", + "UPHENO:0018414", + "UPHENO:0080325", + "UBERON:0015203", + "UPHENO:0002642", + "UBERON:0004921", + "HP:0009777", + "UPHENO:0008523", + "CL:0000219", + "UPHENO:0080099", + "UPHENO:0002905", + "HP:0000077", + "UBERON:0007196", + "UBERON:0003544", + "UPHENO:0086635", + "HP:0033127", + "UPHENO:0076723", + "NCBITaxon:131567", + "HP:0012718", + "UPHENO:0082466", + "UPHENO:0046571", + "HP:0002086", + "UPHENO:0002378", + "UBERON:0005881", + "UBERON:0001062", + "UPHENO:0080187", + "UBERON:0013702", + "UBERON:0002091", "UPHENO:0020584", - "HP:0002813", - "HP:0000271", - "HP:0011283", - "UPHENO:0075997", - "UPHENO:0082129", - "HP:0008050", - "UPHENO:0005016", - "HP:0000119", + "HP:0009601", + "UBERON:0034925", + "UPHENO:0002433", + "HP:0033353", + "UBERON:0003947", + "CL:0000233", + "UBERON:0005174", + "GO:0009887", + "UBERON:0009569", + "UBERON:0002398", + "UPHENO:0002597", + "UPHENO:0002764", + "HP:0031703", + "UBERON:0008785", + "UBERON:0001460", + "GO:0040007", + "UBERON:0002108", + "GO:0022010", + "UPHENO:0087563", + "UBERON:0004573", + "UBERON:0015021", + "UBERON:0003509", + "UPHENO:0003074", + "HP:0001643", + "UBERON:0004571", + "UBERON:0000065", + "UBERON:0012140", + "BFO:0000040", + "UPHENO:0019886", + "UPHENO:0084766", + "UPHENO:0076692", + "UPHENO:0002536", + "UPHENO:0083648", + "HP:0011017", + "NCBITaxon:33208", + "HP:0025668", + "UPHENO:0025100", + "UBERON:0016887", + "UBERON:0011138", + "UBERON:0002513", + "UBERON:0010260", "UPHENO:0026128", - "HP:0000152", - "HP:0000315", - "UPHENO:0005986", - "HP:0001574", - "UPHENO:0021304", - "HP:0032039", - "UPHENO:0041041", - "UPHENO:0087006", - "UPHENO:0085118", - "UPHENO:0080196", - "HP:0000001", - "HP:0007400", - "HP:0008772", - "HP:0001939", - "UPHENO:0031839", - "UPHENO:0001003", - "HP:0000153", - "HP:0006265", - "UPHENO:0084012", - "UPHENO:0041098", - "UPHENO:0003085", - "UPHENO:0087089", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0050845", + "HP:0000079", + "GO:0032501", + "UBERON:0013701", + "UPHENO:0063569", + "UBERON:0011249", + "UBERON:0010191", + "PATO:0000001", + "UPHENO:0084763", + "HP:0002088", + "UBERON:0005423", + "UBERON:0000026", + "UBERON:0019231", + "UPHENO:0002844", + "UBERON:0008001", "HP:0011282", - "UPHENO:0074589", - "HP:0012638", - "UPHENO:0041080", + "UBERON:0002204", + "BFO:0000004", + "UBERON:0013768", + "HP:0003319", + "UPHENO:0046505", + "HP:0002031", + "UBERON:0004710", + "UPHENO:0084448", + "HP:0005922", + "UPHENO:0026183", + "UPHENO:0084771", + "UBERON:0000467", + "UBERON:0004765", + "UBERON:0004053", + "UPHENO:0086005", + "UBERON:0005178", + "HP:0009121", + "HP:0011100", + "UBERON:0010758", + "UBERON:0000117", + "UBERON:0004247", + "UPHENO:0080114", + "UBERON:0001802", + "UBERON:0003458", + "UPHENO:0088166", + "UPHENO:0002813", + "BFO:0000001", + "UBERON:0000465", + "UBERON:0001130", + "UPHENO:0086908", + "UBERON:0005451", + "HP:0000152", + "UPHENO:0081511", + "UPHENO:0076799", + "HP:0000119", + "HP:0000135", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0076703", + "GO:0048731", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0080377", + "UBERON:0004111", + "UBERON:0011137", + "HP:0002188", + "UPHENO:0033572", + "HP:0009815", + "HP:0002246", + "UPHENO:0087510", + "UBERON:5002544", + "UBERON:0010363", + "UBERON:0012477", "UPHENO:0001005", - "UPHENO:0003058", - "HP:0000925", - "HP:5200044", - "HP:0009115", + "UPHENO:0002725", + "UBERON:0015007", + "UPHENO:0088038", + "HP:0007364", "UPHENO:0080079", "HP:0011844", - "HP:0003220", - "UPHENO:0012541", - "UPHENO:0080585", - "UPHENO:0069110", - "UPHENO:0086699", - "UPHENO:0086700", - "HP:0011017", - "HP:0006501", - "UPHENO:0087907", - "HP:0012252", - "UPHENO:0084457", - "UPHENO:0002828", - "HP:0000951", - "HP:0030791", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0088170", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0000470", - "HP:0200006", - "UPHENO:0086589", - "UPHENO:0076791", - "UPHENO:0080209", - "UPHENO:0087802", - "HP:0001000", - "HP:0000812", - "HP:0002778", - "HP:0007018", - "UPHENO:0050021", - "HP:0000598", - "BFO:0000001", - "UPHENO:0002910", - "UPHENO:0049748", - "UPHENO:0055730", - "UPHENO:0076723", - "UPHENO:0080171", - "HP:0000582", - "HP:0001263", - "UPHENO:0009396", - "HP:0008517", - "HP:0005561", - "UPHENO:0083952", - "UPHENO:0049873", - "UPHENO:0002934", - "UPHENO:0004536", - "HP:0009122", - "UPHENO:0004523", - "UPHENO:0046571", - "HP:0001172", - "HP:0000118", + "UBERON:0000974", + "HP:0000001", + "UBERON:0001442", + "UBERON:0004120", + "HP:0040064", + "HP:0001167", + "UBERON:0002101", + "UBERON:0005985", + "UPHENO:0075195", + "UPHENO:0031839", + "HP:0001197", "HP:0011446", - "UPHENO:0087374", - "UPHENO:0076752", - "HP:0001760", - "UPHENO:0072195", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0000104", - "UPHENO:0050113", - "HP:0000008", - "UPHENO:0015280", - "UPHENO:0004459", - "UPHENO:0054957", - "UPHENO:0061854", - "HP:0008684", - "HP:0009777", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0031703", - "HP:0008771", - "UPHENO:0002764", - "HP:0025354", - "BFO:0000002", - "HP:0000736", - "HP:0012639", - "UPHENO:0076720", - "HP:0000708", - "UPHENO:0082875", - "UPHENO:0087846", + "HP:0002973", + "HP:0001172", + "UBERON:0011676", + "RO:0002577", + "UBERON:0010703", + "UBERON:0000955", + "HP:0000377", + "UBERON:0000062", + "HP:0006496", + "UBERON:0001434", + "UPHENO:0068984", + "HP:0100543", + "UPHENO:0050108", + "UPHENO:0087006", + "HP:0000238", + "UPHENO:0085144", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0068971", + "UPHENO:0008668", "UPHENO:0056237", - "UPHENO:0049622", - "HP:0000464", - "HP:0011400", - "HP:0000175", - "UPHENO:0081783", - "UPHENO:0086824", - "UPHENO:0086172", - "HP:0000707", + "UBERON:0002193", + "UBERON:0002412", + "UBERON:0006072", + "UPHENO:0087123", "HP:0002817", - "HP:0000163", - "UPHENO:0002433", - "HP:0009121", - "UPHENO:0081435", - "UPHENO:0021791", - "UPHENO:0080662", - "UPHENO:0087510", - "UPHENO:0018424", + "UPHENO:0001001", + "UPHENO:0086866", + "UBERON:0002102", + "HP:0034057", + "HP:0006265", + "UPHENO:0042107", + "HP:0011842", + "UBERON:0004908", + "UPHENO:0075696", + "UPHENO:0018390", + "UBERON:0001444", + "BFO:0000002", + "HP:0012639", + "UPHENO:0025945", + "UPHENO:0021304", + "UBERON:0006048", + "UBERON:0000948", "HP:0000357", - "HP:5200045", - "UPHENO:0080110", - "HP:0005528", - "UPHENO:0076761", - "UPHENO:0020659", + "UBERON:0010707", + "UPHENO:0022529", + "UPHENO:0087924", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0000479", + "UBERON:0002049", + "UBERON:0001016", + "UPHENO:0080362", + "UBERON:0000072", + "HP:0001317", + "UBERON:0011216", + "HP:0011024", + "UBERON:0004456", + "UPHENO:0076740", + "HP:0045060", + "UBERON:0011582", + "HP:0008678", + "HP:0040072", + "UBERON:0010912", + "HP:0000925", + "CL:0000225", + "UBERON:0002470", + "HP:0002977", + "GO:0060464", + "UPHENO:0086589", + "HP:0000470", + "UPHENO:0075175", "UPHENO:0002896", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0076782", "UPHENO:0080300", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0003811", - "UPHENO:0081598", + "UPHENO:0087349", + "UBERON:0002389", + "UBERON:0000468", + "UBERON:0000915", + "HP:0000464", + "UPHENO:0087427", + "UPHENO:0002808", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0068843", + "UPHENO:0080209", + "UBERON:0011584", + "UPHENO:0084987", + "UBERON:0004923", + "UPHENO:0001002", + "UBERON:0001137", + "UBERON:0000033", + "UBERON:0004119", + "UBERON:0012475", "UPHENO:0002880", + "UBERON:0015228", + "UBERON:0004288", "UPHENO:0002830", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0083951", - "UPHENO:0026023", - "HP:0012733", - "HP:0010938", - "UPHENO:0087643", - "UPHENO:0072194", - "UPHENO:0075878", - "HP:0006496", - "HP:0000356", - "UPHENO:0014240", - "HP:0002031", - "UPHENO:0084448", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0076740", - "UPHENO:0076760", - "HP:0011024", - "UPHENO:0018414", - "UPHENO:0084763", - "UPHENO:0076779", - "UPHENO:0088185", - "UPHENO:0011498", - "HP:0040012", - "UPHENO:0081466", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0087816", - "UPHENO:0086633", - "HP:0045060", - "UPHENO:0006910", - "HP:0040064", - "HP:0001167", - "HP:0003319", - "HP:0009601", - "PATO:0000001", - "UPHENO:0026028", - "UPHENO:0080126", - "UPHENO:0084766", - "HP:0008551", - "HP:0005922", - "UPHENO:0008668", - "UPHENO:0079826", - "UPHENO:0018390", - "UPHENO:0088186", - "UPHENO:0002901", - "HP:0009815", - "UPHENO:0049700", - "HP:0005927", - "UPHENO:0081585", - "UPHENO:0076727", - "UPHENO:0081119", - "UPHENO:0018426", + "UBERON:0013522", + "UPHENO:0081784", + "UPHENO:0000543", + "UBERON:0019207", + "GO:0003008", + "UBERON:0010538", + "UPHENO:0012541", + "UBERON:0012139", + "UBERON:0006058", + "UBERON:0003133", + "UBERON:5006048", + "HP:0004329", + "UPHENO:0087186", + "UPHENO:0081435", + "HP:0012252", + "UBERON:0007811", + "UBERON:0000153", + "UBERON:0004086", + "BFO:0000003", + "UBERON:5002389", + "HP:0001915", + "PR:000050567", + "UBERON:0002075", + "UPHENO:0004523", + "HP:0009115", + "UBERON:0001005", + "UPHENO:0081352", + "UBERON:0000060", + "HP:0040068", "UPHENO:0002708", - "UPHENO:0080099", - "UPHENO:0002833", - "UPHENO:0079876", - "UPHENO:0076695", - "UPHENO:0054970", - "UPHENO:0081328", - "HP:0034261", - "HP:0005107", - "UPHENO:0069391", - "HP:0008518", - "HP:0025461", - "UPHENO:0076805", - "HP:0030669", - "HP:0004590", + "UBERON:0003513", + "UBERON:0012141", + "UBERON:0011299", + "UPHENO:0049587", + "BFO:0000015", + "HP:0000815", + "GO:0050877", + "UBERON:0010230", + "HP:0012638", + "HP:0002011", + "UPHENO:0081091", + "HP:0008373", + "HP:0011004", + "HP:0002242", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000020", + "HP:0011039", + "UPHENO:0069298", + "UPHENO:0088186", + "UBERON:0005162", + "UBERON:0000481", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "HP:0025015", + "UBERON:0000970", + "NCBITaxon:33154", + "HP:0008057", + "UBERON:0001004", + "HP:0000315", + "UPHENO:0085189", + "HP:0007766", + "UPHENO:0087596", + "HP:0008056", + "UBERON:0000122", + "CL:0002242", + "UPHENO:0005986", + "HP:0011400", + "HP:0002060", + "HP:0012372", + "UPHENO:0087472", + "HP:0001713", + "UBERON:0002048", + "UBERON:0001043", + "UBERON:0010913", + "UPHENO:0081786", + "HP:0000478", + "UPHENO:0006910", + "UPHENO:0021037", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0001783", + "UPHENO:0085984", + "UBERON:0002336", "HP:0025033", - "UPHENO:0088162", - "HP:0000953", - "HP:0012243", - "HP:0005607", - "UPHENO:0087433", - "UPHENO:0002725", - "HP:0000050", - "UPHENO:0076735", - "UPHENO:0088047", - "HP:0012718", - "UPHENO:0002635", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026980", - "UPHENO:0056212", - "HP:0000130", - "UPHENO:0020748", - "HP:0000347", - "HP:0025031", - "HP:0000377", + "UBERON:0000966", + "UPHENO:0069391", + "UBERON:0001017", + "UPHENO:0087355", "UPHENO:0076803", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "HP:0009380", - "HP:0002086", - "UPHENO:0060026", - "HP:0007360", - "UPHENO:0076766", - "UPHENO:0076702", - "HP:0012443", - "UPHENO:0006161", + "HP:0000587", + "UPHENO:0081790", + "HP:0000479", + "HP:0002715", + "UPHENO:0075949", + "UBERON:0000941", + "HP:0012145", + "GO:0048646", + "UPHENO:0087907", + "UPHENO:0002910", + "HP:0001098", + "HP:0000234", + "UBERON:0005388", + "HP:0000271", + "HP:0008058", + "UBERON:0002090", + "HP:0002247", + "HP:0006503", + "UBERON:0002104", + "HP:0012759", "HP:0002118", - "UPHENO:0087430", - "UPHENO:0056333", - "HP:0001511", - "UPHENO:0000543", - "UPHENO:0081784", - "HP:0009823", - "HP:0000957", - "HP:0001034", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", - "HP:0002692", + "UBERON:0000047", + "UBERON:0004451", + "UBERON:0000170", + "UPHENO:0076805", + "UPHENO:0009399", + "HP:0025461", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0002473", + "HP:0012795", + "UPHENO:0056212", + "UPHENO:0021656", + "UBERON:0000073", + "GO:0050890", + "UPHENO:0087614", + "HP:0001629", + "UBERON:0034923", + "NCBITaxon:1", + "UBERON:0000063", + "UPHENO:0021803", + "UPHENO:0076776", + "NCBITaxon:6072", + "UBERON:0005281", + "UPHENO:0014240", + "HP:0000356", + "UPHENO:0005597", + "UBERON:0005282", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "GO:0048856", + "UBERON:0001359", + "UPHENO:0088185", + "UPHENO:0076779", + "UPHENO:0020950", + "UPHENO:0085344", + "HP:0002818", + "HP:0002813", + "HP:0002921", + "CL:0000738", + "UBERON:0000160", + "UBERON:0006314", + "UBERON:0002544", + "UBERON:0007779", + "HP:0000598", "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0008523", - "UPHENO:0050008", - "UPHENO:0025875", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739", - ], - "has_phenotype_closure_label": [ - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the immune system", - "abnormal immune system", - "abnormal bone marrow cell morphology", - "increased width of the anatomical entity in independent continuant", - "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal myelination", - "delayed central nervous system myelination", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "absent kidney", - "abnormal renal system", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "abnormal renal system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal bone marrow cell", - "Anemia", - "Abnormal myeloid cell morphology", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "abnormal external nose morphology", - "abnormal myelination", - "abnormal erythrocyte morphology", - "Depressed nasal tip", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "Abnormality of male external genitalia", - "abnormal external male genitalia", - "abnormal male reproductive organ morphology", - "decreased size of the penis", - "abnormal male reproductive system", - "penis hypoplasia", - "Abnormality of globe size", - "Abnormal penis morphology", - "Abnormal external genitalia", - "Micropenis", - "abnormal male reproductive system morphology", - "abnormal external male genitalia morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "External genital hypoplasia", - "Abnormal palate morphology", - "abnormal midface morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal incomplete closing of the secondary palate", - "Craniofacial cleft", - "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Abnormal hindbrain morphology", - "Aplasia/Hypoplasia of the cerebellum", - "abnormal anatomical entity morphology in the brain", - "Abnormal cerebellum morphology", - "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "Wide nasal bridge", - "Abdominal symptom", - "alimentary part of gastrointestinal system atresia", - "Neurodevelopmental abnormality", - "Neurodevelopmental delay", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Abnormality of the genital system", - "abnormal female reproductive organ morphology", - "abnormal internal female genitalia morphology", - "Aplasia of the uterus", - "Abnormality of the genitourinary system", - "Abnormal morphology of female internal genitalia", - "abnormal female reproductive system", - "Aplasia/hypoplasia of the uterus", - "absent anatomical entity in the reproductive system", - "abnormal female reproductive system morphology", - "absent uterus", - "absent external ear in the independent continuant", - "Anotia", + "UPHENO:0086932", + "UPHENO:0086699", + "UPHENO:0082129", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0049367", + "HP:0000369", + "UBERON:0002105", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0041226", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0088020", + "GO:0030323", + "UPHENO:0063722", + "UBERON:0019294", + "UPHENO:0076791", + "UPHENO:0075183", + "GO:0030324", + "GO:0060541", + "UBERON:0000171", + "UPHENO:0019970", + "HP:0000924", + "UBERON:0004121", + "GO:0007275", + "UPHENO:0004459", + "UPHENO:0003116", + "GO:0009653", + "HP:0010438", + "GO:0048513", + "GO:0035295", + "UBERON:0004151", + "UPHENO:0087548", + "UBERON:0000061", + "UPHENO:0056333", + "UPHENO:0025211", + "UPHENO:0086049", + "GO:0060462", + "HP:0002101", + "UPHENO:0087018", + "UPHENO:0078603", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "HP:4000059", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "HP:0002244", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UPHENO:0066927", + "UBERON:0000990", + "HP:0009380", + "UPHENO:0074228", + "UPHENO:0002595", + "UBERON:0004122", + "HP:0003241", + "HP:0010935", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "UBERON:0003466", + "UBERON:0000949", + "UBERON:0003834", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "UPHENO:0066972", + "UPHENO:0018426", + "HP:0000078", + "UPHENO:0063639", + "UBERON:0011143", + "UPHENO:0081594", + "HP:0002589", + "UPHENO:0085195", + "UBERON:0034713", + "UPHENO:0063629", + "UPHENO:0076783", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0085070", + "UBERON:0002114", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0001440", + "GO:0030154", + "UBERON:0002113", + "UPHENO:0085118", + "UPHENO:0015280", + "UPHENO:0075902", + "HP:0001881", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0026980", + "UPHENO:0008593", + "UPHENO:0083952", + "UBERON:8450002", + "UPHENO:0002934", + "UPHENO:0002803", + "UBERON:0005172", + "UBERON:0001981", + "UPHENO:0082875", + "HP:0000104", + "UBERON:0000055", + "UBERON:0000489", + "UPHENO:0081320", + "UBERON:0001008", + "UBERON:0001637", + "UBERON:0002037", + "UPHENO:0077426", + "HP:0020047", + "UPHENO:0085371", + "UBERON:0000079", + "UBERON:0005970", + "HP:0001871", + "UBERON:0015410", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0001873", + "UBERON:0001018", + "CL:0000458", + "UPHENO:0086854", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "UBERON:0004537", + "UBERON:0000064", + "CL:0000081", + "UBERON:0003951", + "CL:0000763", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0085302", + "UPHENO:0084928", + "UBERON:0003037", + "CL:0000151", + "UBERON:0002413", + "CL:0000988", + "UPHENO:0087339", + "UPHENO:0087089", + "CL:0000764", + "HP:0010987", + "HP:0005561", + "HP:0011893", + ], + "has_phenotype_closure_label": [ + "abnormal embryo development", + "Intrauterine growth retardation", "decreased developmental process", - "abnormal developmental process", + "changed embryo development rate", + "decreased qualitatively developmental process", + "changed biological_process rate", + "delayed central nervous system myelination", + "Abnormal CNS myelination", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "ensheathment of neurons", + "cellular developmental process", + "Delayed CNS myelination", + "glial cell differentiation", + "neurogenesis", + "abnormal central nervous system myelination in independent continuant", + "Delayed myelination", + "abnormal biological_process in nervous system", + "Abnormal fetal cardiovascular morphology", + "Fetal anomaly", "decreased embryo development", - "aplasia or hypoplasia of cerebellum", - "changed developmental process rate", - "Abnormal upper limb bone morphology", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "abnormal long bone morphology", - "abnormal limb long bone morphology", + "abnormal umbilical blood vessel morphology", + "extraembryonic structure", + "Abnormality of the umbilical cord", + "entire extraembryonic component", + "abnormal late embryo", + "Abnormality of prenatal development or birth", + "interventricular septum", + "abnormal cardiac ventricle morphology in the independent continuant", + "Abnormal cardiac ventricle morphology", + "abnormal interventricular septum morphology", + "abnormal incomplete closing of the interventricular septum", + "abnormal biological_process in central nervous system", + "primary circulatory organ", + "systemic artery", + "vasculature of organ", + "abnormal artery morphology in the independent continuant", + "heart vasculature", + "trunk blood vessel", + "conceptus", + "circulatory organ", + "abnormal systemic artery morphology", + "vasculature of trunk", + "heart plus pericardium", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "thoracic segment blood vessel", + "artery", + "abnormal anatomical entity morphology in the heart", + "Congenital malformation of the great arteries", + "Abnormalities of placenta or umbilical cord", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", "Abnormal morphology of the radius", + "radius endochondral element", + "limb long bone", "absent radius bone in the forelimb", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal forelimb zeugopod morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "aplastic forelimb zeugopod bone", + "abnormal forelimb zeugopod bone", "Aplasia/Hypoplasia of the radius", - "Absent radius", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", - "shape nose tip", - "anatomical entity hypoplasia in face", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "bone element hypoplasia in face", + "embryo development", + "abnormal cardiac ventricle morphology in the heart", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "Abnormal vertebral morphology", + "Abnormally folded helix", + "surface feature shape anatomical entity", + "pinna", + "Abnormal helix morphology", + "abnormal helix of outer ear morphology", + "folded anatomical entity", + "folded anatomical entity in independent continuant", + "decreased size of the external male genitalia", + "abnormal male reproductive system", + "Abnormal external genitalia", + "intromittent organ", + "external male genitalia", + "male reproductive system", + "abnormal penis morphology", + "Abnormality of male external genitalia", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "abnormal penis", + "External genital hypoplasia", + "abnormal reproductive system morphology", + "Abnormal penis morphology", + "abnormal male reproductive system morphology", + "decreased size of the penis", + "Abnormal cerebral subcortex morphology", + "Cerebral white matter hypoplasia", + "nervous system development", + "Thin corpus callosum", + "white matter", + "telencephalon", + "abnormal cerebral hemisphere white matter morphology", + "aplasia or hypoplasia of telencephalon", + "Hypoplasia of the corpus callosum", + "cerebral subcortex", + "Abnormal ventricular septum morphology", + "Abnormal cerebral white matter morphology", + "Abnormal cerebral morphology", + "folded helix of outer ear", + "forebrain", + "white matter of forebrain", + "brain commissure", + "abnormal cerebral hemisphere morphology", + "white matter of telencephalon", + "corpus callosum", + "decreased size of the corpus callosum", + "abnormal forebrain morphology", + "cellular process", + "cerebral hemisphere white matter", + "intercerebral commissure", + "nervous system commissure", + "abnormal size of corpus callosum", + "corpus callosum hypoplasia", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal embryo development", - "abnormal mouth morphology", - "abnormal jaw skeleton morphology", - "abnormal head bone morphology", - "abnormal facial skeleton morphology", - "abnormal genitourinary system", - "Abnormal foot morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "Growth delay", - "increased anatomical entity length in independent continuant", - "absent external ear", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "abnormal nasal bridge morphology", - "Hypertelorism", - "abnormal upper urinary tract", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormality of the eye", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", + "segmental subdivision of nervous system", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "Abnormality of metabolism/homeostasis", + "metabolic process", + "abnormal vertebra morphology", "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal immune system morphology", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "abnormal digit morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal neck morphology", - "Aplasia/Hypoplasia of the ear", - "abnormal forelimb morphology", - "Abnormality of the musculoskeletal system", - "Cafe-au-lait spot", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of manual digit 1", - "abnormal vertebral column", - "fused sacrum hypoplasia", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "decreased size of the anatomical entity", - "Abnormal midface morphology", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "aplasia or hypoplasia of ear", - "Microphthalmia", - "Abnormal neck morphology", - "abnormal skeletal system", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "Abnormality of the ear", - "changed embryo development rate", - "Intrauterine growth retardation", - "abnormal manual digit 1 morphology", - "abnormal fused sacrum morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "abnormal manual digit morphology in the independent continuant", - "decreased size of the kidney", + "esophagus atresia", + "Bilateral radial aplasia", + "abnormal metencephalon morphology", + "abnormal cardiovascular system morphology", + "abnormal aorta morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic cavity blood vessel", + "helix of outer ear", + "arterial blood vessel", + "Abnormality of the cardiovascular system", + "aortic system", + "Abnormality of cardiovascular system morphology", + "Abnormal aortic morphology", + "aorta", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "abnormal great vessel of heart morphology", + "cardiovascular system", + "Coarctation of aorta", + "blood vasculature", + "arterial system", + "outflow tract", + "blood vessel", + "Abnormal morphology of the great vessels", + "immune system", + "oxygen accumulating cell", + "bone cell", + "nucleate cell", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal face", + "Abnormality of mental function", + "abnormality of nervous system physiology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "nervous system process", + "system process", + "biological_process", + "Abnormal optic nerve morphology", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "bone marrow", + "Intellectual disability", + "proximo-distal subdivision of respiratory tract", + "anatomical structure morphogenesis", + "Abnormality of the digestive system", + "Abnormality of the respiratory system", + "Abnormal esophagus morphology", + "Abnormal tracheobronchial morphology", + "thoracic segment of trunk", + "abnormal digit", + "subdivision of digestive tract", + "delayed biological_process", + "respiratory airway", + "pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal esophagus morphology", + "thoracic cavity element", + "Abnormal systemic arterial morphology", + "hematopoietic system", + "Single umbilical artery", + "developing anatomical structure", + "Abnormal location of ears", + "abnormal nervous system", + "Abnormality of the vertebral column", + "retina", + "trunk region element", + "endoderm-derived structure", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "cell development", + "skeleton of manus", + "abnormal tracheobronchial tree morphology", + "abnormal manus morphology", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "umbilical cord", + "autopodial skeleton", + "penis hypoplasia", + "limb endochondral element", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "lung lobe formation", + "abnormal digit morphology", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "absent anatomical entity", + "abnormal coronary vessel morphology", + "tracheobronchial tree", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "cognition", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "tube", + "brain white matter", + "abnormal developmental process", + "appendage", + "root", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "agenesis of anatomical entity", + "multi-limb segment region", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "axon ensheathment in central nervous system", + "compound organ", + "eye", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "digit", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "Low-set ears", + "abnormal ear", + "aplastic anatomical entity", + "anterior region of body", + "Aplasia/hypoplasia involving bones of the hand", + "decreased size of the optic disc", + "absent anatomical entity in the renal system", + "cell", + "genitourinary system", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "upper limb segment", + "limb skeleton subdivision", + "digestive tract", + "vessel", + "lateral structure", + "arm", + "abnormal head morphology", + "manual digit", "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", + "cell differentiation", + "appendicular skeletal system", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "vertebral element", + "viscus", + "abnormal respiratory system morphology", "Aplasia/hypoplasia of the extremities", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Abnormality of mental function", - "abnormal chromatin organization", - "Chromosome breakage", - "kidney hypoplasia", - "Finger aplasia", - "abnormal reproductive system morphology", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "radius bone", + "Abnormality of the hand", + "Abnormal vascular morphology", + "abnormal arm", "Phenotypic abnormality", - "quality", - "abnormal nitrogen compound metabolic process", - "abnormal hindbrain morphology", + "abnormal anatomical entity morphology in the retina", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "reproductive organ", + "abnormal anatomical entity morphology in the manus", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "Abnormality of head or neck", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "anatomical collection", + "endochondral bone", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal neck morphology", + "abnormal manual digit morphology in the manus", + "postcranial axial skeleton", + "abnormal external ear morphology", + "Abnormal finger morphology", + "cervical vertebra endochondral element", + "decreased length of neck", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormal vertebral column", + "entity", + "abnormal anatomical entity morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal external genitalia", + "Abnormal renal morphology", + "vertebral column", + "absent anatomical entity in the multicellular organism", + "long bone", + "material entity", + "Abnormal appendicular skeleton morphology", + "thoracic segment organ", + "musculoskeletal system", + "Abnormality of the eye", + "axon tract", + "abnormal upper urinary tract", + "Abnormality of the gastrointestinal tract", "absent digit", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", + "glial cell development", + "Abnormal hindbrain morphology", "phenotype", - "absent external ear in the head", - "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal snout morphology", - "abnormal face", - "abnormal metabolic process", - "Abnormal forearm morphology", - "decreased size of the mandible", + "Abnormal cell morphology", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "cardiac ventricle", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "Abnormal ear morphology", + "abnormal digestive system", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "material anatomical entity", + "skeleton of limb", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "embryonic cardiovascular system", + "organism subdivision", + "Aplasia/hypoplasia involving the skeleton", + "optic disc hypoplasia", + "decreased qualitatively biological_process", + "anatomical entity", "abnormal anatomical entity", - "Abnormality of the outer ear", - "continuant", + "skeletal system", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "cervical vertebra", + "penis", + "digestive system element", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "abnormal craniocervical region morphology", - "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", - "abnormal integument", - "Morphological central nervous system abnormality", - "abnormal behavior process", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "abnormal neck", - "Atypical behavior", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "continuant", + "absent radius bone in the independent continuant", + "systemic arterial system", + "neck bone", + "entire sense organ system", + "absent anatomical entity in the limb", + "abnormal blood vessel morphology", + "lung", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "abnormal limb morphology", + "anatomical conduit", + "heart", "Abnormality of the head", - "abnormal anus", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal organelle organization", - "Abnormal CNS myelination", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "craniocervical region", "abnormal development of anatomical entity", - "abnormal digit", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal cellular process", - "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Slanting of the palpebral fissure", - "increased width of nasal bridge", - "Abnormal tracheobronchial morphology", - "abnormal biological_process", - "aplasia or hypoplasia of external ear", - "abnormal cell", - "abnormal limb morphology", - "abnormal reproductive system", - "Abnormality of head or neck", - "entity", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "abnormal behavior", - "Abnormality of digestive system morphology", - "abnormal limb", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", "Abnormal thumb morphology", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "delayed biological_process in central nervous system", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Abnormality of the orbital region", - "absent anatomical entity in the multicellular organism", - "decreased size of the eyeball of camera-type eye", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "subdivision of trunk", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "subdivision of vertebral column", + "absent manual digit", + "abnormal trachea morphology", + "male organism", + "abnormal appendicular skeleton morphology", + "bone element", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the optic nerve", + "abnormal cellular process", + "secretory cell", + "autopodial extension", + "manual digit 1", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Cognitive impairment", + "abnormal central nervous system myelination", + "organ subunit", + "obsolete cell", + "digestive system", + "skeleton", + "abnormal artery morphology", + "Abnormal forearm morphology", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "quality", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "embryo", + "abnormal blood cell", + "erythrocyte", + "Abnormal tracheal morphology", + "abnormal respiratory tube morphology", + "dorsum", + "digit plus metapodial segment", + "Fetal ultrasound soft marker", + "abnormal neck", + "abnormal brain ventricle morphology", + "endochondral element", + "bone of dorsum", + "Abnormality of the neck", + "limb bone", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "limb", + "increased size of the anatomical entity", "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "flat anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "abnormal cervical vertebra", + "Abnormal retinal morphology", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "shape helix of outer ear", + "abnormal digestive system morphology", + "abnormal forelimb morphology", "aplastic manual digit 1", - "Abnormal finger morphology", + "abnormal cervical vertebra", + "Abnormal fetal morphology", + "commissure of telencephalon", + "abnormal intestine morphology", + "independent continuant", + "abnormal leukocyte morphology", + "multicellular organism development", + "reproductive system", + "main body axis", + "abnormal kidney morphology", + "neck", "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "abnormal respiratory system", - "Abnormality of limb bone", - "flat anatomical entity in independent continuant", + "delayed biological_process in independent continuant", + "digitopodium region", + "subdivision of tube", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", + "Morphological abnormality of the gastrointestinal tract", "absent anatomical entity in the forelimb", - "abnormal arm", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "Delayed CNS myelination", - "Hyperactivity", + "multicellular anatomical structure", + "skeletal element", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal limb", + "manus", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", + "tube development", + "acropodium region", + "subdivision of organism along main body axis", + "small intestine", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "dorsal region element", + "body proper", + "respiratory system", + "pectoral appendage", + "abnormal hematopoietic system morphology", + "system development", + "multicellular organismal process", + "organ part", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "Abnormality of limb bone morphology", + "paired limb/fin", + "abnormal optic disc morphology", + "Hypoplasia of penis", + "animal organ development", + "Abnormality of limbs", + "trunk or cervical vertebra", + "Renal hypoplasia/aplasia", + "mesoderm-derived structure", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "Abnormal corpus callosum morphology", + "irregular bone", + "organism", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "abnormal cranial nerve II morphology", + "vestibulo-auditory system", + "hematopoietic cell", + "cranial neuron projection bundle", + "abnormal vascular system morphology", + "photoreceptor array", + "Aplastic anemia", + "sensory system", + "abnormal growth", + "abnormal ocular fundus morphology", + "gonad", + "abnormal reproductive system", + "abnormal kidney", + "abnormal retina morphology", + "great vessel of heart", + "abnormal myeloid cell morphology", + "camera-type eye", + "chorioretinal region", + "abnormal immune system", + "Abnormal umbilical cord blood vessel morphology", + "Eukaryota", + "Eumetazoa", + "surface feature shape anatomical entity in independent continuant", + "Abnormal optic disc morphology", + "abnormal face morphology", + "anatomical entity hypoplasia in face", + "ear", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "aplasia or hypoplasia of cranial nerve II", + "non-connected functional system", + "neuron projection bundle", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "cardiac chamber", "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal trachea morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", - "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal mouth", - "Abnormal ear morphology", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormal manus morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "abnormal limb bone morphology", - "Cerebellar hypoplasia", - "Abnormal metencephalon morphology", - "Aplasia/Hypoplasia of the sacrum", - "Abnormal sacrum morphology", - "Abnormality of the neck", - "abnormal vertebral column morphology", - "Abnormal external nose morphology", - "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", + "face", + "axial skeletal system", + "Growth abnormality", + "abnormal size of optic disc", + "regional part of brain", + "Abnormal posterior eye segment morphology", + "Abnormality of the genital system", + "cervical region", + "Optic disc hypoplasia", + "central nervous system myelination", + "abnormal posterior segment of eyeball morphology", + "forelimb bone", + "anatomical entity hypoplasia", + "simple eye", + "trachea", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Aplasia/Hypoplasia affecting the fundus", + "lung morphogenesis", + "Abnormal platelet count", + "Abnormality of the orbital region", + "Hypergonadotropic hypogonadism", + "respiratory system development", + "Ventricular septal defect", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "ectoderm-derived structure", + "multi cell part structure", + "optic disc", + "Abnormality of limb bone", + "central nervous system", + "All", + "posterior segment of eyeball", + "cerebrospinal fluid", + "central nervous system cell part cluster", + "Abnormality of the face", + "abnormal nervous system morphology", + "cranial nerve II", + "central nervous system development", + "esophagus", + "hemolymphoid system", + "orbital region", + "Abnormality of the ear", "Tracheoesophageal fistula", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal camera-type eye morphology", + "Pancytopenia", + "abnormal head", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Puberty and gonadal disorders", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "myelination", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", "abnormally increased number of anatomical entity", - "abnormal respiratory system morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "Abnormal esophagus morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "Abnormal tracheal morphology", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", - "abnormal tracheobronchial tree morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Delayed myelination", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Abnormal cellular immune system morphology", + "abnormal cardiac septum morphology", + "organism substance", + "multi-tissue structure", + "bodily fluid", + "abnormal brain white matter morphology", + "Abnormality of the outer ear", + "ventricular system of central nervous system", + "abnormal brain ventricle/choroid plexus morphology", + "Hydrocephalus", + "ventricle of nervous system", + "increased size of the anatomical entity in independent continuant", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "eyeball of camera-type eye", + "brain ventricle", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "abnormal anatomical entity topology in independent continuant", + "abnormal external ear", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "cellular organisms", + "Abnormal lung morphology", + "Decreased anatomical entity position", + "abnormal ear morphology", + "abnormal location of external ear", + "abnormal telencephalon morphology", + "external ear", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "lower respiratory tract", + "abnormal bone marrow morphology", + "Patent ductus arteriosus", + "dorsal part of neck", + "Abnormal pinna morphology", + "Decreased external ear position", + "platelet", + "abnormal location of ear", + "Abnormal lung development", + "manual digit 1 or 5", + "developmental process", + "abnormal lung lobe formation", + "abnormal lung morphology", + "respiratory tube development", + "Aplasia/hypoplasia involving forearm bones", + "lung development", + "tract of brain", + "abnormally decreased functionality of the gonad", + "zeugopod", + "pair of lungs", + "Abnormal lung lobation", + "Hypoplastic male external genitalia", + "anatomical structure development", + "anatomical structure formation involved in morphogenesis", + "lung lobe development", + "segment of autopod", + "respiration organ", + "delayed growth", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "glandular system", + "blood cell", + "Abnormality of the genitourinary system", + "hindbrain", + "animal organ morphogenesis", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "reproductive structure", + "Abnormal myelination", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "changed developmental process rate", + "dorsal telencephalic commissure", + "abnormal brain commissure morphology", + "abnormal vasculature", + "abnormal genitourinary system", + "Abnormality of reproductive system physiology", + "abnormal small intestine", + "Abnormal duodenum morphology", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Duodenal atresia", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "aplasia or hypoplasia of corpus callosum", + "abnormal closing of the anatomical entity", + "arm bone", + "Intestinal atresia", + "ocular fundus", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "vasculature", + "duodenum atresia", + "Abnormal small intestine morphology", + "intestine atresia", + "duodenum", + "intestine", + "Abnormality of the male genitalia", + "manual digitopodium region", + "cervical region of vertebral column", + "Abnormal respiratory system morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "increased size of the brain ventricle", + "septum", + "paired limb/fin segment", + "Ventriculomegaly", + "subdivision of skeletal system", + "absent kidney in the independent continuant", + "abnormal dorsal telencephalic commissure morphology", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "Growth delay", + "kidney", + "abnormal renal system", + "abnormal respiratory system", + "Renal agenesis", + "abnormal hematopoietic system", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "excretory system", + "Abnormality of the upper urinary tract", + "manual digit 1 plus metapodial segment", + "abdomen", + "lung lobe morphogenesis", + "abdominal segment of trunk", + "abdominal segment element", + "absent kidney", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "digit 1", + "abnormal platelet morphology", + "multicellular organism", + "Thrombocytopenia", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "Abnormal cellular phenotype", + "myeloid cell", + "Overfolded helix", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "abnormal hematopoietic cell morphology", "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal ocular adnexa", - "abnormal location of ear", - "Decreased external ear position", - "abnormal anatomical entity topology in independent continuant", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Abnormal location of ears", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Abnormality of the gastrointestinal tract", - "Webbed neck", - "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", + "abnormal number of anatomical enitites of type platelet", + "cardiac septum", + "anucleate cell", + "leukocyte", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal fundus morphology", "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "Abnormality of the anus", + "cavitated compound organ", + "Abnormal leukocyte count", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell", ], }, { - "id": "MONDO:0014638", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "name": "Fanconi anemia complementation group P", + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], "provided_by": "phenio_nodes", "synonym": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T 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", ], "namespace": "MONDO", "has_phenotype": [ - "HP:0004808", + "HP:0002984", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", "HP:0001876", - "HP:0001873", + "HP:0000347", "HP:0009778", - "HP:0005528", - "HP:0009942", + "HP:0000414", "HP:0001903", + "HP:0012745", + "HP:0000085", "HP:0003221", "HP:0004322", "HP:0000365", - "HP:0010628", + "HP:0000028", + "HP:0000125", + "HP:0001045", ], "has_phenotype_label": [ - "Acute myeloid leukemia", + "Hypoplasia of the radius", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", "Pancytopenia", - "Thrombocytopenia", + "Micrognathia", "Short thumb", - "Bone marrow hypocellularity", - "Duplication of thumb phalanx", + "Bulbous nose", "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", "Chromosomal breakage induced by crosslinking agents", "Short stature", "Hearing impairment", - "Facial palsy", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo", ], - "has_phenotype_count": 11, + "has_phenotype_count": 20, "has_phenotype_closure": [ - "HP:0012638", - "UPHENO:0002433", - "HP:0010827", - "HP:0000271", - "UPHENO:0076772", - "UPHENO:0078730", - "HP:0011804", - "HP:0010628", - "UPHENO:0004508", - "HP:0000301", - "UPHENO:0003587", - "UPHENO:0076722", - "UPHENO:0081709", - "UPHENO:0087907", - "UPHENO:0080556", - "HP:0410008", - "HP:0000759", - "UPHENO:0076702", - "HP:0003011", - "HP:0000364", - "UPHENO:0002903", - "UPHENO:0052178", - "HP:0012639", - "UPHENO:0050625", - "HP:0000152", - "UPHENO:0052970", - "UPHENO:0002764", - "UPHENO:0080377", + "HP:0000086", + "CL:0000039", + "CL:0000413", + "UBERON:0001968", + "HP:0000078", + "HP:0000035", + "UPHENO:0005016", + "UBERON:0000463", + "UPHENO:0078729", + "HP:0000032", + "CL:0000586", + "GO:0019953", + "GO:0007283", + "GO:0007276", + "UPHENO:0085194", + "UPHENO:0050101", + "UBERON:0004054", + "UBERON:0000473", + 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"UPHENO:0086700", - "UPHENO:0006910", - "UPHENO:0085144", - "HP:0009142", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", + "NCBITaxon:33154", + "UBERON:0000970", + "UBERON:0004742", + "HP:0000252", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0087472", + "UPHENO:0074575", + "UPHENO:0046707", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000957", + "UBERON:0000481", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "NCBITaxon:6072", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0081788", + "HP:0002664", + "HP:0011793", + "HP:0001507", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0001456", + "HP:0005105", + "UPHENO:0049874", + "UPHENO:0000543", + "UPHENO:0086023", + "HP:0001510", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UPHENO:0046753", + "UBERON:0003103", + "HP:0000315", + "UPHENO:0085189", + "UPHENO:0034770", + "HP:0032039", + "UPHENO:0076761", + "HP:0012745", + "HP:0000492", + "UPHENO:0075220", + "UPHENO:0086595", + "HP:0030669", + "UBERON:0001819", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0080200", + "HP:0200007", + "HP:0000125", "UPHENO:0002910", - "HP:0009602", - "UPHENO:0086045", - "UPHENO:0075696", - "HP:0001871", - "UPHENO:0081700", - "UPHENO:0046505", + "HP:0045025", + "UPHENO:0041821", + "UPHENO:0020041", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", + "HP:0006503", + "UBERON:0002104", + "UBERON:0003462", + "HP:0010461", + "UPHENO:0054567", + "UBERON:0034923", + "UBERON:0034921", + "UPHENO:0077426", + "HP:0020047", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0085070", + "GO:0065007", + "UPHENO:0087355", "HP:0012145", - "UPHENO:0075159", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", "UPHENO:0087339", - "UPHENO:0015280", - "UPHENO:0076740", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0085984", + "HP:0002715", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "CL:0000458", + "UPHENO:0087089", + "CL:0000764", "UPHENO:0063722", - "HP:0001872", - "HP:0005927", - "UPHENO:0000543", - "HP:0004377", - "UPHENO:0085344", "HP:0001881", - "UPHENO:0049874", - "UPHENO:0086049", - "HP:0000924", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "HP:0005561", + "HP:0011893", "HP:0010987", - "HP:0001877", - "HP:0001909", - "HP:0045010", - "HP:0001324", - "HP:0002488", - "HP:0002664", - "UPHENO:0050845", - "BFO:0000020", - "HP:0011842", - "UPHENO:0087123", - "HP:0006265", - "UPHENO:0076727", - "BFO:0000001", - "HP:0009997", - "HP:0001873", - "HP:0006496", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "GO:0032502", + "UPHENO:0002832", "HP:0032251", - "UPHENO:0080352", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0002844", - "UPHENO:0001002", - "HP:0005528", - "HP:0011793", - "UPHENO:0002948", - "UPHENO:0001005", - "HP:0040064", - "UPHENO:0000541", - "UPHENO:0086005", - "UPHENO:0086635", - "HP:0000118", - "UPHENO:0076710", - "HP:0001172", - "HP:0011805", - "UPHENO:0082875", - "HP:0004322", - "UPHENO:0046707", - "UPHENO:0079876", - "UPHENO:0001003", - "UPHENO:0004459", - "UPHENO:0031839", - "BFO:0000002", - "UPHENO:0052231", - "UPHENO:0002536", - "HP:0001291", - "UPHENO:0021800", - "HP:0045060", - "HP:0011799", - "HP:0004808", + "UPHENO:0026028", "UPHENO:0084928", - "UPHENO:0002320", - "UPHENO:0087355", - "HP:0005561", - "HP:0025461", - "UPHENO:0085189", - "UPHENO:0069254", - "UPHENO:0076718", - "UPHENO:0046624", - "HP:0000001", - "PATO:0000001", - "UPHENO:0050620", - "HP:0002715", - "UPHENO:0076703", - "UPHENO:0088166", - "HP:0011875", - "UPHENO:0002964", + "UPHENO:0085302", + "CL:0000000", + "UPHENO:0002948", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000233", + "UBERON:0013522", + "UBERON:0001710", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", + "UPHENO:0076779", + "CL:0000255", "UPHENO:0080099", - "UPHENO:0080351", - "UPHENO:0046411", - "HP:0002813", - "UPHENO:0020584", - "HP:0020047", - "HP:0011893", - "UPHENO:0086173", - "UPHENO:0002908", - "UPHENO:0075195", - "HP:0011927", - "HP:0004275", - "UPHENO:0085118", - "HP:0011297", - "UPHENO:0005116", - "HP:0040070", - "HP:0040068", - "UPHENO:0085195", - "HP:0009381", - "UPHENO:0076724", - "UPHENO:0002880", - "UPHENO:0076675", + "CL:0000219", + "CL:0002242", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009122", + "HP:0011821", + "HP:0009118", + "UBERON:0010313", + "CL:0000015", "UPHENO:0002830", - "UPHENO:0068971", - "UPHENO:0002905", - "UPHENO:0086589", + "UBERON:0004288", + "UBERON:0011595", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0003457", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "UPHENO:0081786", + "UBERON:0011158", + "UBERON:0003135", + "HP:0009116", + "HP:0000347", + "HP:0025031", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", "UPHENO:0002896", - "HP:0000365", - "UPHENO:0084448", - "UPHENO:0084763", - "HP:0009778", - "UPHENO:0084761", - "UPHENO:0088186", - "UPHENO:0086633", - "HP:0001167", - "HP:0001507", - "HP:0009601", - "UPHENO:0080126", - "UPHENO:0084766", - "UPHENO:0077426", - "UPHENO:0087006", - "HP:0001155", - "HP:0000707", - "HP:0002817", - "UPHENO:0086172", - "HP:0011844", - "HP:0009115", + "GO:0043933", + "UBERON:0012360", + "GO:0006725", "UPHENO:0087501", - "UPHENO:0084447", + "UPHENO:0076800", + "HP:0034261", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0076692", + "UPHENO:0069249", + "UPHENO:0076803", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "GO:0050877", + "HP:0011927", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076805", + "UPHENO:0088168", + "UBERON:0002268", + "UBERON:0000466", + "UPHENO:0084715", + "UBERON:0002470", + "UBERON:0007827", + "UPHENO:0087430", + "CL:0000300", + "HP:0012130", + "UBERON:0011143", + "UBERON:0005177", + "UPHENO:0041629", + "UPHENO:0087427", + "UBERON:0000916", + "HP:0100542", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0082129", + "UBERON:0005173", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "HP:0012210", + "UBERON:8450002", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0002907", + "HP:0010935", + "UBERON:0002398", + "UBERON:0009569", + "HP:0000085", + "UBERON:0010323", + "UBERON:0000489", + "UPHENO:0041226", + "UBERON:0001008", + "UPHENO:0050113", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "UPHENO:0050116", + "GO:0008152", + "HP:0000079", + "GO:0048523", ], "has_phenotype_closure_label": [ - "Abnormality of the nervous system", - "Abnormality of the seventh cranial nerve", - "abnormal cranial nerve morphology", - "paralysed anatomical entity", - "Abnormal skeletal muscle morphology", - "Abnormal muscle physiology", - "Abnormality of facial musculature", - "abnormality of cranial nerve physiology", - "abnormal facial muscle", - "abnormal facial nerve", - "abnormal muscle organ morphology", - "Abnormality of the peripheral nervous system", - "abnormal head morphology", - "Cranial nerve paralysis", - "decreased anatomical entity strength", - "Abnormal nervous system physiology", - "Abnormal nervous system morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Facial palsy", - "abnormal ear", - "decreased qualitatively sensory perception of sound", - "decreased sensory perception of sound", - "Abnormality of head or neck", - "decreased biological_process", - "abnormal craniocervical region", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", - "delayed growth", - "abnormal growth", - "Abnormal peripheral nervous system morphology", - "decreased size of the multicellular organism", - "delayed biological_process", - "abnormality of muscle organ physiology", - "Growth delay", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Pelvic kidney", + "Ectopic kidney", + "sperm", + "haploid cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormality of reproductive system physiology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", + "decreased developmental process", + "decreased spermatogenesis", + "abnormal testis morphology", + "male germ cell", + "male gamete", + "reproductive system", + "abnormality of reproductive system physiology", + "abnormal gamete", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "external male genitalia", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "abnormally localised anatomical entity in independent continuant", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "semen", + "reproductive structure", + "organism substance", + "absent gamete", + "male gamete generation", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "gonad", + "external genitalia", + "reproductive process", + "decreased qualitatively developmental process", + "Abnormal testis morphology", + "Azoospermia", + "abnormal male reproductive system morphology", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "system process", + "ear", + "abnormal developmental process", + "sensory perception", + "abnormality of anatomical entity physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "multicellular organismal process", "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", + "abnormality of multicellular organism height", + "Short stature", + "decreased height of the multicellular organism", + "Chromosomal breakage induced by crosslinking agents", "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Abnormal cranial nerve morphology", - "abnormal peripheral nervous system morphology", - "abnormal biological_process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", "abnormal primary metabolic process", - "abnormality of ear physiology", "Abnormality of metabolism/homeostasis", - "abnormal cellular metabolic process", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "Abnormality of head or neck", + "Abnormal cerebral morphology", + "arm bone", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "root", + "appendage", + "organism", + "Neoplasm of the skin", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "regional part of nervous system", + "Abnormality of brain morphology", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "multi-tissue structure", + "tissue", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal mouth", + "Abnormality of skin pigmentation", + "skeleton of limb", + "organic substance metabolic process", "Abnormality of the head", - "Anemia", - "Abnormal cellular physiology", - "Abnormal erythrocyte morphology", - "Duplication of phalanx of hand", + "abnormal pigmentation", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "decreased length of forelimb zeugopod bone", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Cafe-au-lait spot", + "primary subdivision of skull", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "biological_process", + "abnormal integument", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "pigmentation", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "skeleton of manus", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "gamete generation", + "protein-containing material entity", + "agenesis of anatomical entity", + "digit", + "Hyperpigmentation of the skin", + "Abnormal digit morphology", + "cellular process", + "Absent thumb", + "abnormal autopod region morphology", + "Abnormal myeloid cell morphology", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Neoplasm", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal manus morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "skeletal element", + "zeugopod", + "cranial skeletal system", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "abnormal face", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "craniocervical region", + "forelimb zeugopod skeleton", + "facial skeleton", + "anatomical conduit", + "abnormal limb morphology", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of skeleton", + "lateral structure", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "subdivision of head", + "appendage girdle complex", + "manual digit plus metapodial segment", + "abnormal craniocervical region morphology", + "continuant", + "abnormal size of anatomical entity", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "material anatomical entity", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal phenotype by ontology source", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "erythrocyte", + "abnormal blood cell", + "quality", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "skeletal system", + "motile cell", + "skull", + "limb skeleton subdivision", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal forebrain morphology", + "forelimb", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "absent manual digit", + "decreased size of the mandible", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "forelimb zeugopod", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "anatomical system", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "endochondral element", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "membrane bone", + "paired limb/fin", + "Hypoplasia of the radius", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "limb", + "increased size of the anatomical entity", + "bone element", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "abnormal limb bone morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", "abnormal DNA metabolic process", - "abnormally decreased number of myeloid cell", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "forelimb skeleton", + "genitourinary system", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "forelimb bone", + "anatomical entity hypoplasia", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", "abnormal long bone morphology", - "Duplication of bones involving the upper extremities", - "abnormal platelet", - "Abnormality of chromosome stability", - "abnormal manus", - "abnormal manual digit morphology in the manus", - "Abnormal cranial nerve physiology", - "changed biological_process rate", - "abnormal sensory perception", - "Abnormal myeloid cell morphology", - "decreased height of the multicellular organism", - "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "upper limb segment", + "appendicular skeleton", + "appendicular skeletal system", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "bone of appendage girdle complex", + "aplastic manual digit 1", + "dentary", + "segment of autopod", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "arm", + "abnormal nose morphology", + "skeleton", + "organism subdivision", + "forelimb zeugopod bone hypoplasia", + "Microcephaly", "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "Duplication of hand bones", - "abnormal face", + "subdivision of trunk", + "Abnormal thumb morphology", "abnormally decreased number of hematopoietic cell", - "paralysed cranial nerve", - "abnormal head", - "abnormal bone marrow morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal platelet count", - "abnormal platelet morphology", + "bone of lower jaw", + "mandible hypoplasia", + "integument", + "skeleton of pectoral complex", "decreased length of anatomical entity in independent continuant", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal leukocyte count", - "abnormal musculature", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Abnormal cell morphology", - "abnormal number of anatomical enitites of type cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Acute leukemia", - "decreased qualitatively sensory perception of mechanical stimulus", - "entity", - "abnormal hematopoietic system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of bone marrow cell morphology", - "abnormal limb bone morphology", - "Growth abnormality", - "abnormal cellular process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "paired limb/fin segment", + "abnormal axial skeleton plus cranial skeleton morphology", + "Opisthokonta", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "multi-limb segment region", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", + "radius endochondral element", + "limb long bone", + "zeugopodial skeleton", + "eye", + "compound organ", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", "abnormal nervous system", - "Neoplasm", - "abnormal erythrocyte morphology", - "abnormally decreased number of anatomical entity", - "abnormal peripheral nervous system", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "forelimb zeugopod bone", + "nervous system", + "Narrow palpebral fissure", + "renal system", + "axial skeleton plus cranial skeleton", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "Abnormal hand morphology", + "Metazoa", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "abnormal facial skeleton morphology", + "main body axis", + "Abnormal appendicular skeleton morphology", + "decreased width of the palpebral fissure", + "abnormal kidney morphology", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "abnormal telencephalon morphology", + "body proper", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "axial skeletal system", + "Growth abnormality", + "abnormal orbital region", + "aplasia or hypoplasia of manual digit", + "face", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "delayed growth", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "multi organ part structure", + "hemolymphoid system", + "camera-type eye", "Abnormality of the hand", - "Short digit", - "Abnormal thumb morphology", + "radius bone", + "Anemia", + "ocular adnexa", + "manus", + "abnormal eyelid morphology", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "abnormal size of palpebral fissure", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormality of the orbital region", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "organ part", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormality of the face", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "orbital region", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", "phenotype by ontology source", - "Abnormal cellular phenotype", - "Abnormal ear physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal phenotype by ontology source", - "decreased length of digit", - "abnormal cellular component organization", + "abnormal ocular adnexa morphology", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "internal male genitalia", + "programmed DNA elimination", + "decreased length of long bone", + "obsolete cell", + "digestive system", + "abnormal hematopoietic system", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "Abnormality of the immune system", "specifically dependent continuant", - "abnormal erythroid lineage cell morphology", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "Abnormal leukocyte morphology", "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "Pancytopenia", - "decreased length of manual digit 1", - "Neoplasm by anatomical site", - "quality", - "abnormal craniocervical region morphology", - "continuant", - "decreased qualitatively biological_process", - "Abnormal upper limb bone morphology", - "All", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic system morphology", - "Abnormal digit morphology", + "pectoral appendage skeleton", "abnormal blood cell morphology", - "Phenotypic abnormality", - "Muscle weakness", - "abnormal bone of pectoral complex morphology", - "abnormal bone marrow cell morphology", - "decreased length of anatomical entity", - "Acute myeloid leukemia", - "abnormal cell", - "abnormal anatomical entity length", - "abnormally decreased number of cell", - "Short stature", - "abnormal number of anatomical enitites of type leukocyte", - "Leukemia", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal anatomical entity", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", "abnormal immune system", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal cellular immune system morphology", - "Aplasia/Hypoplasia of the thumb", - "abnormality of nervous system physiology", - "abnormal immune system morphology", - "phenotype", - "Abnormal hand morphology", - "Abnormality of the immune system", - "Abnormality of body height", - "Abnormal appendicular skeleton morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal hematopoietic system morphology", "abnormal limb long bone morphology", - "Hematological neoplasm", - "Abnormal leukocyte morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal chromatin organization", - "Abnormal skeletal morphology", - "Aplasia/hypoplasia of the extremities", - "abnormal leukocyte morphology", - "abnormal bone marrow cell", - "Weakness of facial musculature", - "abnormal cell morphology", - "abnormal sensory perception of sound", - "Abnormal long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "nucleate cell", + "oxygen accumulating cell", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Abnormal jaw morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormal digit", + "lower jaw region", + "subdivision of tube", + "anatomical entity hypoplasia in face", + "abnormal digestive system", + "digestive tract", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "Abnormality of body height", + "tube", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "immune system", + "facial bone", + "mandible", "Abnormality of thrombocytes", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal phalanx of manus morphology", - "abnormal skeletal system", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "abnormal jaw skeleton morphology", + "Abnormality of the digestive system", "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "abnormal size of anatomical entity", - "decreased length of manual digit", - "Abnormality of facial soft tissue", - "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digestive system morphology", + "anterior region of body", + "decreased length of manual digit 1", + "Short digit", "Short finger", - "Aplasia/hypoplasia involving the skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal limb bone", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Abnormal finger morphology", - "Abnormality of the musculature", - "abnormal myeloid cell morphology", - "Aplasia/Hypoplasia of fingers", - "decreased muscle organ strength", - "Short thumb", - "abnormal phalanx morphology", - "Abnormality of limb bone", - "abnormal nervous system morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Duplication of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of the upper limb", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal arm", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal autopod region morphology", - "abnormal limb", - "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "anatomical point", + "aplastic anatomical entity", + "Bulbous nose", + "abnormally increased volume of anatomical entity", + "Abnormal external nose morphology", + "Abnormality of the nose", + "nose", + "nose tip", + "olfactory organ", + "Abnormal nasal tip morphology", + "entire sense organ system", + "abnormal external nose morphology", + "immaterial anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "Horseshoe kidney", + "abnormal renal system morphology", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "abnormal renal system", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "3-D shape anatomical entity", + "changed developmental process rate", + "abnormal genitourinary system", + "excretory system", + "Abnormality of the kidney", + "manual digit 1 plus metapodial segment", + "abdomen", + "abdominal segment element", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", "abnormal manual digit morphology in the independent continuant", - "abnormal manus morphology", - "abnormal nerve", - "abnormal organelle organization", - "abnormal digit", - "Abnormality of the face", - "Bone marrow hypocellularity", - "Abnormality of the ear", - "abnormal manual digit 1 morphology", - "Thrombocytopenia", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal limb morphology", - "Abnormality of thumb phalanx", + "shape anatomical entity in independent continuant", + "metabolic process", + "abdominal segment of trunk", + "biological regulation", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "abnormal chromatin organization", + "abnormal metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", ], }, ], diff --git a/backend/tests/integration/test_solr_search.py b/backend/tests/integration/test_solr_search.py index 9beb5632e..59fd84cc7 100644 --- a/backend/tests/integration/test_solr_search.py +++ b/backend/tests/integration/test_solr_search.py @@ -61,7 +61,7 @@ def test_multiple_filter_queries(): response = si.search("eye", category=[EntityCategory.DISEASE, EntityCategory.PHENOTYPIC_FEATURE]) assert response assert response.total > 0 - for (i, item) in enumerate(response.items): + for i, item in enumerate(response.items): assert item.category in ["biolink:Disease", "biolink:PhenotypicFeature"] diff --git a/docs/Usage/CLI.md b/docs/Usage/CLI.md index e42a3d41a..27980e720 100644 --- a/docs/Usage/CLI.md +++ b/docs/Usage/CLI.md @@ -26,6 +26,8 @@ $ monarch [OPTIONS] COMMAND [ARGS]... * `histopheno`: Retrieve the histopheno data for an entity... * `mappings` * `multi-entity-associations`: Paginate through associations for multiple... +* `release`: Retrieve metadata for a specific release +* `releases`: List all available releases of the Monarch... * `schema`: Print the linkml schema for the data model * `search`: Search for entities * `solr` @@ -163,6 +165,7 @@ $ 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 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. @@ -265,10 +268,51 @@ $ monarch multi-entity-associations [OPTIONS] * `-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] +``` + +**Arguments**: + +* `[RELEASE_VER]`: The release version to get metadata for + +**Options**: + * `-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` + +List all available releases of the Monarch Knowledge Graph + +**Usage**: + +```console +$ monarch releases [OPTIONS] +``` + +**Options**: + +* `--dev`: Get dev releases of the KG (default is False) +* `-l, --limit INTEGER`: The number of releases to return [default: 0] +* `--help`: Show this message and exit. + ## `monarch schema` Print the linkml schema for the data model diff --git a/frontend/CONTRIBUTING.md b/frontend/CONTRIBUTING.md index b7855b583..a25be36cb 100644 --- a/frontend/CONTRIBUTING.md +++ b/frontend/CONTRIBUTING.md @@ -21,8 +21,6 @@ Without additional setup this will use the same FastAPI backend and data source - [Commands](#commands) - [Flags](#flags) - [Phenogrid](#phenogrid) - - [Parameters](#parameters) - - [Events](#events) - [Style guidelines](#style-guidelines) # Quick Start @@ -183,6 +181,11 @@ Env var: `VITE_MOCK=true` Defaults to `false`. +## Phenogrid + +The phenogrid is a custom Vue component that displays a grid of phenotype comparisons. +For more information on the phenogrid and now to use it, see the [Phenogrid](./PHENOGRID.md) documentation. + ## Style guidelines Use JSDoc style comments (`/** some comment */`) instead of regular JavaScript comments. diff --git a/frontend/phenogrid.md b/frontend/PHENOGRID.md similarity index 79% rename from frontend/phenogrid.md rename to frontend/PHENOGRID.md index b9e9d1f1e..0b9803b63 100644 --- a/frontend/phenogrid.md +++ b/frontend/PHENOGRID.md @@ -6,24 +6,31 @@ A widget for visualizing similarity between phenotypes. Phenogrid displays a visual comparison between sets of phenotypes in a grid arrangement, with calculations of the similarity in various metrics. -Public pages at `monarchinitiative.org/phenogrid-search` and `/phenogrid-multi-compare` provide a widget embeddable on any site via an ` ``` +You can specify a height and width here, but the widget will emit a `message` event to the parent window with the intrinsic size of its content, so you can dynamically set the dimensions of your iframe container. +See the [Events](#events) section for more details. + ## Modes -Phenogrid can operate in several modes, which you can specify via the `src` URL. +Phenogrid can operate in multiple modes, which you can specify via the `src` URL. - [`/phenogrid-search`](#search-mode) - Compares a list of enumerated phenotypes (set A) against all the phenotypes from a gene or disease of interest (group B). - [`/phenogrid-multi-compare`](#multi-compare-mode) - Compares a list of enumerated phenotypes to _multiple_ enumerated other lists of phenotypes. +For more details on the parameters for each mode, see the respective sections below. + ## Passing Parameters The widget can accept input parameters in two different ways. @@ -31,16 +38,16 @@ You can choose to pass them either way, unless specified otherwise. ### URL Params (simple) -Specify params in the URL like `?some-param=1,2,3&another-param=abc`. +Specify params in the `src` URL like `?some-param=1,2,3&another-param=abc`. This is allows convenient use in cases where the parameters are simple and short. ### Message Params (detailed) -For more flexible and detailed parameters, you can send the widget a message from JavaScript like this: +For more flexible and detailed parameters, you can omit params from the URL and instead send the widget a message from JavaScript like this: ```js // get your iframe DOM element somehow -const iframe = document.querySelector("iframe"); +const iframe = document.querySelector("iframe[name='your-iframe-name']"); // send it a message iframe.contentWindow.postMessage( // some parameters @@ -55,7 +62,7 @@ iframe.contentWindow.postMessage( You should use this method when your params might be [too long for a URL](https://www.google.com/search?q=max+url+length). -## "Search" Mode +## "Search" Mode Parameters As URL params: @@ -72,7 +79,7 @@ As message params: } ``` -## "Multi-Compare" Mode +## "Multi-Compare" Mode Parameters As URL params: @@ -108,7 +115,7 @@ You can use the same event listener as the standard Phenogrid widget to set the General parameters available regardless of the mode of operation. - `stylesheet` - URL to a stylesheet that will be applied to the widget, for the purposes of matching its styles to your webpage. - If passed as a URL param, make sure it is URI encoded. + - If passed as a URL param, make sure it is URI encoded. ## Events @@ -132,7 +139,7 @@ MessageEvent<{ This can happen when it switches from loading to results, when new phenotypes are loaded, when the grid is flipped/transposed, etc. -This can be useful for setting the dimensions of your iframe container: +This can be useful for dynamically setting the dimensions of your iframe container: ```js window.addEventListener("message", (event) => { diff --git a/frontend/README.md b/frontend/README.md index 695a63d60..b4f73f5e9 100644 --- a/frontend/README.md +++ b/frontend/README.md @@ -4,7 +4,7 @@ The monarch-app Frontend is a javascript/typescript app built on the Node.js usi You can use the monarch-app frontend to query the Monarch KG using the web app locally. Without additional setup this will use the same FastAPI backend and data source as the website. If you simply want to query the current release of the Monarch KG you probably just want to use the web application directly. -If you want to use a local data store please review the monarch-app README.md and CONTRIBUTING.md in the top level directory of this repository to understand how to manage the whole stack locally. +If you want to use a local data store please review the monarch-app [README.md](../README.md) and [CONTRIBUTING.md](../CONTRIBUTING.md) in the top level directory of this repository to understand how to manage the whole stack locally. # Useful Links @@ -54,8 +54,8 @@ Here are some useful commands got using the local Monarch Web App frontend with | `bun run build` | Build production version of app | | `bun run preview` | Serve built version of app | -For more detailed information including test/linting and development please refer to the CONTRIBUTING.md file in this diretory. +For more detailed information including test/linting and development please refer to the [CONTRIBUTING.md](./CONTRIBUTING.md) file in this diretory. # Developers -For detailed information on development of the Monarch Web App please see the CONTRIBUTING.md file in the frontend directory. If you want to use locally hosted data or run the FastAPI locally on your system you should refer to the README.md and CONTRIBUTING.md in the top-level of the monarch-app repository. +For detailed information on development of the Monarch Web App please see the [CONTRIBUTING.md](./CONTRIBUTING.md) file in the frontend directory. If you want to use locally hosted data or run the FastAPI locally on your system you should refer to the [README.md](../README.md) and [CONTRIBUTING.md](../CONTRIBUTING.md) in the top-level of the monarch-app repository. diff --git a/frontend/fixtures/association-counts.json b/frontend/fixtures/association-counts.json index 77db64254..39d36e58e 100644 --- a/frontend/fixtures/association-counts.json +++ b/frontend/fixtures/association-counts.json @@ -2,17 +2,17 @@ "items": [ { "label": "Phenotypes", - "count": 3859, + "count": 3932, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { "label": "Causal Genes", - "count": 119, + "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation" }, { "label": "Correlated Genes", - "count": 139, + "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation" } ] diff --git a/frontend/fixtures/association-table.json b/frontend/fixtures/association-table.json index 42ed8a425..cb31162ea 100644 --- a/frontend/fixtures/association-table.json +++ b/frontend/fixtures/association-table.json @@ -1,77 +1,77 @@ { "limit": 5, "offset": 0, - "total": 3859, + "total": 3932, "items": [ { - "id": "uuid:3c97b0fa-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b89b1b22-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0013049", "original_subject": "OMIM:612937", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0018276", - "MONDO:0024322", - "MONDO:0003847", - "MONDO:0019950", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0017749", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", "MONDO:0005500", - "MONDO:0005066", + "BFO:0000017", + "MONDO:0019056", + "MONDO:0013049", + "MONDO:0020121", "BFO:0000016", "MONDO:0020120", - "BFO:0000001", - "MONDO:0100546", "MONDO:0015286", - "MONDO:0700223", - "BFO:0000002", + "MONDO:0000001", + "MONDO:0024322", + "BFO:0000001", + "MONDO:0005066", + "MONDO:0700096", "MONDO:0002320", "MONDO:0019052", - "MONDO:0005071", - "BFO:0000017", - "MONDO:0019056", - "MONDO:0017749", + "MONDO:0003847", + "MONDO:0019950", + "MONDO:0018276", "BFO:0000020", - "MONDO:0700096", - "MONDO:0000001", - "MONDO:0013049", - "MONDO:0020121", "MONDO:0005336", "MONDO:0003939" ], "subject_label": "DPM3-congenital disorder of glycosylation", "subject_closure_label": [ - "hereditary skeletal muscle disorder", "myopathy", - "disorder of multiple glycosylation", - "disease", + "muscle tissue disorder", + "disorder of glycosylation", "disposition", "skeletal muscle disorder", "congenital disorder of glycosylation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "entity", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "disorder of multiple glycosylation", "nervous system disorder", "continuant", - "disease", - "DPM3-congenital disorder of glycosylation", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", - "congenital muscular dystrophy", - "muscular dystrophy-dystroglycanopathy", - "disorder of glycosylation", - "specifically dependent continuant", - "neuromuscular disease", "congenital nervous system disorder", "inborn errors of metabolism", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", + "muscular dystrophy-dystroglycanopathy", + "specifically dependent continuant", "human disease", - "entity", - "congenital disorder of glycosylation type I", - "metabolic disease" + "hereditary disease", + "congenital muscular dystrophy", + "DPM3-congenital disorder of glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "disease", + "disease", + "congenital disorder of glycosylation type I" ], "subject_taxon": null, "subject_taxon_label": null, @@ -81,73 +81,175 @@ "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0076289", - "UPHENO:0001002", - "PATO:0000001", + "BFO:0000002", + "UPHENO:0046284", + "HP:0001939", + "BFO:0000001", + "GO:0008152", + "UBERON:0000178", + "GO:1990234", + "CHEBI:33839", + "CHEBI:16670", "UPHENO:0001001", - "UPHENO:0051763", "UPHENO:0076286", - "HP:0003236", "UPHENO:0051612", - "UPHENO:0004459", - "UPHENO:0046284", - "HP:0040081", - "UPHENO:0001003", - "HP:0032180", - "UPHENO:0001005", - "BFO:0000002", - "HP:0010876", + "GO:0008150", + "BFO:0000040", + "GO:0032991", + "CHEBI:23367", + "GO:1902494", + "CHEBI:36357", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", "HP:0000001", "HP:0011021", + "UPHENO:0051763", "HP:0001871", "UPHENO:0077821", - "HP:0001939", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0051668", + "HP:0000118", + "UPHENO:0004459", + "HP:0032180", + "UBERON:0002390", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "HP:0004364", + "UPHENO:0001005", + "HP:0010876", + "UPHENO:0077826", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "GO:0005575", + "CHEBI:24431", + "UBERON:0010000", + "UBERON:0000468", + "GO:0061695", + "CHEBI:15841", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0051801", "BFO:0000001", + "BFO:0000015", + "BFO:0000004", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0076289", "HP:0430071", + "HP:0040081", + "UPHENO:0001003", + "PATO:0000001", + "UBERON:0001062", + "UPHENO:0001002", "BFO:0000020", - "UPHENO:0051801", - "HP:0004364", - "UPHENO:0051668", - "HP:0000118", "UPHENO:0002536", "UPHENO:0081547", - "UPHENO:0077826", - "UPHENO:0051804" + "UPHENO:0051804", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "UBERON:0000179", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963" ], "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "abnormal phenotype by ontology source", - "Abnormality of metabolism/homeostasis", - "entity", - "abnormal blood chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", + "abnormal anatomical entity", + "abnormal role bodily fluid level", + "abnormal blood protein polypeptide chain level", + "metabolic process", + "blood", + "creatine kinase complex", + "protein polypeptide chain", + "peptide", "phenotype", + "abnormal phenotype by ontology source", "abnormal hematopoietic system", "Abnormal circulating metabolite concentration", + "anatomical entity", + "transferase complex", + "macromolecule", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Elevated circulating creatine kinase concentration", + "occurrent", + "continuant", + "cellular_component", + "chemical entity", + "anatomical structure", + "organism substance", + "mesoderm-derived structure", + "bodily fluid", + "carboxamide", + "organic amino compound", + "primary amide", + "Abnormal circulating organic compound concentration", + "Abnormality of blood and blood-forming tissues", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis", + "entity", + "biological_process", + "material entity", + "protein-containing complex", + "molecular entity", "All", "Abnormality of circulating enzyme level", "continuant", "Abnormal circulating creatine kinase concentration", "phenotype by ontology source", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal anatomical entity", - "quality", + "catalytic complex", + "polyatomic entity", + "hematopoietic system", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", "abnormal role independent continuant level", "Phenotypic abnormality", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "abnormal blood protein polypeptide chain level", - "Abnormal circulating organic compound concentration", "abnormal independent continuant protein polypeptide chain level", - "Elevated circulating creatine kinase concentration" + "quality", + "multicellular anatomical structure", + "multicellular organism", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality", + "abnormal chemical entity level", + "entity", + "process", + "independent continuant", + "Abnormal circulating nitrogen compound concentration", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal blood chemical entity level", + "material anatomical entity", + "protein-containing material entity", + "anatomical system", + "main group molecular entity", + "p-block molecular entity", + "hemolymphoid system", + "haemolymphatic fluid", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound" ], "object_taxon": null, "object_taxon_label": null, @@ -228,70 +330,70 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:3f26adf4-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:bb301ee3-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0009676", "original_subject": "OMIM:253601", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "MONDO:0016145", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0009676", - "MONDO:0100546", "MONDO:0700223", "BFO:0000002", + "MONDO:0100546", "MONDO:0015152", "MONDO:0005071", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", - "MONDO:0016139", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0009676", + "MONDO:0000001", + "MONDO:0016145", "MONDO:0006025", + "MONDO:0016971", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939" ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2B", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "autosomal recessive disease", - "entity", + "hereditary disease", + "muscle tissue disorder", "qualitative or quantitative defects of dysferlin", "disposition", "skeletal muscle disorder", "autosomal recessive limb-girdle muscular dystrophy type 2B", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "nervous system disorder", "continuant", - "disease", - "muscular dystrophy", - "hereditary neuromuscular disease", - "hereditary disease", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease" + "human disease", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "disease", + "autosomal recessive disease", + "disease" ], "subject_taxon": null, "subject_taxon_label": null, @@ -301,55 +403,87 @@ "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001002", - "HP:0001324", - "BFO:0000020", - "HP:0003011", - "UPHENO:0001001", - "HP:0000118", - "UPHENO:0002320", - "UPHENO:0002332", - "BFO:0000001", - "PATO:0000001", "UPHENO:0075696", - "UPHENO:0002816", - "HP:0033127", - "UPHENO:0001003", "UPHENO:0001005", "BFO:0000002", + "UPHENO:0002816", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0001001", + "HP:0000118", + "UPHENO:0080555", "HP:0011804", + "UBERON:0000061", "HP:0000001", - "HP:0003701", - "UPHENO:0080556", + "BFO:0000001", + "BFO:0000001", + "UBERON:0000465", + "UBERON:0000062", + "UPHENO:0002332", "UPHENO:0082875", - "UPHENO:0080555", - "UPHENO:0002536" + "HP:0001324", + "PATO:0000001", + "BFO:0000002", + "UBERON:0000468", + "UBERON:0011216", + "UPHENO:0002320", + "UPHENO:0080556", + "BFO:0000004", + "UBERON:0010000", + "UBERON:0000467", + "HP:0003701", + "BFO:0000020", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "BFO:0000040", + "UBERON:0001062", + "UPHENO:0001002", + "UPHENO:0002536", + "UBERON:0005090", + "UBERON:0001630" ], "object_label": "Proximal muscle weakness", "object_closure_label": [ - "abnormality of muscle organ physiology", - "abnormal phenotype by ontology source", - "abnormality of anatomical entity physiology", + "abnormal anatomical entity", "decreased anatomical entity strength", + "abnormal anatomical entity", + "entity", "phenotype", + "Muscle weakness", + "specifically dependent continuant", "abnormality of anatomical entity physiology", - "All", + "material entity", + "anatomical entity", + "abnormal phenotype by ontology source", + "quality", + "continuant", + "muscle structure", + "organ", + "Proximal muscle weakness", + "anatomical structure", + "All", "continuant", "Abnormality of the musculature", "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "quality", + "musculature of body", + "musculature", "Phenotypic abnormality", - "specifically dependent continuant", + "decreased muscle organ strength", + "multicellular organism", + "organ system subdivision", + "abnormality of muscle organ physiology", "abnormal musculature", - "abnormal anatomical entity", + "entity", + "independent continuant", + "abnormality of anatomical entity physiology", "Phenotypic abnormality", - "Muscle weakness", "Abnormal muscle physiology", - "abnormal anatomical entity", - "Proximal muscle weakness", - "decreased muscle organ strength", - "entity" + "material anatomical entity", + "multicellular anatomical structure", + "anatomical system", + "muscle organ" ], "object_taxon": null, "object_taxon_label": null, @@ -430,88 +564,88 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:3a903cf6-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b692845e-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0011968", "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", "MONDO:0004995", "MONDO:0016140", "MONDO:0700223", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0015152", - "MONDO:0004994", "MONDO:0005071", "MONDO:0005267", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", - "MONDO:0020121", - "BFO:0000002", - "MONDO:0006025", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939" ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "cardiomyopathy", "nervous system disorder", "heart disorder", "familial cardiomyopathy", "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "entity", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease" + "human disease", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "hereditary neuromuscular disease", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease" ], "subject_taxon": null, "subject_taxon_label": null, @@ -521,66 +655,156 @@ "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001002", - "BFO:0000020", - "HP:0003011", - "UPHENO:0003070", - "PATO:0000001", + "UPHENO:0075696", + "HP:0002981", + "UPHENO:0065599", + "HP:0009127", + "BFO:0000002", + "UPHENO:0002816", + "UBERON:0002101", + "UBERON:0004709", + "UBERON:0010707", + "UBERON:0002103", + "UBERON:0000383", + "UBERON:0001015", + "UBERON:0003823", + "UBERON:0004466", + "UBERON:0004256", "UPHENO:0001001", + "UPHENO:0075952", "UPHENO:0075195", "UPHENO:0001072", - "UPHENO:0076692", "UPHENO:0002830", - "HP:0002814", - "UPHENO:0001005", - "HP:0003712", - "HP:0001430", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010538", + "UBERON:0006058", + "UBERON:0008784", + "UBERON:0002471", + "UBERON:0004482", + "UBERON:0001383", + "HP:0000001", + "UPHENO:0002644", + "HP:0001437", + "BFO:0000001", + "BFO:0000001", + "UBERON:0000465", + "RO:0002577", + "PR:000050567", + "UBERON:0000475", + "UBERON:0000062", + "UBERON:0006067", + "HP:0000118", "HP:0030236", "UPHENO:0084715", "UPHENO:0084767", - "UPHENO:0084489", - "UPHENO:0075696", - "HP:0002981", - "HP:0009127", - "UPHENO:0084763", - "UPHENO:0002816", - "HP:0033127", - "UPHENO:0001003", "UPHENO:0076710", "HP:0040064", - "UPHENO:0065599", + "UBERON:0000154", + "UBERON:0000026", + "UBERON:0007271", + "UBERON:0014792", + "UBERON:0010890", + "UBERON:0003661", + "HP:0003712", + "HP:0001430", + "HP:0008968", + "UPHENO:0076692", + "UPHENO:0084489", "BFO:0000002", - "UPHENO:0015280", - "HP:0001437", - "HP:0000001", - "UPHENO:0002644", - "UPHENO:0075952", + "UBERON:0010000", + "UBERON:0000468", + "UBERON:0011216", + "UBERON:0010709", + "HP:0002814", + "UPHENO:0001005", + "UPHENO:0084763", + "UPHENO:0020584", + "UBERON:0000467", + "UBERON:0010758", + "UBERON:0002529", + "UBERON:0000978", "HP:0008981", "UPHENO:0084535", "UPHENO:0075777", "HP:0011805", - "UPHENO:0020584", - "HP:0008968", - "BFO:0000001", - "HP:0000118", + "BFO:0000020", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "UPHENO:0003070", + "PATO:0000001", + "UBERON:0001062", + "UBERON:0000061", + "UBERON:0014892", + "UPHENO:0001002", + "UPHENO:0015280", "UPHENO:0002536", - "UPHENO:0002647" + "UPHENO:0002647", + "BFO:0000004", + "UBERON:0004708", + "UBERON:0018254", + "UBERON:0005090", + "UBERON:0001630", + "UBERON:0007270", + "UBERON:0004480", + "UBERON:0014795", + "UBERON:0003663" ], "object_label": "Calf muscle hypertrophy", "object_closure_label": [ - "Abnormality of the lower limb", - "increased size of the anatomical entity in independent continuant", + "abnormal anatomical entity", + "Abnormality of the calf", + "abnormal phenotype by ontology source", + "abnormal anatomical entity morphology in the appendage girdle complex", "abnormal size of anatomical entity", - "Phenotypic abnormality", + "abnormal anatomical entity", + "abnormal musculature of limb", + "abnormal limb", "entity", + "limb", + "pelvic appendage", + "hindlimb zeugopod", + "musculature of leg", + "hindlimb zeugopod muscle", "phenotype", - "Abnormality of the musculature of the limbs", - "abnormal anatomical entity morphology in the appendage girdle complex", + "Skeletal muscle hypertrophy", + "Abnormality of the calf musculature", + "specifically dependent continuant", "Abnormality of muscle size", "abnormally increased volume of anatomical entity", "abnormal anatomical entity morphology in the pelvic complex", "abnormal muscle organ morphology", "Abnormality of limbs", + "anatomical entity", + "anatomical structure", + "appendage girdle complex", + "hindlimb", + "musculature of hindlimb zeugopod", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the musculature of the limbs", + "abnormal anatomical entity morphology in the independent continuant", + "increased size of the anatomical entity", + "abnormal anatomical entity morphology", + "hypertrophic multicellular anatomical structure", + "continuant", + "paired limb/fin", + "skeletal musculature", + "muscle structure", + "organism subdivision", + "organ", + "lower limb segment", + "zeugopod", + "musculature of lower limb", + "muscle of leg", + "Calf muscle hypertrophy", + "hypertrophic pelvic complex muscle", + "abnormal hindlimb zeugopod muscle", + "Abnormal skeletal muscle morphology", + "material entity", + "skeletal muscle organ, vertebrate", + "limb segment", + "leg", "All", "abnormal musculature of lower limb", "abnormal hindlimb zeugopod", @@ -588,30 +812,42 @@ "Abnormality of the musculature", "Abnormality of the musculoskeletal system", "phenotype by ontology source", - "abnormal anatomical entity morphology", - "hypertrophic multicellular anatomical structure", - "specifically dependent continuant", - "abnormal musculature", - "abnormal anatomical entity", + "Abnormality of the musculature of the lower limbs", + "lateral structure", + "musculature of body", + "musculature", + "appendage musculature", + "musculature of pelvic complex", + "pelvic complex muscle", + "limb muscle", + "Phenotypic abnormality", + "Muscle hypertrophy of the lower extremities", "abnormal leg", "quality", + "independent continuant", + "multicellular anatomical structure", + "multicellular organism", + "organ system subdivision", + "pelvic complex", + "paired limb/fin segment", + "multi-limb segment region", + "Abnormality of the lower limb", "Phenotypic abnormality", - "Abnormality of the musculature of the lower limbs", - "abnormal anatomical entity", - "Abnormality of the calf", - "abnormal phenotype by ontology source", - "abnormal hindlimb zeugopod muscle", - "Abnormal skeletal muscle morphology", - "abnormal anatomical entity morphology in the independent continuant", - "increased size of the anatomical entity", - "abnormal musculature of limb", - "abnormal limb", - "Calf muscle hypertrophy", - "hypertrophic pelvic complex muscle", - "Skeletal muscle hypertrophy", - "Abnormality of the calf musculature", + "abnormal musculature", "abnormal anatomical entity morphology", - "Muscle hypertrophy of the lower extremities" + "entity", + "posterior region of body", + "appendage", + "material anatomical entity", + "system", + "protein-containing material entity", + "anatomical system", + "muscle organ", + "subdivision of organism along appendicular axis", + "pelvic appendage musculature", + "musculature of limb", + "pelvic appendage muscle", + "hindlimb muscle" ], "object_taxon": null, "object_taxon_label": null, @@ -692,88 +928,88 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:3a903cef-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:b6928457-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", "subject": "MONDO:0011968", "original_subject": "OMIM:608099", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", - "MONDO:0016106", - "MONDO:0100545", - "MONDO:0002081", - "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", "MONDO:0004995", "MONDO:0016140", "MONDO:0700223", - "MONDO:0000591", + "MONDO:0011968", + "MONDO:0100546", "MONDO:0015152", - "MONDO:0004994", "MONDO:0005071", "MONDO:0005267", + "MONDO:0016106", + "MONDO:0100545", + "MONDO:0002081", + "OGMS:0000031", + "MONDO:0004994", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", + "MONDO:0020121", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0000001", + "MONDO:0006025", + "MONDO:0000591", + "MONDO:0016971", "MONDO:0100547", "MONDO:0016139", "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", - "MONDO:0020121", - "BFO:0000002", - "MONDO:0006025", + "MONDO:0005217", + "MONDO:0016141", + "MONDO:0005021", + "MONDO:0000429", + "BFO:0000020", "MONDO:0005336", "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939" ], "subject_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "familial dilated cardiomyopathy", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "cardiovascular disorder", + "sarcoglycanopathy", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "cardiomyopathy", "nervous system disorder", "heart disorder", "familial cardiomyopathy", "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "entity", "autosomal genetic disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease" + "human disease", + "dilated cardiomyopathy", + "limb-girdle muscular dystrophy", + "muscular dystrophy", + "continuant", + "autosomal recessive limb-girdle muscular dystrophy type 2D", + "hereditary neuromuscular disease", + "disease", + "autosomal recessive disease", + "intrinsic cardiomyopathy", + "disease" ], "subject_taxon": null, "subject_taxon_label": null, @@ -783,73 +1019,175 @@ "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0076289", - "UPHENO:0001002", - "PATO:0000001", + "BFO:0000002", + "UPHENO:0046284", + "HP:0001939", + "BFO:0000001", + "GO:0008152", + "UBERON:0000178", + "GO:1990234", + "CHEBI:33839", + "CHEBI:16670", "UPHENO:0001001", - "UPHENO:0051763", "UPHENO:0076286", - "HP:0003236", "UPHENO:0051612", - "UPHENO:0004459", - "UPHENO:0046284", - "HP:0040081", - "UPHENO:0001003", - "HP:0032180", - "UPHENO:0001005", - "BFO:0000002", - "HP:0010876", + "GO:0008150", + "BFO:0000040", + "GO:0032991", + "CHEBI:23367", + "GO:1902494", + "CHEBI:36357", + "CHEBI:50047", + "CHEBI:37622", + "CHEBI:33256", "HP:0000001", "HP:0011021", + "UPHENO:0051763", "HP:0001871", "UPHENO:0077821", - "HP:0001939", + "UBERON:0000465", + "PR:000050567", + "UPHENO:0051668", + "HP:0000118", + "UPHENO:0004459", + "HP:0032180", + "UBERON:0002390", + "CHEBI:51143", + "CHEBI:50860", + "CHEBI:25806", + "CHEBI:36962", + "HP:0004364", + "UPHENO:0001005", + "HP:0010876", + "UPHENO:0077826", + "HP:0003236", + "BFO:0000003", + "BFO:0000002", + "GO:0005575", + "CHEBI:24431", + "UBERON:0010000", + "UBERON:0000468", + "GO:0061695", + "CHEBI:15841", + "GO:0002185", + "CHEBI:16541", + "UPHENO:0051801", "BFO:0000001", + "BFO:0000015", + "BFO:0000004", + "UBERON:0000467", + "CHEBI:33579", + "UPHENO:0076289", "HP:0430071", + "HP:0040081", + "UPHENO:0001003", + "PATO:0000001", + "UBERON:0001062", + "UPHENO:0001002", "BFO:0000020", - "UPHENO:0051801", - "HP:0004364", - "UPHENO:0051668", - "HP:0000118", "UPHENO:0002536", "UPHENO:0081547", - "UPHENO:0077826", - "UPHENO:0051804" + "UPHENO:0051804", + "UBERON:0000061", + "UBERON:0000463", + "UBERON:0004120", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "UBERON:0000179", + "CHEBI:33302", + "CHEBI:33582", + "CHEBI:33304", + "CHEBI:35352", + "CHEBI:32988", + "CHEBI:33285", + "CHEBI:36963" ], "object_label": "Elevated circulating creatine kinase concentration", "object_closure_label": [ - "abnormal phenotype by ontology source", - "Abnormality of metabolism/homeostasis", - "entity", - "abnormal blood chemical entity level", - "Abnormal circulating nitrogen compound concentration", - "abnormal multicellular organism chemical entity level", - "Phenotypic abnormality", - "Abnormal circulating protein concentration", + "abnormal anatomical entity", + "abnormal role bodily fluid level", + "abnormal blood protein polypeptide chain level", + "metabolic process", + "blood", + "creatine kinase complex", + "protein polypeptide chain", + "peptide", "phenotype", + "abnormal phenotype by ontology source", "abnormal hematopoietic system", "Abnormal circulating metabolite concentration", + "anatomical entity", + "transferase complex", + "macromolecule", + "pnictogen molecular entity", + "carbon group molecular entity", + "chalcogen molecular entity", + "abnormal role blood level", + "abnormal blood nitrogen molecular entity level", + "Elevated circulating creatine kinase concentration", + "occurrent", + "continuant", + "cellular_component", + "chemical entity", + "anatomical structure", + "organism substance", + "mesoderm-derived structure", + "bodily fluid", + "carboxamide", + "organic amino compound", + "primary amide", + "Abnormal circulating organic compound concentration", + "Abnormality of blood and blood-forming tissues", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormality of metabolism/homeostasis", + "entity", + "biological_process", + "material entity", + "protein-containing complex", + "molecular entity", "All", "Abnormality of circulating enzyme level", "continuant", "Abnormal circulating creatine kinase concentration", "phenotype by ontology source", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal anatomical entity", - "quality", + "catalytic complex", + "polyatomic entity", + "hematopoietic system", + "nitrogen molecular entity", + "organic molecular entity", + "oxygen molecular entity", + "organochalcogen compound", "abnormal role independent continuant level", "Phenotypic abnormality", "specifically dependent continuant", - "Abnormality of blood and blood-forming tissues", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal role blood level", - "abnormal role bodily fluid level", - "abnormal blood nitrogen molecular entity level", - "abnormal blood protein polypeptide chain level", - "Abnormal circulating organic compound concentration", "abnormal independent continuant protein polypeptide chain level", - "Elevated circulating creatine kinase concentration" + "quality", + "multicellular anatomical structure", + "multicellular organism", + "transferase complex, transferring phosphorus-containing groups", + "polypeptide", + "abnormal independent continuant chemical entity level", + "Phenotypic abnormality", + "abnormal chemical entity level", + "entity", + "process", + "independent continuant", + "Abnormal circulating nitrogen compound concentration", + "abnormal multicellular organism chemical entity level", + "Abnormal circulating protein concentration", + "abnormal blood chemical entity level", + "material anatomical entity", + "protein-containing material entity", + "anatomical system", + "main group molecular entity", + "p-block molecular entity", + "hemolymphoid system", + "haemolymphatic fluid", + "organonitrogen compound", + "amide", + "heteroorganic entity", + "organooxygen compound" ], "object_taxon": null, "object_taxon_label": null, @@ -930,150 +1268,150 @@ "has_percentage_sortable_float": [100.0] }, { - "id": "uuid:3b3bff02-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:ba94d523-185f-11ef-ae41-094949cc661d", "category": "biolink:DiseaseToPhenotypicFeatureAssociation", - "subject": "MONDO:0029136", - "original_subject": "OMIM:618138", + "subject": "MONDO:0013178", + "original_subject": "OMIM:613205", "subject_namespace": "MONDO", "subject_category": "biolink:Disease", "subject_closure": [ - "MONDO:0000429", - "MONDO:0029136", - "MONDO:0003847", - "MONDO:0016106", + "MONDO:0700223", + "MONDO:0100546", + "MONDO:0005071", "MONDO:0100545", "MONDO:0002081", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0100546", - "MONDO:0700223", - "BFO:0000002", - "MONDO:0015152", - "MONDO:0005071", "BFO:0000017", "MONDO:0019056", - "MONDO:0100228", - "BFO:0000020", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "MONDO:0006025", + "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0013178", + "MONDO:0000001", + "BFO:0000020", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019950", "MONDO:0005336", + "MONDO:0003847", "MONDO:0003939" ], - "subject_label": "muscular dystrophy, limb-girdle, autosomal recessive 23", + "subject_label": "congenital muscular dystrophy due to LMNA mutation", "subject_closure_label": [ - "limb-girdle muscular dystrophy", - "hereditary skeletal muscle disorder", - "progressive muscular dystrophy", "myopathy", - "disease", - "autosomal recessive disease", - "entity", + "hereditary disease", + "muscle tissue disorder", "disposition", "skeletal muscle disorder", + "congenital muscular dystrophy due to LMNA mutation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "realizable entity", + "neuromuscular disease", "nervous system disorder", - "continuant", - "disease", + "congenital nervous system disorder", + "human disease", + "congenital muscular dystrophy", "muscular dystrophy", + "continuant", "hereditary neuromuscular disease", - "muscular dystrophy, limb-girdle, autosomal recessive 23", - "hereditary disease", - "autosomal genetic disease", + "entity", + "disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "LAMA2-related muscular dystrophy", - "human disease" + "disease" ], "subject_taxon": null, "subject_taxon_label": null, "predicate": "biolink:has_phenotype", - "object": "HP:0002500", + "object": "HP:0001252", "original_object": null, "object_namespace": "HP", "object_category": "biolink:PhenotypicFeature", "object_closure": [ - "UPHENO:0001001", - "UPHENO:0087902", - "UPHENO:0001002", - "UPHENO:0076702", + "UPHENO:0075696", + "HP:0003808", + "UPHENO:0002816", + "UBERON:0000383", + "UBERON:0001015", + "UPHENO:0082555", "HP:0000118", - "UPHENO:0076692", + "HP:0011804", + "HP:0000001", + "BFO:0000002", + "HP:0001252", + "UPHENO:0082557", + "BFO:0000001", + "UBERON:0000062", + "UPHENO:0002332", + "UPHENO:0082875", "UPHENO:0001005", - "UPHENO:0076791", - "UPHENO:0087518", - "HP:0012443", - "PATO:0000001", - "UPHENO:0075696", - "UPHENO:0076805", - "UPHENO:0001003", "BFO:0000002", - "HP:0002011", - "HP:0002500", - "HP:0100547", - "UPHENO:0015280", - "UPHENO:0004523", - "UPHENO:0021803", - "HP:0000001", - "HP:0002060", - "UPHENO:0081435", - "HP:0012639", - "UPHENO:0020888", - "UPHENO:0087531", - "BFO:0000020", - "UPHENO:0081562", - "HP:0000707", - "UPHENO:0020584", + "UBERON:0000465", + "UBERON:0010000", + "UBERON:0000468", + "UPHENO:0002320", "BFO:0000001", - "HP:0010993", - "UPHENO:0076799", - "UPHENO:0002536" + "UBERON:0000467", + "UPHENO:0001001", + "HP:0003011", + "HP:0033127", + "UPHENO:0001003", + "PATO:0000001", + "BFO:0000040", + "UBERON:0001062", + "UPHENO:0001002", + "BFO:0000020", + "UPHENO:0002536", + "BFO:0000004", + "UBERON:0000061", + "UBERON:0005090", + "UBERON:0011216", + "UBERON:0001630" ], - "object_label": "Abnormal cerebral white matter morphology", + "object_label": "Hypotonia", "object_closure_label": [ - "abnormal anatomical entity morphology in the brain", - "Abnormal nervous system morphology", - "abnormal forebrain morphology", - "Abnormal cerebral subcortex morphology", - "abnormal telencephalon morphology", - "entity", - "abnormal brain morphology", - "Abnormality of brain morphology", - "All", - "Abnormal cerebral morphology", - "continuant", - "Morphological central nervous system abnormality", - "Abnormal cerebral white matter morphology", - "phenotype by ontology source", - "abnormal anatomical entity morphology", - "quality", - "Phenotypic abnormality", "abnormal anatomical entity", - "abnormal nervous system morphology", + "abnormal anatomical entity", + "organ system subdivision", + "abnormal phenotype by ontology source", + "abnormality of anatomical entity physiology", + "material entity", + "anatomical entity", + "Abnormal muscle tone", + "continuant", + "continuant", + "material anatomical entity", + "anatomical structure", + "muscle structure", + "organ", "phenotype", - "abnormal brain white matter morphology", + "Hypotonia", + "All", + "decreased anatomical entity tone", + "Abnormality of the musculature", + "Abnormality of the musculoskeletal system", + "phenotype by ontology source", + "decreased muscle organ tone", + "musculature of body", + "musculature", "Phenotypic abnormality", "specifically dependent continuant", - "abnormal nervous system", - "abnormal cerebral subcortex morphology", - "abnormal anatomical entity", - "abnormal phenotype by ontology source", - "abnormal cerebral hemisphere morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal central nervous system morphology", - "abnormal forebrain morphology", - "Abnormal forebrain morphology", - "abnormal cerebral hemisphere white matter morphology", - "Abnormality of the nervous system", - "abnormal anatomical entity morphology" + "quality", + "independent continuant", + "multicellular anatomical structure", + "multicellular organism", + "abnormality of muscle organ physiology", + "abnormal musculature", + "entity", + "entity", + "abnormality of anatomical entity physiology", + "Phenotypic abnormality", + "Abnormal muscle physiology", + "anatomical system", + "muscle organ" ], "object_taxon": null, "object_taxon_label": null, @@ -1091,25 +1429,25 @@ "url": "http://purl.obolibrary.org/obo/ECO_0000269" } ], - "has_count": 6, - "has_total": 6, + "has_count": 21, + "has_total": 21, "has_percentage": 100.0, "has_quotient": 1.0, - "grouping_key": "MONDO:0029136||biolink:has_phenotype|HP:0002500", + "grouping_key": "MONDO:0013178||biolink:has_phenotype|HP:0001252", "provided_by": "hpoa_disease_to_phenotype_edges", "provided_by_link": { "id": "hpoa_disease_to_phenotype", "url": "https://monarch-initiative.github.io/monarch-ingest/Sources/hpoa/#disease_to_phenotype" }, - "publications": ["PMID:21953594", "PMID:24957499"], + "publications": ["PMID:15148145", "PMID:18551513"], "publications_links": [ { - "id": "PMID:21953594", - "url": "http://identifiers.org/pubmed/21953594" + "id": "PMID:15148145", + "url": "http://identifiers.org/pubmed/15148145" }, { - "id": "PMID:24957499", - "url": "http://identifiers.org/pubmed/24957499" + "id": "PMID:18551513", + "url": "http://identifiers.org/pubmed/18551513" } ], "frequency_qualifier": null, diff --git a/frontend/fixtures/associations-compact.json b/frontend/fixtures/associations-compact.json index bc54a13a2..0f49788cb 100644 --- a/frontend/fixtures/associations-compact.json +++ b/frontend/fixtures/associations-compact.json @@ -1,186 +1,186 @@ { "limit": 20, "offset": 0, - "total": 4609, + "total": 4700, "items": [ { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:28596", - "subject_label": "B3GALNT2", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:Association", + "subject": "MONDO:0030712", + "subject_label": "oculopharyngodistal myopathy 4", + "predicate": "biolink:subclass_of", + "object": "MONDO:0025193", + "object_label": "oculopharyngodistal myopathy", "negated": null }, { - "category": "biolink:CorrelatedGeneToDiseaseAssociation", - "subject": "HGNC:22932", - "subject_label": "GMPPB", - "predicate": "biolink:gene_associated_with_condition", - "object": "MONDO:0018939", - "object_label": "muscle-eye-brain disease", + "category": "biolink:Association", + "subject": "MONDO:0035432", + "subject_label": "POMGNT2-related limb-girdle muscular dystrophy R24", + "predicate": "biolink:subclass_of", + "object": "MONDO:0016971", + "object_label": "limb-girdle muscular dystrophy", "negated": null }, { - 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"muscle tissue disorder", - "disposition", - "human disease" + "realizable entity", + "neuromuscular disease", + "Emery-Dreifuss muscular dystrophy", + "cardiomyopathy", + "nervous system disorder", + "heart disorder", + "familial cardiomyopathy", + "autosomal genetic disease", + "cardiogenetic disease", + "human disease", + "autosomal dominant Emery-Dreifuss muscular dystrophy", + "dilated cardiomyopathy", + "laminopathy", + "muscular dystrophy", + "hereditary neuromuscular disease", + "autosomal dominant disease", + "entity", + "disease", + "intrinsic cardiomyopathy", + "disease" ], "object_taxon": null, "object_taxon_label": null, @@ -2429,7 +2769,7 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "HGNC:26267||biolink:causes|MONDO:0014101", + "grouping_key": "HGNC:17089||biolink:causes|MONDO:0013071", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", @@ -2475,98 +2815,106 @@ "stage_qualifier_closure_label": [] }, { - "id": "uuid:80990674-fd1c-11ee-873f-57b99ea66a06", + "id": "uuid:fcac0832-185f-11ef-ae41-094949cc661d", "category": "biolink:CausalGeneToDiseaseAssociation", - "subject": "HGNC:10805", - "original_subject": "NCBIGene:6442", + "subject": "HGNC:9202", + "original_subject": "NCBIGene:10585", "subject_namespace": "HGNC", "subject_category": "biolink:Gene", "subject_closure": [], - "subject_label": "SGCA", + "subject_label": "POMT1", "subject_closure_label": [], "subject_taxon": "NCBITaxon:9606", "subject_taxon_label": "Homo sapiens", "predicate": "biolink:causes", - "object": "MONDO:0011968", - "original_object": "OMIM:608099", + "object": "MONDO:0012248", + "original_object": "OMIM:609308", "object_namespace": "MONDO", "object_category": "biolink:Disease", "object_closure": [ - "MONDO:0000429", - "MONDO:0005217", - "MONDO:0005021", - "MONDO:0003847", + "MONDO:0700223", + "BFO:0000002", + "MONDO:0100546", + "MONDO:0015152", + "MONDO:0005071", "MONDO:0016106", "MONDO:0100545", "MONDO:0002081", + "MONDO:0016184", "OGMS:0000031", - "MONDO:0016971", - "BFO:0000016", - "MONDO:0020120", - "MONDO:0011968", - "MONDO:0100546", - "MONDO:0016141", - "MONDO:0004995", - "MONDO:0016140", - "MONDO:0700223", - "MONDO:0000591", - "MONDO:0015152", - "MONDO:0004994", - "MONDO:0005071", - "MONDO:0005267", + "MONDO:0016155", "BFO:0000017", "MONDO:0019056", - "BFO:0000020", - "MONDO:0100547", - "MONDO:0016139", - "MONDO:0700096", "BFO:0000001", - "MONDO:0000001", "MONDO:0020121", - "BFO:0000002", + "BFO:0000016", + "MONDO:0020120", + "MONDO:0015286", + "MONDO:0018282", + "MONDO:0000001", + "MONDO:0024322", + "MONDO:0012248", "MONDO:0006025", + "MONDO:0005066", + "MONDO:0016971", + "MONDO:0017741", + "MONDO:0016139", + "MONDO:0700096", + "MONDO:0002320", + "MONDO:0019052", + "MONDO:0700070", + "MONDO:0000173", + "MONDO:0019950", + "MONDO:0000429", + "MONDO:0018276", + "MONDO:0045010", + "BFO:0000020", "MONDO:0005336", - "MONDO:0016333", + "MONDO:0003847", "MONDO:0003939" ], - "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2D", + "object_label": "autosomal recessive limb-girdle muscular dystrophy type 2K", "object_closure_label": [ - "limb-girdle muscular dystrophy", - "cardiovascular disorder", - "sarcoglycanopathy", - "hereditary skeletal muscle disorder", "progressive muscular dystrophy", "myopathy", - "disease", - "continuant", - "autosomal recessive disease", - "intrinsic cardiomyopathy", - "entity", + "hereditary disease", + "muscle tissue disorder", + "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan", + "disorder of glycosylation", + "autosomal recessive limb-girdle muscular dystrophy type 2K", "disposition", "skeletal muscle disorder", - "cardiomyopathy", + "congenital disorder of glycosylation", + "hereditary skeletal muscle disorder", + "hereditary neurological disease", + "musculoskeletal system disorder", + "qualitative or quantitative defects of protein O-mannosyltransferase 1", + "metabolic disease", + "realizable entity", + "neuromuscular disease", + "autosomal recessive limb-girdle muscular dystrophy", "nervous system disorder", - "heart disorder", - "familial cardiomyopathy", - "qualitative or quantitative defects of alpha-sarcoglycan", - "disease", - "muscular dystrophy", - "autosomal recessive limb-girdle muscular dystrophy type 2D", - "hereditary neuromuscular disease", - "familial dilated cardiomyopathy", - "dilated cardiomyopathy", - "hereditary disease", + "continuant", + "congenital nervous system disorder", + "inborn errors of metabolism", "autosomal genetic disease", + "muscular dystrophy-dystroglycanopathy", + "glycoprotein metabolism disease", "specifically dependent continuant", - "neuromuscular disease", - "autosomal recessive limb-girdle muscular dystrophy", - "realizable entity", - "hereditary neurological disease", - "musculoskeletal system disorder", - "muscle tissue disorder", - "cardiogenetic disease", "qualitative or quantitative protein defects in neuromuscular diseases", - "human disease" + "human disease", + "myopathy caused by variation in POMT1", + "muscular dystrophy-dystroglycanopathy, type C", + "congenital muscular dystrophy", + "limb-girdle muscular dystrophy", + "disorder of protein O-glycosylation", + "muscular dystrophy", + "hereditary neuromuscular disease", + "entity", + "qualitative or quantitative defects of alpha-dystroglycan", + "disease", + "autosomal recessive disease", + "disease" ], "object_taxon": null, "object_taxon_label": null, @@ -2586,7 +2934,7 @@ "has_total": null, "has_percentage": null, "has_quotient": null, - "grouping_key": "HGNC:10805||biolink:causes|MONDO:0011968", + "grouping_key": "HGNC:9202||biolink:causes|MONDO:0012248", "provided_by": "hpoa_gene_to_disease_edges", "provided_by_link": { "id": "hpoa_gene_to_disease", diff --git a/frontend/fixtures/autocomplete.json b/frontend/fixtures/autocomplete.json index 72ec3b7ec..b59090e47 100644 --- a/frontend/fixtures/autocomplete.json +++ b/frontend/fixtures/autocomplete.json @@ -12,7 +12,6 @@ "description": "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.", "xref": [ "DOID:0111095", - "EFO:0009044", "GARD:15170", "GTR:AN1051558", "NCIT:C125702", @@ -117,940 +116,1576 @@ "Male infertility" ], "has_phenotype_closure": [ - "HP:0000789", "UPHENO:0049964", "HP:0003254", - "UPHENO:0049671", + "HP:0003213", "UPHENO:0051124", - "UPHENO:0049952", - "HP:0003214", - "HP:0000365", - "UPHENO:0052231", + "GO:0006950", + "GO:0051716", + "GO:0051319", + "GO:0007049", + "GO:0022402", + "UBERON:0002105", + "GO:0007605", + "GO:0050954", + "HP:0000364", + "UPHENO:0050625", "HP:0000598", "UPHENO:0005518", - "UPHENO:0050620", - "UPHENO:0080585", - "HP:0012373", + "UPHENO:0052970", + "HP:0000486", + "NBO:0000444", + "UBERON:0006800", "HP:0000549", + "UBERON:0000466", + "BFO:0000141", + "UPHENO:0049622", + "GO:0007610", + "HP:0000496", + "UPHENO:0080585", + "UBERON:0010222", + "NBO:0000338", + "HP:0011018", + "UBERON:0000015", + "GO:0050896", + 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"HP:0006501", - "UPHENO:0082682", + "HP:0000234", + "UPHENO:0085873", + "NCBITaxon:33154", + "HP:0000252", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0074575", + "UPHENO:0046707", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "CL:0000408", + "GO:0007283", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0000948", + "UBERON:0000915", + "UBERON:0005181", + "UPHENO:0080362", + "UBERON:0001009", + "NCBITaxon:6072", + "UPHENO:0076776", + "HP:0030680", + "HP:0001626", + "UPHENO:0005016", + "UBERON:0007100", + "GO:0050794", + "UPHENO:0085875", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "UBERON:0002102", "UPHENO:0003811", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0001574", + "UPHENO:0082682", + "UPHENO:0074589", "UPHENO:0080221", - "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", + "HP:0003251", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0009823", + "HP:0001034", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UBERON:0002417", + "UPHENO:0074572", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "HP:0000789", + "UBERON:0004710", + "UPHENO:0088162", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", "HP:0008373", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", 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"HP:0040072", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0086956", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0004176", + "UBERON:0002104", "HP:0006503", - "HP:0000085", - "HP:0003953", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0002973", - "UPHENO:0076703", - "HP:0003974" - ], - "has_phenotype_closure_label": [ - "Infertility", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", - "delayed biological_process", - "Growth delay", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0002332", + "HP:0012874", + "HP:0040070", + "UBERON:0000955", + "UBERON:0010703", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0009341", + "UPHENO:0079872", + "HP:0009142", + "UBERON:0004535", + "UBERON:0002495", + "UPHENO:0002751", + "UPHENO:0085356", + "GO:0019953", + "UBERON:0001423", + "UPHENO:0087355", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "UBERON:0011584", + "UPHENO:0084987", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "HP:0008669", + "HP:0001627", + "UPHENO:0049970", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0052231", + "HP:0000028", + "HP:0000811", + "UPHENO:0052778", + "HP:0003953", + "GO:0048609", + "GO:0003006", + "HP:0001000", + "UPHENO:0080382", + "GO:0000003", + "UBERON:0011216", + "UBERON:0004175", + "HP:0004322", + "UPHENO:0087973", + "HP:0000035", + "UPHENO:0078452", + "HP:0005918", + "HP:0012243", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UPHENO:0086201", + "UPHENO:0086198", + "HP:0012041", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "UPHENO:0005597", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000473", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "HP:0001871", + "UBERON:0000079", + "CL:0000586", + "UPHENO:0076718", + "UPHENO:0005651", + "UPHENO:0053298", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "CL:0000413", + "CL:0000039", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411" + ], + "has_phenotype_closure_label": [ + "Decreased fertility", + "Decreased fertility in males", + "abnormal cellular response to stress", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle phase", + "cell cycle process", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal ear", + "ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "immaterial anatomical entity", + "Strabismus", + "body part movement", + "anatomical line", + "behavior process", + "behavior", + "abnormal eye movement", + "eye movement", + "response to stimulus", + "abnormal response to stimulus", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", + "delayed biological_process", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Abnormality of eye movement", "concave 3-D shape anatomical entity", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", + "U-shaped anatomical entity", + "3-D shape anatomical entity", + "shape anatomical entity", + "Horseshoe kidney", "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", + "Hematological neoplasm", + "vasculature", + "abnormality of cardiovascular system physiology", "Bruising susceptibility", - "abnormal blood circulation", "Subcutaneous hemorrhage", + "Abnormal bleeding", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", + "Abnormality of blood circulation", + "vascular system", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "phalanx", + "digitopodium bone", + "skeleton of manual acropodium", + "acropodial skeleton", "Duplication of phalanx of hand", - "Male infertility", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", + "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", + "manual digit bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal phalanx morphology", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cellular process", + "abnormal growth", + "decreased anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "decreased height of the anatomical entity", + "visual system", + "abnormal size of eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of the eye", + "orbital region", + "decreased size of the eyeball of camera-type eye", "Abnormality of the face", + "Microphthalmia", + "sense organ", + "eyeball of camera-type eye", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "simple eye", + "abnormal orbital region", "abnormal face morphology", - "U-shaped anatomical entity", "Abnormal eye morphology", - "Abnormality of the orbital region", + "camera-type eye", + "sensory system", "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", + "enucleated reticulocyte", + "abnormally decreased number of reticulocyte", + "Reticulocytopenia", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "axial skeleton plus cranial skeleton", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormality of anatomical entity physiology", + "skeleton of manus", + "abnormal manus morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", + "autopodial skeleton", + "paired limb/fin skeleton", + "abnormal digit morphology", + "absent anatomical entity", + "system", + "aplasia or hypoplasia of manual digit 1", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "agenesis of anatomical entity", + "multi-limb segment region", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "manual digit plus metapodial segment", + "digit", + "Hyperpigmentation of the skin", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "aplastic anatomical entity", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "genitourinary system", "decreased qualitatively reproductive process", "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", + "occurrent", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "entity", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "abnormal skeletal system morphology", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "appendicular skeletal system", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "face", + "aplasia or hypoplasia of manual digit", + "skeleton", + "male gamete generation", + "Cognitive impairment", + "abnormal male reproductive system", + "paired limb/fin", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "Male infertility", + "abnormal limb morphology", + "regulation of metabolic process", "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "Abnormal internal genitalia", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "Pancytopenia", - "abnormally decreased number of platelet", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormal bone marrow cell morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", "Abnormality of limb bone morphology", "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal appendicular skeleton morphology", + "cardiovascular system", "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "acropodium region", + "Intellectual disability", + "bone marrow", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "cell cycle", + "pectoral complex", + "trunk region element", + "Anemic pallor", + "cellular metabolic process", + "Abnormality of neutrophils", + "abnormal central nervous system morphology", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "Macule", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", + "sexual reproduction", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "Short thumb", + "Abnormality of the kidney", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormal cerebral morphology", + "abnormal blood circulation", + "arm bone", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal hematopoietic system", + "Renal agenesis", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", + "bone cell", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "thoracic cavity element", "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormality of ear physiology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", "abnormal arm", + "Atypical behavior", "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", "absent digit", - "Absent forearm bone", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "abnormal renal system", + "phenotype", + "Abnormal cell morphology", + "decreased qualitatively sensory perception of sound", "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", + "abnormally decreased number of hematopoietic cell", "phenotype by ontology source", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormal upper limb bone morphology", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", + "quality", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", "abnormal phenotype by ontology source", + "absent manual digit", "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormal finger phalanx morphology", + "subdivision of trunk", + "anatomical system", + "material anatomical entity", + "Hypergonadotropic hypogonadism", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "continuant", + "abnormal neutrophil", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", + "abnormal nervous system", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "skeletal element", + "zeugopod", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "regional part of nervous system", + "abdominal segment element", + "abnormal reproductive system morphology", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "DNA damage response", + "lateral structure", + "abnormal vasculature", + "abnormal genitourinary system", + "changed developmental process rate", + "biological regulation", + "abdominal segment of trunk", + "biological_process", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "abnormal head morphology", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "abnormal gamete generation", + "leukocyte", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "abnormality of nervous system physiology", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "limb endochondral element", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Decreased fertility in males", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", - "continuant", - "Abnormality of brain morphology", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "abnormal external genitalia", - "Abnormality of thrombocytes", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", "abnormal limb bone", "Abnormal nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", - "absent radius bone in the independent continuant", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "skeleton of manual digitopodium", + "primary circulatory organ", + "manual digit 1 plus metapodial segment", + "abdomen", + "viscus", + "abnormal hematopoietic cell morphology", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Absent forearm bone", + "Leukemia", "abnormal cell morphology", "abnormal nervous system morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", + "organism", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "Abnormal granulocyte count", + "eye", + "compound organ", + "limb long bone", + "zeugopodial skeleton", + "Abnormal granulocyte morphology", + "neutrophil", + "manual digit 1 phalanx", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "multicellular organismal reproductive process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Infertility", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "decreased length of manual digit", + "abnormal craniocervical region morphology", + "immaterial entity", "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "Abnormality of head or neck", "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", + "abnormal reproductive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Decreased head circumference", + "abnormal telencephalon morphology", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "circulatory organ", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", "abnormal long bone morphology", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", "abnormal heart morphology", - "delayed growth", + "aplasia or hypoplasia of radius bone", + "Abnormal reproductive system morphology", "abnormal cardiovascular system", - "Abnormality of bone marrow cell morphology", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "Abnormality of skin morphology", "Abnormality of the integument", "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", + "Abnormality of bone marrow cell morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", + "Neutropenia", + "reproductive structure", + "abnormal integument", + "Growth delay", + "kidney", + "abnormal biological_process", "Cafe-au-lait spot", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", "abnormal pigmentation in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", + "Abnormal forearm bone morphology", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Decreased fertility", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", + "Abnormal heart morphology", "abnormality of reproductive system physiology", - "Hypogonadism", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", + "limb segment", + "absent sperm", + "Abnormality of reproductive system physiology", + "gamete", + "Puberty and gonadal disorders", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", + "Anemia", + "abnormal shape of continuant", + "trunk", + "abnormal bone marrow cell", + "oxygen accumulating cell", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", + "absent kidney", "Absent radius", - "Aplasia/Hypoplasia of the radius", - "absent radius bone in the forelimb", - "absent anatomical entity in the skeletal system", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the vasculature", + "abnormal radius bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "forelimb zeugopod", + "abnormal testis morphology", "aplastic forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "absent radius bone", - "abnormal forelimb zeugopod bone", - "Aplasia involving bones of the upper limbs", + "absent forelimb zeugopod bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "eukaryotic cell", "abnormal limb long bone morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "abnormal forelimb zeugopod morphology", - "abnormal cellular metabolic process", - "Abnormality of cardiovascular system morphology", + "Aplasia involving bones of the upper limbs", + "Pallor", "abnormal bone of pectoral complex morphology", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal number of anatomical enitites of type platelet" + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb zeugopod skeleton", + "abnormal size of skull", + "forelimb long bone", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "abnormal male reproductive system morphology", + "manual digit", + "abnormal multicellular organismal reproductive process", + "abnormal granulocyte morphology", + "Azoospermia", + "Abnormal testis morphology", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "absent gamete", + "organism substance", + "interphase", + "semen", + "Abnormality of male external genitalia", + "anatomical entity", + "decreased qualitatively biological_process", + "platelet", + "absent sperm in the independent continuant", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "developmental process involved in reproduction", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "germ cell", + "external male genitalia", + "testis", + "Abnormal external genitalia", + "abnormal gamete", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "male organism", + "male germ cell", + "internal genitalia", + "abnormal internal genitalia", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "sensory perception", + "abnormal developmental process", + "haploid cell", + "sperm", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "skeleton of digitopodium", + "Short digit", + "Short finger", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "reticulocyte" ], "has_phenotype_count": 34, "highlight": null, @@ -1085,10 +1720,10 @@ "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", "HP:0007018", - "HP:0000582", "HP:0008551", + "HP:0040012", + "HP:0000582", "HP:0000470", "HP:0009777", "HP:0004590", @@ -1098,8 +1733,8 @@ "HP:0000465", "HP:0000957", "HP:0002023", - "HP:0000316", "HP:0001510", + "HP:0000316", "HP:0001776", "HP:0000347", "HP:0003974", @@ -1123,10 +1758,10 @@ "HP:0000089" ], "has_phenotype_label": [ - "Chromosome breakage", "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", "Microtia", + "Chromosome breakage", + "Upslanted palpebral fissure", "Short neck", "Absent thumb", "Hypoplastic sacrum", @@ -1136,8 +1771,8 @@ "Webbed neck", "Cafe-au-lait spot", "Anal atresia", - "Hypertelorism", "Growth delay", + "Hypertelorism", "Bilateral talipes equinovarus", "Micrognathia", "Absent radius", @@ -1161,1050 +1796,1786 @@ "Renal hypoplasia" ], "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0087355", + "UPHENO:0081210", + "UPHENO:0087123", + "HP:0005528", + "UBERON:0000479", + "HP:0002715", + "HP:0005561", "UPHENO:0085195", - "UPHENO:0002948", + "HP:0012145", + "UPHENO:0087355", "UPHENO:0087278", - "HP:0000422", + "UPHENO:0006147", + "UPHENO:0006161", "HP:0000431", + "UBERON:0008340", "UPHENO:0081800", "HP:0000568", + "HP:0100887", "HP:0008056", - "UPHENO:0075219", - "UPHENO:0069523", "UPHENO:0000552", - "UPHENO:0050372", - "HP:0012447", - "UPHENO:0050406", - "HP:0002715", - "HP:0002188", - "UPHENO:0062527", + "GO:0048709", "HP:0012448", - "UPHENO:0084007", + "UPHENO:0050372", + "GO:0048869", + "GO:0007399", + "GO:0032291", + "GO:0010001", + "GO:0022008", + "HP:0000122", + "UPHENO:0076779", + "UPHENO:0083952", + "UBERON:8450002", + "UPHENO:0026980", "UPHENO:0008593", - "HP:0000079", - "HP:0012210", - "HP:0010935", + "UBERON:0000916", + "UPHENO:0087427", + "GO:0030154", + "UBERON:0002113", + "UBERON:0011143", "HP:0012130", - "UPHENO:0084928", - "HP:0001871", + "CL:0000232", + "CL:0000763", + "GO:0014003", "HP:0001877", + "UPHENO:0085118", + "UBERON:0002390", "HP:0001903", + "UPHENO:0004459", + "HP:0020047", + "UPHENO:0087430", + "UPHENO:0082454", "UPHENO:0041458", + "UPHENO:0041080", + "UPHENO:0075219", + "HP:0005105", + "UBERON:0000004", "HP:0000366", - "HP:0000436", - "UPHENO:0088168", + "UBERON:0002268", "UPHENO:0082467", - "UPHENO:0002597", - "HP:0000054", - "HP:0003241", - "HP:0008736", - "UPHENO:0000553", + "UPHENO:0081585", + "UPHENO:0082356", + "UPHENO:0041203", + "HP:0000436", + "UBERON:0000989", + "UBERON:0001008", + "UPHENO:0081320", + "HP:0000032", + "HP:0001871", + "UBERON:0000079", + "UBERON:0008811", + "UBERON:0004053", + "UPHENO:0080209", "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "HP:5201015", + "HP:0008736", + "HP:0010935", + "UPHENO:0002907", + "HP:0003241", + "UPHENO:0087802", + "HP:0000054", + "HP:0010461", + "UPHENO:0050406", + "HP:0000811", + "UBERON:0003101", + "UPHENO:0002948", + "UPHENO:0087643", + "UBERON:0001716", + "UBERON:0002553", + "UBERON:0001709", + "UPHENO:0033635", + "UPHENO:0075655", + "HP:0000175", + "UBERON:0004089", + "UPHENO:0076786", + "UBERON:0000464", "HP:0000202", - "HP:0000174", - "UPHENO:0006147", - "UPHENO:0087585", - "UPHENO:0033572", + "NCBITaxon:6072", + "UBERON:0000063", + "UBERON:0000073", + "NCBITaxon:131567", + "NCBITaxon:1", + "UPHENO:0076720", + "NCBITaxon:33154", + "UPHENO:0020013", + "UBERON:0002028", + "UBERON:0002037", + "UBERON:0001895", + "UPHENO:0081601", + "UBERON:0004732", + "HP:0011283", + "NCBITaxon:2759", + "GO:0007417", + "UBERON:0004176", + "UBERON:0004733", "UPHENO:0080089", - "HP:0001321", - "UPHENO:0068984", - "UPHENO:0087548", - "UPHENO:0033635", "HP:0002977", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0081099", - "HP:0011458", "HP:0011968", - "HP:0000811", - "HP:0025032", - "UPHENO:0063639", - "HP:0002589", "UPHENO:0063603", + "HP:0002589", "HP:0003221", - "HP:0000078", + "HP:0001263", + "UPHENO:0020950", + "UPHENO:0003053", + "UPHENO:0002642", + "UPHENO:0087547", + "HP:0000008", + "UBERON:0003134", + "UBERON:0000995", + "UPHENO:0005170", + "HP:0000130", + "UBERON:0000990", "UPHENO:0003055", - "HP:0010460", "HP:0000151", - "UPHENO:0002598", - "UPHENO:0087974", - "UPHENO:0020950", + "UBERON:0005156", + "UPHENO:0025875", + "HP:0010460", + "UBERON:0003100", "UPHENO:0009305", - "UPHENO:0087339", - "UPHENO:0026954", - "UPHENO:0026984", - "UPHENO:0025708", - "HP:0008678", - "UPHENO:0052178", - "HP:0012145", + "UBERON:0012128", + "GO:0009790", "UPHENO:0080393", - "UPHENO:0075902", - "UPHENO:0081436", - "UPHENO:0085144", - "HP:0000309", - "UPHENO:0050108", + "CL:0001035", + "UPHENO:0050034", "UPHENO:0005642", - "UPHENO:0080382", + "UPHENO:0005433", "UPHENO:0052778", - "HP:0000437", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", + "UPHENO:0002832", + "UPHENO:0041098", + "UBERON:0013515", + "GO:0032502", + "UPHENO:0068984", + "UPHENO:0050108", + "UBERON:0001423", + "UBERON:0003607", + "UBERON:0002405", + "UBERON:0003606", + "HP:0003974", "UPHENO:0076718", - "HP:0002973", - "UPHENO:0025211", - "HP:0012758", - "UPHENO:0009399", - "HP:0040072", "HP:0040070", - "UPHENO:0080187", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0020013", - "HP:0006503", "HP:0009825", + "HP:5201015", + "HP:0009822", + "HP:0000119", "UPHENO:0081511", - "UPHENO:0050034", + "UBERON:0000167", + "UPHENO:0086956", + "HP:0009823", + "UPHENO:0026023", + "UBERON:0003466", + "UBERON:0002471", + "UBERON:0010741", + "HP:0006501", + "HP:0025461", + "UPHENO:0009399", + "UBERON:0002386", + "UPHENO:0062515", + "UPHENO:0087585", + "UPHENO:0079872", "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0075182", - "UPHENO:0082454", - "UPHENO:0081566", + "HP:0003953", + "UBERON:0000165", + "UPHENO:0002828", + "UBERON:0002514", + "UBERON:0007842", + "UPHENO:0081141", + "UBERON:0004768", "UPHENO:0083646", - "HP:0009118", - "HP:0011821", - "HP:0000277", - "UPHENO:0080158", - "UPHENO:0081786", - "HP:0010461", - "UPHENO:0003053", - "HP:0000929", + "HP:0012447", + "HP:0034261", "HP:0031816", "UPHENO:0081314", - "UPHENO:0076800", - "UPHENO:0087123", + "UBERON:0007375", + "UBERON:0012360", + "GO:0007272", + "UPHENO:0002751", + "UBERON:0002495", + "UBERON:0003278", + "GO:0042063", + "HP:0000036", + "UBERON:0011156", + "UBERON:0003462", + "UBERON:0001684", + "HP:0000347", + "UBERON:0003135", + "HP:0009116", + "UBERON:0000489", + "UBERON:0010323", + "HP:0002692", + "UBERON:0004756", + "HP:0030791", + "HP:0008684", "UPHENO:0081788", - "UPHENO:0080087", - "UPHENO:0086932", "UPHENO:0088116", + "HP:0001167", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0003074", + "UPHENO:0088162", + "UBERON:0004710", + "HP:0002031", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0087974", + "HP:0045060", + "HP:0002032", + "UPHENO:0086633", + "UBERON:0006072", + "HP:0040072", + "UBERON:0010912", + "UBERON:0006077", "UPHENO:0002443", - "UPHENO:0069249", - "UPHENO:0081575", - "HP:0001762", - "HP:0020047", - "HP:0005656", - "UPHENO:0041203", - "HP:0002814", - "HP:0001776", - "UPHENO:0003070", - "UPHENO:0086628", - "UPHENO:0049874", - "HP:0001510", - "HP:0001507", - "HP:0100886", - "UPHENO:0002595", - "UPHENO:0021474", - "HP:0000478", - "UPHENO:0065599", - "UPHENO:0026628", - "HP:0012372", - "UPHENO:0001072", - "UPHENO:0081141", - "UPHENO:0003020", - "UPHENO:0075655", - "HP:0009116", + "HP:0025033", + "HP:0000812", + "UPHENO:0086635", + "UBERON:0007196", + "UBERON:0008001", + "HP:0011282", + "UBERON:0002204", + "UBERON:0003458", + "UBERON:0002412", + "UPHENO:0061854", + "UPHENO:0084457", + "UBERON:0002101", + "UBERON:0002090", + "HP:0009601", + "UBERON:0034925", + "HP:0000470", + "HP:0200006", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0000033", + "CL:0000988", + "UBERON:0002413", + "UBERON:0003103", + "UPHENO:0088186", + "UBERON:0000075", + "UPHENO:0002901", + "HP:0002188", + "UPHENO:0033572", + "HP:0009815", + "HP:0025668", + "UPHENO:0076739", + "UBERON:0010363", + "HP:0009121", + "UBERON:0000015", + "HP:0011842", + "CL:0000764", + "UPHENO:0087089", + "UPHENO:0003085", + "UBERON:0015007", "HP:0000316", - "HP:0009892", - "UPHENO:0074228", - "UPHENO:0086644", - "UPHENO:0062515", - "HP:0004378", - "UPHENO:0076786", - "HP:0002818", - "HP:0002023", - "UPHENO:0081320", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0000122", - "UPHENO:0002839", - "HP:0034915", - "HP:0011297", - "UPHENO:0087472", - "HP:0000369", - "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0082356", - "UPHENO:0084761", - "HP:0011121", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0087349", - "UPHENO:0081451", - "UPHENO:0002813", - "HP:0002032", - "HP:0003974", - "UPHENO:0076703", - "UPHENO:0046505", - "UPHENO:0076724", - "HP:0000924", - "HP:0001155", - "HP:0000032", - "UPHENO:0022529", - "HP:0000465", - "UPHENO:0002903", - "HP:0002575", - "UPHENO:0026506", - "UPHENO:0041226", - "HP:0011355", - "UPHENO:0081091", - "UPHENO:0081790", - "UPHENO:0049586", - "UPHENO:0087806", - "UPHENO:0074584", - "UPHENO:0026181", - "UPHENO:0080165", - "HP:0002921", - "UPHENO:0081210", - "HP:0001883", + "GO:0022010", "UPHENO:0087563", - "HP:0100887", - "UPHENO:0005170", - "UPHENO:0003074", - "UPHENO:0068971", - "HP:0012759", - "UPHENO:0080111", - "UPHENO:0075195", - "HP:0011793", - "UPHENO:0069196", - "UPHENO:0049990", - "UPHENO:0082682", - "HP:0005105", - "UPHENO:0000541", - "UPHENO:0076785", - "HP:0000752", - "UPHENO:0005597", - "UPHENO:0081792", - "UPHENO:0087478", - "UPHENO:0086595", + "UPHENO:0005016", + "HP:0001883", + "UBERON:0034921", + "UBERON:0005451", + "UBERON:0002371", + "UPHENO:0075997", + "UBERON:0006983", + "GO:0008150", + "UPHENO:0076703", + "HP:0000582", + "BFO:0000003", + "UPHENO:0080171", + "UBERON:0000047", + "CL:0000081", + "UBERON:0000064", + "UBERON:0005434", + "UBERON:0002529", + "UBERON:0001711", + "GO:0010556", + "PR:000050567", + "GO:0044237", + "UPHENO:0002813", + "UPHENO:0025100", "HP:0000492", - "UPHENO:0001002", + "UBERON:0007914", "UPHENO:0087924", - "UPHENO:0020584", - "HP:0002813", - "HP:0000271", - "HP:0011283", - "UPHENO:0075997", - "UPHENO:0082129", - "HP:0008050", - "UPHENO:0005016", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "HP:0000315", - "UPHENO:0005986", - "HP:0001574", - "UPHENO:0021304", + "UBERON:0001137", + "UPHENO:0001002", + "HP:0000163", + "UBERON:0002103", + "UPHENO:0076761", "HP:0032039", - "UPHENO:0041041", - "UPHENO:0087006", - "UPHENO:0085118", - "UPHENO:0080196", - "HP:0000001", - "HP:0007400", - "HP:0008772", - "HP:0001939", - "UPHENO:0031839", - "UPHENO:0001003", - "HP:0000153", - "HP:0006265", + "UPHENO:0021791", + "UBERON:0003133", + "UBERON:5006048", + "CL:0000329", + "UBERON:0001474", + "HP:0001321", + "GO:0006259", + "UPHENO:0087806", + "HP:0000708", + "UBERON:0001456", + "GO:0008366", + "HP:0000752", + "UPHENO:0003058", + "UBERON:0000025", + "UBERON:0004088", + "UPHENO:0062527", + "UPHENO:0086824", + "UBERON:0000161", + "UBERON:0011138", + "UBERON:0002513", + "GO:0048468", "UPHENO:0084012", - "UPHENO:0041098", - "UPHENO:0003085", - "UPHENO:0087089", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0050845", - "HP:0011282", - "UPHENO:0074589", + "GO:0031323", + "UPHENO:0026628", + "UBERON:0000019", + "UBERON:0010708", + "UBERON:0000970", + "UBERON:0004742", + "CL:0000000", + "UPHENO:0002803", + "UBERON:0005172", + "UPHENO:0002934", + "UPHENO:0004536", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0012141", + "HP:0002664", + "UBERON:0001130", + "UBERON:0000465", + "HP:0003220", + "HP:0010938", + "HP:0008050", + "GO:0043170", + "HP:0000437", + "GO:0006139", + "GO:0046483", + "UPHENO:0084766", + "GO:0010629", + "UBERON:0003457", + "UPHENO:0050021", + "UPHENO:0050121", + 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"HP:0000951", - "HP:0030791", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0088170", - "UPHENO:0087547", - "UPHENO:0001001", - "HP:0000470", - "HP:0200006", - "UPHENO:0086589", - "UPHENO:0076791", - "UPHENO:0080209", - "UPHENO:0087802", - "HP:0001000", - "HP:0000812", - "HP:0002778", - "HP:0007018", - "UPHENO:0050021", - "HP:0000598", - "BFO:0000001", - "UPHENO:0002910", - "UPHENO:0049748", - "UPHENO:0055730", - "UPHENO:0076723", - "UPHENO:0080171", - "HP:0000582", - "HP:0001263", - "UPHENO:0009396", - "HP:0008517", - "HP:0005561", - "UPHENO:0083952", - "UPHENO:0049873", - "UPHENO:0002934", - "UPHENO:0004536", - "HP:0009122", - "UPHENO:0004523", - "UPHENO:0046571", - "HP:0001172", - "HP:0000118", - "HP:0011446", - "UPHENO:0087374", - "UPHENO:0076752", - "HP:0001760", - "UPHENO:0072195", - "UPHENO:0002536", - "UPHENO:0076692", - "HP:0000104", - "UPHENO:0050113", - "HP:0000008", - "UPHENO:0015280", - "UPHENO:0004459", - "UPHENO:0054957", - "UPHENO:0061854", - "HP:0008684", - "HP:0009777", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0031703", - "HP:0008771", + "UBERON:0015212", + "UPHENO:0087478", + "BFO:0000040", + "UPHENO:0025708", + "HP:0000929", + "GO:0034641", + "UPHENO:0002597", "UPHENO:0002764", - "HP:0025354", - "BFO:0000002", + "HP:0025032", + "UPHENO:0026984", + "HP:0031703", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0000951", + "RO:0002577", + "UBERON:0010703", + "UBERON:0000955", + "HP:0000234", "HP:0000736", + "BFO:0000002", "HP:0012639", - "UPHENO:0076720", - "HP:0000708", - "UPHENO:0082875", - "UPHENO:0087846", - "UPHENO:0056237", - "UPHENO:0049622", - "HP:0000464", - "HP:0011400", - "HP:0000175", - "UPHENO:0081783", - "UPHENO:0086824", + "UBERON:0006800", + "HP:0012758", + "HP:0002011", + "UPHENO:0074575", "UPHENO:0086172", - "HP:0000707", - "HP:0002817", - "HP:0000163", - "UPHENO:0002433", - "HP:0009121", - "UPHENO:0081435", - "UPHENO:0021791", - "UPHENO:0080662", - "UPHENO:0087510", - "UPHENO:0018424", + "GO:0050789", + "GO:0019222", + "UBERON:0004086", + "UBERON:0000153", + "HP:0008771", + "UPHENO:0049873", + "GO:0050896", + "UBERON:0011582", "HP:0000357", - "HP:5200045", - "UPHENO:0080110", - "HP:0005528", - "UPHENO:0076761", - "UPHENO:0020659", - "UPHENO:0002896", - "UPHENO:0080300", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0003811", - "UPHENO:0081598", - "UPHENO:0002880", - "UPHENO:0002830", - "UPHENO:0002642", - "UPHENO:0080325", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0083951", - "UPHENO:0026023", - "HP:0012733", - "HP:0010938", - "UPHENO:0087643", - "UPHENO:0072194", - "UPHENO:0075878", - "HP:0006496", - "HP:0000356", - "UPHENO:0014240", - "HP:0002031", - "UPHENO:0084448", - "HP:0033127", - "UPHENO:0086635", - "UPHENO:0076740", - "UPHENO:0076760", - "HP:0011024", - "UPHENO:0018414", - "UPHENO:0084763", - "UPHENO:0076779", - "UPHENO:0088185", - "UPHENO:0011498", + "UPHENO:0018424", + "UPHENO:0084007", + "GO:0031052", "HP:0040012", - "UPHENO:0081466", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0087816", - "UPHENO:0086633", - "HP:0045060", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0015203", + "UPHENO:0080325", + "BFO:0000004", + "UPHENO:0002844", + "UPHENO:0041041", + "BFO:0000015", + "UPHENO:0049587", + "UBERON:0010364", + "UBERON:0019231", + "UBERON:0011159", + "GO:0071704", + "GO:0042552", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0006333", + "UBERON:0005178", + "GO:0007610", + "UPHENO:0020584", + "UBERON:0005174", + "HP:0006503", + "UBERON:0002104", + "HP:5200045", + "UPHENO:0002433", "UPHENO:0006910", "HP:0040064", - "HP:0001167", - "HP:0003319", - "HP:0009601", - "PATO:0000001", - "UPHENO:0026028", - "UPHENO:0080126", - "UPHENO:0084766", - "HP:0008551", - "HP:0005922", - "UPHENO:0008668", + "UPHENO:0080111", + "UBERON:0002097", + "UBERON:0000020", + "HP:0012210", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "UPHENO:0002595", + "UBERON:0004122", "UPHENO:0079826", + "UPHENO:0068971", + "UPHENO:0008668", + "HP:0000089", + "UBERON:0001444", "UPHENO:0018390", - "UPHENO:0088186", - "UPHENO:0002901", - "HP:0009815", - "UPHENO:0049700", - "HP:0005927", - "UPHENO:0081585", - "UPHENO:0076727", + "HP:0000077", + "UBERON:0002199", + "UPHENO:0087950", + "HP:0000001", + "UPHENO:0074584", + "UBERON:0001442", + "UPHENO:0002332", + "HP:0000271", + "UBERON:0002100", + "HP:5200044", + "UPHENO:0004523", + "HP:0009115", + "GO:0031049", + "UBERON:0002075", + "HP:0000422", + "UPHENO:0086932", + "UBERON:0001819", + "UPHENO:0086699", + "HP:0011446", + "HP:0002973", + "HP:0001172", + "UBERON:0011676", + "UPHENO:0000553", + "GO:0044238", + "GO:0065007", + "UBERON:0004119", + "UPHENO:0082682", + "UBERON:0001016", + "UBERON:0011137", + "UBERON:0004111", + "UPHENO:0080377", + "GO:0005623", + "UPHENO:0063639", + "GO:0006325", + "UBERON:0012477", + "UBERON:0004456", + "HP:0001317", + "UBERON:0004175", + "UBERON:0011216", + "HP:0011024", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0009892", + "UPHENO:0076785", + "GO:0009892", + "UPHENO:0080079", + "HP:0011844", + "UBERON:0004709", + "UBERON:0010000", + "UPHENO:0080110", + "PATO:0000001", + "UPHENO:0084928", + "UPHENO:0063565", + "UPHENO:0026028", + "GO:0050794", + "UBERON:0000474", + "HP:0025354", + "UPHENO:0069196", + "BFO:0000141", + "UBERON:0013701", + "GO:0032501", + "UPHENO:0026506", + "HP:0001939", + "UPHENO:0050845", + "UPHENO:0081566", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0059829", + "HP:0000356", + "UPHENO:0069110", + "UPHENO:0014240", + "GO:0007275", + "HP:0000924", + "UBERON:0004121", + "HP:0007360", + "UPHENO:0075878", + "UBERON:0001434", + "GO:0048856", + "UPHENO:0072194", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UBERON:0000062", + "UPHENO:0080585", + "GO:0010605", + "UBERON:0002387", + "UPHENO:0012541", + "UPHENO:0080187", + "UBERON:0013702", + "UPHENO:0081099", + "UPHENO:0049586", + "UPHENO:0081790", + "UPHENO:0082129", + "HP:0001511", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0076730", "UPHENO:0081119", + "HP:0000078", + "UBERON:0003690", "UPHENO:0018426", - "UPHENO:0002708", - "UPHENO:0080099", - "UPHENO:0002833", - "UPHENO:0079876", - "UPHENO:0076695", - "UPHENO:0054970", - "UPHENO:0081328", - "HP:0034261", - "HP:0005107", - "UPHENO:0069391", - "HP:0008518", - "HP:0025461", - "UPHENO:0076805", + "UBERON:0011595", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0034923", + "UPHENO:0041226", + "UBERON:0011158", + "UBERON:0000974", + "UPHENO:0086628", + "HP:0000377", + "UPHENO:0076803", + "UBERON:0001690", + "UPHENO:0009396", + "UPHENO:0076752", + "UBERON:0002105", + "UPHENO:0075902", + "GO:0016043", + "UPHENO:0015280", + "UBERON:0000060", + "GO:0090304", + "UPHENO:0050113", + "UPHENO:0052178", + "HP:0008551", + "HP:0005922", + "UBERON:0034929", + "UPHENO:0087907", + "GO:0009987", + "UPHENO:0087501", + "UPHENO:0076800", + "GO:0006725", + "GO:0008152", + "HP:0000174", + "UPHENO:0002896", + "GO:0043933", + "UPHENO:0005986", + "HP:0000079", + "UPHENO:0026128", + "GO:0048523", + "GO:0009889", + "UPHENO:0087472", + "HP:0000707", + "UPHENO:0049748", + "HP:0012759", + "HP:0002118", + "HP:0007018", + "UBERON:0003113", + "HP:0002778", + "UPHENO:0050116", "HP:0030669", + "UPHENO:0002536", "HP:0004590", - "HP:0025033", - "UPHENO:0088162", - "HP:0000953", + "UBERON:5002389", + "UBERON:0010538", + "GO:0048519", + "HP:0008772", + "UBERON:0006058", + "UBERON:0007827", + "UBERON:0002470", + "UBERON:0012139", + "UPHENO:0080114", + "UPHENO:0046571", + "HP:0002086", + "UPHENO:0060026", + "UBERON:0000026", + "UBERON:0003947", + "UBERON:0002355", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0002880", + "UBERON:0012475", + "UBERON:0010712", + "UBERON:0002091", + "UBERON:0001440", + "UPHENO:0076723", + "UPHENO:0055730", + "UPHENO:0002905", + "UBERON:0003975", + "UPHENO:0080099", + "UPHENO:0008523", + "UBERON:0001062", + "UBERON:0005881", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0076727", + "UBERON:0010758", + "UBERON:0002193", + "UPHENO:0056237", + "UPHENO:0011498", + "UBERON:0004381", + "UBERON:0007272", + "UBERON:0002428", + "UPHENO:0054957", + "UBERON:0019221", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0080126", + "UPHENO:0085144", + "HP:0000238", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0084761", + "HP:0011297", + "UPHENO:0002708", + "HP:0040068", + "UPHENO:0026183", + "UPHENO:0056072", + "UBERON:0011249", + "UPHENO:0001001", + "HP:0002817", + "UBERON:0013765", + "UPHENO:0085068", + "UBERON:0004708", + "UBERON:0004120", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0003129", + "HP:0000309", + "UBERON:0004375", + "UPHENO:0076695", + "UPHENO:0075182", + "HP:0009122", + "HP:0008517", + "UBERON:0006314", + "UBERON:0005177", + "UPHENO:0081436", + "UPHENO:0081328", + "UBERON:0005173", + "HP:0005107", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0083951", + "UPHENO:0087374", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0081792", + "UPHENO:0049990", + "UPHENO:0020659", "HP:0012243", + "HP:0008518", + "HP:0008678", + "GO:0006996", + "UBERON:0005179", + "UBERON:0003828", + "UBERON:0003463", + "GO:0060255", + "UBERON:0006075", + "UPHENO:0076735", + "UBERON:0000463", + "UBERON:0004247", + "UBERON:0000117", + "UBERON:0001005", + "HP:0000464", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0005944", + "UPHENO:0003020", "HP:0005607", - "UPHENO:0087433", + "HP:0002575", + "HP:0000315", + "UBERON:0001004", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0005409", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0080662", + "UPHENO:0069523", "UPHENO:0002725", - "HP:0000050", - "UPHENO:0076735", - "UPHENO:0088047", - "HP:0012718", - "UPHENO:0002635", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026980", - "UPHENO:0056212", - "HP:0000130", + "HP:0011793", + "UBERON:0003126", + "UPHENO:0086700", "UPHENO:0020748", - "HP:0000347", - "HP:0025031", - "HP:0000377", - "UPHENO:0076803", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "HP:0009380", - "HP:0002086", - "UPHENO:0060026", - "HP:0007360", + "UPHENO:0025945", + "UBERON:0006048", + "UPHENO:0021304", + "HP:0001574", + "UBERON:0001558", + "HP:0012718", "UPHENO:0076766", - "UPHENO:0076702", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0081786", + "UBERON:0010913", + "UBERON:0001043", + "UBERON:0007811", + "HP:0012252", + "HP:0025031", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0021517", + "UPHENO:0081784", + "UPHENO:0000543", + "UPHENO:0075696", + "UBERON:0004908", + "UPHENO:0056212", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UBERON:0002616", + "UPHENO:0002964", + "UBERON:0001032", + "UPHENO:0026181", "HP:0012443", - "UPHENO:0006161", - "HP:0002118", - "UPHENO:0087430", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0088185", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "HP:0002813", + "GO:0071840", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UPHENO:0025211", + "UPHENO:0087548", + "UBERON:0000061", + "UBERON:0035639", + "GO:1901360", "UPHENO:0056333", - "HP:0001511", - "UPHENO:0000543", - "UPHENO:0081784", - "HP:0009823", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0011121", + "UBERON:0000481", "HP:0000957", "HP:0001034", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", - "HP:0002692", - "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0008523", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "UPHENO:0078606", + "HP:0006265", + "HP:0002023", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0087339", + "HP:0034915", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000466", + "HP:0011400", + "HP:0012372", + "HP:0000478", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0005656", + "HP:0001776", + "HP:0000925", + "UBERON:0008784", + "UBERON:0010709", + "UPHENO:0072195", + "HP:0002814", + "HP:0006496", "UPHENO:0050008", - "UPHENO:0025875", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739" + "UPHENO:0003070", + "UPHENO:0081575", + "HP:0011821", + "HP:0009118" ], "has_phenotype_closure_label": [ - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the immune system", + "decreased size of the kidney", + "bone marrow", + "bone cell", "abnormal immune system", - "abnormal bone marrow cell morphology", + "Abnormality of bone marrow cell morphology", + "tissue", + "Bone marrow hypocellularity", + "abnormal immune system morphology", + "snout", "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "abnormal snout morphology", + "increased width of nasal bridge", "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal myelination", + "Abnormality of globe size", + "Aplasia/Hypoplasia affecting the eye", "delayed central nervous system myelination", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", + "abnormal biological_process in central nervous system", + "Abnormal myelination", + "central nervous system myelination", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal hematopoietic system morphology", + "system development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "cellular developmental process", + "nervous system development", + "glial cell differentiation", + "abnormal central nervous system myelination in independent continuant", "absent kidney", + "abnormal kidney morphology", + "Abnormality of the upper urinary tract", + "Abnormality of the kidney", + "excretory system", + "abnormal upper urinary tract", + "abdomen element", + "cavitated compound organ", + "absent anatomical entity in the renal system", "abnormal renal system", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "abnormal renal system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal bone marrow cell", - "Anemia", - "Abnormal myeloid cell morphology", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "abnormal external nose morphology", - "abnormal myelination", + "renal system", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormal myeloid cell morphology", + "hematopoietic system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "abnormal cell morphology", "abnormal erythrocyte morphology", - "Depressed nasal tip", - "abnormal nose", + "abnormal hematopoietic system", + "flat nose tip", "Abnormal nasal tip morphology", + "olfactory organ", + "abnormal size of eyeball of camera-type eye", + "nose tip", + "nose", "abnormal nose morphology", + "Abnormality of the nose", + "flattened anatomical entity in independent continuant", + "Abnormal external nose morphology", + "curvature anatomical entity", + "decreased size of the external male genitalia", + "Abnormal external genitalia", + "external male genitalia", + "male reproductive system", "Abnormality of male external genitalia", - "abnormal external male genitalia", - "abnormal male reproductive organ morphology", - "decreased size of the penis", - "abnormal male reproductive system", - "penis hypoplasia", - "Abnormality of globe size", + "Hypoplasia of penis", + "Abnormal renal morphology", + "abnormal external genitalia", + "abnormal penis", + "External genital hypoplasia", "Abnormal penis morphology", - "Abnormal external genitalia", - "Micropenis", "abnormal male reproductive system morphology", - "abnormal external male genitalia morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "External genital hypoplasia", - "Abnormal palate morphology", - "abnormal midface morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal incomplete closing of the secondary palate", "Craniofacial cleft", + "Abnormal oral cavity morphology", + "anatomical cavity", + "abnormal roof of mouth morphology", + "Orofacial cleft", "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Abnormal hindbrain morphology", - "Aplasia/Hypoplasia of the cerebellum", + "abnormal incomplete closing of the secondary palate", + "abnormal midface morphology", + "Eumetazoa", + "hindbrain", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "cerebellum hypoplasia", + "segmental subdivision of nervous system", + "regional part of brain", + "abnormal external male genitalia", "abnormal anatomical entity morphology in the brain", - "Abnormal cerebellum morphology", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "root", + "Abnormal midface morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "abnormal metencephalon morphology", "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "Wide nasal bridge", - "Abdominal symptom", - "alimentary part of gastrointestinal system atresia", + "Feeding difficulties", + "Esophageal atresia", + "esophagus atresia", + "Chromosomal breakage induced by crosslinking agents", "Neurodevelopmental abnormality", - "Neurodevelopmental delay", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Abnormality of the genital system", - "abnormal female reproductive organ morphology", + "abnormal female reproductive system", + "abnormal kidney", + "abnormal reproductive system", + "internal genitalia", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "Wide nasal bridge", "abnormal internal female genitalia morphology", - "Aplasia of the uterus", - "Abnormality of the genitourinary system", + "female organism", + "bone marrow cell", + "internal female genitalia", + "genitourinary system", + "abnormal uterus", + "aplasia or hypoplasia of uterus", + "reproductive structure", "Abnormal morphology of female internal genitalia", - "abnormal female reproductive system", - "Aplasia/hypoplasia of the uterus", - "absent anatomical entity in the reproductive system", - "abnormal female reproductive system morphology", - "absent uterus", - "absent external ear in the independent continuant", + "Aplasia of the uterus", + "female reproductive system", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "Abnormality of the uterus", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", "Anotia", - "decreased developmental process", + "absent anatomical entity in the head", + "absent external ear in the head", + "absent external ear", + "abnormal embryo development", + "Intrauterine growth retardation", + "abnormal secondary palate morphology", "abnormal developmental process", + "decreased developmental process", + "Hypoplastic male external genitalia", + "anatomical structure development", + "multicellular organism development", "decreased embryo development", - "aplasia or hypoplasia of cerebellum", + "abnormal genitourinary system", "changed developmental process rate", - "Abnormal upper limb bone morphology", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "abnormal long bone morphology", - "abnormal limb long bone morphology", + "changed embryo development rate", + "decreased qualitatively developmental process", + "arm bone", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", + "abnormal erythroid lineage cell morphology", "Abnormal morphology of the radius", + "limb long bone", "absent radius bone in the forelimb", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "Aplasia/hypoplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", "Aplasia/Hypoplasia of the radius", - "Absent radius", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", - "shape nose tip", - "anatomical entity hypoplasia in face", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "bone element hypoplasia in face", - "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", - "abnormal embryo development", - "abnormal mouth morphology", + "embryo development", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "Micrognathia", "abnormal jaw skeleton morphology", - "abnormal head bone morphology", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "dermal bone", + "jaw skeleton", + "facial skeleton", + "mandible", + "immune system", + "facial bone", + "Hypoplastic facial bones", + "abnormal mouth", + "abnormal hematopoietic cell morphology", + "primary subdivision of cranial skeletal system", + "primary subdivision of skull", + "cranial skeletal system", + "facial bone hypoplasia", + "Abnormality of the genital system", + "intramembranous bone", "abnormal facial skeleton morphology", - "abnormal genitourinary system", - "Abnormal foot morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "Growth delay", - "increased anatomical entity length in independent continuant", - "absent external ear", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "abnormal nasal bridge morphology", - "Hypertelorism", - "abnormal upper urinary tract", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormality of the eye", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal immune system morphology", + "abnormal nose", "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "abnormal digit morphology", + "Abnormal appendicular skeleton morphology", + "Cleft palate", + "behavior", + "abnormal manus morphology", + "pectoral appendage skeleton", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal arm", + "skeletal element", + "system", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "bone of dorsum", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "bone element", + "dorsum", + "cervical region", + "organ system subdivision", + "Abnormality of the anus", + "paired limb/fin skeleton", + "vertebral column", + "Abnormality of the eye", + "abnormal pes morphology", "decreased length of anatomical entity in independent continuant", - "abnormal neck morphology", - "Aplasia/Hypoplasia of the ear", - "abnormal forelimb morphology", "Abnormality of the musculoskeletal system", - "Cafe-au-lait spot", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of manual digit 1", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "cervical vertebra", + "membrane bone", + "abnormal cervical vertebra", + "dentary", + "appendage", "abnormal vertebral column", - "fused sacrum hypoplasia", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "skeletal system", + "Abnormality of the vertebral column", + "Macule", + "Opisthokonta", "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "decreased size of the anatomical entity", - "Abnormal midface morphology", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "aplasia or hypoplasia of ear", - "Microphthalmia", - "Abnormal neck morphology", - "abnormal skeletal system", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "Abnormality of the ear", - "changed embryo development rate", - "Intrauterine growth retardation", - "abnormal manual digit 1 morphology", - "abnormal fused sacrum morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "abnormal manual digit morphology in the independent continuant", - "decreased size of the kidney", - "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", + "Abnormal eyelid morphology", + "skeleton", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "Abnormality of limbs", + "paired limb/fin segment", + "orbital region", + "abnormal anatomical entity morphology in the manus", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "upper jaw region", "Abnormality of the ocular adnexa", - "Abnormality of mental function", - "abnormal chromatin organization", + "simple eye", + "cellular metabolic process", + "Atypical behavior", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal orbital region", + "ensheathment of neurons", + "regulation of cellular process", + "ocular adnexa", + "camera-type eye", + "abnormal face", + "acropodium region", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "Renal agenesis", + "abnormal respiratory system", + "secondary palate", + "organism", + "irregular bone", "Chromosome breakage", - "kidney hypoplasia", - "Finger aplasia", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "quality", - "abnormal nitrogen compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", - "phenotype", - "absent external ear in the head", - "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal chromatin organization", "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "subdivision of skeleton", + "endochondral bone", + "Abnormality of the ear", + "eyelid", + "decreased size of the penis", + "Abnormality of the lower limb", + "Growth abnormality", + "axial skeletal system", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormal anus morphology", + "Abnormality of the face", + "manual digit 1", + "autopodial extension", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "negative regulation of biological process", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "Abnormality of multiple cell lineages in the bone marrow", "abnormal programmed DNA elimination by chromosome breakage", - "abnormal snout morphology", - "abnormal face", - "abnormal metabolic process", + "specifically dependent continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "sensory system", + "abnormal nervous system", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", "Abnormal forearm morphology", - "decreased size of the mandible", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "Abnormal skeletal morphology", + "forelimb", + "material anatomical entity", + "abnormal metabolic process", + "Depressed nasal tip", + "Abnormality of mental function", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "abnormal eyelid morphology", + "manus", + "Abnormality of digestive system morphology", + "radius endochondral element", + "abnormal behavior", + "Abnormal cellular phenotype", + "roof of mouth", + "Abnormality of the orbital region", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "thoracic cavity element", + "Abnormal neck morphology", + "negative regulation of gene expression", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "posterior region of body", + "chromatin organization", + "organ part", + "decreased size of the external ear", + "Anemia", + "radius bone", + "Abnormality of the hand", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal tracheobronchial morphology", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "entity", + "Hyperactivity", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "craniocervical region", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "response to stimulus", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "female reproductive organ", + "long bone", + "negative regulation of biosynthetic process", + "material entity", + "pelvic region element", + "abnormal ocular adnexa", + "abnormal location of ear", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", "abnormal anatomical entity", - "Abnormality of the outer ear", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", "continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal DNA metabolic process", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "behavior process", + "decreased size of the mandible", + "absent manual digit", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "aplasia or hypoplasia of ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "Finger aplasia", + "Reduced impulse control", + "abnormal location of external ear", + "forelimb zeugopod bone", + "nervous system", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "ear", + "anatomical entity hypoplasia in face", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "pelvic region of trunk", + "macromolecule metabolic process", + "dermal skeletal element", + "subdivision of organism along main body axis", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "Microtia", + "Renal hypoplasia", + "bone of lower jaw", + "mandible hypoplasia", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", + "aplasia or hypoplasia of external ear", + "pes", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "non-connected functional system", + "abnormal size of anatomical entity", + "kidney hypoplasia", "abnormal craniocervical region morphology", - "abnormal leg", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", "Attention deficit hyperactivity disorder", - "abnormal digestive system", - "abnormal integument", - "Morphological central nervous system abnormality", - "abnormal behavior process", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "abnormal neck", - "Atypical behavior", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormality of the head", - "abnormal anus", - "Abnormality of the female genitalia", + "abnormal leg", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", + "Eukaryota", + "negative regulation of cellular metabolic process", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "absent digit", + "abnormal head bone morphology", + "dorsal part of neck", + "Abnormal pinna morphology", + "external ear", + "Aplasia/Hypoplasia of the ear", + "Abnormality of the skeletal system", + "trachea", + "curvature anatomical entity in independent continuant", + "abnormal limb", + "negative regulation of cellular process", + "Abnormality of head or neck", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "regulation of biological process", + "lateral structure", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "abnormal cellular process", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "anterior region of body", + "aplastic anatomical entity", + "main body axis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "abnormal opening of the anatomical entity", + "dorsal region element", "abnormal primary metabolic process", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal organelle organization", - "Abnormal CNS myelination", - "abnormal development of anatomical entity", + "body proper", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "decreased size of the anatomical entity in the independent continuant", + "protein-DNA complex organization", + "vestibulo-auditory system", + "axon ensheathment in central nervous system", + "eye", + "compound organ", + "cellular process", + "Abnormal digit morphology", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal face morphology", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "cellular component organization", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "neurogenesis", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "lower jaw region", "abnormal digit", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal cellular process", - "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Slanting of the palpebral fissure", - "increased width of nasal bridge", - "Abnormal tracheobronchial morphology", - "abnormal biological_process", - "aplasia or hypoplasia of external ear", - "abnormal cell", - "abnormal limb morphology", - "abnormal reproductive system", - "Abnormality of head or neck", - "entity", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "abnormal behavior", - "Abnormality of digestive system morphology", - "abnormal limb", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", - "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "delayed biological_process in central nervous system", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", - "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Abnormality of the orbital region", - "absent anatomical entity in the multicellular organism", - "decreased size of the eyeball of camera-type eye", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "flat anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "abnormal cervical vertebra", + "thoracic segment of trunk", + "Abnormality of metabolism/homeostasis", + "visual system", "aplastic manual digit 1", + "Abnormal sacrum morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "anatomical conduit", + "abnormal limb morphology", + "paired limb/fin", + "mesoderm-derived structure", + "developmental process", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "autopod region", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Aplasia/hypoplasia of the extremities", + "Aplasia/Hypoplasia of the thumb", + "cell differentiation", + "appendicular skeletal system", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "arm", + "Abnormal erythrocyte morphology", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "abnormal respiratory system", - "Abnormality of limb bone", - "flat anatomical entity in independent continuant", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "forelimb skeleton", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", - "abnormal arm", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "dermatocranium", + "pectoral complex", + "digit", + "abnormal female reproductive system morphology", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "multi-limb segment region", + "agenesis of anatomical entity", "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", + "absent anatomical entity in the multicellular organism", + "external soft tissue zone", + "digit plus metapodial segment", + "abnormally increased number of brain ventricle in the independent continuant", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "skeleton of lower jaw", + "abnormal digit morphology", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "Delayed myelination", + "Abnormality of skin pigmentation", + "shape nose tip", + "Abnormality of globe location", + "limb bone", + "cell development", + "skeleton of manus", + "Hypertelorism", "bone element hypoplasia in independent continuant", - "Delayed CNS myelination", - "Hyperactivity", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal trachea morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal mouth", - "Abnormal ear morphology", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormal manus morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "abnormal limb bone morphology", - "Cerebellar hypoplasia", - "Abnormal metencephalon morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Hypoplastic sacrum", + "abnormal fused sacrum morphology", "Aplasia/Hypoplasia of the sacrum", - "Abnormal sacrum morphology", - "Abnormality of the neck", - "abnormal vertebral column morphology", - "Abnormal external nose morphology", + "bony pelvis", + "Delayed CNS myelination", + "fused sacrum", + "fused sacrum hypoplasia", + "skull", + "limb skeleton subdivision", "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", + "reproductive system", + "sacral region", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "Short attention span", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "pelvic appendage", + "respiratory tube", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", + "abnormal pigmentation in independent continuant", + "abnormal respiratory tube morphology", + "subdivision of tube", + "Abnormality of the cervical spine", + "abnormal digestive system", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "digestive tract", + "oral cavity", + "Morphological abnormality of the gastrointestinal tract", + "Neoplasm", "Tracheoesophageal fistula", - "abnormally increased number of anatomical entity", + "abnormal esophagus morphology", + "pectoral appendage", + "regulation of gene expression", + "respiratory system", + "programmed DNA elimination", + "obsolete cell", + "digestive system", + "penis", + "digestive system element", + "kidney", + "abnormal biological_process", + "Growth delay", + "respiratory airway", + "tube", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormal tracheal morphology", + "thoracic segment organ", + "vertebral element", + "viscus", + "abnormal organelle organization", "abnormal respiratory system morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", "Abnormal esophagus morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "Abnormal tracheal morphology", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", + "Abnormality of the respiratory system", "abnormal tracheobronchial tree morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Delayed myelination", - "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "myelination", "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal ocular adnexa", - "abnormal location of ear", - "Decreased external ear position", - "abnormal anatomical entity topology in independent continuant", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Abnormal location of ears", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Abnormality of the gastrointestinal tract", - "Webbed neck", - "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "increased pigmentation", + "abnormally increased number of anatomical entity", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "abnormal brain morphology", + "organism substance", + "ventricular system of central nervous system", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "abnormal anus morphology", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormal cell morphology", + "lower limb segment", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormality of limb bone", + "central nervous system", + "anatomical point", + "ventricle of nervous system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "abnormal nervous system morphology", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", "abnormal pigmentation", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", + "abnormal anatomical entity topology in independent continuant", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "Decreased external ear position", + "external nose", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal external ear", + "increased biological_process", + "increased size of the anatomical entity in independent continuant", "Abnormality of the integument", + "Neurodevelopmental delay", "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", + "integumental system", + "integument", + "abnormal anatomical entity morphology", + "increased pigmentation", "changed biological_process rate in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "reproductive organ", + "abnormal skull morphology", + "abnormal palpebral fissure", "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "Abnormality of the anus" + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "delayed growth", + "abnormal location of eyeball of camera-type eye", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Low-set ears", + "Abnormal jaw morphology", + "abnormal head", + "jaw region", + "cell", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone" ], "has_phenotype_count": 36, "highlight": null, @@ -2313,936 +3684,1572 @@ "Horseshoe kidney" ], "has_phenotype_closure": [ + "UPHENO:0041226", + "HP:0000085", "UPHENO:0082129", - "UPHENO:0041821", + "UPHENO:0041465", + "UPHENO:0041629", + "UPHENO:0082444", "UPHENO:0049964", "HP:0003254", - "UPHENO:0049671", + "HP:0003213", "UPHENO:0051124", - "UPHENO:0049952", - "HP:0003214", - "HP:0000365", - "UPHENO:0052231", + "GO:0006950", + "GO:0051716", + 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"HP:0011927", + "GO:0050877", + "HP:0012638", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0015025", + "HP:0012758", + "HP:0002011", + "UBERON:0007811", + "UPHENO:0088338", + "UPHENO:0050101", "UPHENO:0075195", "HP:0009121", - "HP:0002977", - "HP:0006501", + "UBERON:0000033", + "UBERON:0001017", + "UBERON:0001032", + "UPHENO:0026181", + "UPHENO:0002964", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0054970", + "UBERON:5102544", + "UPHENO:0080377", + "UBERON:0011137", + "UBERON:0002090", + "GO:0048232", + "UPHENO:0075220", + "UBERON:0001893", + "UBERON:0001890", + "UPHENO:0080200", "UPHENO:0087907", - "UPHENO:0050625", - "HP:0010461", - "HP:0000929", - "HP:0000240", - "HP:0000078", - "HP:0012145", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0026980", - "UPHENO:0075997", - "UPHENO:0020888", - "UPHENO:0086002", + "HP:0006501", + "HP:0000234", + "UPHENO:0085873", + "NCBITaxon:33154", "HP:0000252", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080126", - "UPHENO:0076799", - "HP:0001626", - "UPHENO:0085356", - "UPHENO:0076810", - "HP:0030680", - "UPHENO:0086173", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "HP:0000032", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0000489", + "UBERON:0010323", + "UPHENO:0074575", + "UPHENO:0046707", + "BFO:0000020", + "UBERON:0012354", + "UPHENO:0081566", + "NCBITaxon:1", + "CL:0000408", + "GO:0007283", + "BFO:0000001", + "UPHENO:0002635", + "UBERON:0000948", + "UBERON:0000915", + "UBERON:0005181", + "UPHENO:0080362", + "UBERON:0001009", + "NCBITaxon:6072", "UPHENO:0076776", - "UPHENO:0002219", - "HP:0009823", + "HP:0030680", + "HP:0001626", + "UPHENO:0005016", + "UBERON:0007100", + "GO:0050794", + "UPHENO:0085875", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0033127", + "HP:0007400", + "UPHENO:0080662", + "HP:0001574", + "UPHENO:0082682", + "UPHENO:0074589", + "UPHENO:0080221", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", "HP:0000957", - "HP:0001873", + "HP:0009823", "HP:0001034", - "UPHENO:0076692", - "UPHENO:0002536", - "HP:0001876", - "HP:0002011", - "UPHENO:0074575", - "HP:0012758", - "UPHENO:0009399", - "UPHENO:0025211", - "UPHENO:0050121", + "HP:0004275", + "UBERON:0010314", + "HP:0001873", + "UBERON:0002417", "UPHENO:0074572", - "HP:0001574", - "UPHENO:0080377", - "UPHENO:0054970", - "UPHENO:0085875", - "HP:0011355", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0082682", - "UPHENO:0003811", - "UPHENO:0080221", - "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0087369", - "UPHENO:0085195", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0004710", + "UPHENO:0088162", + "UBERON:0003460", + "HP:0012733", + "UPHENO:0026023", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", "HP:0008373", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", "UPHENO:0066972", - "UPHENO:0050113", + "HP:0000078", + "UPHENO:0082875", + "HP:0011355", "HP:0000104", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", + "UPHENO:0008593", + "UPHENO:0026980", + "GO:1901360", "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0087339", + "UBERON:0000061", + "UPHENO:0025211", + "HP:0025461", + "UPHENO:0009399", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0054261", + "NCBITaxon:131567", + "HP:0001017", + "CL:0000232", + "UBERON:0004375", "HP:0011873", - "UPHENO:0086049", + "UBERON:0001474", + "CL:0000329", + "UPHENO:0087355", + "UPHENO:0085042", + "HP:0012145", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0001690", + "UBERON:0015410", + "UPHENO:0086173", + "UBERON:0011584", + "UPHENO:0084987", + "CL:0000458", + "UPHENO:0026028", + "UPHENO:0084928", "UPHENO:0085302", - "UPHENO:0049985", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0078729", - "UPHENO:0026128", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "CL:0000151", + "UPHENO:0081755", + "UBERON:0002471", + "HP:0008669", + "HP:0001627", + "UPHENO:0049970", + "UPHENO:0086635", + "HP:0000240", + "HP:0000812", + "UBERON:0002386", + "UBERON:0015021", + "HP:0001510", + "UPHENO:0086023", + "UPHENO:0052231", + "HP:0000028", + "HP:0000811", + "UPHENO:0052778", + "GO:0003006", + "HP:0001000", + "UPHENO:0080382", + "GO:0000003", + "UBERON:0011216", + "UBERON:0004175", + "HP:0004322", + "UPHENO:0087973", + "HP:0000035", + "UPHENO:0078452", + "HP:0005918", + "HP:0012243", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "CL:0000015", + "UBERON:0004176", + "UPHENO:0076799", "HP:0000119", - "HP:0000152", - "UPHENO:0005016", - "UPHENO:0005651" + "UPHENO:0081511", + "UPHENO:0086201", + "UPHENO:0086198", + "UPHENO:0079826", + "UBERON:0004122", + "UPHENO:0002595", + "UPHENO:0005597", + "HP:0004742", + "UBERON:0003620", + "HP:0012130", + "CL:0000300", + "UPHENO:0086005", + "UBERON:0004053", + "UBERON:0000473", + "HP:0001172", + "UBERON:0011676", + "HP:0002973", + "HP:0000025", + "GO:0048519", + "UBERON:0006058", + "UPHENO:0085874", + "UPHENO:0085356", + "GO:0019953", + "HP:0001871", + "UBERON:0000079", + "CL:0000586", + "UPHENO:0002332", + "HP:0012874", + "UPHENO:0041821", + "HP:0009825", + "UPHENO:0053298", + "UPHENO:0076941", + "UPHENO:0002764", + "UPHENO:0002597", + "UBERON:0015063", + "UPHENO:0078729", + "UBERON:0000463", + "HP:0001249", + "UBERON:0001968", + "GO:0048609", + "HP:0003953", + "CL:0000413", + "CL:0000039", + "UPHENO:0079872", + "UPHENO:0009341", + "UBERON:0013702", + "UPHENO:0080187", + "UBERON:0010741", + "UPHENO:0069254", + "UBERON:0000949", + "UBERON:0003466", + "UBERON:0010912", + "CL:0000094", + "HP:0040072", + "HP:0001911", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0086956", + "UBERON:0002104", + "HP:0006503", + "GO:0071840", + "HP:0002813", + "HP:0002818", + "HP:0040070", + "UBERON:0000955", + "UBERON:0010703", + "HP:0009142", + "UBERON:0004535", + "UPHENO:0002751", + "UBERON:0002495", + "UPHENO:0005651", + "UPHENO:0076718", + "UBERON:0002405", + "UPHENO:0021561", + "UBERON:0003606", + "GO:0006725", + "UPHENO:0087501", + "UBERON:0001423", + "HP:0004325", + "UPHENO:0031839", + "UPHENO:0046505", + "UBERON:0004381", + "UPHENO:0011498", + "UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411" ], "has_phenotype_closure_label": [ + "U-shaped anatomical entity", "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", + "shape anatomical entity", + "Horseshoe kidney", "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle phase", + "cell cycle process", + "decreased sensory perception of sound", + "abnormal sensory perception", "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", + "abnormal ear", + "ear", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "immaterial anatomical entity", + "Strabismus", + "body part movement", + "anatomical line", + "behavior process", + "behavior", + "concave 3-D shape anatomical entity", + "Abnormality of eye movement", + "abnormal eye movement", + "eye movement", + "response to stimulus", + "abnormal response to stimulus", + "abnormal DNA damage response", + "delayed growth", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", "delayed biological_process", - "Growth delay", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Abnormality of body height", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", + "Hematological neoplasm", + "vasculature", + "abnormality of cardiovascular system physiology", "Bruising susceptibility", - "abnormal blood circulation", "Subcutaneous hemorrhage", + "Abnormal bleeding", + "Generalized abnormality of skin", "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", + "Abnormality of blood circulation", + "vascular system", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "phalanx", + "digitopodium bone", + "skeleton of manual acropodium", + "acropodial skeleton", "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", + "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "manual digitopodium bone", + "Duplication of bones involving the upper extremities", + "manual digit bone", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal phalanx morphology", + "cellular response to stimulus", "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", - "Neurodevelopmental delay", + "Abnormality of DNA repair", + "abnormal organelle organization", + "regulation of biosynthetic process", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cellular process", + "abnormal growth", + "decreased anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "decreased height of the anatomical entity", + "visual system", + "abnormal size of eyeball of camera-type eye", + "abnormal camera-type eye morphology", + "Abnormality of the eye", + "orbital region", + "decreased size of the eyeball of camera-type eye", "Abnormality of the face", + "Microphthalmia", + "sense organ", + "eyeball of camera-type eye", + "abnormal eyeball of camera-type eye", + "Abnormality of the orbital region", + "simple eye", + "abnormal orbital region", "abnormal face morphology", - "U-shaped anatomical entity", "Abnormal eye morphology", - "Abnormality of the orbital region", + "camera-type eye", + "sensory system", "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "Abnormal upper limb bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", - "absent forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "Abnormality of the cell cycle", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "Absent radius", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", + "enucleated reticulocyte", + "abnormally decreased number of reticulocyte", + "Reticulocytopenia", + "decreased multicellular organism mass", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal hematopoietic system morphology", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "Non-obstructive azoospermia", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "axial skeleton plus cranial skeleton", + "Duplication of hand bones", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "system process", + "abnormality of anatomical entity physiology", + "skeleton of manus", + "abnormal manus morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "Aplasia involving forearm bones", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", + "autopodial skeleton", + "paired limb/fin skeleton", + "abnormal digit morphology", + "absent anatomical entity", + "system", + "aplasia or hypoplasia of manual digit 1", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "agenesis of anatomical entity", + "multi-limb segment region", + "endochondral element", + "bone element", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "manual digit plus metapodial segment", + "digit", + "Hyperpigmentation of the skin", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "aplastic anatomical entity", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal number of anatomical enitites of type granulocyte", + "genitourinary system", "decreased qualitatively reproductive process", "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", + "occurrent", + "organ", + "cellular response to stress", + "appendicular skeleton", + "upper limb segment", + "entity", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal upper urinary tract", + "abnormally decreased number of myeloid cell", + "abnormal skeletal system morphology", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "arm", + "endochondral bone", + "subdivision of skeleton", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "appendicular skeletal system", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "shape anatomical entity in independent continuant", "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", + "decreased size of the anatomical entity in the pectoral complex", + "face", "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", + "skeleton", + "male gamete generation", + "Cognitive impairment", + "abnormal male reproductive system", + "paired limb/fin", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Aplasia involving bones of the extremities", + "abnormal limb morphology", + "regulation of metabolic process", + "Decreased body weight", + "autopodial extension", + "manual digit 1", + "abnormal immune system morphology", + "skeletal system", + "motile cell", "Abnormality of limb bone morphology", "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", + "Abnormal appendicular skeleton morphology", + "cardiovascular system", "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digit", + "thoracic segment of trunk", + "acropodium region", + "Intellectual disability", + "bone marrow", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "limb", + "Neoplasm by anatomical site", + "Decreased anatomical entity mass", + "Abnormality of the upper limb", + "cell", + "absent anatomical entity in the renal system", + "negative regulation of cellular process", + "abnormal limb", + "manus", + "cell cycle", + "pectoral complex", + "trunk region element", + "Anemic pallor", + "cellular metabolic process", + "Abnormality of neutrophils", + "abnormal central nervous system morphology", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "Macule", + "organ system subdivision", + "abnormal blood cell", + "erythrocyte", + "sexual reproduction", + "renal system", + "abnormal kidney morphology", + "main body axis", + "decreased spermatogenesis", + "Short thumb", + "Abnormality of the kidney", + "excretory system", + "bone marrow cell", + "circulatory system", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "abnormal myeloid cell morphology", + "increased biological_process", + "Abnormal cerebral morphology", + "abnormal blood circulation", + "arm bone", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal hematopoietic system", + "Renal agenesis", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "gamete generation", "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", + "bone cell", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "thoracic cavity element", "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormality of ear physiology", + "multicellular anatomical structure", "absent anatomical entity in the forelimb", "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", "abnormal arm", + "Atypical behavior", "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "abnormal multicellular organismal reproductive process", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", + "phenotype", + "Abnormal cell morphology", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity topology in independent continuant", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "quality", + "manual digit 1 digitopodial skeleton", + "regulation of gene expression", + "pectoral appendage", + "body proper", + "abnormal phenotype by ontology source", + "absent manual digit", + "Abnormal thumb morphology", + "subdivision of trunk", + "anatomical system", + "material anatomical entity", + "Hypergonadotropic hypogonadism", + "abnormal enucleated reticulocyte morphology", + "nucleate cell", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "continuant", + "abnormal neutrophil", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "hemolymphoid system", + "abnormal anatomical entity", + "Small for gestational age", + "Abnormal forearm morphology", + "abnormal immune system", + "abnormal renal system morphology", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "reproduction", "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "external genitalia", + "renal collecting system", + "Ectopic kidney", + "skeletal element", + "zeugopod", + "subdivision of head", + "appendage girdle complex", + "Renal hypoplasia/aplasia", + "regional part of nervous system", + "abdominal segment element", + "abnormal reproductive system morphology", + "Abnormal conjugate eye movement", + "forelimb bone", + "non-connected functional system", + "DNA damage response", + "lateral structure", + "abnormal vasculature", "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", - "All", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal finger phalanx morphology", + "changed developmental process rate", + "biological regulation", + "Global developmental delay", + "abdominal segment of trunk", + "biological_process", + "myeloid leukocyte", + "entire sense organ system", + "absent radius bone in the independent continuant", + "Abnormal localization of kidney", + "abnormal head morphology", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "cognition", + "appendage", + "root", + "abnormally localised anatomical entity in independent continuant", + "phalanx of manus", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "abnormal gamete generation", + "leukocyte", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "abnormality of nervous system physiology", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", + "Abnormal eye physiology", + "segment of autopod", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "limb endochondral element", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "circulatory system process", + "cavitated compound organ", + "Abnormal leukocyte count", "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Abnormal testis morphology", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", - "continuant", - "Azoospermia", - "Abnormality of brain morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal immune system", - "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "abnormal testis morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology in the brain", + "bone of appendage girdle complex", + "Abnormal finger phalanx morphology", + "pigmentation", "abnormal limb bone", "Abnormal nervous system morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", - "Abnormality of skin pigmentation", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "increased qualitatively biological_process in independent continuant", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "skeleton of manual digitopodium", + "primary circulatory organ", + "manual digit 1 plus metapodial segment", + "abdomen", + "viscus", + "abnormal hematopoietic cell morphology", + "paired limb/fin segment", + "abnormality of camera-type eye physiology", + "immune system", + "abnormal manual digit 1 morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Absent forearm bone", + "Leukemia", "abnormal cell morphology", "abnormal nervous system morphology", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "blood cell", + "Abnormality of the genitourinary system", + "forebrain", + "Abnormality of the cardiovascular system", + "organism", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "Abnormal granulocyte count", + "eye", + "compound organ", + "limb long bone", + "zeugopodial skeleton", + "Abnormal granulocyte morphology", + "neutrophil", + "manual digit 1 phalanx", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "abnormal head", + "abnormal anatomical entity morphology in the pectoral complex", + "anatomical cluster", + "Aplasia/Hypoplasia affecting the eye", + "abnormal developmental process involved in reproduction", + "Functional abnormality of male internal genitalia", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "skeleton of pectoral complex", + "abnormally localised anatomical entity", + "hematopoietic cell", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "manual digit 1 phalanx endochondral element", + "tissue", + "absent anatomical entity in the semen", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", + "abnormal external genitalia", + "Abnormal axial skeleton morphology", + "non-material anatomical boundary", + "erythroid lineage cell", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "multicellular organismal reproductive process", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "Abnormality of brain morphology", + "nervous system", + "forelimb zeugopod bone", + "limb skeleton subdivision", + "skull", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "absent sperm in the semen", + "bone of pectoral complex", + "decreased length of anatomical entity", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "decreased length of manual digit", + "abnormal craniocervical region morphology", + "immaterial entity", "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "spermatogenesis", + "Abnormality of head or neck", "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of the head", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", + "abnormal reproductive system", + "Abnormality of the urinary system", + "Morphological central nervous system abnormality", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "craniocervical region", + "Growth abnormality", + "axial skeletal system", + "abnormal skull morphology", + "reproductive organ", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "postcranial axial skeleton", + "Abnormal renal collecting system morphology", + "decreased qualitatively developmental process", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "telencephalon", + "Decreased head circumference", + "abnormal telencephalon morphology", + "heart plus pericardium", + "Cryptorchidism", + "Abnormality of cardiovascular system morphology", + "circulatory organ", + "thoracic segment organ", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "abnormal long bone morphology", "abnormal heart morphology", - "delayed growth", + "aplasia or hypoplasia of radius bone", + "Abnormal reproductive system morphology", "abnormal cardiovascular system", + "changed biological_process rate", + "increased biological_process in skin of body", + "absent germ cell", + "Abnormality of skin morphology", "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", + "Neurodevelopmental delay", "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", + "Abnormality of bone marrow cell morphology", + "integumental system", + "integument", + "absent radius bone in the forelimb", + "abnormal anatomical entity morphology", + "abnormally decreased number of anatomical entity in the independent continuant", "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Localized skin lesion", - "abnormal platelet", + "Neutropenia", + "reproductive structure", + "abnormal integument", + "Growth delay", + "kidney", + "abnormal biological_process", "Cafe-au-lait spot", - "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", + "primary metabolic process", + "forelimb endochondral element", + "Abnormality of the skin", + "germ line cell", "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", + "Abnormal forearm bone morphology", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", + "organic substance metabolic process", + "heart", + "Abnormality of the head", + "abnormal pigmentation", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "Pancytopenia", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", + "Abnormal heart morphology", "abnormality of reproductive system physiology", - "Hypogonadism", + "limb segment", + "absent sperm", + "Abnormality of reproductive system physiology", + "gamete", + "Puberty and gonadal disorders", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal bone marrow cell morphology", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", + "absent kidney", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "manus bone", + "radius bone", + "Abnormality of the hand", "Anemia", + "abnormal shape of continuant", + "trunk", "abnormal bone marrow cell", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Generalized abnormality of skin", + "oxygen accumulating cell", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "cellular organisms", + "Abnormal neutrophil count", + "obsolete multicellular organism reproduction", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "Prolonged G2 phase of cell cycle", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal cellular process", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "anucleate cell", + "abnormal male reproductive system morphology", + "manual digit", + "abnormal multicellular organismal reproductive process", + "abnormal granulocyte morphology", + "Azoospermia", + "Abnormal testis morphology", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "abnormal external male genitalia", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "reproductive process", + "shape kidney", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "developmental process", + "disconnected anatomical group", + "abnormal cell", + "male reproductive organ", + "absent anatomical entity in the independent continuant", + "abnormally localised testis", + "absent gamete", + "organism substance", + "interphase", + "semen", + "Abnormality of male external genitalia", + "anatomical entity", + "decreased qualitatively biological_process", + "platelet", + "absent sperm in the independent continuant", + "abnormal manual digit morphology in the manus", + "Abnormal internal genitalia", + "developmental process involved in reproduction", + "abnormal number of anatomical enitites of type sperm", + "male reproductive system", + "germ cell", + "external male genitalia", + "testis", + "Abnormal external genitalia", + "abnormal gamete", + "organelle organization", + "postcranial axial skeletal system", + "abnormal spermatogenesis", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "male organism", + "male germ cell", + "abnormal testis morphology", + "forelimb zeugopod", + "internal genitalia", "abnormal internal genitalia", - "changed biological_process rate", - "increased biological_process in skin of body", - "absent germ cell" + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "sensory perception", + "abnormal developmental process", + "haploid cell", + "sperm", + "Absent radius", + "abnormal radius bone morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "aplastic forelimb zeugopod bone", + "absent forelimb zeugopod bone", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "skin of body", + "Abnormal upper limb bone morphology", + "eukaryotic cell", + "abnormal limb long bone morphology", + "Aplasia involving bones of the upper limbs", + "Pallor", + "abnormal bone of pectoral complex morphology", + "absent radius bone", + "abnormal behavior", + "radius endochondral element", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "forelimb zeugopod skeleton", + "abnormal size of skull", + "forelimb long bone", + "anterior region of body", + "decreased length of manual digit 1", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "skeleton of digitopodium", + "Short digit", + "Short finger", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "decreased length of digit", + "reticulocyte" ], "has_phenotype_count": 32, "highlight": null, @@ -3332,6 +5339,7 @@ "HP:0000582", "HP:0010469", "HP:0000377", + "HP:0002863", "HP:0002575", "HP:0000483", "HP:0000238", @@ -3352,14 +5360,13 @@ "HP:0002650", "HP:0000252", "HP:0001882", - "HP:0002863", + "HP:0001510", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", @@ -3440,6 +5447,7 @@ "Upslanted palpebral fissure", "Absent testis", "Abnormal pinna morphology", + "Myelodysplasia", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", @@ -3460,14 +5468,13 @@ "Scoliosis", "Microcephaly", "Leukopenia", - "Myelodysplasia", + "Growth delay", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", @@ -3545,3483 +5552,5793 @@ "Abnormality of skin pigmentation" ], "has_phenotype_closure": [ - "HP:0001053", - "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0042775", - "UPHENO:0077885", - "UPHENO:0086173", + "HP:0001010", + "UPHENO:0085344", + "CL:0000233", + "CL:0000457", + "UPHENO:0085189", "UPHENO:0086049", - "UPHENO:0085070", + "CL:0000458", + "HP:0001873", "UPHENO:0084987", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0001939", + "UPHENO:0086173", + "HP:0011875", + "UPHENO:0085070", "HP:0003220", + "GO:0008152", + "HP:0001939", + "HP:0000002", + "UPHENO:0075159", "UPHENO:0080351", - "UPHENO:0081424", - 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"UBERON:0002384", + "UBERON:0012141", + "UPHENO:0085371", + "UPHENO:0076723", "UPHENO:0084766", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0080201", + "UBERON:0003101", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "HP:0008373", "HP:0005927", - "UPHENO:0050622", - "HP:0040068", - "UPHENO:0002708", - "HP:0012638", - "HP:0001780", - "HP:0006101", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0076735", - "UPHENO:0078081", - "UPHENO:0080585", "UPHENO:0078179", - "HP:0004348", - "HP:0001551", - "UPHENO:0086792", - "UPHENO:0078288", - "UPHENO:0076786", - "UPHENO:0078215", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - "HP:0004209", + "UPHENO:0082671", "UPHENO:0082834", - "HP:0004349", - "UPHENO:0084511", - "UPHENO:0086144", + "HP:0004209", + "UPHENO:0087203", + "HP:0011849", + "HP:0010469", + "UBERON:0008202", + "UPHENO:0082835", + "UPHENO:0080369", + "UBERON:0012357", + "UPHENO:0084842", + "HP:0009824", "HP:0009179", - "UPHENO:0076704", - "HP:0004207", - "HP:0040019" - ], - "has_phenotype_closure_label": [ - "Hypopigmented skin patches", - "Hypopigmentation of the skin", - "decreased pigmentation in skin of body", - "decreased qualitatively pigmentation", - "decreased pigmentation in multicellular organism", - "abnormal blood cell", - "abnormal blood cell morphology", - "Thrombocytopenia", + "HP:0011446", + "HP:0030084", + "UBERON:0000033", + "UBERON:0006052", + "UBERON:0016491", + "HP:0000377", + "HP:0004097", + "HP:0001770", + "UPHENO:0086143", + "UPHENO:0076736", + "UBERON:0019221", + "UBERON:5003625", + "UPHENO:0084829", + "HP:0000864", + "UPHENO:0086150", + "HP:0200007", + "HP:0009821", + "UPHENO:0081790", + "UBERON:0012180", + "UPHENO:0068971", + "UPHENO:0012274", + "UPHENO:0053580", + "HP:0040019", + "UPHENO:0069293", + "UPHENO:0012541", + "UPHENO:0087974", + "UBERON:0004770", + "UBERON:0001271", + "HP:0000504", + "UPHENO:0002813", + "UPHENO:0087980", + "UBERON:0001457", + "UBERON:0008907", + "UPHENO:0079871", + "UPHENO:0060026", + "HP:0001367", + "UPHENO:0002700", + "UBERON:0008114", + "UBERON:0007828", + "UBERON:0003840", + "UPHENO:0075945", + "UPHENO:0001001", + "UPHENO:0087892", + "UBERON:0010425", + "UBERON:0007823", + "UBERON:0001464", + "UPHENO:0087602", + "UBERON:0000982", + "UBERON:0005913", + "HP:0002644", + "UBERON:0003828", + "UPHENO:0086088", + "HP:0001903", + "UPHENO:0076767", + "UBERON:0003463", + "UBERON:0001712", + "UBERON:0001950", + "UBERON:0003826", + "UBERON:5002389", + "UPHENO:0087558", + "UBERON:0000473", + "UPHENO:0020967", + "GO:0002009", + "HP:0045005", + "HP:0000271", + "UBERON:0005893", + "UBERON:0002544", + "UPHENO:0087585", + "UBERON:0000060", + "UPHENO:0076695", + "HP:0003468", + "UPHENO:0076810", + "UBERON:0002529", + "UBERON:0004381", + "UPHENO:0081436", + "UPHENO:0087858", + "UBERON:0004375", + "GO:0009792", + "UBERON:5101463", + "GO:0007399", + "GO:0021915", + "UBERON:0005897", + "UBERON:0005174", + "GO:0048729", + "GO:0009888", + "UBERON:0001558", + "GO:0048731", + "UPHENO:0075148", + "UBERON:0004249", + "GO:0035295", + "UBERON:0004908", + "UBERON:0006598", + "UBERON:0002240", + "HP:0002143", + "HP:0000119", + "GO:0043009", + "GO:0014020", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "UPHENO:0084729", + "UBERON:0016880", + "GO:0001503", + "UBERON:0002412", + "UPHENO:0088123", + "HP:0007874", + "UPHENO:0002992", + "HP:0001710", + "UPHENO:0087363", + "HP:0000364", + "GO:0009790", + "UBERON:0002050", + "UBERON:0000011", + "UPHENO:0087121", + "HP:0002251", + "UPHENO:0002941", + "UBERON:0013768", + "UPHENO:0084771", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "HP:0012331", + "HP:0001000", + "UBERON:0012430", + "UPHENO:0021045", + "UPHENO:0020258", + "UBERON:0002005", + "HP:0410015", + "UBERON:0002410", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "UPHENO:0056072", + "HP:0001549", + "UPHENO:0019477", + "UBERON:0005401", + "UBERON:0011300", + "UPHENO:0075655", + "UBERON:0011164", + "UBERON:0003457", + "UPHENO:0087530" + ], + "has_phenotype_closure_label": [ + "decreased biological_process in skin of body", + "decreased qualitatively pigmentation in independent continuant", + "decreased biological_process in independent continuant", + "decreased biological_process in multicellular organism", + "Hypopigmentation of the skin", + "decreased qualitatively biological_process in independent continuant", + "anucleate cell", + "secretory cell", + "abnormal platelet", + "abnormally decreased number of myeloid cell", + "abnormally decreased number of platelet", + "abnormal blood cell", + "Thrombocytopenia", "Abnormal platelet count", - "abnormal platelet morphology", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Abnormal cellular physiology", + "Abnormality of chromosome stability", + "obsolete cell", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", "Abnormality of body height", - "Abnormal cell morphology", - "Sideroblastic anemia", + "oxygen accumulating cell", + "erythrocyte differentiation", "abnormal myeloid cell morphology", + "Anemia of inadequate production", + "Sideroblastic anemia", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", "Abnormal myeloid cell morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte", + "myeloid cell", + "blood cell", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "cellular developmental process", "abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", + "myeloid cell differentiation", + "hemopoiesis", + "homeostatic process", + "immune system process", + "cellular process", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "Abnormal size of the palpebral fissures", "decreased length of palpebral fissure", + "abnormality of immune system physiology", "Abnormality of immune system physiology", - "Unusual infection", - "Recurrent urinary tract infections", + "Cryptorchidism", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised testis", "Abnormal ureter morphology", - "abnormal ureter", - "abnormality of renal system physiology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", - "Puberty and gonadal disorders", + "abnormal ureter morphology", + "Abnormality of the ureter", + "ureter", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", "abnormally decreased functionality of the gonad", - "Orofacial cleft", - "abnormality of anatomical entity height", + "Craniofacial cleft", + "Cleft palate", "High palate", "increased height of anatomical entity in independent continuant", - "abnormal size of head", + "increased height of the anatomical entity", "increased size of the head", - "Dolichocephaly", - "abnormal skin of head morphology", + "Increased head circumference", + "skin of face", + "upper eyelid", + "head or neck skin", + "Epicanthus", "abnormal skin of face morphology", - "abnormal forehead morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", + "skin of head", + "increased length of the epicanthal fold", + "zone of skin", + "abnormal asymmetry of anatomical entity", + "sloped anatomical entity", + "abnormal shape of forehead", + "abnormal mandible morphology", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "facial skeleton", + "mandible", + "facial bone", "decreased size of the mandible", - "anatomical entity hypoplasia in face", + "Hypoplastic facial bones", "facial bone hypoplasia", - "mandible hypoplasia", - "abnormally localised anatomical entity", - "Micrognathia", + "bone of lower jaw", "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "aplasia or hypoplasia of skull", - "Facial asymmetry", - "abnormal sensory perception of sound", + "Abnormal mandible morphology", + "anatomical entity hypoplasia in face", + "lower jaw region", + "bone element hypoplasia in face", + "mandible hypoplasia", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", + "Hearing abnormality", + "decreased qualitatively sensory perception of sound", + "sloped forehead", + "sensory perception of mechanical stimulus", + "abnormal sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "Strabismus", + "Abnormal conjugate eye movement", + "abnormal sensory perception", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", "abnormal size of eyeball of camera-type eye", - "abnormal vestibulo-ocular reflex", - "abnormal internal ear", + "Abnormality of globe size", + "abnormal physiologic nystagmus", + "cranial nerve related reflex", "abnormality of ear physiology", - "Cryptorchidism", - "Nystagmus", + "Abnormal vestibulo-ocular reflex", + "Abnormality of eye movement", + "abnormal eye movement", + "abnormal vestibulo-ocular reflex", + "eye movement", "Abnormal vestibular function", - "Abnormality of the uterus", - "abnormal uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "bicornuate anatomical entity", "abnormal female reproductive system", "shape uterus", - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", + "oviduct", + "abnormal internal female genitalia morphology", + "female organism", + "Abnormality of the female genitalia", + "internal female genitalia", + "abnormal uterus", + "Abnormality of the uterus", + "uterus", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manus bone", + "skeleton of manual acropodium", + "abnormal manual digit 1 morphology", + "abnormal visual perception", "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", + "Triphalangeal thumb", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1", + "abnormal anatomical entity morphology in the skeleton of manus", + "Bicornuate uterus", + "abnormal behavior", "Hyperreflexia", + "abnormal response to external stimulus", + "Abnormality of movement", + "body part movement", "increased qualitatively response to stimulus", - "increased reflex", - "abnormal musculoskeletal movement", - "abnormal behavior", - "decreased embryo development", + "reflex", + "multicellular organismal movement", + "abnormal voluntary musculoskeletal movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "Recurrent urinary tract infections", + "involuntary movement behavior", "abnormal embryo development", - "Intrauterine growth retardation", - "shape forehead", + "decreased embryo development", + "herniated anatomical entity", + "Abnormality of the abdominal wall", + "abnormal umbilicus morphology", + "umbilicus", + "connective tissue", + "abnormal incomplete closing of the abdominal wall", "herniated abdominal wall", + "Hernia of the abdominal wall", "Abnormal umbilicus morphology", "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Hernia", + "interatrial septum", "abnormal interatrial septum morphology", - "Tetralogy of Fallot", - "Overriding aorta", - "Ventricular hypertrophy", + "abnormal cardiac atrium morphology", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "hypertrophic heart right ventricle", + "interventricular septum", + "metabolic process", "Abnormal cardiac septum morphology", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", - "abnormal interventricular septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "abnormally increased volume of anatomical entity", "abnormal cardiac septum morphology", - "Right ventricular hypertrophy", - "abnormal heart right ventricle morphology", - "abnormally decreased functionality of the anatomical entity", - "abnormally decreased functionality of the myocardium", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal eye movement", - "abnormal artery morphology in the independent continuant", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "cardiac septum", + "abnormally increased volume of anatomical entity", + "hypertrophic cardiac ventricle", + "Abnormal ventricular septum morphology", + "Global developmental delay", + "reflexive behavior", + "Right ventricular hypertrophy", + "heart layer", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "abnormal myocardium morphology", + "vasculature of organ", + "abnormal female reproductive organ morphology", + "abnormally decreased functionality of the anatomical entity", + "vasculature of trunk", + "heart blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal coronary vessel morphology", + "abnormal incomplete closing of the ductus arteriosus", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "cardiac valve", + "internal ear", + "heart left ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "Abnormal heart valve morphology", "abnormal cardiac valve morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", "abnormal aortic valve morphology", - "abnormal outflow part of left ventricle morphology", + "heart", + "abnormal semi-lunar valve morphology", + "abnormal heart morphology", "abnormal anatomical entity morphology in the heart", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "bone of jaw", + "aortic system", "Abnormal aortic morphology", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "flat longitudinal arch of pes", - "decreased qualitatively sensory perception of mechanical stimulus", + "aorta", + "longitudinal arch of pes", "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "flat anatomical entity in independent continuant", "flat anatomical entity", - "abnormal cerebral cortex morphology", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "abnormal vault of skull", - "abnormally protruding anatomical entity", - "abnormal shape of frontal cortex", - "Abnormal calvaria morphology", - "Abnormal cerebral cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", - "Abnormal shape of the frontal region", - "abnormal size of heart right ventricle", - "Meckel diverticulum", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "abnormal ganglion morphology", - "abnormal incomplete closing of the arch of centrum of vertebra", - "Neural tube defect", - "abnormal shape of forehead", - "abnormal tube formation", - "abnormal vertebral column morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal vertebral morphology", - "Hernia", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal opening of the anatomical entity", - "Abnormality of femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal size of palpebral fissure", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormal femur morphology", - "Lower extremity joint dislocation", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "anatomical entity dislocation", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Joint dislocation", - "abnormal synovial joint morphology", - "Abnormal joint morphology", - "Sloping forehead", - "decreased size of the ulna", - "decreased length of anatomical entity in independent continuant", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "decreased length of forelimb zeugopod bone", + "flattened anatomical entity in independent continuant", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "neurocranium", + "abnormal head bone morphology", + "abnormal forehead", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "lower urinary tract", + "Abnormality of globe location", + "pelvic region of trunk", + "myeloid cell homeostasis", + "glans penis", + "abnormal posterior nasal aperture morphology", + "abnormal internal naris", + "material anatomical entity", + "cranial skeletal system", + "posterior nasal aperture", "decreased size of the anatomical entity in the pectoral complex", - "Hypoplasia of the ulna", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", + "Abnormal skull morphology", + "anus", + "abnormal nose", + "abnormal skull morphology", + "anus atresia", + "reproductive organ", + "Short long bone", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Cataract", + "subdivision of digestive tract", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Weight loss", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal anus", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "neural tube formation", + "abnormal common carotid artery plus branches morphology", + "Abnormal anus morphology", + "abnormal anatomical entity mass density", + "outflow tract", + "germ cell", + "arterial system", + "Decreased bone element mass density", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "anterior uvea", + "vestibulo-auditory system", "Aplasia/Hypoplasia affecting the uvea", - "Abnormal skeletal morphology", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "changed biological_process rate in independent continuant", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal iris morphology", - "abnormal penis", - "Microcephaly", + "transparent eye structure", + "system", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", + "Abnormal right ventricle morphology", + "Clinodactyly", + "Eumetazoa", + "Eukaryota", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "forelimb long bone", + "abnormal size of skull", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "skeleton of limb", + "postcranial axial skeletal system", + "Clubbing of toes", + "drooping eyelid", + "Dolichocephaly", + "common carotid artery plus branches", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "root", + "bone element", + "Ptosis", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "limb skeleton subdivision", + "Abnormality of the choanae", + "Abnormal cell morphology", + "Abnormal palate morphology", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", "Abnormality of the musculoskeletal system", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal voluntary movement behavior", + "Microcephaly", "Abnormal forearm bone morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", - "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal respiratory system", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "abnormal embryo morphology", - "Abnormal venous morphology", - "abnormal blood vessel morphology", - "abnormal vascular system morphology", - "Ventriculomegaly", - "sloped anatomical entity", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "limb segment", "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", - "Neurodevelopmental abnormality", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", - "abnormal central nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", - "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormality of brain morphology", + "absent sperm", + "Atrial septal defect", + "drooping anatomical entity", + "Abnormal uvea morphology", "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", - "abnormal brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "shape cornea", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormal small intestine morphology", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", + "abnormal forelimb zeugopod morphology", + "Abnormal morphology of ulna", + "skeletal element", + "zeugopod", + "Aplasia/Hypoplasia of the iris", + "mouth", + "paired limb/fin", "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "abnormal anatomical entity", - "abnormal artery morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal forearm morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", - "abnormality of anatomical entity mass", - "Ventricular septal defect", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", - "abnormal cornea, asymmetrically curved", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "Abnormality of limbs", + "Abnormal calvaria morphology", + "Anal atresia", + "abnormally formed anterior chamber of eyeball", + "anatomical conduit", + "septum", "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "abnormal vein morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Decreased body weight", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", + "abnormal digestive system morphology", + "endochondral bone", + "subdivision of skeleton", + "Abnormal forebrain morphology", + "appendage girdle complex", + "subdivision of head", + "Abnormality of limbs", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", "Abnormal long bone morphology", "absent sperm in the semen", - "Abnormal eye physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal internal genitalia", - "Abnormal tracheobronchial morphology", - "abnormal myocardium morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Recurrent infections", - "asymmetrically curved cornea", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "Abnormal vascular morphology", + "vasculature", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", + "abnormal blood vessel morphology", + "Abnormal venous morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "venous blood vessel", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "abnormal liver", + "embryonic morphogenesis", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "abnormal vasculature", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "olfactory system", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "cardiovascular system", + "blood vasculature", + "blood vessel", + "penis", + "Orofacial cleft", + "digestive system element", + "Abnormality of body weight", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "abnormal artery morphology in the independent continuant", + "abnormal cranium morphology", + "Abnormality iris morphology", + "abnormal penis morphology", + "organism", + "secondary palate", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", + "abnormal cardiovascular system morphology", + "Abnormality of mental function", + "nervous system process", + "Neurodevelopmental abnormality", + "cerebrospinal fluid", + "forelimb bone", + "Abnormal uvula morphology", + "abnormal cardiac ventricle morphology", + "endochondral element", + "anatomical entity hypoplasia", + "abnormal central nervous system morphology", + "abnormal brain ventricle morphology", + "skeletal joint", + "decreased length of forelimb zeugopod bone", + "Abnormality of the nose", + "developmental process involved in reproduction", + "organ system subdivision", + "abnormal nervous system morphology", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "pedal digit digitopodial skeleton", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "Abnormal cardiovascular system physiology", + "Abnormal cerebrospinal fluid morphology", + "forelimb zeugopod bone", + "Abnormal shape of the frontal region", + "central nervous system", "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "abnormal nervous system", + "abnormal lens of camera-type eye morphology", + "Hydrocephalus", + "abnormal anus morphology", + "abnormally increased number of brain ventricle in the independent continuant", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "ventricular system of central nervous system", "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", - "abnormal cell", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "abnormal response to stimulus", + "abnormal brain morphology", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "decreased biological_process", + "abnormal neocortex morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "sensory perception", + "abnormality of anatomical entity mass", + "Abnormality of corneal shape", + "segment of autopod", + "Abnormal anterior eye segment morphology", + "abnormal eyeball of camera-type eye", + "cerebral hemisphere", + "abnormal cornea, asymmetrically curved", + "Abnormal cellular immune system morphology", + "endocrine gland", + "nose", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "Abnormal ear physiology", + "ecto-epithelium", "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal digestive system", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormal visual perception", - "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "ocular surface region", + "abnormal internal genitalia", + "Finger clinodactyly", + "epithelial tube", + "curvature anatomical entity", + "vessel", + "lateral structure", + "pulmonary valve", + "cellular organisms", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "absent sperm in the independent continuant", + "pelvic region element", + "All", + "Abnormal bone structure", + "Abnormality of male external genitalia", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "olfactory organ", + "Abnormality of the gastrointestinal tract", + "abnormal number of anatomical enitites of type anatomical entity", "absent gamete", - "abnormal phenotype by ontology source", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal form of the vertebral bodies", - "entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", + "iris", + "naris", "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal spatial pattern of anatomical entity", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "abnormal cornea morphology", - "continuant", - "abnormal craniocervical region morphology", - "Slanting of the palpebral fissure", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormally increased number of anatomical entity in the independent continuant", + "male gamete generation", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "arm", + "abnormal bone of pelvic complex morphology", + "vertebra", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "gonad", + "abnormal ulna morphology", + "Decreased anatomical entity mass density", + "ganglion", + "sensory system", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "upper limb segment", + "biological_process", + "abnormal reproductive process", + "opaque lens of camera-type eye", + "abnormal shape of external ear", + "abnormal shape of continuant", + "camera-type eye", + "Hypertrophic cardiomyopathy", + "abnormal number of anatomical enitites of type cell", + "neural tube development", + "external genitalia", + "abnormal anatomical entity morphology in the brain", + "abnormal male reproductive system morphology", + "mesoderm-derived structure", + "autopod bone", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "intramembranous bone", + "pelvic complex", + "anatomical line between pupils", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "Abnormality of the head", + "abnormal blood cell morphology", + "abnormal cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", + "phenotype by ontology source", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "abnormal amniotic fluid", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "increased biological_process", + "transudate", + "Abnormal joint morphology", + "anterior region of body", "abnormal head", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", + "artery", + "jaw region", + "epithelium development", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "reproductive structure", + "tunica fibrosa of eyeball", + "abnormal limb bone morphology", + "anatomical system", + "upper digestive tract", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "testis", + "non-connected functional system", + "abnormal growth", + "abnormal craniocervical region morphology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "appendage girdle region", + "platelet", "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal reproductive system morphology", + "hip", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal orbital region", + "simple eye", "abnormal male reproductive organ morphology", - "decreased developmental process", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", + "occurrent", + "pedal digit phalanx endochondral element", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "abnormality of male reproductive system physiology", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal face morphology", - "increased height of the anatomical entity", - "abnormal upper urinary tract", - "Limb undergrowth", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Overriding aorta", + "trachea", + "Abnormality of the skeletal system", + "Deviation of finger", + "organ", + "pedal digit plus metapodial segment", + "reproduction", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal manual digit morphology in the manus", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal eyelid morphology", + "manus", + "exocrine system", + "Abnormality of the genitourinary system", + "absent germ cell", + "Abnormal heart valve physiology", + "changed biological_process rate", "Abnormality of the outer ear", "abnormal gamete", - "abnormality of camera-type eye physiology", - "abnormal gamete generation", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", + "quality", + "Slanting of the palpebral fissure", + "ectoderm-derived structure", + "valve", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "palpebral fissure", + "abnormal head morphology", "decreased spermatogenesis", - "abnormal kidney morphology", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "Hypertrophic cardiomyopathy", + "digestive tract", + "abnormal shape of frontal cortex", + "abnormal great vessel of heart morphology", + "frontal cortex", + "Displacement of the urethral meatus", + "nervous system", + "abnormal face", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "vault of skull", + "skeleton of pectoral complex", + "specifically dependent continuant", + "organism substance", + "female reproductive organ", + "ocular adnexa", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "subdivision of organism along main body axis", + "cranium", + "abnormal ileum morphology", + "neural tube closure", + "curved anatomical entity", + "internal male genitalia", + "digestive system", + "decreased length of long bone", + "anatomical entity", + "musculoskeletal movement", + "decreased qualitatively biological_process", + "abnormal ocular adnexa", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", + "Decreased anatomical entity mass", + "entity", + "Abnormal form of the vertebral bodies", + "Hypogonadism", + "arm bone", + "urethral opening", + "abnormal spinal cord morphology", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "multicellular organismal reproductive process", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "forelimb endochondral element", + "abnormal duodenum morphology", + "outflow tract of ventricle", + "Abnormality of the skin", + "abnormal leukocyte morphology", + "clavate digit", + "shape eyelid", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "material entity", + "increased reflex", + "long bone", + "Abnormality of the orbital region", + "roof of mouth", + "Microphthalmia", "absent anatomical entity in the multicellular organism", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Abnormal cornea morphology", - "Clubbing of toes", - "abnormal spermatogenesis", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", + "abnormal anterior uvea morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "postcranial axial skeleton", + "Decreased body weight", + "autopodial extension", + "forehead", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", "Abnormal penis morphology", - "abnormal ocular adnexa", - "Non-obstructive azoospermia", - "Abnormal cardiac atrium morphology", "Intellectual disability", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormal shape of continuant", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", + "eyelid", + "Abnormality of the ear", + "abnormally decreased number of leukocyte", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Absent testis", - "Abnormal male reproductive system physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "changed developmental process rate", - "abnormal genitourinary system", - "abnormal vasculature", - "Morphological abnormality of the gastrointestinal tract", + "abnormal anatomical entity morphology", + "hindlimb joint", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal camera-type eye morphology", + "Abnormal eyelid morphology", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "abnormal hematopoietic system", + "asymmetrically curved cornea", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "abnormal number of anatomical enitites of type sperm", + "external male genitalia", + "Abnormal external genitalia", + "Abnormality of the peripheral nervous system", + "trunk region element", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "organism subdivision", + "abnormality of camera-type eye physiology", + "endocrine system", + "immune system", + "Abnormality of the curvature of the cornea", + "abnormal gamete generation", + "leukocyte", + "Abnormal facial shape", + "tube morphogenesis", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "reproductive system", + "opaque anatomical entity", + "system process", + "male gamete", + "visual system", + "lower respiratory tract", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", + "Cognitive impairment", + "organ subunit", + "abnormal male reproductive system", + "abnormal mouth morphology", + "abnormal bone element mass density", + "main body axis", + "obsolete multicellular organism reproduction", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "upper jaw region", + "gamete", + "tube formation", + "Abnormality of reproductive system physiology", + "process", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "limb", + "heart right ventricle", + "lens of camera-type eye", + "increased size of the anatomical entity", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "abnormal external male genitalia", "abnormal tracheobronchial tree morphology", - "Anal atresia", - "abnormal small intestine", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Abnormality of the anus", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormal pulmonary valve physiology", + "internal naris", + "sperm", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal postcranial axial skeleton morphology", + "Opisthokonta", + "Abnormality of the ocular adnexa", + "Abnormality of digestive system morphology", + "ear", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "orbital region", + "Abnormal pinna morphology", + "Reduced bone mineral density", + "Myelodysplasia", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "physiologic nystagmus", + "hemolymphoid system", + "Nystagmus", + "esophagus", + "Lower extremity joint dislocation", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "abnormal artery morphology", + "respiratory tract", + "germ line cell", + "bone element hypoplasia in independent continuant", + "respiratory tube", + "glans", "abnormality of multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", - "Decreased anatomical entity mass", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "opaque anatomical entity", + "subdivision of tube", "Abnormal lens morphology", - "drooping eyelid", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Abnormal axial skeleton morphology", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "abnormal internal naris", - "Choanal atresia", - "posterior nasal aperture atresia", - "Short long bone", - "anus atresia", - "abnormal palpebral fissure", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "Abnormality of the choanae", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", - "Abnormality of the orbital region", - "abnormal nerve", - "Abnormality of the lower urinary tract", - "Displacement of the urethral meatus", - "abnormal urethra", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "abnormal digestive system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "abnormal respiratory system", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal incomplete closing of the anatomical entity", + "venous system", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Abnormal morphology of the great vessels", + "pectoral complex", + "abnormality of male reproductive system physiology", + "craniocervical region", + "Abnormality of cardiovascular system morphology", + "abnormal developmental process", + "gland", + "Abnormal cornea morphology", + "abnormal secondary palate morphology", + "tube", + "thoracic segment of trunk", + "pes bone", + "viscus", + "vertebral element", + "respiratory airway", + "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", + "Growth delay", + "kidney", + "Abnormality of the respiratory system", + "girdle skeleton", + "Hip dislocation", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "cornea", + "abdominal wall", + "3-D shape anatomical entity", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "renal system", + "abnormally fused anatomical entity and manual digit", "abnormal renal system", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "decreased pigmentation in independent continuant", + "Abnormality of the lower urinary tract", + "posterior nasal aperture atresia", "Hypospadias", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "abnormal shape of palpebral fissure", + "epicanthal fold", + "hindlimb long bone", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "abnormal urethra", + "Abnormal male urethral meatus morphology", + "excretory system", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "Abnormality of prenatal development or birth", + "male urethra", + "Abdominal wall defect", + "Almond-shaped palpebral fissure", + "head bone", + "shape digit", + "Clubbing", + "cranial neuron projection bundle", + "abnormal spermatogenesis", "Abnormal shape of the palpebral fissure", + "Short stature", + "Abnormality of the vertebral column", "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", + "vertebral column", "Scoliosis", - "Abnormality of the vertebral column", - "Macule", + "Abnormal curvature of the vertebral column", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", + "Abnormal midface morphology", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Deviation of the 5th finger", + "regional part of brain", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", + "abnormal neurocranium morphology", "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", + "Hematological neoplasm", + "abnormal immune system morphology", + "lobe of cerebral hemisphere", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", "Leukopenia", - "Abnormal forebrain morphology", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal hematopoietic system", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal ocular adnexa morphology", "abnormally decreased number of hematopoietic cell", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", + "abnormal uvea morphology", "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", - "Abnormality of the ear", - "abnormally decreased number of leukocyte", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", "abnormal immune system", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormally decreased number of cell in the independent continuant", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Myelodysplasia", - "Frontal bossing", + "pedal digitopodium region", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "Facial asymmetry", + "Abnormal leukocyte count", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "abnormally decreased number of leukocyte in the blood", + "semi-lunar valve", + "hematopoietic cell", + "motile cell", + "abnormal leg", + "nucleate cell", + "haemolymphatic fluid", + "systemic artery", + "delayed biological_process", + "decreased pigmentation in independent continuant", + "tissue development", + "delayed growth", + "Abnormality of vision", + "Non-obstructive azoospermia", + "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", + "Abnormality of the integument", "abnormal size of brain ventricle", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "glandular system", "abnormal endocrine system", "Abnormality of the endocrine system", - "abnormal liver", + "forelimb", + "skeleton of pelvic complex", + "behavior", + "abdomen element", "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", + "liver", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", "abnormal anatomical entity topology in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", + "non-material anatomical boundary", "Hypertelorism", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", + "abnormal anatomical entity length", "increased anatomical entity length in independent continuant", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Renal insufficiency", + "late embryo", + "Cardiomyopathy", + "flat bone", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "abnormal anatomical entity, curved", + "anatomical line", + "immaterial anatomical entity", + "heart plus pericardium", + "gray matter of forebrain", "Oligohydramnios", - "abnormal soft palate morphology", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", - "abnormal biological_process", - "Growth delay", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "Duodenal stenosis", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "abnormal intestine morphology", + "amniotic fluid", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "Abnormality of the autonomic nervous system", + "Absent testis", + "embryo", + "skeleton of lower jaw", + "abnormal small intestine", + "cavitated compound organ", "Abnormal duodenum morphology", + "Azoospermia", + "Abnormal small intestine morphology", + "Ventricular septal defect", + "small intestine", + "duodenum", + "abnormal phalanx morphology", + "pes", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "pelvic appendage", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "digitopodium region", + "acropodium region", + "tube development", + "abnormal digit", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "skeleton of pedal digitopodium", + "leg", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "skeleton of pes", + "abnormal hindlimb morphology", + "Abnormal digit morphology", + "digit", "Abnormality of the lower limb", - "abnormal digit morphology", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", - "3-D shape anatomical entity", - "Almond-shaped palpebral fissure", - "shape digit", - "Clubbing", - "Abnormal cellular physiology", "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "abnormal digit", - "abnormal pedal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "abnormal oral cavity morphology", - "Abnormal soft palate morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", + "shape forehead", + "posterior region of body", + "phalanx endochondral element", + "abnormal phalanx of pes morphology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "Hernia of the abdominal wall", - "Abnormal palate morphology", - "Abnormal midface morphology", + "abnormal digit morphology", + "skeleton of digitopodium", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "individual digit of digitopodial skeleton", + "Choanal atresia", + "acropodial skeleton", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "phalanx", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", "abnormal midface morphology", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "Neurodevelopmental delay", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "abnormal oral cavity morphology", + "abnormal soft palate morphology", + "anatomical projection", + "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical cavity", + "palatine uvula", + "Abnormal erythrocyte morphology", + "soft palate", + "Abnormal aortic valve morphology", + "midface", + "Abnormal soft palate morphology", + "Abnormal oral cavity morphology", + "Anemia", + "morphological feature", + "arterial blood vessel", + "anatomical structure development", + "Abnormality of skin morphology", + "abnormal cornea, curved", + "pigmentation", + "semen", + "abnormality of anatomical entity physiology", + "integumental system", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "integument", + "tracheobronchial tree", + "cerebral cortex", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "Abnormal ileum morphology", + "eyeball of camera-type eye", + "abnormal upper urinary tract", "abnormal skin of body", - "Epicanthus", - "increased size of the anatomical entity in independent continuant", - "Abnormality of the integument", - "abnormal cardiac valve morphology in the heart", - "increased length of the anatomical entity", - "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "ulna hypoplasia", - "abnormal skin of body morphology", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal integument", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", + "ulna hypoplasia", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal nerve", + "limb joint", + "Hyperpigmentation of the skin", + "increased biological_process in skin of body", + "increased pigmentation in independent continuant", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "independent continuant", + "abnormal pigmentation", + "abnormality of cranial nerve physiology", + "paralysed cranial nerve", + "vein", + "multi cell part structure", + "cranial nerve", + "Frontal bossing", + "nerve", "Abnormal cranial nerve physiology", "Cranial nerve paralysis", - "paralysed cranial nerve", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", + "segment of manus", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "abnormal manus morphology", "Aplasia/hypoplasia involving the skeleton", - "Abnormal erythrocyte morphology", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the extremities", + "circulatory system", + "Spina bifida", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "decreased pigmentation in skin of body", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "abnormal behavior process", "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", + "abnormal manus", + "skeleton of manus", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "anatomical space", "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "appendage", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", + "Clinodactyly of the 5th finger", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "Abnormality of bone mineral density", + "biogenic amine secreting cell", + "ossification", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the skeletal system", - "Deviation of finger", - "Abnormality of the eye", - "Finger clinodactyly", + "deviation of manual digit", + "manual digit 5", + "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "curved anatomical entity", - "decreased length of long bone", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "digit 1 or 5", + "trunk", + "manual digit 5 plus metapodial segment", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "deviation of digit towards the middle", + "Short forearm", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "forelimb zeugopod bone hypoplasia", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "Upper limb undergrowth", + "aplasia or hypoplasia of telencephalon", "decreased size of the anatomical entity in the independent continuant", + "abnormal incomplete closing of the interatrial septum", + "Decreased multicellular organism mass", + "intestine", "Aplasia/Hypoplasia of the ulna", - "bicornuate anatomical entity", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant" + "articular system", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "Spinal dysraphism", + "articulation", + "increased size of the brain ventricle", + "zone of organ", + "abnormal voluntary movement behavior", + "tissue", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "skeletal joint dislocation", + "abnormal synovial joint morphology", + "Ventriculomegaly", + "multicellular organism development", + "trunk bone", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "peripheral nervous system", + "abnormal hip joint morphology", + "Micrognathia", + "anatomical entity dislocation", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "Abnormal hip bone morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "stylopod", + "upper leg bone", + "abnormally localised anatomical entity", + "Abnormal heart morphology", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "abnormal limb bone", + "anatomical structure morphogenesis", + "dentary", + "femur endochondral element", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "autopodial skeleton", + "epithelium", + "presumptive structure", + "abnormal neural tube morphology", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "nervous system development", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "Aplasia/Hypoplasia of the cerebrum", + "tube closure", + "neural tube", + "developing anatomical structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "embryonic structure", + "abnormal palpebral fissure", + "abnormal tube formation", + "Neural tube defect", + "anatomical structure formation involved in morphogenesis", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "embryo development", + "Abnormal neural tube morphology", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal multicellular organismal reproductive process", + "system development", + "appendicular skeleton", + "spinal cord", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "ganglion of peripheral nervous system", + "abnormal autonomic nervous system morphology", + "conceptus", + "abnormal vertebra morphology", + "embryonic epithelial tube formation", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Vertebral arch anomaly", + "dorsum", + "abnormal bony vertebral centrum morphology", + "brain ventricle", + "future nervous system", + "abnormal olfactory system morphology", + "bony vertebral centrum", + "enteric ganglion", + "Unusual infection", + "abnormal enteric ganglion morphology", + "neurocranium bone", + "Abnormal autonomic nervous system morphology", + "parasympathetic nervous system", + "autonomic nervous system", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "Abnormality of enteric ganglion morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "embryonic tissue", + "ileum", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal respiratory system morphology", + "abnormally protruding anatomical entity", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal vault of skull", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + "membrane bone", + "cranial bone", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "female reproductive system", + "dermal skeleton" ], "has_phenotype_count": 106, "highlight": null, "score": null }, { - "id": "MONDO:0013248", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "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 RAD51C gene.", - "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], "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" + "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:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", "HP:0002984", - "HP:0000126", - "HP:0000028", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", + "HP:0001876", + "HP:0000347", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0000414", + "HP:0001903", + "HP:0012745", + "HP:0000085", + "HP:0003221", "HP:0004322", - "HP:0001245", - "HP:0003774", - "HP:0025023" + "HP:0000365", + "HP:0000028", + "HP:0000125", + "HP:0001045" ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", + "Pancytopenia", + "Micrognathia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", - "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia" + "Bulbous nose", + "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", + "Chromosomal breakage induced by crosslinking agents", + "Short stature", + "Hearing impairment", + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo" ], "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", - "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", - "HP:0001510", + "HP:0000086", + "CL:0000039", + "CL:0000413", + "UBERON:0001968", + "HP:0000078", + "HP:0000035", + "UPHENO:0005016", + "UBERON:0000463", + "UPHENO:0078729", + 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"HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", - "UPHENO:0081424", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0000541" + "UBERON:0002471", + "UPHENO:0075198", + "UBERON:0002529", + "UPHENO:0008668", + "UPHENO:0068971", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0003085", + "UPHENO:0078606", + "HP:0006265", + "GO:0071704", + "UBERON:0011159", + "HP:0000153", + "UPHENO:0080377", + "UBERON:0004111", + "UBERON:0011137", + "UBERON:0002090", + "UPHENO:0083646", + "UBERON:0001893", + "UBERON:0001890", + "UBERON:0000047", + "HP:0025461", + "HP:0000234", + "UPHENO:0049748", + "HP:0000707", + "UPHENO:0086172", + "NCBITaxon:33154", + "UBERON:0000970", + "UBERON:0004742", + "HP:0000252", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0087472", + "UPHENO:0074575", + "UPHENO:0046707", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0081566", + "NCBITaxon:1", + "HP:0000957", + "UBERON:0000481", + "HP:0012443", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "NCBITaxon:6072", + "HP:0002860", + "UPHENO:0087123", + "UPHENO:0081788", + "HP:0002664", + "HP:0011793", + "HP:0001507", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0001456", + "HP:0005105", + "UPHENO:0049874", + "UPHENO:0000543", + "UPHENO:0086023", + "HP:0001510", + "UBERON:0000161", + "UPHENO:0084761", + "HP:0001872", + "UPHENO:0046753", + "UBERON:0003103", + "HP:0000315", + "UPHENO:0085189", + "UPHENO:0034770", + "HP:0032039", + "UPHENO:0076761", + "HP:0012745", + "HP:0000492", + "UPHENO:0075220", + "UPHENO:0086595", + "HP:0030669", + "UBERON:0001819", + "UBERON:0011584", + "UPHENO:0084987", + "UPHENO:0080200", + "HP:0200007", + "HP:0000125", + "UPHENO:0002910", + "HP:0045025", + "UPHENO:0041821", + "UPHENO:0020041", + "HP:0000271", + "UBERON:0001474", + "CL:0000329", + "HP:0006503", + "UBERON:0002104", + "UBERON:0003462", + "HP:0010461", + "UPHENO:0054567", + "UBERON:0034923", + "UBERON:0034921", + "UPHENO:0077426", + "HP:0020047", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0085070", + "GO:0065007", + "UPHENO:0087355", + "HP:0012145", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0087339", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0085984", + "HP:0002715", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "CL:0000458", + "UPHENO:0087089", + "CL:0000764", + "UPHENO:0063722", + "HP:0001881", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "HP:0005561", + "HP:0011893", + "HP:0010987", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "GO:0032502", + "UPHENO:0002832", + "HP:0032251", + "UPHENO:0026028", + "UPHENO:0084928", + "UPHENO:0085302", + "CL:0000000", + "UPHENO:0002948", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000233", + "UBERON:0013522", + "UBERON:0001710", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", + "UPHENO:0076779", + "CL:0000255", + "UPHENO:0080099", + "CL:0000219", + "CL:0002242", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009122", + "HP:0011821", + "HP:0009118", + "UBERON:0010313", + "CL:0000015", + "UPHENO:0002830", + "UBERON:0004288", + "UBERON:0011595", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0003457", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "UPHENO:0081786", + "UBERON:0011158", + "UBERON:0003135", + "HP:0009116", + "HP:0000347", + "HP:0025031", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", + "UPHENO:0002896", + "GO:0043933", + "UBERON:0012360", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0076800", + "HP:0034261", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0076692", + "UPHENO:0069249", + "UPHENO:0076803", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "GO:0050877", + "HP:0011927", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076805", + "UPHENO:0088168", + "UBERON:0002268", + "UBERON:0000466", + "UPHENO:0084715", + "UBERON:0002470", + "UBERON:0007827", + "UPHENO:0087430", + "CL:0000300", + "HP:0012130", + "UBERON:0011143", + "UBERON:0005177", + "UPHENO:0041629", + "UPHENO:0087427", + "UBERON:0000916", + "HP:0100542", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0082129", + "UBERON:0005173", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "HP:0012210", + "UBERON:8450002", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0002907", + "HP:0010935", + "UBERON:0002398", + "UBERON:0009569", + "HP:0000085", + "UBERON:0010323", + "UBERON:0000489", + "UPHENO:0041226", + "UBERON:0001008", + "UPHENO:0050113", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "UPHENO:0050116", + "GO:0008152", + "HP:0000079", + "GO:0048523" ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", - "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", - "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", + "Pelvic kidney", + "Ectopic kidney", + "sperm", + "haploid cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormality of reproductive system physiology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", + "decreased spermatogenesis", + "abnormal testis morphology", + "male germ cell", + "male gamete", + "reproductive system", + "abnormality of reproductive system physiology", + "abnormal gamete", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "external male genitalia", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "abnormally localised anatomical entity in independent continuant", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "semen", + "reproductive structure", + "organism substance", + "absent gamete", + "male gamete generation", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "gonad", + "external genitalia", + "reproductive process", + "decreased qualitatively developmental process", + "Abnormal testis morphology", + "Azoospermia", + "abnormal male reproductive system morphology", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "system process", + "ear", + "abnormal developmental process", + "sensory perception", + "abnormality of anatomical entity physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "multicellular organismal process", + "abnormal size of multicellular organism", + "abnormality of multicellular organism height", + "Short stature", + "decreased height of the multicellular organism", + "Chromosomal breakage induced by crosslinking agents", "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", - "decreased qualitatively biological_process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", "abnormal cellular component organization", - "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal cellular process", - "abnormal palmar part of manus morphology", - "Growth abnormality", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", + "abnormal primary metabolic process", "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "Abnormality of head or neck", + "Abnormal cerebral morphology", + "arm bone", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "root", + "appendage", + "organism", + "Neoplasm of the skin", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "regional part of nervous system", + "Abnormality of brain morphology", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "multi-tissue structure", + "tissue", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal mouth", + "Abnormality of skin pigmentation", + "skeleton of limb", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal pigmentation", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "decreased length of forelimb zeugopod bone", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Cafe-au-lait spot", + "primary subdivision of skull", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "biological_process", + "abnormal integument", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "pigmentation", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "skeleton of manus", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "gamete generation", + "protein-containing material entity", + "agenesis of anatomical entity", + "digit", + "Hyperpigmentation of the skin", + "Abnormal digit morphology", + "cellular process", "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", + "abnormal autopod region morphology", + "Abnormal myeloid cell morphology", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Neoplasm", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "skeletal element", + "zeugopod", + "cranial skeletal system", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "abnormal face", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "craniocervical region", + "forelimb zeugopod skeleton", + "facial skeleton", + "anatomical conduit", + "abnormal limb morphology", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of skeleton", + "lateral structure", + "decreased length of anatomical entity", + "bone of pectoral complex", "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", + "subdivision of skeletal system", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "subdivision of head", + "appendage girdle complex", + "manual digit plus metapodial segment", + "abnormal craniocervical region morphology", + "continuant", + "abnormal size of anatomical entity", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "material anatomical entity", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal phenotype by ontology source", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "erythrocyte", + "abnormal blood cell", + "quality", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "skeletal system", + "motile cell", + "skull", + "limb skeleton subdivision", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal forebrain morphology", + "forelimb", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "absent manual digit", + "decreased size of the mandible", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "forelimb zeugopod", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "anatomical system", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", "decreased length of manual digit", - "Abnormality of limbs", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "endochondral element", "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", - "decreased height of the multicellular organism", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", + "Abnormality of limbs", + "membrane bone", + "paired limb/fin", "Hypoplasia of the radius", - "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "limb", + "increased size of the anatomical entity", + "bone element", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "abnormal limb bone morphology", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "abnormal DNA metabolic process", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "forelimb skeleton", + "genitourinary system", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "Aplasia/hypoplasia of the extremities", "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", + "Hypoplastic facial bones", + "forelimb bone", + "anatomical entity hypoplasia", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "upper limb segment", + "appendicular skeleton", + "appendicular skeletal system", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "bone of appendage girdle complex", + "aplastic manual digit 1", + "dentary", + "segment of autopod", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "arm", + "abnormal nose morphology", + "skeleton", + "organism subdivision", + "forelimb zeugopod bone hypoplasia", + "Microcephaly", + "Abnormality of the musculoskeletal system", + "subdivision of trunk", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "bone of lower jaw", + "mandible hypoplasia", + "integument", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin segment", + "abnormal axial skeleton plus cranial skeleton morphology", + "Opisthokonta", "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", "Short forearm", "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", + "subdivision of digestive tract", + "limb endochondral element", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "multi-limb segment region", "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", + "Limb undergrowth", + "abnormal face morphology", + "radius endochondral element", + "limb long bone", + "zeugopodial skeleton", + "eye", + "compound organ", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", + "abnormal nervous system", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "forelimb zeugopod bone", + "nervous system", + "Narrow palpebral fissure", + "renal system", + "axial skeleton plus cranial skeleton", "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", + "Abnormality of the nervous system", + "Abnormal hand morphology", + "Metazoa", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "abnormal facial skeleton morphology", + "main body axis", + "Abnormal appendicular skeleton morphology", + "decreased width of the palpebral fissure", "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "abnormal telencephalon morphology", + "body proper", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "axial skeletal system", + "Growth abnormality", + "abnormal orbital region", + "aplasia or hypoplasia of manual digit", + "face", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "delayed growth", "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", - "Short finger", - "thenar eminence hypoplasia", - "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", - "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", + "abnormal ocular adnexa", + "multi organ part structure", + "hemolymphoid system", + "camera-type eye", + "Abnormality of the hand", + "radius bone", + "Anemia", + "ocular adnexa", + "manus", + "abnormal eyelid morphology", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "abnormal size of palpebral fissure", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormality of the orbital region", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "organ part", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormality of the face", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "orbital region", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", + "phenotype by ontology source", + "abnormal ocular adnexa morphology", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "internal male genitalia", + "programmed DNA elimination", + "decreased length of long bone", + "obsolete cell", + "digestive system", + "abnormal hematopoietic system", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "Abnormality of the immune system", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormal immune system", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal hematopoietic system morphology", + "abnormal limb long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "nucleate cell", + "oxygen accumulating cell", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Abnormal jaw morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormal digit", + "lower jaw region", + "subdivision of tube", + "anatomical entity hypoplasia in face", + "abnormal digestive system", + "digestive tract", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", - "Short stature", - "decreased size of the multicellular organism", - "abnormal growth", - "abnormal cardiovascular system", - "delayed growth" + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "Abnormality of body height", + "tube", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "immune system", + "facial bone", + "mandible", + "Abnormality of thrombocytes", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "abnormal jaw skeleton morphology", + "Abnormality of the digestive system", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "anterior region of body", + "decreased length of manual digit 1", + "Short digit", + "Short finger", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "anatomical point", + "aplastic anatomical entity", + "Bulbous nose", + "abnormally increased volume of anatomical entity", + "Abnormal external nose morphology", + "Abnormality of the nose", + "nose", + "nose tip", + "olfactory organ", + "Abnormal nasal tip morphology", + "entire sense organ system", + "abnormal external nose morphology", + "immaterial anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "Horseshoe kidney", + "abnormal renal system morphology", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "abnormal renal system", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "3-D shape anatomical entity", + "changed developmental process rate", + "abnormal genitourinary system", + "excretory system", + "Abnormality of the kidney", + "manual digit 1 plus metapodial segment", + "abdomen", + "abdominal segment element", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "metabolic process", + "abdominal segment of trunk", + "biological regulation", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "abnormal chromatin organization", + "abnormal metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process" ], - "has_phenotype_count": 15, + "has_phenotype_count": 20, "highlight": null, "score": null }, { - "id": "MONDO:0013499", + "id": "MONDO:0013248", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group P", + "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 SLX4 gene.", - "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene.", + "xref": ["DOID:0111096", "GARD:15656", "OMIM:613390", "UMLS:C3150653"], "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" + "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:0000957", - "HP:0000252", - "HP:0002860", + "HP:0040012", "HP:0002984", - "HP:0000581", - "HP:0001510", - "HP:0001876", - "HP:0000347", - "HP:0009778", - "HP:0000414", - "HP:0001903", - "HP:0012745", - "HP:0000085", - "HP:0003221", - "HP:0004322", - "HP:0000365", - "HP:0000028", - "HP:0000125", - "HP:0001045" - ], - "has_phenotype_label": [ - "Absent thumb", - "Cafe-au-lait spot", - "Microcephaly", - "Squamous cell carcinoma", - "Hypoplasia of the radius", - "Blepharophimosis", - "Growth delay", - "Pancytopenia", - "Micrognathia", - "Short thumb", - "Bulbous nose", - "Anemia", - "Short palpebral fissure", - "Horseshoe kidney", - "Chromosomal breakage induced by crosslinking agents", - "Short stature", - "Hearing impairment", - "Cryptorchidism", - "Pelvic kidney", - "Vitiligo" - ], - "has_phenotype_closure": [ - "UPHENO:0002597", - "HP:0000078", - "UPHENO:0003055", - "HP:0000080", - "UPHENO:0053580", - "UPHENO:0050101", - "HP:0012874", - "HP:0000812", - "UPHENO:0081755", - "HP:0000811", + "HP:0009777", + "HP:0001627", + "HP:0002023", + "HP:0000126", "HP:0000028", - "UPHENO:0049701", - "HP:0008669", - "UPHENO:0078452", - "UPHENO:0053644", - "UPHENO:0049970", - "UPHENO:0002595", - "UPHENO:0049367", - "UPHENO:0087846", - "UPHENO:0086198", - "HP:0012243", - "UPHENO:0002598", - "HP:0000027", - "HP:0000035", - "UPHENO:0087973", - "UPHENO:0085874", - "HP:0000025", - "UPHENO:0085194", - "UPHENO:0005651", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0082875", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052970", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0052178", - "UPHENO:0002240", - "HP:0000002", - "UPHENO:0080352", - "UPHENO:0081424", - "HP:0011017", - "HP:0003221", - "UPHENO:0050116", - "HP:0001939", - "UPHENO:0050021", - "UPHENO:0049990", - "UPHENO:0049748", - "UPHENO:0050113", - "HP:0003220", - "HP:0000079", - "UPHENO:0086023", - "UPHENO:0041226", - "UPHENO:0080382", - "UPHENO:0041629", - "UPHENO:0082129", - "HP:0012210", - "HP:0000085", - "UPHENO:0002332", - "UPHENO:0087427", - "HP:0100542", - "UPHENO:0049940", - "HP:0010935", - "HP:0012130", - "HP:0001877", - "HP:0001903", - "UPHENO:0087430", - "UPHENO:0065599", - "HP:0000436", - "UPHENO:0084715", - "HP:0000414", - "UPHENO:0088168", - "HP:0000086", - "UPHENO:0001072", - "UPHENO:0053298", - "UPHENO:0084727", - "HP:0009381", - "UPHENO:0046624", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076803", - "UPHENO:0083646", - "HP:0034261", + "HP:0009778", + "HP:0009623", + "HP:0000107", + "HP:0003241", "HP:0004322", - "UPHENO:0002833", - "HP:0009118", - "HP:0011821", - "UPHENO:0046411", - "HP:0000277", - "HP:0025031", - "HP:0000347", - "UPHENO:0081786", - "HP:0000252", - "HP:0000924", - "UPHENO:0076941", - "HP:0010987", - "HP:0002060", - "UPHENO:0076718", - "UPHENO:0054567", - "UPHENO:0004523", - "UPHENO:0085873", - "HP:0000234", - "UPHENO:0005433", - "UPHENO:0080114", - "HP:0010461", - "UPHENO:0050625", - "HP:0000929", - "UPHENO:0087802", - "HP:0001000", - "UPHENO:0087547", - "UPHENO:0088170", - "UPHENO:0001001", - "UPHENO:0084761", - "UPHENO:0081566", - "HP:0003026", - "UPHENO:0076791", - "UPHENO:0086589", - "UPHENO:0080300", - "UPHENO:0002896", - "UPHENO:0002635", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0088162", - "HP:0000953", - "HP:0025033", - "UPHENO:0087907", - "HP:0006501", - "UPHENO:0080377", - "UPHENO:0075195", - "UPHENO:0080662", - "UPHENO:0081435", - "UPHENO:0021791", - "HP:0001574", - "HP:0007400", - "HP:0000001", - "HP:0000032", - "UPHENO:0022529", - "UPHENO:0002903", - "HP:0011875", - "UPHENO:0050121", - "HP:0002692", - "UPHENO:0074572", - "UPHENO:0080221", - "HP:0000957", + "HP:0001245", + "HP:0003774", + "HP:0025023" + ], + "has_phenotype_label": [ + "Chromosome breakage", + "Hypoplasia of the radius", + "Absent thumb", + "Abnormal heart morphology", + "Anal atresia", + "Hydronephrosis", + "Cryptorchidism", + "Short thumb", + "Proximal placement of thumb", + "Renal cyst", + "External genital hypoplasia", + "Short stature", + "Small thenar eminence", + "Stage 5 chronic kidney disease", + "Rectal atresia" + ], + "has_phenotype_closure": [ + "UBERON:0000160", + "UBERON:0006866", + "UBERON:0001052", "UPHENO:0086700", - "UPHENO:0020584", - "HP:0002813", - "UPHENO:0021517", - "UPHENO:0087950", - "UPHENO:0002964", - "UPHENO:0018390", - "UPHENO:0008668", - "UPHENO:0050845", - "UPHENO:0034770", - "UPHENO:0080099", - "UPHENO:0076739", - "HP:0007364", - "HP:0002977", - "UPHENO:0086595", - "HP:0000492", - "UPHENO:0088116", - "UPHENO:0054970", - "UPHENO:0002378", - "UPHENO:0060026", - "HP:0009380", - "UPHENO:0084763", - "UPHENO:0076702", - "UPHENO:0002708", - "UPHENO:0002764", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0087501", - "HP:0000707", - "UPHENO:0086172", - "HP:0001034", - "HP:0001873", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0075159", - "HP:0100547", - "UPHENO:0002880", - "HP:0012443", - "UPHENO:0026181", - "UPHENO:0084987", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0086633", - "HP:0030791", - "UPHENO:0049587", - "UPHENO:0002844", - "HP:0011297", - "UPHENO:0046707", - "UPHENO:0087472", - "UPHENO:0005016", - "HP:0000119", - "HP:0000152", - "UPHENO:0074584", - "UPHENO:0081790", - "HP:0001871", - "UPHENO:0079876", - "HP:0000118", - "UPHENO:0080165", - "HP:0001172", - "UPHENO:0076724", - "UPHENO:0085195", - "HP:0011961", + "UBERON:0001015", "UPHENO:0087006", - "HP:0032039", - "UPHENO:0077426", - "HP:0000240", - "HP:0000077", + "UBERON:5001463", + "UPHENO:0009382", + "NCBITaxon:2759", + "UBERON:0019221", + "UBERON:0001442", + "HP:0000001", + "UBERON:0008837", + "UPHENO:0008523", + "UPHENO:0006910", "UPHENO:0002905", - "HP:0012733", - "UPHENO:0081423", - "UPHENO:0002642", - "UPHENO:0080325", - "UPHENO:0059829", - "BFO:0000020", - "UPHENO:0074589", - "HP:0200007", - "HP:0000153", - "HP:0006265", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0081788", - "HP:0002860", - "UPHENO:0087123", - "UPHENO:0026183", - "HP:0040068", - "HP:0031704", - "HP:0040070", - "HP:0005922", - "HP:0001045", + "HP:0000077", + "UPHENO:0080114", + "HP:0001155", + "UBERON:0015001", + "UPHENO:0005433", + "UPHENO:0026506", + "UBERON:0002544", + "UBERON:0005451", + "UPHENO:0081466", + "UBERON:0004765", + "UBERON:0000467", + "UBERON:0001423", + "UBERON:0003460", + "UPHENO:0001002", "HP:0009601", - "HP:0001507", - "HP:0045060", - "UPHENO:0076723", - "UPHENO:0088186", + "UBERON:0003607", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0011582", + "UPHENO:0052178", + "UBERON:0004708", + "UBERON:0013765", + "UBERON:0012139", + "UPHENO:0012541", + "GO:0090304", + "UPHENO:0046540", + "UBERON:0000477", + "UBERON:0012140", + "HP:0001167", + "HP:0040064", + "HP:0033127", + "HP:0011425", + "UBERON:0001630", + "UPHENO:0081313", + "HP:0011842", + "UPHENO:0075696", "HP:0009815", + "UPHENO:0088186", + "HP:0000027", + "UPHENO:0069294", + "UPHENO:0080126", + "UPHENO:0080079", + "GO:0009892", + "GO:0010605", + "UBERON:0015021", + "UBERON:0002386", + "UPHENO:0086635", + "HP:0000812", + "UBERON:0007272", + "UPHENO:0088142", + "UPHENO:0050108", + "HP:0000107", + "UPHENO:0079872", + "GO:0019953", + "UBERON:0010758", + "UPHENO:0076727", + "UPHENO:0076724", + "UPHENO:0081451", + "UPHENO:0018390", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0002101", + "UPHENO:0012274", + "UBERON:0002113", + "HP:0011314", + "UPHENO:0084763", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "HP:0000126", + "HP:0000083", + "UPHENO:0005597", + "CL:0000300", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "UBERON:0001460", + "GO:0040007", + "UPHENO:0008668", + "UPHENO:0068971", + "UBERON:0002529", + "HP:0009826", + "UBERON:0010708", + "HP:0005922", + "UBERON:0005178", + "UPHENO:0049701", + "UPHENO:0081433", + "UPHENO:0002442", + "UBERON:0002389", + 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"UPHENO:0046624", + "HP:0009381", + "UPHENO:0046411", + "HP:0009623", + "UBERON:0012361", + "HP:0004097", + "UPHENO:0050101", + "UBERON:0001353", + "HP:0009484", + "UPHENO:0084829", + "HP:0001507", "UPHENO:0080351", - "HP:0009122" + "GO:0010468", + "UPHENO:0000541", + "UPHENO:0076740", + "HP:0100871", + "HP:0000002", + "UPHENO:0049874", + "UBERON:0003466", + "UPHENO:0069254", + "UPHENO:0000543", + "UBERON:0013522", + "HP:0009127", + "HP:0002250", + "UBERON:0034929", + "UPHENO:0002655", + "UBERON:0000383", + "UPHENO:0081423", + "UBERON:0005409", + "UBERON:0008878", + "UBERON:0004481", + "HP:0011844", + "HP:0001227", + "UBERON:0034925", + "HP:0001421", + "GO:0032502", + "UPHENO:0002832", + "UPHENO:0063632", + "UBERON:0006048", + "UBERON:0007271", + "HP:0003011", + "UBERON:0007269", + "UBERON:0004480", + "UPHENO:0002411", + "HP:0012211", + "HP:0003774", + "HP:0002589", + "UPHENO:0063629", + "UPHENO:0076773", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0002725", + "HP:0011100", + "NCBITaxon:33154", + "HP:0012732", + "UPHENO:0084124", + "UPHENO:0087346", + "HP:0012718", + "HP:0025023", + "HP:0002034", + "NCBITaxon:1" ], "has_phenotype_closure_label": [ - "Vitiligo", - "Ectopic kidney", - "abnormally localised kidney", + "lower digestive tract", + "intestine", + "rectum", + "Metazoa", + "abnormal alimentary part of gastrointestinal system morphology", + "Rectal atresia", + "Abnormal intestine morphology", + "Abnormality of the gastrointestinal tract", + "large intestine", + "Morphological abnormality of the gastrointestinal tract", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "abnormal rectum", + "subdivision of tube", + "internal anal region", + "abnormal alimentary part of gastrointestinal system", + "Anorectal anomaly", + "rectum atresia", + "Abnormal renal physiology", + "Abnormality of the urinary system physiology", + "Renal insufficiency", + "Intestinal atresia", + "non-functional kidney", + "Chronic kidney disease", + "abnormal musculature", + "Abnormality of the musculature of the hand", + "musculature of body", + "musculature", + "Abnormality of the thenar eminence", + "Abnormal palm morphology", + "Abnormality of the musculature of the upper limbs", + "musculature of upper limb", + "Abnormality of the musculature of the limbs", + "musculature of manus", + "abnormal musculature of limb", + "decreased height of the anatomical entity", + "digestive system element", + "Growth delay", + "decreased size of the multicellular organism", + "growth", + "Abnormality of body height", + "Renal cyst", + "intestine atresia", + "Proximal placement of thumb", + "deviation of manual digit", + "Short finger", + "Eumetazoa", + "Eukaryota", + "decreased length of manual digit", + "Short digit", + "decreased length of manual digit 1", + "sperm", + "thenar eminence hypoplasia", + "germ line cell", + "appendage musculature", + "haploid cell", + "abnormal reproductive system", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", "abnormally localised anatomical entity", + "reproductive organ", "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal external male genitalia", - "Abnormality of the genital system", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "abnormal number of anatomical enitites of type sperm", + "abnormal male reproductive system", + "male germ cell", + "abnormality of multicellular organism height", + "male gamete", + "male organism", "abnormal spermatogenesis", + "abnormal gamete", + "abnormal developmental process involved in reproduction", + "testis", + "internal male genitalia", + "germ cell", + "Abnormality of reproductive system physiology", + "gamete", + "male reproductive system", + "spermatogenesis", + "gamete generation", + "abnormal location of anatomical entity", + "reproduction", + "developmental process involved in reproduction", + "obsolete multicellular organism reproduction", + "abnormal number of anatomical enitites of type sperm", "abnormally localised anatomical entity in independent continuant", + "abnormal large intestine morphology", "absent sperm in the independent continuant", - "abnormal male reproductive system", - "abnormality of internal male genitalia physiology", - "decreased qualitatively developmental process", + "Abnormality of male external genitalia", + "semen", + "reproductive structure", + "organism substance", "absent gamete", - "abnormal gamete", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "changed developmental process rate", - "abnormal anatomical entity topology in independent continuant", - "abnormal male reproductive system morphology", - "abnormal testis morphology", + "abnormally localised testis", + "gonad", + "abnormal number of anatomical enitites of type cell", + "external genitalia", + "developmental process", + "reproductive process", + "abnormal reproductive process", + "decreased qualitatively developmental process", + "Abnormality of the genital system", + "Abnormal rectum morphology", + "Abnormal skeletal muscle morphology", "Abnormal testis morphology", "Azoospermia", "Abnormality of the male genitalia", "abnormal multicellular organismal reproductive process", - "Abnormality of the ear", - "abnormality of ear physiology", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", - "decreased size of the multicellular organism", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", - "Chromosomal breakage induced by crosslinking agents", - "Pelvic kidney", - "Abnormal cellular physiology", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Abnormality of the urinary system", - "shape anatomical entity", - "abnormal genitourinary system", - "Abnormality of the kidney", - "3-D shape anatomical entity in independent continuant", - "U-shaped kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "U-shaped anatomical entity", - "3-D shape anatomical entity", - "Abnormality of the genitourinary system", - "shape kidney", + "abnormal anatomical entity topology in independent continuant", + "abnormal male reproductive system morphology", "abnormality of reproductive system physiology", "absent sperm", - "Horseshoe kidney", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "abnormal renal system morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal erythrocyte morphology", - "Abnormality of body height", - "abnormal external nose morphology", - "Abnormality of the nose", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormally increased volume of anatomical entity", - "Bulbous nose", - "abnormal nose morphology", - "Abnormal external nose morphology", - "increased size of the anatomical entity in independent continuant", - "decreased length of manual digit 1", - "Short digit", + "absent germ cell", + "changed biological_process rate", + "renal pelvis/ureter", + "abdominal segment of trunk", + "abdomen", + "Abnormal renal pelvis morphology", + "increased size of the renal pelvis", + "Abnormality of the upper urinary tract", + "Abnormality of the kidney", + "embryo", + "renal pelvis", + "organ part", + "sexual reproduction", + "abnormal genitourinary system", + "abnormal renal pelvis morphology", + "abnormal external male genitalia", + "Fetal anomaly", + "late embryo", + "abnormal musculature of upper limb", + "cavitated compound organ", + "Abnormal fetal genitourinary system morphology", + "Abnormal fetal morphology", + "abnormal renal pelvis", "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "abnormal mandible morphology", - "Abnormality of reproductive system physiology", - "Aplasia/Hypoplasia involving bones of the skull", - "abnormal digestive system", - "aplasia or hypoplasia of mandible", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "abnormal nervous system", - "Neoplasm", - "Morphological central nervous system abnormality", - "abnormal facial skeleton morphology", - "Abnormality of brain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal skull morphology", - "Abnormal leukocyte morphology", - "aplasia or hypoplasia of telencephalon", - "Decreased head circumference", - "delayed growth", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal biological_process in independent continuant", - "Abnormality of the nervous system", - "Squamous cell carcinoma", - "abnormal integument", - "abnormal biological_process", - "Hyperpigmentation of the skin", + "anatomical cluster", + "disconnected anatomical group", + "increased size of the anatomical entity in independent continuant", + "abnormal renal system", + "Abnormal renal morphology", + "renal system", + "kidney", + "multi-tissue structure", + "External genital hypoplasia", + "abnormally dilated anatomical entity", + "abnormally dilated renal pelvis", + "abnormal late embryo", + "Fetal pyelectasis", + "Abnormality of prenatal development or birth", + "abnormal renal system morphology", "abnormal digestive system morphology", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "decreased width of the anatomical entity in independent continuant", - "Abnormality of skin pigmentation", - "abnormal ocular adnexa morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Cafe-au-lait spot", - "Macule", + "Neoplasm by anatomical site", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal anus", + "multicellular organismal reproductive process", + "anatomical conduit", + "anus", + "abnormal muscle organ morphology", + "abnormal developmental process", + "abnormality of male reproductive system physiology", + "tube", + "digestive system", + "deviation of manual digit 1", + "digestive tract", + "abnormal digestive system", + "abnormal closing of the anatomical entity", + "upper urinary tract", + "Anal atresia", + "Dilatation of the renal pelvis", + "anus atresia", + "abnormal cardiovascular system morphology", + "body proper", + "decreased spermatogenesis", + "abnormal kidney morphology", + "main body axis", + "subdivision of organism along main body axis", + "delayed growth", + "abnormal cardiovascular system", + "Gastrointestinal atresia", + "trunk", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "Fetal ultrasound soft marker", + "excretory system", + "circulatory system", + "circulatory organ", + "viscus", + "Abnormal heart morphology", + "Cryptorchidism", + "heart plus pericardium", "aplasia or hypoplasia of anatomical entity", "Functional abnormality of male internal genitalia", "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "abnormal pigmentation in independent continuant", - "Abnormal forearm bone morphology", - "Short palpebral fissure", - "Abnormal size of the palpebral fissures", - "abnormal digit", - "abnormal telencephalon morphology", - "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "abnormal mouth", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormally localised testis", - "anatomical entity hypoplasia in face", - "Abnormality of digestive system morphology", - "abnormal limb", - "Abnormal appendicular skeleton morphology", - "abnormal head", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "abnormal bone marrow morphology", + "autopodial extension", + "abnormality of internal male genitalia physiology", + "organism subdivision", + "anatomical entity hypoplasia in independent continuant", + "abnormal forelimb morphology", + "abnormal testis morphology", + "forelimb zeugopod", + "male reproductive organ", + "cellular component organization or biogenesis", + "abnormal cell", + "Abnormality of limbs", "increased size of the anatomical entity", - "Abnormal nervous system morphology", "abnormal limb bone", - "Abnormality of multiple cell lineages in the bone marrow", - "increased qualitatively biological_process in independent continuant", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "aplastic anatomical entity", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "increased biological_process", - "abnormal myeloid cell morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "agenesis of anatomical entity", - "increased qualitatively biological_process", - "All", - "Abnormal upper limb bone morphology", - "absent anatomical entity", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "abnormal forebrain morphology", - "absent germ cell", - "abnormally increased volume of nose", - "increased biological_process in skin of body", - "changed biological_process rate", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Abnormality of skull size", - "abnormal face morphology", - "Limb undergrowth", - "abnormal platelet", - "abnormal reproductive system", - "Abnormality of head or neck", + "limb bone", + "abnormal number of anatomical enitites of type anatomical entity", + "Abnormality of the skeletal system", + "Abnormal forearm bone morphology", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "terminal part of digestive tract", + "absent anatomical entity in the limb", + "pectoral appendage", + "Deviation of the hand or of fingers of the hand", + "abnormal primary metabolic process", + "radius endochondral element", + "abnormal arm", + "absent anatomical entity in the forelimb", + "forelimb zeugopod bone", + "abnormal forelimb zeugopod bone", "abnormal limb morphology", + "forelimb zeugopod skeleton", + "palmar part of manus", "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal phenotype by ontology source", - "absent manual digit", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal spermatogenesis", - "Localized skin lesion", - "Abnormal hand morphology", - "absent digit", - "quality", - "abnormal limb bone morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormality of bone marrow cell morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "increased pigmentation", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormality of the skin", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "Aplasia/Hypoplasia of facial bones", - "Abnormality of the hand", - "abnormal sensory perception", - "abnormal manus", - "Finger aplasia", - "abnormal skull morphology", - "Abnormal platelet morphology", - "mandible hypoplasia", - "phenotype by ontology source", - "aplastic manual digit 1", - "Aplasia/Hypoplasia of the thumb", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormal morphology of the radius", - "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "abnormal arm", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "decreased biological_process", - "Short stature", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "abnormal anatomical entity morphology in the brain", - "Abnormality of limb bone", - "decreased qualitatively sensory perception of sound", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "absent anatomical entity in the multicellular organism", - "Abnormality of the orbital region", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased length of palpebral fissure", - "abnormal blood cell", - "abnormal pigmentation", - "abnormal ear", - "Absent thumb", - "abnormal autopod region morphology", - "decreased height of the multicellular organism", - "Short long bone", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "Abnormality of the head", - "Neoplasm of the skin", - "decreased length of long bone", + "anatomical entity", "abnormal radius bone morphology", - "abnormal face", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Aplasia/Hypoplasia of the radius", - "anatomical entity hypoplasia in independent continuant", - "Abnormal localization of kidney", - "Growth abnormality", - "abnormal orbital region", - "phenotype", - "Abnormal cell morphology", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "radius bone hypoplasia", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", + "Stage 5 chronic kidney disease", + "abnormal musculature of manus", + "mesoderm-derived structure", + "subdivision of digestive tract", + "delayed biological_process", + "Short forearm", + "limb endochondral element", + "abnormal appendicular skeleton morphology", + "abnormal external genitalia", + "abnormal size of anatomical entity", + "acropodium region", + "Hypoplasia of the radius", + "paired limb/fin", + "alimentary part of gastrointestinal system", + "muscle organ", "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", "abnormal anatomical entity length", - "abnormal palpebral fissure", - "abnormally decreased number of cell", + "regulation of macromolecule biosynthetic process", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "musculature of limb", + "negative regulation of biosynthetic process", + "decreased length of forelimb zeugopod bone", + "orifice", + "DNA metabolic process", "absent sperm in the semen", + "Hydronephrosis", "decreased length of anatomical entity", + "Abnormality of cardiovascular system morphology", "abnormal cellular metabolic process", "abnormal bone of pectoral complex morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "abnormal limb long bone morphology", - "increased pigmentation in skin of body", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "changed biological_process rate in independent continuant", + "Abnormal anus morphology", + "protein-DNA complex organization", + "arm", + "abnormal kidney", + "Abnormality of chromosome stability", + "abnormal manus", + "phenotype by ontology source", + "Non-obstructive azoospermia", + "regulation of cellular biosynthetic process", + "biological regulation", + "Abnormal thumb morphology", + "Abnormal upper limb bone morphology", + "aplasia or hypoplasia of skeleton", + "negative regulation of cellular process", + "decreased qualitatively reproductive process", + "genitourinary system", + "forelimb skeleton", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "male gamete generation", + "skeleton", + "decreased height of the multicellular organism", + "Short long bone", + "Deviation of finger", + "negative regulation of metabolic process", + "alimentary part of gastrointestinal system atresia", + "cellular component organization", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormality of renal system physiology", + "quality", + "regulation of gene expression", + "regulation of biological process", + "changed developmental process rate", + "lateral structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal anatomical entity morphology in the palmar part of manus", + "subdivision of trunk", + "absent manual digit", + "abnormal phenotype by ontology source", + "decreased qualitatively biological_process", + "abnormal cellular component organization", + "Abnormality of the digestive system", + "regulation of macromolecule metabolic process", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "negative regulation of gene expression", + "All", + "anatomical collection", + "abnormal programmed DNA elimination by chromosome breakage", + "abnormality of kidney physiology", + "negative regulation of cellular biosynthetic process", + "continuant", + "cellular metabolic process", "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal bone marrow cell morphology", - "Blepharophimosis", - "Abnormal erythrocyte morphology", + "bone element hypoplasia in independent continuant", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "process", + "nucleic acid metabolic process", + "Abnormality of limb bone morphology", + "regulation of cellular metabolic process", + "regulation of metabolic process", + "metabolic process", + "Small thenar eminence", + "organelle organization", + "obsolete cellular nitrogen compound metabolic process", + "abnormal cellular process", + "Abnormal long bone morphology", + "limb skeleton subdivision", + "Upper limb undergrowth", + "limb", + "Abnormality of the upper limb", + "cell", + "abnormal growth", + "independent continuant", + "reproductive system", + "organic cyclic compound metabolic process", + "segment of autopod", + "abnormal intestine morphology", + "aplastic manual digit 1", + "Abnormal cellular phenotype", + "decreased size of the radius bone", + "Abnormal appendicular skeleton morphology", + "material entity", + "abnormal spatial pattern of anatomical entity", + "protein-containing complex organization", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal palmar part of manus morphology", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "musculature of pectoral complex", + "thoracic cavity element", + "multicellular organism", + "absent anatomical entity in the multicellular organism", + "abnormal organelle organization", + "cellular organisms", + "Abnormality of the musculature", + "thoracic segment of trunk", + "abnormal digit", + "Abnormal cellular physiology", + "organic substance metabolic process", + "organ", + "occurrent", + "upper limb segment", + "appendicular skeleton", + "obsolete heterocycle metabolic process", + "non-functional anatomical entity", + "thoracic segment organ", "aplasia or hypoplasia of radius bone", - "decreased size of the mandible", + "pectoral appendage musculature", + "abnormal metabolic process", + "external male genitalia", + "chromatin organization", + "muscle structure", + "material anatomical entity", + "abdomen element", + "negative regulation of cellular metabolic process", + "appendicular skeletal system", + "anatomical structure", + "programmed DNA elimination", + "digit", + "abnormal anus morphology", + "Abnormality of metabolism/homeostasis", "abnormal anatomical entity", "Abnormal forearm morphology", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "decreased spermatogenesis", - "abnormal kidney morphology", - "decreased width of the palpebral fissure", - "Abnormality of the palpebral fissures", + "appendage girdle complex", + "macromolecule metabolic process", + "thenar eminence", + "Abnormality of digestive system morphology", + "abnormal limb", + "manus", + "abnormal biological_process", + "abnormal thenar eminence", + "abdominal segment element", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "biological_process", + "phenotype", + "obsolete nitrogen compound metabolic process", + "radius bone hypoplasia", + "Deviation of the thumb", + "Abnormal male reproductive system physiology", + "subdivision of organism along appendicular axis", + "deviation of anatomical entity", + "multicellular organismal process", + "Aplasia/hypoplasia involving forearm bones", + "obsolete cellular aromatic compound metabolic process", + "absent digit", + "nucleobase-containing compound metabolic process", + "Abnormal external genitalia", + "negative regulation of biological process", "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormal eyelid morphology", - "abnormal hematopoietic system", - "Abnormality of the upper urinary tract", - "decreased width of the anatomical entity", + "regulation of cellular process", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", + "anatomical entity hypoplasia", + "abnormal long bone morphology", + "ectoderm-derived structure", + "structure with developmental contribution from neural crest", + "long bone", + "Limb undergrowth", + "Aplasia/Hypoplasia of the radius", + "subdivision of skeleton", + "endochondral bone", "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "abnormal ocular adnexa", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal size of palpebral fissure", - "Narrow palpebral fissure", - "decreased height of the anatomical entity", - "Abnormality of the face", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "aplasia or hypoplasia of skull", - "Growth delay", - "abnormal cell", - "Abnormal leukocyte count", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Micrognathia", - "decreased size of the radius bone", - "Abnormal cellular phenotype", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "Pancytopenia", - "abnormal growth", - "abnormal leukocyte morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Anemia", - "abnormal bone marrow cell", - "abnormal nervous system morphology", - "abnormal cell morphology", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Aplasia/Hypoplasia of the mandible", + "forelimb zeugopod bone hypoplasia", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", + "abnormal upper urinary tract", + "musculoskeletal system", + "skeletal system", + "primary metabolic process", + "decreased length of long bone", + "Abnormality of the urinary system", + "forelimb bone", + "forelimb", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal large intestine morphology", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "arm bone", + "abnormal rectum morphology", + "abnormal limb long bone morphology", + "manual digit plus metapodial segment", + "abnormal skeletal system", + "palmar/plantar part of autopod", + "external soft tissue zone", + "Abnormality of limb bone", + "Abnormality of the anus", + "organ system subdivision", + "trunk region element", + "pectoral complex", + "abnormal size of multicellular organism", + "bone element", + "Opisthokonta", + "paired limb/fin segment", + "endochondral element", + "multi-limb segment region", + "abnormal limb bone morphology", + "root", + "appendage", + "compound organ", + "zeugopodial skeleton", + "obsolete cell", + "limb long bone", + "abnormal gamete generation", + "Abnormal morphology of the radius", + "manual digit", + "decreased size of the anatomical entity in the independent continuant", + "system", + "aplasia or hypoplasia of manual digit 1", + "anatomical system", + "anal region", + "paired limb/fin skeleton", + "zeugopod", + "skeletal element", + "abnormal heart morphology", + "skeleton of limb", + "multicellular anatomical structure", + "forelimb endochondral element", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "forelimb long bone", "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "Abnormality of the digestive system", - "abnormal head bone morphology", - "Abnormal jaw morphology", - "abnormal jaw skeleton morphology", - "abnormal mouth morphology", - "abnormal size of skull", - "Abnormality of the mouth", - "bone element hypoplasia in face" + "manual digit 1", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "segment of manus", + "pectoral appendage skeleton", + "abnormal manus morphology", + "abnormal anatomical entity morphology in the manus", + "cardiovascular system", + "manual digitopodium region", + "Finger aplasia", + "Neoplasm", + "manual digit 1 or 5", + "manual digit 1 plus metapodial segment", + "organism", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", + "abnormal manual digit morphology in the independent continuant", + "Abnormal spermatogenesis", + "Abnormal hand morphology", + "Abnormality of the hand", + "Aplasia/Hypoplasia of the thumb", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "primary circulatory organ", + "digit 1 or 5", + "Abnormal finger morphology", + "anterior region of body", + "aplastic anatomical entity", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Absent thumb", + "cellular process", + "Abnormal digit morphology", + "digit 1 plus metapodial segment", + "agenesis of anatomical entity", + "digit plus metapodial segment", + "absent anatomical entity", + "Short thumb", + "abnormal manual digit 1 morphology", + "abnormal digit morphology", + "abnormal male reproductive organ morphology", + "autopodial skeleton", + "skeleton of manus", + "radius bone", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "heart" ], - "has_phenotype_count": 20, + "has_phenotype_count": 15, "highlight": null, "score": null }, @@ -7032,7 +11349,7 @@ "full_name": null, "deprecated": null, "description": null, - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, @@ -7068,36 +11385,7 @@ "HP:0003355", "HP:0004322", "HP:0003126", - "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", - "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049" + "HP:0000083" ], "has_phenotype_label": [ "Osteomalacia", @@ -7115,674 +11403,710 @@ "Aminoaciduria", "Short stature", "Low-molecular-weight proteinuria", - "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", - "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis" + "Renal insufficiency" ], "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", - "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", - "UPHENO:0068442", - "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", + "CHEBI:32988", + "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:37622", + "CHEBI:16670", + "UPHENO:0081424", + "UPHENO:0069254", + "UPHENO:0020584", + "UPHENO:0049874", + "UPHENO:0075159", + "UPHENO:0000541", + "UPHENO:0086132", + "UPHENO:0075195", + "GO:0040007", + "CHEBI:33608", + "UPHENO:0068144", + "CHEBI:35605", + "UPHENO:0068169", + "UPHENO:0068040", + "CHEBI:36587", + "CHEBI:24651", "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", + "HP:0031980", + "UPHENO:0051670", + "CHEBI:33575", + "UPHENO:0068495", + "CHEBI:33709", + "HP:0003355", + "UPHENO:0068538", + "UPHENO:0046286", + "CHEBI:35352", + "UPHENO:0082943", + "HP:0012379", + "UPHENO:0068971", + "CHEBI:33695", + "CHEBI:33694", + "CHEBI:51143", + "HP:0004379", + "UPHENO:0075666", "UPHENO:0081777", - "UPHENO:0066927", + "CHEBI:50047", + "UPHENO:0046362", + "PR:000018263", + "CHEBI:33285", + "UPHENO:0080658", + "CHEBI:18133", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:17234", + "CHEBI:36962", + "HP:0020129", + "UPHENO:0046348", + "CHEBI:15693", "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", - "UPHENO:0066739", - "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", - "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", + "UPHENO:0066927", + "CHEBI:33259", + "UPHENO:0078554", + "UPHENO:0002332", + "UPHENO:0077821", + "CHEBI:36357", + "CHEBI:24870", + "UBERON:0000064", + "GO:0050801", + "GO:0048878", + "HP:0002148", + "CHEBI:23367", "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", - "UPHENO:0002816", - "HP:0001824", - "UPHENO:0034253", "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", - "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", - "HP:0002148", - "UPHENO:0050121", + "HP:0000083", + "GO:0032501", + "HP:0011804", + "HP:0001507", + "CHEBI:37577", + "HP:0001510", + "HP:0003109", + "HP:0012591", + "HP:0000079", + "UPHENO:0068511", + "BFO:0000002", + "UPHENO:0002442", + "PATO:0000001", + "UPHENO:0081423", + "UPHENO:0002642", "UPHENO:0046283", "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", - "HP:0003111", - "HP:0000079", - "HP:0004379", + "CHEBI:36963", + "UPHENO:0051186", + "UPHENO:0068054", + "UBERON:8450002", + "UBERON:0001088", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", + "BFO:0000004", + "UPHENO:0080352", + "UBERON:0000179", + "UPHENO:0046284", + "HP:0012072", + "CHEBI:25806", + "HP:0032943", + "UPHENO:0051801", + "CHEBI:60911", + "HP:0000001", + "CHEBI:60004", + "HP:0001942", "HP:0004360", "UPHENO:0051640", "UPHENO:0081546", - "UPHENO:0079822", - "UPHENO:0050539", - "HP:0011849", - "UPHENO:0048707", - "HP:0012211", - "UPHENO:0051847", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", - "UPHENO:0002964", - "UPHENO:0084653", - "UPHENO:0002320", - "HP:0430071", + "UPHENO:0034391", + "UPHENO:0024906", + "HP:0003011", + "HP:0012337", + "HP:0001871", + "BFO:0000003", + "CHEBI:59999", + "PR:000050567", + "HP:0004348", + "UPHENO:0052008", + "HP:0034684", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", "UPHENO:0082835", - "UPHENO:0068040", - "HP:0100529", - "UPHENO:0001005", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0051686", - "UPHENO:0001002", - "UPHENO:0046284", + "CHEBI:64709", + "UPHENO:0079536", + "UBERON:0003914", + "UPHENO:0051937", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", + "UPHENO:0082834", + "BFO:0000040", + "HP:0004349", + "CHEBI:23906", + "HP:0002749", + "UPHENO:0002320", + "UPHENO:0084653", "UPHENO:0068110", - "HP:0001947", - "UPHENO:0051645", - "UPHENO:0020748", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", + "UBERON:0003103", + "UBERON:0001231", + "UBERON:0004111", + "GO:0070293", + "UPHENO:0001005", + "HP:0040156", + "CHEBI:26020", + "UBERON:0000463", + "GO:0001503", + "UBERON:0000062", "HP:0000093", - "HP:0000001", - "HP:0004348", - "UPHENO:0082834", - "HP:0003774", - "UPHENO:0080659", - "UPHENO:0051668", - "UPHENO:0052116", - "HP:0000924", - "HP:0003330", - "HP:0010930", - "UPHENO:0046348", - "HP:0020129", - "HP:0000077", + "GO:0055062", + "UBERON:0005090", + "UBERON:0000468", + "UPHENO:0034253", + "UBERON:0002417", + "CHEBI:22314", + "UPHENO:0084654", + "UPHENO:0034351", + "UPHENO:0068292", + "HP:0011849", + "UPHENO:0048707", + "GO:0003008", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", + "UBERON:0002204", + "UPHENO:0051280", + "UBERON:0001015", + "CHEBI:36080", + "UBERON:0006314", + "CHEBI:37247", + "HP:0000118", + "GO:0008152", + "UPHENO:0086128", + "UPHENO:0049587", + "GO:0042592", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082539", + "UPHENO:0082538", + "UBERON:0000489", + "BFO:0000001", "UPHENO:0068089", - "UPHENO:0051937", - "HP:0002749", - "UPHENO:0001001", - "UPHENO:0081440", - "UPHENO:0086908", - "HP:0012599", + "HP:0003330", + "UBERON:0011216", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:28358", + "UBERON:0002100", + "CHEBI:33504", + "UBERON:0001434", + "UPHENO:0001003", + "HP:0003155", + "UPHENO:0080556", + "HP:0002900", + "BFO:0000015", + "UBERON:0000467", + "UBERON:0004765", "UPHENO:0075696", "HP:0011842", - "HP:0002150", + "UBERON:0001630", "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", - "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", + "UPHENO:0001001", + "UPHENO:0001002", + "CHEBI:60242", + "BFO:0000020", + "UPHENO:0012541", + "UPHENO:0068491", + "CHEBI:36360", + "UBERON:0000174", + "HP:0000924", + "UPHENO:0080555", + "UBERON:0000178", + "UPHENO:0068094", + "UPHENO:0076692", + "UPHENO:0002536", + "CHEBI:33238", + "UPHENO:0049628", "HP:0001939", + "CHEBI:35381", + "UBERON:0001062", + "CHEBI:72695", "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", - "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", + "UPHENO:0081550", + "GO:0008150", + "UPHENO:0051763", + "UPHENO:0050080", + "GO:0098771", + "UPHENO:0004459", + "UPHENO:0080351", + "UPHENO:0076286", + "HP:0032180", + "CHEBI:25367", + "HP:0011042", + "CHEBI:33250", + "UBERON:0002113", + "CHEBI:26082", + "CHEBI:33241", "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", + "CHEBI:36359", + "UPHENO:0049904", + "HP:0100529", + "UPHENO:0034217", + "UPHENO:0051960", + "UPHENO:0066739", + "UPHENO:0075902", + "UBERON:0004120", + "CHEBI:33675", + "UBERON:0002193", + "CHEBI:33302", + "CHEBI:16646", + "HP:0000124", + "UPHENO:0082543", + "UBERON:0000483", + "CHEBI:24431", + "HP:0003111", + "CHEBI:33318", + "UBERON:0004819", + "UPHENO:0002816", + "UBERON:0011143", "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", - "UPHENO:0002332", - "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", - "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", - "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", - "HP:0003355", - "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0009773", + "UPHENO:0068352", + "UPHENO:0051847", + "UBERON:0005177", + "UBERON:0005173", + "UPHENO:0002411", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", "HP:0001992", - "HP:0002086", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", - "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", - "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", - "UPHENO:0050116", - "HP:0012606", - "HP:0001941", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0051709", + "UPHENO:0066943", + "UPHENO:0049709", + "HP:0004322", + "CHEBI:26216", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "UBERON:0011676", + "UBERON:0009569", + "GO:0003014", + "UBERON:0005172", + "CHEBI:78616", + "HP:0000077", + "UBERON:0004122", + "HP:0010935", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "HP:0010929", + "UPHENO:0051898", + "PR:000000001", + "UPHENO:0034199", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068247", + "GO:0055067", + "CHEBI:26217", + "UPHENO:0034438", + "UPHENO:0051958", + "CHEBI:25213", "HP:0003648", + "HP:0001941", "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", - "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", - "UPHENO:0051712", - "UPHENO:0049587", - "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616" + "CHEBI:29103", + "CHEBI:33296", + "HP:0000002", + "HP:0033354", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0080659", + "UPHENO:0051645", + "HP:0003126", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "HP:0034359", + "UBERON:0000383", + "UPHENO:0051635", + "CHEBI:33674", + "UPHENO:0068058", + "CHEBI:50860" ], "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", - "Pain", - "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "increased level of protein polypeptide chain in urine", + "carboxamide", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "peptide", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "abnormal anatomical entity morphology in the independent continuant", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Growth abnormality", + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", - "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", - "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", - "decreased level of chemical entity in blood", - "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "increased level of nitrogen molecular entity in independent continuant", + "molecule", "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", + "amino acid", + "increased level of carboxylic acid in independent continuant", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of protein", + "nitrogen molecular entity", + "protein", + "Abnormal circulating enzyme concentration or activity", + "organic amino compound", + "alkaline phosphatase, tissue-nonspecific isozyme", + "macromolecule", + "organooxygen compound", + "heteroorganic entity", + "increased level of organic molecular entity in independent continuant", "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", + "monoatomic ion", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", + "decreased size of the anatomical entity", + "blood", + "inorganic ion", "abnormal homeostatic process", "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", + "main body axis", + "polypeptide", "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", + "anatomical structure", + "anatomical conduit", + "abnormal renal absorption", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", + "increased independent continuant base level", + "muscle organ", "anatomical entity dysfunction in independent continuant", - "abnormal musculature", - "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", - "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", - "Abnormality of urine homeostasis", + "rac-lactic acid", + "abnormality of anatomical entity height", + "metal atom", + "abnormal blood potassium atom level", + "increased level of rac-lactic acid in urine", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "chemical substance", "Aciduria", "Abnormality of the urinary system", "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", - "abnormality of renal system physiology", - "quality", - "abnormal amino-acid betaine level", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", - "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", - "abnormal cell", + "phosphate ion homeostasis", + "racemate", "increased level of chemical entity in urine", "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", + "abnormal chemical homeostasis", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "heteroatomic molecular entity", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "potassium atom", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", + "process", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "Metabolic acidosis", + "All", + "material entity", + "Acidosis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "Phenotypic abnormality", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", + "increased level of chemical entity in independent continuant", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", "Abnormal bone structure", + "anatomical system", + "potassium(1+)", "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "homeostatic process", + "Abnormal enzyme concentration or activity", "Abnormal muscle physiology", "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "organochalcogen compound", + "abnormal anatomical entity", + "renal system", + "phenotype", + "hydrogen molecular entity", + "nephron tubule", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "decreased level of potassium atom in blood", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "abnormal urine glucose level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", + "main group element atom", + "skeletal system", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "genitourinary system", + "atom", + "renal tubule", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system process", + "multicellular anatomical structure", + "pnictogen molecular entity", + "obsolete monovalent inorganic cation homeostasis", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal genitourinary system", "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", - "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", + "organ system subdivision", "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", - "decreased level of chemical entity", - "abnormal phosphate level", - "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", - "delayed biological_process", + "bone element", "abnormal growth", - "abnormal blood uric acid level", - "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", - "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", + "independent continuant", + "abnormality of muscle organ physiology", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "occurrent", + "organ", + "chemical homeostasis", + "increased independent continuant acid level", + "chemical entity", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "abnormal biological_process", + "abnormal role bodily fluid level", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "inorganic cation", + "increased level of chemical entity", + "renal absorption", + "carbon group molecular entity", + "metabolic process", + "material anatomical entity", + "muscle structure", + "Abnormality of the urinary system physiology", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "polyatomic entity", + "ion", + "phosphorus molecular entity", + "trunk", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "multicellular organismal process", + "abnormal blood phosphate level", + "abnormal protein level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", + "abdomen element", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "Elevated circulating alkaline phosphatase concentration", + "abnormality of kidney physiology", + "main group molecular entity", + "biomacromolecule", + "p-block molecular entity", + "haemolymphatic fluid", + "Renal tubular dysfunction", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", + "Short stature", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "carbohydrates and carbohydrate derivatives", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "nephron epithelium", + "uriniferous tubule", + "musculoskeletal system", + "abnormal upper urinary tract", + "organism subdivision", + "hematopoietic system", + "multicellular organism", + "Impaired renal tubular reabsorption of phosphate", + "excretory tube", + "lateral structure", + "trunk region element", + "Abnormality of the kidney", + "abdomen", + "subdivision of organism along main body axis", + "chalcogen molecular entity", + "Abnormal renal physiology", + "abnormal kidney", + "increased level of glucose in urine", + "body proper", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "oxoacid derivative", + "increased level of phosphate in urine", + "Abnormal blood cation concentration", + "abnormal blood potassium(1+) level", + "musculature", + "decreased role blood level", + "monovalent inorganic cation", + "abnormal role independent continuant level", + "metal cation", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "s-block element atom", + "s-block molecular entity", "Hypokalemia", - "Decreased circulating purine concentration" + "Abnormal blood monovalent inorganic cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "elemental potassium", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "abnormal phosphate level", + "decreased level of chemical entity", + "system process", + "abnormal independent continuant amino acid level", + "renal system process", + "anatomical entity", + "Abnormal renal tubular resorption", + "abnormal independent continuant chemical entity level", + "Abnormality of renal excretion", + "increased level of glucose in independent continuant", + "monosaccharide", + "organic molecular entity", + "oxygen molecular entity" ], - "has_phenotype_count": 39, + "has_phenotype_count": 16, "highlight": null, "score": null }, @@ -7836,363 +12160,676 @@ ], "has_phenotype_closure": [ "UPHENO:0012541", + "HP:0001510", "UPHENO:0000543", - "HP:0004322", + "UPHENO:0081424", + "UPHENO:0049874", "HP:0000002", + "GO:0040007", "HP:0001507", - "UPHENO:0068971", - "UPHENO:0081423", - "UPHENO:0088162", + "CL:0000329", + "HP:0012130", "HP:0001877", - "HP:0001903", - "UPHENO:0088170", - "HP:0011017", + "UPHENO:0088162", + "CL:0000764", "UPHENO:0078606", - "UPHENO:0049587", - 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"UPHENO:0086049", - "BFO:0000001", - "UPHENO:0035025", - "UPHENO:0088321", - "UPHENO:0085068", - "HP:0001939", - "UPHENO:0088335", + "GO:0031052", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "UPHENO:0050116", "UPHENO:0050113", - "HP:0000929", - "HP:0005528", - "HP:0032309", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0076799", - "UPHENO:0006910", - "UPHENO:0051804", - "HP:0012639", - "UPHENO:0085144", - "UPHENO:0086045", + "CHEBI:36963", + "GO:0031323", + "UBERON:0011138", + "UPHENO:0000541", + "HP:0001874", + "UBERON:0002204", + "HP:0000240", + "UBERON:0000475", + "HP:0025354", + "UPHENO:0082943", + "PATO:0000001", + "HP:0000152", "UPHENO:0086016", - "HP:0003221", - "UPHENO:0085356", - "UPHENO:0076702", - "UPHENO:0085302", + "NCBITaxon:2759", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "HP:0004322", + "UBERON:0003129", + "HP:0002060", + "CL:0000988", + "UPHENO:0081435", + "HP:0010987", + "HP:0000924", + "GO:0016043", + "HP:0002011", + 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"HP:0010987", - "HP:0000924", - "UPHENO:0081435", - "UPHENO:0080079", - "HP:0001873", - "HP:0000252", + "UPHENO:0075220", + "UPHENO:0051936", + "OBI:0100026", "UPHENO:0087518", + "UPHENO:0075159", "HP:0100547", - "UPHENO:0046378", - "UPHENO:0002964", - "UPHENO:0001002", - "UPHENO:0002844", - "HP:0025461", - "UPHENO:0085189", + "UPHENO:0076799", + "UBERON:0000481", + "GO:0006725", + "UBERON:0001893", "UPHENO:0080200", - "HP:0006254", - "UPHENO:0081566", + "UBERON:0001890", + "UPHENO:0087907", + "UPHENO:0002964", + "UPHENO:0086172", + "HP:0000707", + "CHEBI:33304", + "UBERON:0013702", + "HP:0001873", + "NCBITaxon:33154", + "HP:0033127", + "UPHENO:0076702", + "HP:0001903", + "UBERON:0005944", + "UPHENO:0088176", + "UBERON:0034925", + "NCBITaxon:131567", + "UBERON:0001434", + "CL:0000225", + "UBERON:0010912", + "HP:0000929", + "UBERON:0000955", + "UBERON:0000073", + "NCBITaxon:6072", + "UPHENO:0086173", + "UPHENO:0084987", + "UPHENO:0048707", + "CL:0000232", "HP:0011873", - "UPHENO:0051612", - "UPHENO:0080352", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0085405", - "HP:0011875", - "UPHENO:0075159", - "UPHENO:0087339", + "CL:0000151", + "UPHENO:0086049", + "HP:0011017", + "PR:000000001", + "UPHENO:0085302", + "UPHENO:0051668", + "CHEBI:33579", "UPHENO:0087355", + "UPHENO:0049873", + "UBERON:0000153", "HP:0005561", - "HP:0025354", - "UPHENO:0082943", + "UPHENO:0087339", + "UPHENO:0085195", + "GO:0006259", + "UBERON:0001474", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0035025", + "UBERON:0000479", + "HP:0005528", + "HP:0020047", + "CL:0002092", + "UBERON:0002371", + "UPHENO:0046284", + "UPHENO:0085330", + "GO:0008152", + "CHEBI:33839", + "CHEBI:16670", + "UPHENO:0020888", + "UPHENO:0077813", + "GO:0008150", + "UPHENO:0077826", + "PR:000003809", + "UPHENO:0076289", + "CHEBI:50047", + "UBERON:0006314", + "CHEBI:36080", "UPHENO:0051763", - "UPHENO:0084987", - "UPHENO:0048707", - "HP:0012130", - "UPHENO:0046362" + "UBERON:0001016", + "CHEBI:36357", + "UPHENO:0077821", + "UBERON:0000463", + "CHEBI:50860", + "CHEBI:25806", + "HP:0004364", + "HP:0010876", + "CHEBI:33694", + "CHEBI:16541", + "UPHENO:0068971", + "CHEBI:33695", + "UPHENO:0051801", + "BFO:0000015", + "UBERON:0002616", + "UPHENO:0048751", + "UBERON:0001017", + "UPHENO:0081547", + "CHEBI:33675", + "UPHENO:0046378", + "NCBITaxon:1", + "CHEBI:33302", + "UBERON:0000465", + "CHEBI:33582", + "CL:0000081", + "CHEBI:35352", + "UPHENO:0085068", + "CHEBI:32988", + "GO:0009987", + "CHEBI:33285" ], "has_phenotype_closure_label": [ - "abnormal growth", - "decreased size of the multicellular organism", - "delayed biological_process", - "Growth delay", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "Abnormality of body height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "Abnormality of chromosome stability", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Abnormal erythrocyte morphology", - "Abnormal cellular physiology", - "abnormal biological_process", - "abnormal primary metabolic process", - "abnormal protein level", - "abnormal independent continuant protein polypeptide chain level", - "abnormal cellular metabolic process", - "increased level of alpha-fetoprotein", - "increased level of chemical entity", - "abnormal blood protein polypeptide chain level", - "abnormal blood nitrogen molecular entity level", - "abnormal role bodily fluid level", - "abnormal blood alpha-fetoprotein level", - "abnormally decreased number of anatomical entity in the independent continuant", - "Neutropenia", - "abnormal blood chemical entity level", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "abnormal erythrocyte morphology", - "Elevated circulating alpha-fetoprotein concentration", - "abnormally decreased number of anatomical entity", - "Abnormality of the immune system", - "Abnormal leukocyte count", - "abnormal granulocyte morphology", "delayed growth", - "Decreased head circumference", - "abnormal DNA metabolic process", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of myeloid cell", - "Abnormal circulating alpha-fetoprotein concentration", - "abnormal alpha-fetoprotein level", - "abnormal central nervous system morphology", - "aplasia or hypoplasia of anatomical entity", - "abnormal immune system", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "Abnormal cerebral morphology", - "abnormal independent continuant protein level", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of skull size", - "Abnormality of neutrophils", - "abnormally decreased number of cell in the independent continuant", - "phenotype", - "quality", - "Growth abnormality", - "abnormal cellular process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal craniocervical region", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "Short stature", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal head morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "abnormal neutrophil", - "Abnormal cell morphology", - "abnormal myeloid leukocyte morphology", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "Growth delay", + "abnormality of anatomical entity height", + "Short stature", + "decreased size of the multicellular organism", + "delayed biological_process", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Abnormal erythrocyte morphology", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "abnormal cellular metabolic process", + "negative regulation of biosynthetic process", + "protein-DNA complex organization", "abnormal cellular component organization", - "specifically dependent continuant", - "Abnormal circulating organic compound concentration", - "abnormal immune system morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "Thrombocytopenia", - "Abnormal forebrain morphology", - "Anemia", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "nucleobase-containing compound metabolic process", + "obsolete cellular aromatic compound metabolic process", + "cellular component organization", + "regulation of biological process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular component organization or biogenesis", + "abnormal primary metabolic process", + "programmed DNA elimination", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "abnormal anatomical entity morphology in the brain", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "Microcephaly", + "Aplasia/Hypoplasia involving the central nervous system", + "cellular organisms", + "polyatomic entity", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "regional part of nervous system", + "forebrain", + "abnormal craniocervical region morphology", + "subdivision of skeleton", + "Abnormality of brain morphology", + "skull", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "information biomacromolecule", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of the skeletal system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "multi-tissue structure", + "immune system", + "myeloid cell", + "hematopoietic cell", + "eukaryotic cell", + "organism", + "anatomical system", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "organic molecular entity", + "aplasia or hypoplasia of anatomical entity", "Abnormality of the head", - "abnormal phenotype by ontology source", - "Abnormal cellular phenotype", - "phenotype by ontology source", - "abnormal leukocyte morphology", - "abnormally decreased number of cell", - "abnormal cell", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "cranial skeletal system", + "abnormally decreased number of myeloid cell in the independent continuant", + "abnormal immune system morphology", + "Eukaryota", + "Eumetazoa", + "Chromosomal breakage induced by crosslinking agents", + "Abnormal circulating organic compound concentration", + "nitrogen molecular entity", + "chromatin organization", "Abnormal nervous system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic system", - "entity", - "Abnormality of blood and blood-forming tissues", - "abnormal cell morphology", - "abnormal size of skull", - "abnormally decreased number of hematopoietic cell", - "abnormal head", - "abnormal bone marrow morphology", + "abnormal cell", + "oxygen accumulating cell", + "protein", + "abnormally decreased number of cell", + "oxygen molecular entity", + "skeleton", + "bone marrow", + "neutrophil", + "cell", + "Morphological central nervous system abnormality", + "root", + "organonitrogen compound", + "chemical entity", "abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "Abnormal myeloid cell morphology", + "Abnormal granulocyte morphology", + "Abnormal leukocyte count", + "decreased size of the anatomical entity in the independent continuant", + "secretory cell", + "abnormal myeloid leukocyte morphology", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal skull morphology", + "increased level of protein", + "mesoderm-derived structure", + "macromolecule", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "quality", + "Abnormal cell morphology", + "phenotype", + "anatomical entity", + "anatomical structure", + "organism subdivision", "abnormally decreased number of leukocyte in the independent continuant", + "abnormal hematopoietic cell morphology", + "abnormal size of multicellular organism", + "bone element", + "abnormally decreased number of leukocyte", + "brain", "abnormal anatomical entity morphology in the independent continuant", "Abnormal neutrophil count", + "Abnormality of neutrophils", + "Abnormality of skull size", + "multicellular anatomical structure", + "skeletal system", + "motile cell", + "abnormally decreased number of hematopoietic cell", + "pnictogen molecular entity", + "Elevated circulating alpha-fetoprotein concentration", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "abnormal alpha-fetoprotein level", + "material entity", + "organic amino compound", + "Abnormal cellular phenotype", + "abnormal phenotype by ontology source", + "erythrocyte", + "organ system subdivision", "abnormal blood cell", - "All", - "continuant", - "abnormal craniocervical region morphology", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal cellular immune system morphology", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of telencephalon", - "decreased size of the anatomical entity in the independent continuant", - "abnormal telencephalon morphology", - "Abnormal leukocyte morphology", - "abnormal brain morphology", - "Abnormal skull morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal myeloid leukocyte morphology", - "Abnormality of brain morphology", - "Abnormal circulating metabolite concentration", - "Abnormality of head or neck", - "Morphological central nervous system abnormality", - "decreased height of the multicellular organism", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "abnormal postcranial axial skeleton morphology", + "disconnected anatomical group", + "abnormal hematopoietic system", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "abnormal immune system", + "abnormally decreased number of cell in the independent continuant", + "Neutropenia", "abnormal number of anatomical enitites of type neutrophil", "abnormal nervous system", - "abnormal bone marrow cell", - "abnormal chromatin organization", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", + "nucleate cell", + "postcranial axial skeletal system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "growth", + "abnormally decreased number of anatomical entity in the independent continuant", + "serotonin secreting cell", + "abnormal growth", + "independent continuant", + "abnormal leukocyte morphology", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "negative regulation of macromolecule biosynthetic process", + "abnormal number of anatomical enitites of type granulocyte", + "non-connected functional system", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormal DNA metabolic process", + "blood cell", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "anatomical collection", + "All", + "abnormal granulocyte morphology", + "abnormal craniocervical region", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "anucleate cell", + "regulation of cellular biosynthetic process", + "biological regulation", + "hematopoietic system", + "multicellular organism", + "primary amide", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "granulocyte", + "hemolymphoid system", + "abnormal blood alpha-fetoprotein level", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of head or neck", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "central nervous system", + "regional part of brain", + "nervous system", + "musculoskeletal system", + "craniocervical region", + "haemolymphatic fluid", "decreased size of the anatomical entity", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "Abnormality of the skeletal system", + "blood", + "axial skeletal system", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", "abnormal skeletal system", + "abnormal postcranial axial skeleton morphology", + "abnormal cell morphology", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "abnormal bone marrow morphology", + "subdivision of organism along main body axis", + "main body axis", + "regulation of macromolecule biosynthetic process", + "abnormally decreased number of granulocyte", + "Abnormal circulating metabolite concentration", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "abnormal erythroid lineage cell morphology", - "increased level of protein", - "abnormal skull morphology", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", + "Metazoa", + "abnormal biological_process", + "abnormal role bodily fluid level", + "abnormal size of skull", + "Decreased head circumference", + "abnormal telencephalon morphology", + "body proper", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "amino acid chain", + "Opisthokonta", + "cellular metabolic process", + "biogenic amine secreting cell", + "abnormal blood chemical entity level", "abnormally decreased number of platelet", "abnormal number of anatomical enitites of type platelet", - "abnormal platelet morphology", - "Abnormal platelet count", "abnormal platelet", - "Abnormality of thrombocytes", + "Anemia", + "abnormal bone marrow cell", + "negative regulation of cellular metabolic process", "abnormal bone marrow cell morphology", - "Bone marrow hypocellularity", + "bone marrow cell", + "abnormal blood protein polypeptide chain level", "Abnormality of bone marrow cell morphology", + "bone cell", + "polypeptide", "abnormal hematopoietic system morphology", - "abnormal number of anatomical enitites of type anatomical entity", + "Bone marrow hypocellularity", + "skeletal element", + "Abnormal cellular physiology", + "organic substance metabolic process", + "increased level of chemical entity", + "metabolic process", + "continuant", + "protein polypeptide chain", + "peptide", "Abnormality of multiple cell lineages in the bone marrow", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "Abnormal circulating nitrogen compound concentration", + "chalcogen molecular entity", + "abnormal independent continuant alpha-fetoprotein level", + "abnormal independent continuant protein level", "abnormal role blood level", "Abnormality of metabolism/homeostasis", + "abnormal blood nitrogen molecular entity level", + "organ", + "occurrent", + "organism substance", + "bodily fluid", + "Abnormal platelet morphology", + "heteroorganic entity", + "alpha-fetoprotein", + "DNA metabolic process", + "carboxamide", + "increased level of alpha-fetoprotein", + "Abnormality of blood and blood-forming tissues", + "molecular entity", + "abnormal role independent continuant level", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormal head morphology", + "abnormal independent continuant protein polypeptide chain level", + "p-block molecular entity", + "biomacromolecule", + "abnormal chemical entity level", + "Abnormal circulating alpha-fetoprotein concentration", "abnormal multicellular organism chemical entity level", + "entity", + "subdivision of skeletal system", "Abnormal circulating protein concentration", - "abnormal independent continuant alpha-fetoprotein level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "abnormal chemical entity level", - "abnormal role independent continuant level" + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "abnormal protein level", + "obsolete cell", + "head", + "amide", + "platelet", + "organooxygen compound", + "organochalcogen compound", + "abnormal programmed DNA elimination by chromosome breakage", + "cellular process", + "main group molecular entity", + "negative regulation of cellular biosynthetic process" ], "has_phenotype_count": 8, "highlight": null, @@ -8228,10 +12865,10 @@ "has_phenotype": [ "HP:0040012", "HP:0000086", + "HP:0002984", "HP:0009777", "HP:0011835", "HP:0000252", - "HP:0002984", "HP:0001510", "HP:0003974", "HP:0001643", @@ -8241,10 +12878,10 @@ "has_phenotype_label": [ "Chromosome breakage", "Ectopic kidney", + "Hypoplasia of the radius", "Absent thumb", "Absent scaphoid", "Microcephaly", - "Hypoplasia of the radius", "Growth delay", "Absent radius", "Patent ductus arteriosus", @@ -8252,616 +12889,1182 @@ "Aplasia of the 1st metacarpal" ], "has_phenotype_closure": [ - "HP:0005914", - "HP:0010048", - "HP:0009659", - "HP:0009851", - "UPHENO:0080191", - "HP:0010026", - "HP:0010035", - "HP:0010009", - "UPHENO:0084458", + "UBERON:0015043", + "UBERON:0002374", + "UBERON:0003221", + "UBERON:0003821", + "UBERON:0012357", + "UBERON:0010546", + "HP:0009658", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5106048", + "UBERON:0010688", "HP:0005918", - "UPHENO:0026055", - "UPHENO:0080168", - "UPHENO:0081515", - "HP:0010242", + "HP:0009767", + "UPHENO:0084458", "UPHENO:0025593", "UPHENO:0076755", - "HP:0009802", - "UPHENO:0021800", - "HP:0009602", - "UPHENO:0081455", - "HP:0012638", - "UPHENO:0080555", - "UPHENO:0002433", - "UPHENO:0082875", - "UPHENO:0080556", - "HP:0012799", - "UPHENO:0078730", - "UPHENO:0081700", - "UPHENO:0081709", - "HP:0006824", + "UPHENO:0009400", + "HP:0010048", + "UBERON:5101463", + "UPHENO:0021840", + "HP:0005916", + "HP:0009834", + "UPHENO:0080164", + "UBERON:0002234", + "UBERON:0004302", + "UBERON:0009877", + "UBERON:0002544", + "UBERON:0005451", + "UPHENO:0081466", + "UBERON:0000467", + "UBERON:0001423", + "HP:0011603", + "UBERON:0003460", + "UPHENO:0001002", + "UBERON:0015061", + "UBERON:0003129", + "UBERON:0011582", + "UBERON:0004708", + "UBERON:0004572", + "UBERON:0012139", + "UPHENO:0012541", + "UBERON:0012150", + "GO:0090304", + "UBERON:0014395", + "UPHENO:0046540", + "UBERON:0000477", + "UPHENO:0080114", + "HP:0001167", + "HP:0040064", + "HP:0009810", + "UBERON:0003606", + "HP:0033127", + "UBERON:0001630", + "UPHENO:0081313", + "HP:0011842", + "UPHENO:0075696", + "HP:0006502", + "HP:0010035", + "UBERON:0000075", + "UPHENO:0069294", + "UPHENO:0080126", + "HP:0011844", + "GO:0009892", "UPHENO:0087369", - "HP:0010628", - "UPHENO:0026144", - "UPHENO:0076729", - "HP:0009825", - "HP:0001191", - "HP:0009121", - "HP:0033353", - "HP:0009823", - "UPHENO:0087334", - "HP:0002011", - "UPHENO:0001001", + "UBERON:0001033", + "UBERON:0004461", + "UBERON:0007272", + "UPHENO:0009338", + "UBERON:0004537", + "UPHENO:0076765", + "HP:0009822", + "UPHENO:0076727", + "UPHENO:0012274", + "UBERON:0002113", + "UBERON:0003645", + "HP:0011314", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "HP:0031910", + "UBERON:0001460", + "GO:0040007", + "UBERON:0015063", + "HP:0009826", + "UBERON:0010708", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0020584", - "HP:0002813", - "UPHENO:0080099", - "HP:0007364", - "UPHENO:0002964", - "UPHENO:0087349", + "UBERON:0007798", + "UBERON:0002091", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0002201", + "HP:0006824", + "UBERON:0010712", + "UBERON:0019231", + "UPHENO:0002844", + "HP:0006503", + "UPHENO:0086956", + "UBERON:0018254", + "RO:0002577", + "UBERON:0000073", + "UPHENO:0076724", "UPHENO:0081451", - "UPHENO:0081511", - "HP:0001155", - "HP:0005922", - "UPHENO:0004508", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0016527", - "UPHENO:0022529", - "UPHENO:0080173", - "UPHENO:0031839", + "UBERON:0003466", + "UPHENO:0026183", + "HP:0040070", + "UBERON:0008785", + "GO:0010558", + "GO:0048519", + "UBERON:0006058", + "UBERON:0010363", + "GO:0044237", + "HP:0010009", + "HP:0002977", + "UBERON:0001647", + "HP:0009824", + "UBERON:0010538", + "UBERON:0000061", + "GO:1901360", + "UPHENO:0026001", + "HP:0100547", + "UBERON:0005985", + "UPHENO:0075195", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0076703", + "HP:0003974", + "UPHENO:0081204", + "UBERON:0002102", + "UBERON:0004710", + "UPHENO:0084448", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0009341", + "UPHENO:0079872", + "UPHENO:0081091", + "UPHENO:0076710", "HP:0009601", + "UBERON:0003607", "HP:0100542", - "HP:0001507", - "UPHENO:0025945", - "UPHENO:0080114", + "UBERON:0000916", + "UBERON:0011249", + "UPHENO:0026028", + "UBERON:0002529", + "UBERON:0004905", + "UBERON:0001008", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0050021", + "UBERON:0034925", + "UPHENO:0050121", + "HP:0002984", + "GO:0031327", + "HP:0009821", + "UBERON:0010912", + "HP:0040072", + "GO:0010556", + "PR:000050567", + "HP:0009815", + "UPHENO:0033572", + "BFO:0000002", + "HP:0005914", + "HP:0012639", + "UPHENO:0049700", + "UBERON:0010544", + "HP:0005927", + "GO:0009890", + "UPHENO:0031839", + "GO:0006259", + "UBERON:0001474", + "UBERON:0001981", + "UPHENO:0082875", + "GO:0006139", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0049990", + "GO:0006807", "UPHENO:0006910", - "UPHENO:0084761", - "UPHENO:0081566", + "UPHENO:0049873", + "UBERON:0000153", + "UBERON:0009880", + "UPHENO:0002678", + "UPHENO:0025701", + "UBERON:5006048", + "GO:0005623", + "UBERON:0000955", + "UBERON:0010703", + "GO:0009987", + "GO:0071824", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0009659", + "UBERON:5002389", + "UPHENO:0087496", + "BFO:0000003", + "UBERON:0012358", + "CL:0000000", + "HP:0002818", + "HP:0002813", + "GO:0071840", + "UBERON:0004770", + "UBERON:0001015", + "UBERON:0000465", + "UBERON:0008229", + "UBERON:0010959", + "GO:0031052", + "GO:0031323", + "UBERON:0002513", + "UBERON:0011138", + "GO:0031324", + "UBERON:0002100", + "UPHENO:0002320", + "GO:0065007", + "HP:0002817", + "UPHENO:0001001", + "GO:0044238", + "GO:0010629", + "HP:0001626", + "GO:0071704", + "GO:0009889", + "UBERON:0017750", + "HP:0030680", + "GO:0006325", + "UBERON:0003103", + "HP:0000077", + "UPHENO:0002905", "HP:0003026", - "UPHENO:0011498", - "HP:0004243", - "UPHENO:0002696", - "UPHENO:0068971", - "UPHENO:0087309", - "UPHENO:0084763", - "UPHENO:0086633", + "UBERON:0005172", "UPHENO:0002803", "UPHENO:0002832", - "UPHENO:0008523", - "UPHENO:0087518", - "HP:0009380", - "UPHENO:0084448", - "HP:0009824", - "HP:0009115", - "UPHENO:0080079", - "HP:0011844", - "UPHENO:0087501", - "HP:0009658", - "HP:0000924", - "HP:0009834", - "UPHENO:0081435", - "UPHENO:0002830", - "UPHENO:0079870", - "UPHENO:0086700", - "UPHENO:0078606", - "HP:0000001", - "HP:0025354", - "HP:0009821", - "UPHENO:0002973", - "HP:0000301", - "UPHENO:0080126", - "UPHENO:0076799", - "UPHENO:0080187", + "UPHENO:0086633", + "UPHENO:0050845", "HP:0001939", - "HP:0010827", - "HP:0000271", - "HP:0003019", - "HP:0004231", - "UPHENO:0076727", - "UPHENO:0001003", - "UPHENO:0050121", - "HP:0040070", - "HP:0000707", - "UPHENO:0086172", - "UPHENO:0005116", - "UPHENO:0076779", - "UPHENO:0002816", - "UPHENO:0053580", - "UPHENO:0079876", - "UPHENO:0050116", - "UPHENO:0049367", - "HP:0040068", - "UPHENO:0026183", - "UPHENO:0021840", + "GO:0006996", + "GO:0046483", + "UPHENO:0084766", + "BFO:0000004", + "UBERON:0001434", + "HP:0006496", + "GO:0031326", + "UPHENO:0084763", + "UPHENO:0087309", + "UBERON:0004122", + "UPHENO:0080083", "HP:0010935", - "UPHENO:0001002", - "HP:0011297", - "UPHENO:0076723", - "UPHENO:0049748", - "HP:0011017", + "HP:0000301", + "UBERON:0010741", + "UBERON:0002101", + "HP:0000152", + "UBERON:0013701", + "GO:0050789", "HP:0000079", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", + "UPHENO:0026128", + "GO:0048523", + "UBERON:0004120", + "UPHENO:0076779", + "UBERON:5001463", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0001005", + "HP:0040195", + "HP:0000086", + "UBERON:0034713", + "HP:0000707", + "UPHENO:0049748", + "UBERON:0002075", + "GO:0031049", "UPHENO:0050113", + "GO:0060255", + "UPHENO:0076740", + "GO:0008150", + "UPHENO:0020888", + "UPHENO:0049367", + "UPHENO:0050116", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010314", "HP:0000929", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0002708", - "UPHENO:0084447", - "UPHENO:0002320", - "UPHENO:0050021", - "HP:0045060", - "HP:0001291", - "UPHENO:0053588", - "UPHENO:0081524", - "HP:0006496", - "UPHENO:0009400", - "BFO:0000001", - "UPHENO:0050845", - "UPHENO:0025701", - "BFO:0000020", - "UPHENO:0026028", - "PATO:0000001", - "HP:0000086", + "GO:0034641", + "GO:0008152", + "UPHENO:0087501", + "GO:0006725", + "UBERON:0001893", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0076767", + "UBERON:0011250", + "UBERON:0013700", + "GO:0019222", + "HP:0025354", + "GO:0050794", "HP:0003220", - "HP:0001367", - "UPHENO:0081755", - "UPHENO:0081466", - "HP:0040012", - "HP:0002973", - "UPHENO:0087496", - "UPHENO:0076724", - "UPHENO:0002678", - "UPHENO:0049873", - "HP:0001510", - "HP:0001172", - "HP:0030962", - "UPHENO:0002961", - "HP:0000118", - "HP:0011804", - "UPHENO:0026506", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", "UPHENO:0002536", "UPHENO:0076692", - "UPHENO:0009399", - "UPHENO:0080325", + "HP:0045060", + "UBERON:0012151", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0002470", + "UPHENO:0081790", + "UBERON:0001577", + "UBERON:0011143", + "UPHENO:0053580", + "UPHENO:0002816", + "UBERON:0005173", + "UPHENO:0087427", + "UPHENO:0002332", + "UBERON:0010758", + "UBERON:8450002", + "UBERON:0000062", + "UBERON:0004765", + "UPHENO:0053588", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002417", + "UPHENO:0026144", + "UBERON:0005090", + "UBERON:0005178", + "UBERON:0001444", + "UPHENO:0018390", + "UPHENO:0068971", + "UPHENO:0008668", + "UPHENO:0079876", + "GO:0043170", "UPHENO:0002642", + "UPHENO:0080325", "HP:0001627", - "UPHENO:0081790", - "UPHENO:0087006", - "UPHENO:0076767", - "UPHENO:0002896", - "UPHENO:0076791", - "UPHENO:0086589", + "UPHENO:0002880", + "UBERON:0012475", + "BFO:0000001", + "HP:0010628", + "UBERON:0010000", + "UBERON:0004716", + "UBERON:0008962", + "UBERON:0001463", "HP:0012210", - "UPHENO:0049990", - "UPHENO:0075902", - "UPHENO:0080160", - "HP:0002060", - "UPHENO:0026181", - "HP:0005916", + "UBERON:0002204", + "UBERON:0002090", + "HP:0030319", + "UPHENO:0026506", + "HP:0009602", + "HP:0011804", + "HP:0009380", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0076723", + "NCBITaxon:131567", + "HP:0040068", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0008523", + "UPHENO:0087518", + "OBI:0100026", + "UBERON:0001062", + "UBERON:0005881", + "UBERON:0015021", + "UBERON:0003509", + "UBERON:0004573", + "UBERON:0004381", + "UPHENO:0011498", + "UBERON:0004249", + "UBERON:0019221", + "UPHENO:0046538", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0013581", + "NCBITaxon:2759", + "HP:0005922", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0078606", "HP:0006265", - "HP:0006502", - "UPHENO:0075696", - "HP:0011842", - "UPHENO:0087089", - "UPHENO:0086635", - "HP:0033127", - "HP:0011805", + "UPHENO:0084761", + "UPHENO:0081455", + "HP:0011297", + "UPHENO:0046505", + "UBERON:0013768", "HP:0009777", + "HP:0011805", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0086700", + "UBERON:0005944", + "UBERON:0004452", + "HP:0001191", + "UBERON:0001427", + "UPHENO:0016527", + "HP:0001367", + "UBERON:0006716", + "UBERON:5102389", + "UPHENO:0075655", + "UBERON:0001480", "UPHENO:0026023", - "UPHENO:0076702", + "HP:0009823", + "HP:0004243", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0015078", + "UPHENO:0081524", + "UPHENO:0080173", + "UBERON:0000982", + "UPHENO:0002696", + "HP:0004231", + "HP:0003019", + "UPHENO:0020041", + "HP:0000271", + "HP:0010827", + "UPHENO:0002973", + "HP:0009825", "UPHENO:0009382", - "UPHENO:0087186", - "HP:0100547", - "UPHENO:0002880", - "UPHENO:0080362", + "UPHENO:0002961", + "HP:0030962", + "HP:0011835", + "UBERON:0000948", + "UPHENO:0015324", + "UBERON:0034921", + "GO:0010605", + "UBERON:0005897", + "UBERON:0015049", + "UBERON:0003656", + "UPHENO:0086589", + "UPHENO:0076791", + "UBERON:0007811", + "UPHENO:0087089", + "HP:0009121", + "HP:0000924", + "UBERON:0004121", + "UBERON:0000033", + "HP:0002060", + "UPHENO:0080160", + "HP:0009115", "UPHENO:0004523", - "HP:0001167", - "HP:0040064", - "HP:0009810", - "UPHENO:0001005", - "HP:0040195", - "HP:0009767", - "UPHENO:0075195", - "UPHENO:0002908", + "UPHENO:0080079", + "HP:0007364", + "UPHENO:0081521", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0076722", + "UBERON:0001017", + "UPHENO:0026181", + "UPHENO:0002964", "HP:0012443", - "HP:0002977", - "UPHENO:0002764", - "UPHENO:0076805", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "BFO:0000002", - "HP:0012639", - "UPHENO:0020888", - "UPHENO:0003587", + "UBERON:0002616", + "UBERON:0002049", + "UBERON:0001016", + "UBERON:5102544", + "UBERON:0004111", + "UBERON:0011137", "UPHENO:0075220", - "UPHENO:0076772", + "UBERON:0001890", + "UBERON:0015042", "UPHENO:0080200", - "UPHENO:0012274", - "HP:0011314", - "UPHENO:0081313", - "UPHENO:0087510", - "UPHENO:0087907", - "HP:0006501", - "HP:0009826", - "UPHENO:0009341", - "UPHENO:0046538", - "UPHENO:0081204", - "UPHENO:0026001", - "UPHENO:0081792", - "UPHENO:0080164", + "UPHENO:0076772", + "UPHENO:0002764", + "UPHENO:0076805", "HP:0000234", "UPHENO:0087018", - "HP:0006503", - "HP:0009815", - "UPHENO:0088186", - "UPHENO:0046505", - "HP:0040072", - "UPHENO:0081521", - "UPHENO:0002910", - "HP:0030319", - "UPHENO:0020041", - "UPHENO:0076710", - "UPHENO:0081091", - "UPHENO:0079872", - "UPHENO:0002751", - "UPHENO:0069294", - "HP:0002818", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0005773", - "HP:0031910", + "NCBITaxon:33154", + "HP:0000252", + "HP:0011799", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0004508", + "UPHENO:0081566", + "NCBITaxon:1", + "UBERON:0000481", + "UBERON:0010543", + "HP:0001507", + "UBERON:0001436", + "GO:0010468", "UPHENO:0000541", + "UBERON:0001456", + "UPHENO:0049874", + "HP:0002597", + "PATO:0000001", + "HP:0000759", "UPHENO:0000543", + "HP:0001510", + "UBERON:0004473", "HP:0003953", - "UPHENO:0076718", - "UPHENO:0015290", - "UPHENO:0076703", - "HP:0003974", - "HP:0009822", - "HP:0001626", - "UPHENO:0033572", - "HP:0011835", - "UPHENO:0015324", - "UPHENO:0075655", - "UPHENO:0009338", - "UPHENO:0076765", + "UPHENO:0009399", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0001637", + "UPHENO:0015280", + "UPHENO:0075902", + "GO:0016043", + "UPHENO:0080168", + "HP:0000118", + "UBERON:0003834", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000055", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UBERON:0002386", + "UBERON:0001435", + "UBERON:0005440", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0011779", + "UBERON:0004145", + "UPHENO:0076729", + "UPHENO:0081435", + "UPHENO:0087186", + "UPHENO:0080362", "HP:0025015", - "UPHENO:0086797", - "HP:0011603", + "HP:0033353", + "UBERON:0001009", + "UBERON:0012140", + "UBERON:0004571", "HP:0001643", - "UPHENO:0033603", - "UPHENO:0076810", - "HP:0030680", + "NCBITaxon:6072", "UPHENO:0076776", - "HP:0001324", + "UPHENO:0086797", + "UBERON:0012141", + "UBERON:0003513", + "UBERON:0011695", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0003498", + "UBERON:0006876", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "UBERON:0018674", + "UBERON:0013630", + "UBERON:0034923", + "HP:0010242", + "UBERON:0007100", + "UPHENO:0002908", + "UPHENO:0003587", + "UBERON:0000383", + "UPHENO:0021800", + "UBERON:0001785", + "UBERON:0014892", + "UPHENO:0080555", "HP:0045010", - "HP:0003011", - "UPHENO:0080083", - "HP:0000252", - "HP:0011799", - "UPHENO:0049874", - "HP:0002597", - "HP:0000759", - "UPHENO:0087427", - "UPHENO:0002332", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0002471", + "UPHENO:0081755", + "UPHENO:0078730", + "UPHENO:0081709", + "UBERON:0000122", + "HP:0001324", "HP:0410008", - "HP:0000240", - "UPHENO:0076722" + "UPHENO:0002433", + "UPHENO:0088186", + "UBERON:0009878", + "UBERON:0005162", + "UBERON:0001021", + "UPHENO:0002910", + "UPHENO:0080556", + "UBERON:0015789", + "HP:0003011", + "UBERON:0011216", + "UPHENO:0079870", + "HP:0001291", + "HP:0012799", + "HP:0012638", + "UBERON:0004453", + "UBERON:0002376", + "UBERON:0000010", + "UPHENO:0026055", + "UPHENO:0081515", + "HP:0009851", + "HP:0010026", + "UPHENO:0080191", + "HP:0009802" ], "has_phenotype_closure_label": [ - "abnormal metacarpal bone of digit 1 morphology", - "Aplasia of the 1st metacarpal", - "aplastic metacarpal bone of digit 1", - "Aplasia/Hypoplasia of the phalanges of the thumb", + "manual digit 1 phalanx endochondral element", + "manual digit 1 metacarpus endochondral element", + "metapodial skeleton", + "skeleton of digitopodium", + "abnormal phalanx of manus morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "Abnormality of thumb phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "manual digit metacarpus endochondral element", "absent metacarpal bone in the metacarpus region", - "aplastic phalanx of manus", + "Abnormal metacarpal morphology", + "Abnormal proximal phalanx morphology of the hand", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of proximal phalanx of manus", "Aplasia/Hypoplasia of the 1st metacarpal", - "Aplasia of the proximal phalanges of the hand", - "abnormal phalanx morphology", - "Abnormal metacarpal morphology", - "aplasia or hypoplasia of metacarpal bone of digit 1", - "absent metacarpal bone", - "Abnormality of thumb phalanx", - "Aplasia of metacarpal bones", - "aplasia or hypoplasia of metacarpal bone", - "aplasia or hypoplasia of phalanx of manus", - "Abnormality of the face", - "Abnormal peripheral nervous system morphology", - "Weakness of facial musculature", - "abnormal cranial nerve morphology", - "Abnormal skeletal muscle morphology", - "paralysed cranial nerve", - "absent carpal bone in the independent continuant", - "quality", - "abnormal skeletal joint morphology in the pectoral complex", - "Carpal bone aplasia", - "Abnormal joint morphology", - "Abnormal 1st metacarpal morphology", - "Aplasia/Hypoplasia involving the carpal bones", - "abnormal radiale", - "Abnormality of the urinary system", - "abnormal skeletal system", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "metapodium bone", + "digitopodium bone", + "skeleton of manual acropodium", + "metacarpal bone of digit 1", + "proximal phalanx of manus", "abnormal manual digit morphology in the independent continuant", - "Absent scaphoid", - "aplastic carpal bone", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormal manual digit 1 morphology", - "paralysed anatomical entity", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Abnormal axial skeleton morphology", + "organism", + "Finger aplasia", + "cardiovascular system", + "abnormal manus morphology", + "pectoral appendage skeleton", + "segment of manus", + "protein-containing material entity", + "Aplasia/hypoplasia involving bones of the extremities", + "skeleton of limb", + "Aplasia involving forearm bones", + "paired limb/fin skeleton", + "system", + "decreased size of the anatomical entity in the independent continuant", + "limb long bone", + "zeugopodial skeleton", + "peripheral nervous system", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "paired limb/fin segment", + "bone element", + "pectoral complex", + "trunk region element", + "head", + "Aplasia involving bones of the upper limbs", + "arm bone", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "Abnormal skeletal morphology", + "forelimb endochondral element", + "primary metabolic process", + "skeletal system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "forelimb zeugopod bone hypoplasia", + "endochondral bone", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "abnormal upper urinary tract", + "Limb undergrowth", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "craniocervical region", + "forelimb bone", + "anatomical entity hypoplasia", "Aplasia/hypoplasia of the extremities", - "abnormal anatomical entity morphology in the manus", - "Short long bone", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormally localised kidney", - "abnormal metacarpal bone morphology", - "Abnormality of limb bone", - "absent anatomical entity in the skeletal system", + "decreased size of the radius bone", + "Abnormal cellular phenotype", "abnormal autopod region morphology", - "Absent thumb", - "Aplasia/Hypoplasia of the phalanges of the hand", - "aplastic anatomical entity", - "abnormal vasculature", - "Abnormal digit morphology", - "Abnormality of the musculoskeletal system", - "Aplasia/Hypoplasia of fingers", - "Abnormal finger morphology", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "Abnormality of facial soft tissue", - "abnormal number of anatomical enitites of type anatomical entity", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal anatomical entity", + "skeleton", + "paired limb/fin", + "anatomical collection", + "All", + "Aplasia involving bones of the extremities", + "absent manual digit", + "abnormal phenotype by ontology source", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", "Abnormality of limb bone morphology", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", "Abnormality of limbs", - "abnormal skeletal joint morphology in the independent continuant", - "abnormal brain morphology", - "absent metacarpal bone in the independent continuant", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "Abnormal forebrain morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "Phenotypic abnormality", - "Aplasia/Hypoplasia of the thumb", - "phenotype", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood vessel", + "outflow tract", + "obsolete cellular aromatic compound metabolic process", + "abnormal facial muscle", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormal appendicular skeleton morphology", + "subdivision of organism along appendicular axis", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "facial nerve", + "limb", + "cell", + "Abnormality of the upper limb", + "radius endochondral element", + "manus", + "Upper limb undergrowth", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "abnormal size of anatomical entity", + "regulation of cellular process", + "digitopodium region", + "abnormal skeletal joint morphology in the pectoral complex", + "nucleobase-containing compound metabolic process", "absent digit", - "Absent forearm bone", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the metacarpus region", + "Abnormal morphology of the radius", + "abdomen element", + "obsolete nitrogen compound metabolic process", + "thoracic segment blood vessel", + "excretory system", + "circulatory system", + "zeugopod", + "skeletal element", + "renal system", + "Abnormal localization of kidney", + "biological_process", + "subdivision of skeletal system", + "entity", "abnormal nitrogen compound metabolic process", - "Abnormality of the hand", + "abdominal segment element", + "absent anatomical entity in the metacarpus region", + "Abnormal joint morphology", + "body proper", "abnormal peripheral nervous system", - "Aplasia/hypoplasia involving bones of the extremities", - "aplastic manual digit 1 phalanx", - "Abnormal muscle physiology", - "abnormal programmed DNA elimination by chromosome breakage", + "abnormal primary metabolic process", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "appendicular skeletal system", + "radiale", + "material anatomical entity", + "muscle structure", + "chromatin organization", "abnormal metabolic process", - "Abnormality of the skeletal system", - "absent anatomical entity in the limb", - "Abnormal forearm bone morphology", - "abnormal kidney morphology", - "abnormality of cranial nerve physiology", - "abnormal appendicular skeleton morphology", - "abnormal renal system morphology", - "abnormal location of anatomical entity", - "abnormal forelimb morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Abnormal proximal phalanx morphology of the hand", - "Finger aplasia", - "continuant", - "abnormal craniocervical region morphology", - "abnormal limb", - "abnormal biological_process", - "absent radiale", - "abnormal peripheral nervous system morphology", - "Abnormal cranial nerve morphology", - "absent anatomical entity in the multicellular organism", - "Abnormality of metabolism/homeostasis", - "abnormal organelle organization", - "Abnormality of the musculature", + "thoracic segment organ", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "appendicular skeleton", + "upper limb segment", + "organ", + "abnormality of nervous system physiology", "abnormal digit", - "abnormal nerve", - "absent manual digit", - "abnormal phenotype by ontology source", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal limb morphology", - "abnormal primary metabolic process", - "abnormal coronary vessel morphology", + "cellular organisms", + "thoracic segment of trunk", + "Abnormality of the musculature", + "short bone", + "abnormal organelle organization", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "protein-containing complex organization", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "independent continuant", + "abnormal growth", + "abnormal cellular process", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormality of facial musculature", + "articulation", + "regional part of nervous system", + "abnormally localised anatomical entity", + "nucleic acid metabolic process", + "process", + "Congenital malformation of the great arteries", "bone element hypoplasia in independent continuant", "Unilateral facial palsy", - "Patent ductus arteriosus", - "abnormal carpal region", - "Abnormal upper limb bone morphology", - "agenesis of anatomical entity", - "Abnormality of the scaphoid", - "abnormal manus morphology", - "abnormal cellular process", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal forelimb zeugopod morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "cellular metabolic process", + "abnormal cranial nerve morphology", + "forelimb zeugopod", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "continuant", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "acropodial skeleton", + "Abnormal muscle physiology", + "Phenotypic abnormality", + "regulation of macromolecule metabolic process", + "abnormal cellular component organization", + "compound organ", + "Abnormality of the peripheral nervous system", + "mesoderm-derived structure", + "autopod bone", + "thoracic cavity element", + "abnormal number of anatomical enitites of type anatomical entity", + "limb bone", + "Aplasia of the proximal phalanges of the hand", + "abnormal limb bone", + "Abnormal nervous system morphology", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "abnormal anatomical entity topology in independent continuant", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "regulation of gene expression", + "quality", + "forelimb zeugopod skeleton", + "proximal mesopodial bone", + "regulation of cellular biosynthetic process", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal kidney morphology", + "abnormal carpal bone morphology", + "musculature of face", + "cellular component organization", + "manual digit 1 or 5", + "negative regulation of metabolic process", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "bone of appendage girdle complex", "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "abnormal proximal phalanx of manus morphology", + "regulation of biosynthetic process", + "forelimb skeleton", + "genitourinary system", + "abnormal limb", + "negative regulation of cellular process", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Abnormality of cardiovascular system morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "carpal region", + "limb skeleton subdivision", + "skull", + "biological regulation", + "abdominal segment of trunk", + "abnormally localised kidney", + "phenotype by ontology source", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "arm", + "protein-DNA complex organization", + "abnormal systemic artery morphology", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "decreased length of forelimb zeugopod bone", + "phalanx of manus", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "Abnormality of the kidney", + "paralysed anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "aplastic manual digit 1 phalanx", + "muscle organ", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "macromolecule metabolic process", + "vascular system", "Ectopic kidney", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal carpal bone morphology", + "abnormal proximal phalanx of manus morphology", + "cavitated compound organ", + "abnormal brain morphology", + "acropodium region", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of the wrist", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "vasculature", "abnormal renal system", + "negative regulation of cellular biosynthetic process", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "regulation of biological process", + "arterial blood vessel", + "anatomical entity hypoplasia in independent continuant", + "skeletal musculature of head", + "anatomical system", + "appendage", + "root", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "abnormally localised anatomical entity in independent continuant", + "organ system subdivision", + "abnormal renal system morphology", + "aplastic carpal bone", + "nervous system", + "forelimb zeugopod bone", + "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "appendage girdle complex", + "subdivision of head", + "trunk", + "skeletal musculature", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "anterior region of body", + "aplastic anatomical entity", + "subdivision of organism along main body axis", + "abnormal appendicular skeleton morphology", + "abnormality of cranial nerve physiology", + "limb endochondral element", + "Short forearm", + "delayed biological_process", + "Aplasia/Hypoplasia of the thumb", + "aplastic manual digit 1", + "manual digit", + "phalanx", + "vasculature of organ", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "abdomen", + "manual digit 1 plus metapodial segment", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "subdivision of trunk", + "Abnormal thumb morphology", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "Aplasia of metacarpal bones", + "abnormal face", + "Facial palsy", + "digit", + "abnormal skeletal system", + "digit 1 plus metapodial segment", "abnormal ductus arteriosus morphology", - "Upper limb undergrowth", - "Abnormality of the upper urinary tract", - "absent forelimb zeugopod bone", - "Partial absence of thumb", - "decreased anatomical entity strength", - "abnormal forebrain morphology", - "Abnormal cranial nerve physiology", - "abnormal skull morphology", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", - "abnormality of muscle organ physiology", - "abnormal upper urinary tract", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the wrist", - "Growth abnormality", - "Abnormal localization of kidney", - "absent anatomical entity", - "abnormally localised anatomical entity in independent continuant", - "abnormal genitourinary system", - "Abnormal appendicular skeleton morphology", - "abnormally localised anatomical entity", - "Abnormal blood vessel morphology", - "absent carpal bone in the limb", - "abnormal limb bone morphology", - "entity", + "manual digit plus metapodial segment", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "digit plus metapodial segment", + "aplastic metacarpal bone of digit 1", + "abnormal manus", "aplasia or hypoplasia of manual digit 1", - "decreased length of anatomical entity", - "Muscle weakness", - "Abnormal carpal morphology", + "absent metacarpal bone", + "absent anatomical entity", + "carpal skeleton", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "absent metacarpal bone in the independent continuant", + "autopodial skeleton", + "skeleton of manus", + "abnormal anatomical entity morphology in the skeleton of manus", "Abnormality of upper limb joint", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormal cerebral morphology", - "abnormal carpal bone", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", + "negative regulation of biological process", + "articular system", + "multi organ part structure", + "abnormal carpal region", + "Patent ductus arteriosus", "aplasia or hypoplasia of carpal bone", "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "Aplasia/Hypoplasia involving the metacarpal bones", - "decreased size of the anatomical entity in the independent continuant", - "decreased muscle organ strength", - "Abnormality of skull size", - "abnormal head morphology", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", + "absent carpal bone in the independent continuant", + "Abnormality of the scaphoid", + "Carpal bone aplasia", + "absent radiale", + "systemic arterial system", "absent radius bone in the independent continuant", - "abnormal blood vessel morphology", - "abnormal incomplete closing of the anatomical entity", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormality of brain morphology", - "Abnormality of head or neck", + "proximal carpal bone", + "metacarpal bone", + "occurrent", + "absent carpal bone in the limb", + "Aplasia/Hypoplasia involving the carpal bones", + "skeletal joint", + "Absent scaphoid", + "digit 1", + "abnormal carpal bone", + "Abnormality of metabolism/homeostasis", "abnormal skeletal joint morphology", + "Abnormality of the urinary system", "Morphological central nervous system abnormality", - "Aplasia involving forearm bones", - "abnormal head", - "abnormal nervous system morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormality of chromosome stability", - "abnormal kidney", - "abnormal central nervous system morphology", - "aplasia or hypoplasia of manual digit 1 phalanx", - "abnormal long bone morphology", + "abnormal radiale", + "carpus endochondral element", + "Absent thumb", + "proximal mesopodial endochondral element", + "Abnormal carpal morphology", + "mesopodial skeleton", + "abnormal telencephalon morphology", + "bone of free limb or fin", + "mesopodium bone", + "negative regulation of gene expression", + "carpal bone", + "abnormal skeletal system morphology", + "proximal carpal endochondral element", + "abnormal head morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Short long bone", + "abnormal skull morphology", + "cranial neuron projection bundle", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "heart", + "organic substance metabolic process", "Abnormality of the head", + "abnormal limb morphology", + "anatomical conduit", + "autopod region", + "abnormal skeletal joint morphology in the independent continuant", + "Aplasia/Hypoplasia of the cerebrum", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "abnormal craniocervical region morphology", + "Abnormal skull morphology", + "abnormal metacarpal bone morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormality of skull size", + "decreased muscle organ strength", + "cranial skeletal system", + "Abnormality of head or neck", + "Aplasia/hypoplasia involving forearm bones", + "metapodium region", + "abnormal nervous system", + "abnormal musculature", + "Abnormality of limb bone", + "autopod endochondral element", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "regional part of brain", + "metacarpus skeleton", + "musculature", + "Growth abnormality", + "axial skeletal system", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "Limb undergrowth", - "decreased length of long bone", - "abnormal radius bone morphology", - "abnormal face", - "Aplasia/Hypoplasia of the radius", - "abnormal artery morphology in the independent continuant", - "anatomical entity hypoplasia in independent continuant", - "Abnormal heart morphology", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Aplasia involving bones of the upper limbs", - "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal incomplete closing of the ductus arteriosus", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Aplasia/Hypoplasia of the proximal phalanges of the hand", - "Abnormal cellular phenotype", - "decreased size of the radius bone", + "Abnormal hand morphology", + "Metazoa", + "heart vasculature", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "abnormal head", + "forelimb long bone", + "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "abnormal biological_process", + "kidney", + "Growth delay", + "lateral structure", + "vessel", + "delayed growth", + "abnormal cardiovascular system", "Absent radius", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", "absent radius bone in the forelimb", - "anatomical entity hypoplasia", - "absent radius bone", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "abnormal anatomical entity morphology in the heart", - "abnormal opening of the anatomical entity", - "abnormal phalanx of manus morphology", - "abnormal cardiovascular system morphology", + "arterial system", + "blood vasculature", + "abnormal incomplete closing of the anatomical entity", + "abnormal great vessel of heart morphology", + "abnormal arm", "Abnormal vascular morphology", - "radius bone hypoplasia", - "aplastic forelimb zeugopod bone", - "Abnormality of the vasculature", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", "abnormal heart morphology", - "abnormal vascular system morphology", - "delayed growth", - "abnormal cardiovascular system", - "Abnormal hand morphology", - "Abnormal morphology of the great vessels", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Aplasia of the phalanges of the hand", - "abnormal systemic artery morphology", - "Congenital malformation of the great arteries", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "abnormal great vessel of heart morphology", - "Facial palsy", - "aplasia or hypoplasia of proximal phalanx of manus", - "Abnormality of facial musculature", - "abnormal growth", - "Abnormal peripheral nerve morphology by anatomical site", - "Abnormal nervous system physiology", + "Abnormal blood vessel morphology", + "artery", + "abnormal genitourinary system", + "abnormal vasculature", + "Abnormal forearm morphology", "abnormal artery morphology", "abnormality of anatomical entity physiology", + "abnormal cell", + "disconnected anatomical group", + "anatomical cluster", + "negative regulation of macromolecule biosynthetic process", + "abnormal vascular system morphology", + "Abnormal heart morphology", + "viscus", + "conceptus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "abnormal limb long bone morphology", + "heart blood vessel", + "great vessel of heart", + "trunk blood vessel", + "organism subdivision", + "embryonic cardiovascular system", + "metapodium bone 1", + "abnormal blood vessel morphology", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "abnormal cardiovascular system morphology", + "abnormal artery morphology in the independent continuant", + "abnormal incomplete closing of the ductus arteriosus", + "coronary vessel", + "musculature of body", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "aplasia or hypoplasia of metacarpal bone", + "mesopodium region", + "systemic artery", + "decreased anatomical entity strength", + "phenotype", + "nerve of head region", + "absent anatomical entity in the independent continuant", + "Muscle weakness", + "Abnormal upper limb bone morphology", + "Abnormal peripheral nervous system morphology", + "abnormal muscle organ morphology", + "abnormal nerve", + "multi-tissue structure", + "abnormal peripheral nervous system morphology", + "neuron projection bundle", + "Abnormal skeletal muscle morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "skeletal muscle organ, vertebrate", + "abnormal metacarpal bone of digit 1 morphology", + "paralysed cranial nerve", + "craniocervical region musculature", + "axial musculature", + "craniocervical muscle", + "Abnormal cranial nerve morphology", + "Abnormality of the face", + "Abnormality of the cardiovascular system", "Abnormality of the seventh cranial nerve", "Cranial nerve paralysis", - "abnormal cellular component organization", - "Abnormality of the peripheral nervous system", - "abnormal muscle organ morphology", + "multi cell part structure", + "circulatory organ", + "cranial nerve", + "abnormal phalanx morphology", + "Abnormal cranial nerve physiology", + "Abnormality of the hand", + "radius bone", + "manus bone", "abnormal facial nerve", - "abnormal nervous system", - "abnormal musculature", - "Aplasia/hypoplasia involving forearm bones", - "abnormal facial muscle" + "facial muscle", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "Abnormal nervous system physiology", + "main body axis", + "gustatory system", + "cranial muscle", + "cranial or facial muscle", + "Hypoplasia of the radius", + "metacarpus region", + "decreased size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "aplasia or hypoplasia of phalanx of manus", + "abnormal anatomical entity morphology in the manus", + "proximal phalanx" ], "has_phenotype_count": 11, "highlight": null, diff --git a/frontend/fixtures/entity.json b/frontend/fixtures/entity.json index 48f859493..f8fb11a5b 100644 --- a/frontend/fixtures/entity.json +++ b/frontend/fixtures/entity.json @@ -15,7 +15,8 @@ "NCIT:C84910", "Orphanet:98473", "SCTID:73297009", - "UMLS:C0026850" + "UMLS:C0026850", + "icd11.foundation:1464662404" ], "provided_by": "phenio_nodes", "in_taxon": null, diff --git a/frontend/fixtures/histopheno.json b/frontend/fixtures/histopheno.json index e41c04d2d..e7b83a65e 100644 --- a/frontend/fixtures/histopheno.json +++ b/frontend/fixtures/histopheno.json @@ -3,62 +3,62 @@ "items": [ { "label": "musculature", - "count": 1677, + "count": 1709, "id": "UPHENO:0002816" }, { "label": "nervous_system", - "count": 1071, + "count": 1088, "id": "UPHENO:0004523" }, { "label": "head_neck", - "count": 577, + "count": 584, "id": "UPHENO:0002764" }, { "label": "skeletal_system", - "count": 471, + "count": 472, "id": "UPHENO:0002964" }, { "label": "eye", - "count": 287, + "count": 291, "id": "UPHENO:0003020" }, { "label": "metabolism_homeostasis", - "count": 213, + "count": 221, "id": "HP:0001939" }, { "label": "cardiovascular_system", - "count": 177, + "count": 181, "id": "UPHENO:0080362" }, { "label": "blood", - "count": 175, + "count": 178, "id": "UPHENO:0004459" }, { "label": "connective_tissue", - "count": 161, + "count": 162, "id": "UPHENO:0002712" }, { "label": "respiratory", - "count": 150, + "count": 155, "id": "UPHENO:0004536" }, { "label": "neoplasm", - "count": 148, + "count": 153, "id": "HP:0002664" }, { "label": "digestive_system", - "count": 142, + "count": 147, "id": "UPHENO:0002833" }, { diff --git a/frontend/fixtures/index.ts b/frontend/fixtures/index.ts index 84252f5e8..674e40af0 100644 --- a/frontend/fixtures/index.ts +++ b/frontend/fixtures/index.ts @@ -11,7 +11,7 @@ import nodePublicationAbstract from "./node-publication-abstract.json"; import nodePublicationSummary from "./node-publication-summary.json"; import node from "./node.json"; import phenotypeExplorerCompare from "./phenotype-explorer-compare.json"; -import phenotypeExplorerMulticompare from "./phenotype-explorer-multicompare.json"; +import phenotypeExplorerMulticompare from "./phenotype-explorer-multi-compare.json"; import phenotypeExplorerSearch from "./phenotype-explorer-search.json"; import search from "./search.json"; import textAnnotator from "./text-annotator.json"; diff --git a/frontend/fixtures/mappings.json b/frontend/fixtures/mappings.json index 1f7790af9..4fe0d407a 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": "99bc2073-c3e6-4847-8a65-a048c1479522" + "id": "328e6469-38b6-4164-8600-c65db822aa33" }, { "subject_id": "MONDO:0020121", @@ -19,7 +19,7 @@ "object_id": "ICD10CM:G71.0", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "7336a5b8-7020-4093-a545-9c51c297b3e0" + "id": "1acd8071-6f45-40eb-89f8-ae02ecfb407d" }, { "subject_id": "MONDO:0020121", @@ -28,7 +28,7 @@ "object_id": "NCIT:C84910", "object_label": "Muscular Dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "90d2f90f-e88e-472b-9420-bdae949b0af1" + "id": "8d184275-be2d-4347-b251-cfcd67b1904d" }, { "subject_id": "MONDO:0020121", @@ -37,7 +37,7 @@ "object_id": "Orphanet:98473", "object_label": "Muscular dystrophy", "mapping_justification": "semapv:UnspecifiedMatching", - "id": "8f59f1f9-6c11-4697-95a1-8e63f6f7e650" + "id": "31e70259-6046-41db-9465-6ec758611296" }, { "subject_id": "MONDO:0020121", @@ -46,7 +46,7 @@ "object_id": "SCTID:73297009", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "05f95761-5d65-44ae-8dde-1096e1db19f8" + "id": "07812dec-5dea-454e-8f4d-4384c41016ee" }, { "subject_id": "MONDO:0020121", @@ -55,7 +55,7 @@ "object_id": "UMLS:C0026850", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "20c55f80-e87d-4a95-99e5-c5128446fd63" + "id": "d6a3af5c-fa42-45db-9bc9-874a3ea155ee" }, { "subject_id": "MONDO:0020121", @@ -64,7 +64,7 @@ "object_id": "MESH:D009136", "object_label": null, "mapping_justification": "semapv:UnspecifiedMatching", - "id": "08b5cc3f-7aae-4849-a42b-481e832722fe" + "id": "5dcc14e6-0a43-4d02-acb9-e0b78a2e72d4" } ] } diff --git a/frontend/fixtures/node.json b/frontend/fixtures/node.json index c08f46433..52fc9016d 100644 --- a/frontend/fixtures/node.json +++ b/frontend/fixtures/node.json @@ -15,7 +15,8 @@ "NCIT:C84910", "Orphanet:98473", "SCTID:73297009", - "UMLS:C0026850" + "UMLS:C0026850", + "icd11.foundation:1464662404" ], "provided_by": "phenio_nodes", "in_taxon": null, @@ -103,6 +104,10 @@ { "id": "UMLS:C0026850", "url": "http://identifiers.org/umls/C0026850" + }, + { + "id": "icd11.foundation:1464662404", + "url": null } ], "provided_by_link": { @@ -112,17 +117,17 @@ "association_counts": [ { "label": "Phenotypes", - "count": 3859, + "count": 3932, "category": "biolink:DiseaseToPhenotypicFeatureAssociation" }, { "label": "Causal Genes", - "count": 119, + "count": 126, "category": "biolink:CausalGeneToDiseaseAssociation" }, { "label": "Correlated Genes", - "count": 139, + "count": 146, "category": "biolink:CorrelatedGeneToDiseaseAssociation" } ], @@ -197,9 +202,9 @@ ], "sub_classes": [ { - "id": "MONDO:0008028", + "id": "MONDO:0010311", "category": "biolink:Disease", - "name": "muscular dystrophy, Barnes type", + "name": "Becker muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -219,9 +224,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010311", + "id": "MONDO:0010675", "category": "biolink:Disease", - "name": "Becker muscular dystrophy", + "name": "muscular dystrophy, cardiac type", "full_name": null, "deprecated": null, "description": null, @@ -241,9 +246,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010675", + "id": "MONDO:0010676", "category": "biolink:Disease", - "name": "muscular dystrophy, cardiac type", + "name": "muscular dystrophy, Hemizygous lethal type", "full_name": null, "deprecated": null, "description": null, @@ -263,9 +268,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010676", + "id": "MONDO:0010677", "category": "biolink:Disease", - "name": "muscular dystrophy, Hemizygous lethal type", + "name": "muscular dystrophy, Mabry type", "full_name": null, "deprecated": null, "description": null, @@ -285,9 +290,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010677", + "id": "MONDO:0010678", "category": "biolink:Disease", - "name": "muscular dystrophy, Mabry type", + "name": "muscular dystrophy, progressive Pectorodorsal", "full_name": null, "deprecated": null, "description": null, @@ -307,9 +312,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010678", + "id": "MONDO:0010679", "category": "biolink:Disease", - "name": "muscular dystrophy, progressive Pectorodorsal", + "name": "Duchenne muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -329,9 +334,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0010679", + "id": "MONDO:0016106", "category": "biolink:Disease", - "name": "Duchenne muscular dystrophy", + "name": "progressive muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -351,9 +356,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0016106", + "id": "MONDO:0018949", "category": "biolink:Disease", - "name": "progressive muscular dystrophy", + "name": "distal myopathy", "full_name": null, "deprecated": null, "description": null, @@ -395,9 +400,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0018949", + "id": "MONDO:0023204", "category": "biolink:Disease", - "name": "distal myopathy", + "name": "Fukuda-Miyanomae-Nakata syndrome", "full_name": null, "deprecated": null, "description": null, @@ -417,9 +422,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0023204", + "id": "MONDO:0100228", "category": "biolink:Disease", - "name": "Fukuda-Miyanomae-Nakata syndrome", + "name": "LAMA2-related muscular dystrophy", "full_name": null, "deprecated": null, "description": null, @@ -439,9 +444,9 @@ "has_phenotype_count": null }, { - "id": "MONDO:0100228", + "id": "MONDO:0008028", "category": "biolink:Disease", - "name": "LAMA2-related muscular dystrophy", + "name": "muscular dystrophy, Barnes type", "full_name": null, "deprecated": null, "description": null, diff --git a/frontend/fixtures/phenotype-explorer-compare.json b/frontend/fixtures/phenotype-explorer-compare.json index 33edf866b..2e550f8db 100644 --- a/frontend/fixtures/phenotype-explorer-compare.json +++ b/frontend/fixtures/phenotype-explorer-compare.json @@ -2,26 +2,26 @@ "subject_termset": { "MP:0010771": { "id": "MP:0010771", - "label": "integument phenotype (MPO)" + "label": "integument phenotype" }, "MP:0002169": { "id": "MP:0002169", - "label": "no abnormal phenotype detected (MPO)" + "label": "no abnormal phenotype detected" } }, "object_termset": { "HP:0004325": { "id": "HP:0004325", - "label": "Decreased body weight (HPO)" + "label": "Decreased body weight" } }, "subject_best_matches": { "MP:0002169": { "match_source": "MP:0002169", - "match_source_label": "no abnormal phenotype detected (MPO)", + "match_source_label": "no abnormal phenotype detected", "match_target": "HP:0004325", - "match_target_label": "Decreased body weight (HPO)", - "score": 1.5540019332516637, + "match_target_label": "Decreased body weight", + "score": 1.5518735174643892, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -36,20 +36,20 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 1.5540019332516637, + "ancestor_information_content": 1.5518735174643892, "jaccard_similarity": 0.23076923076923078, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.5988454147360435 + "phenodigm_score": 0.5984351743308522 }, "score_metric": "ancestor_information_content" }, "MP:0010771": { "match_source": "MP:0010771", - "match_source_label": "integument phenotype (MPO)", + "match_source_label": "integument phenotype", "match_target": "HP:0004325", - "match_target_label": "Decreased body weight (HPO)", - "score": 1.5540019332516637, + "match_target_label": "Decreased body weight", + "score": 1.5518735174643892, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -64,11 +64,11 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 1.5540019332516637, + "ancestor_information_content": 1.5518735174643892, "jaccard_similarity": 0.24, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.61070489107293 + "phenodigm_score": 0.6102865263066631 }, "score_metric": "ancestor_information_content" } @@ -76,17 +76,17 @@ "object_best_matches": { "HP:0004325": { "match_source": "HP:0004325", - "match_source_label": "Decreased body weight (HPO)", - "match_target": "MP:0010771", - "match_target_label": "integument phenotype (MPO)", - "score": 1.5540019332516637, + "match_source_label": "Decreased body weight", + "match_target": "MP:0002169", + "match_target_label": "no abnormal phenotype detected", + "score": 1.5518735174643892, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "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", @@ -94,16 +94,16 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 1.5540019332516637, - "jaccard_similarity": 0.24, + "ancestor_information_content": 1.5518735174643892, + "jaccard_similarity": 0.23076923076923078, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.61070489107293 + "phenodigm_score": 0.5984351743308522 }, "score_metric": "ancestor_information_content" } }, - "average_score": 1.5540019332516637, - "best_score": 1.5540019332516637, + "average_score": 1.5518735174643892, + "best_score": 1.5518735174643892, "metric": "AncestorInformationContent" } diff --git a/frontend/fixtures/phenotype-explorer-multi-compare-request.json b/frontend/fixtures/phenotype-explorer-multi-compare-request.json new file mode 100644 index 000000000..e5f986bc7 --- /dev/null +++ b/frontend/fixtures/phenotype-explorer-multi-compare-request.json @@ -0,0 +1,44 @@ +{ + "metric": "ancestor_information_content", + "subjects": [ + "HP:0002616", + "HP:0001763", + "HP:0004944", + "HP:0010749", + "HP:0001533", + "HP:0002020", + "HP:0012450" + ], + "object_sets": [ + { + "id": "MGI:2441732", + "label": "Adgrg7", + "phenotypes": [ + "MP:0011965", + "MP:0002834", + "MP:0003731", + "MP:0011962", + "MP:0011960", + "MP:0008489", + "MP:0003291", + "MP:0001262" + ] + }, + { + "id": "MGI:87909", + "label": "Acta2", + "phenotypes": [ + "MP:0002834", + "MP:0003070", + "MP:0004022", + "MP:0004021", + "MP:0003026", + "MP:0006264", + "MP:0000230", + "MP:0000233", + "MP:0000272", + "MP:0009862" + ] + } + ] +} diff --git a/frontend/fixtures/phenotype-explorer-multi-compare.json b/frontend/fixtures/phenotype-explorer-multi-compare.json index 9c7093367..b2491dd09 100644 --- a/frontend/fixtures/phenotype-explorer-multi-compare.json +++ b/frontend/fixtures/phenotype-explorer-multi-compare.json @@ -1,9 +1,9 @@ [ { "subject": { - "id": "test1", + "id": "MGI:2441732", "category": null, - "name": "Test1", + "name": "Adgrg7", "full_name": null, "deprecated": null, "description": null, @@ -22,508 +22,485 @@ "has_phenotype_closure_label": [], "has_phenotype_count": null }, - "score": 0.5499139182472516, + "score": 8.608834726850041, "similarity": { "subject_termset": { - "HP:0001533": { "id": "HP:0001533", "label": "Slender build (HPO)" }, - "HP:0012450": { - "id": "HP:0012450", - "label": "Chronic constipation (HPO)" - }, + "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis" }, + "HP:0001763": { "id": "HP:0001763", "label": "Pes planus" }, + "HP:0001533": { "id": "HP:0001533", "label": "Slender build" }, + "HP:0002616": { "id": "HP:0002616", "label": "Aortic root aneurysm" }, "HP:0004944": { "id": "HP:0004944", - "label": "Dilatation of the cerebral artery (HPO)" + "label": "Dilatation of the cerebral artery" }, "HP:0002020": { "id": "HP:0002020", - "label": "Gastroesophageal reflux (HPO)" + "label": "Gastroesophageal reflux" }, - "HP:0010749": { "id": "HP:0010749", "label": "Blepharochalasis (HPO)" }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, - "HP:0002616": { - "id": "HP:0002616", - "label": "Aortic root aneurysm (HPO)" - } + "HP:0012450": { "id": "HP:0012450", "label": "Chronic constipation" } }, "object_termset": { - "HP:0100785": { "id": "HP:0100785", "label": "Insomnia (HPO)" }, - "HP:0000490": { "id": "HP:0000490", "label": "Deeply set eye (HPO)" }, - "HP:0002108": { - "id": "HP:0002108", - "label": "Spontaneous pneumothorax (HPO)" - }, - "HP:0000545": { "id": "HP:0000545", "label": "Myopia (HPO)" }, - "HP:0001763": { "id": "HP:0001763", "label": "Pes planus (HPO)" }, - "HP:0000023": { "id": "HP:0000023", "label": "Inguinal hernia (HPO)" }, - "HP:0000268": { "id": "HP:0000268", "label": "Dolichocephaly (HPO)" }, - "HP:0000767": { "id": "HP:0000767", "label": "Pectus excavatum (HPO)" }, - "HP:0002616": { - "id": "HP:0002616", - "label": "Aortic root aneurysm (HPO)" + "MP:0002834": { "id": "MP:0002834", "label": "decreased heart weight" }, + "MP:0003291": { + "id": "MP:0003291", + "label": "interstinal hyperperistalsis" + }, + "MP:0011960": { + "id": "MP:0011960", + "label": "abnormal eye anterior chamber depth" + }, + "MP:0011962": { + "id": "MP:0011962", + "label": "increased cornea thickness" + }, + "MP:0011965": { + "id": "MP:0011965", + "label": "decreased total retina thickness" + }, + "MP:0001262": { "id": "MP:0001262", "label": "decreased body weight" }, + "MP:0003731": { + "id": "MP:0003731", + "label": "abnormal retina outer nuclear layer morphology" + }, + "MP:0008489": { + "id": "MP:0008489", + "label": "slow postnatal weight gain" } }, "subject_best_matches": { "HP:0001533": { "match_source": "HP:0001533", - "match_source_label": "Slender build (HPO)", - "match_target": "HP:0000268", - "match_target_label": "Dolichocephaly (HPO)", - "score": 0.30158730158730157, + "match_source_label": "Slender build", + "match_target": "MP:0001262", + "match_target_label": "decreased body weight", + "score": 13.667892510789482, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0001533", "subject_label": null, "subject_source": null, - "object_id": "HP:0000268", + "object_id": "MP:0001262", "object_label": null, "object_source": null, - "ancestor_id": "UPHENO:0065599", - "ancestor_label": "increased size of the anatomical entity in independent continuant", + "ancestor_id": "UPHENO:0082794", + "ancestor_label": "Decreased multicellular organism mass", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 5.92483911538792, - "jaccard_similarity": 0.30158730158730157, + "ancestor_information_content": 13.667892510789482, + "jaccard_similarity": 0.40384615384615385, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.3367334218716675 + "phenodigm_score": 2.34940967514501 }, - "score_metric": "jaccard_similarity" + "score_metric": "ancestor_information_content" }, "HP:0001763": { "match_source": "HP:0001763", - "match_source_label": "Pes planus (HPO)", - "match_target": "HP:0001763", - "match_target_label": "Pes planus (HPO)", - "score": 1.0, + "match_source_label": "Pes planus", + "match_target": "MP:0002834", + "match_target_label": "decreased heart weight", + "score": 3.066606173373863, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0001763", "subject_label": null, "subject_source": null, - "object_id": "HP:0001763", + "object_id": "MP:0002834", "object_label": null, "object_source": null, - "ancestor_id": "HP:0001763", - "ancestor_label": "Pes planus (HPO)", + "ancestor_id": "UPHENO:0015280", + "ancestor_label": "abnormal anatomical entity morphology in the independent continuant", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 17.11867244793447, - "jaccard_similarity": 1.0, + "ancestor_information_content": 3.066606173373863, + "jaccard_similarity": 0.203125, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 4.137471745877483 + "phenodigm_score": 0.7892429150563 }, - "score_metric": "jaccard_similarity" + "score_metric": "ancestor_information_content" }, "HP:0002020": { "match_source": "HP:0002020", - "match_source_label": "Gastroesophageal reflux (HPO)", - "match_target": "HP:0000023", - "match_target_label": "Inguinal hernia (HPO)", - "score": 0.36363636363636365, + "match_source_label": "Gastroesophageal reflux", + "match_target": "MP:0003291", + "match_target_label": "interstinal hyperperistalsis", + "score": 9.97713534604573, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0002020", "subject_label": null, "subject_source": null, - "object_id": "HP:0000023", + "object_id": "MP:0003291", "object_label": null, "object_source": null, - "ancestor_id": "HP:0025031", - "ancestor_label": "Abnormality of the digestive system (HPO)", + "ancestor_id": "UPHENO:0002443", + "ancestor_label": "abnormality of digestive system physiology", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 7.826350815132431, - "jaccard_similarity": 0.36363636363636365, + "ancestor_information_content": 9.97713534604573, + "jaccard_similarity": 0.3684210526315789, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.686993109338994 + "phenodigm_score": 1.9172341292700534 }, - "score_metric": "jaccard_similarity" + "score_metric": "ancestor_information_content" }, "HP:0002616": { "match_source": "HP:0002616", - "match_source_label": "Aortic root aneurysm (HPO)", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm (HPO)", - "score": 1.0, + "match_source_label": "Aortic root aneurysm", + "match_target": "MP:0002834", + "match_target_label": "decreased heart weight", + "score": 5.978046425988158, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0002616", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "MP:0002834", "object_label": null, "object_source": null, - "ancestor_id": "HP:0002616", - "ancestor_label": "Aortic root aneurysm (HPO)", + "ancestor_id": "UPHENO:0076776", + "ancestor_label": "abnormal cardiovascular system morphology", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 18.11867244793447, - "jaccard_similarity": 1.0, + "ancestor_information_content": 5.978046425988158, + "jaccard_similarity": 0.2545454545454545, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 4.256603393309561 + "phenodigm_score": 1.233565784543729 }, - "score_metric": "jaccard_similarity" + "score_metric": "ancestor_information_content" }, "HP:0004944": { "match_source": "HP:0004944", - "match_source_label": "Dilatation of the cerebral artery (HPO)", - "match_target": "HP:0002616", - "match_target_label": "Aortic root aneurysm (HPO)", - "score": 0.5185185185185185, + "match_source_label": "Dilatation of the cerebral artery", + "match_target": "MP:0002834", + "match_target_label": "decreased heart weight", + "score": 5.978046425988158, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0004944", "subject_label": null, "subject_source": null, - "object_id": "HP:0002616", + "object_id": "MP:0002834", "object_label": null, "object_source": null, - "ancestor_id": "HP:0002617", - "ancestor_label": "Vascular dilatation (HPO)", + "ancestor_id": "UPHENO:0076776", + "ancestor_label": "abnormal cardiovascular system morphology", "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 13.260691452806897, - "jaccard_similarity": 0.5185185185185185, + "ancestor_information_content": 5.978046425988158, + "jaccard_similarity": 0.20588235294117646, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 2.6221964241148323 + "phenodigm_score": 1.1094026609730268 }, - "score_metric": "jaccard_similarity" + "score_metric": "ancestor_information_content" }, "HP:0010749": { "match_source": "HP:0010749", - "match_source_label": "Blepharochalasis (HPO)", - "match_target": "HP:0000545", - "match_target_label": "Myopia (HPO)", - "score": 0.3389830508474576, + "match_source_label": "Blepharochalasis", + "match_target": "MP:0011962", + "match_target_label": "increased cornea thickness", + "score": 6.6792078240173165, "match_subsumer": null, 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"ZP:0018569", + "GO:0032502", + "BFO:0000002", + "BFO:0000003", + "UPHENO:0001003", + "GO:0030097", + "GO:0048856", + "GO:0030099", "UPHENO:0078513", "ZP:0131284", - "UPHENO:0001005", - "UPHENO:0001003", - "UPHENO:0034024", - "ZP:0014956", - "PATO:0000001", - "BFO:0000001" + "GO:0008150", + "ZP:0018569", + "BFO:0000001", + "PATO:0000001" ], "has_phenotype_closure_label": [ + "process", + "entity", + "myeloid cell development", + "Phenotypic abnormality", + "absent myeloid cell development", "hemopoiesis quality, abnormal", + "phenotype", + "phenotype by ontology source", + "absent biological_process", + "cell differentiation", + "abnormal phenotype by ontology source", + "cellular process", + "developmental process", + "hemopoiesis", + "myeloid cell development absent, abnormal", + "occurrent", + "myeloid cell differentiation", "quality", "continuant", - "Phenotypic abnormality", - "entity", + "biological_process", "specifically dependent continuant", - "abnormal phenotype by ontology source", - "absent biological_process", - "myeloid cell development absent, abnormal", + "cellular developmental process", + "anatomical structure development", "Zebrafish Phenotype", "biological_process quality, abnormal", - "phenotype by ontology source", - "phenotype", - "absent myeloid cell development" + "cell development" ], "has_phenotype_count": 1 }, - "score": 7.234842285670967, + "score": 7.011754466426716, "similarity": { "subject_termset": { "ZP:0018569": { "id": "ZP:0018569", - "label": "myeloid cell development absent, abnormal (ZPO)" + "label": "myeloid cell development absent, abnormal" } }, "object_termset": { - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" }, - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } }, "subject_best_matches": { "ZP:0018569": { "match_source": "ZP:0018569", - "match_source_label": "myeloid cell development absent, abnormal (ZPO)", + "match_source_label": "myeloid cell development absent, abnormal", "match_target": "HP:0002104", - "match_target_label": "Apnea (HPO)", - "score": 9.08524944639702, + "match_target_label": "Apnea", + "score": 8.79057503056431, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -97,11 +121,11 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 9.08524944639702, - "jaccard_similarity": 0.34615384615384615, + "ancestor_information_content": 8.79057503056431, + "jaccard_similarity": 0.3333333333333333, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.773384910034319 + "phenodigm_score": 1.711780265353813 }, "score_metric": "ancestor_information_content" } @@ -109,10 +133,10 @@ "object_best_matches": { "HP:0002104": { "match_source": "HP:0002104", - "match_source_label": "Apnea (HPO)", + "match_source_label": "Apnea", "match_target": "ZP:0018569", - "match_target_label": "myeloid cell development absent, abnormal (ZPO)", - "score": 9.08524944639702, + "match_target_label": "myeloid cell development absent, abnormal", + "score": 8.79057503056431, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -127,20 +151,20 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 9.08524944639702, - "jaccard_similarity": 0.34615384615384615, + "ancestor_information_content": 8.79057503056431, + "jaccard_similarity": 0.3333333333333333, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.773384910034319 + "phenodigm_score": 1.711780265353813 }, "score_metric": "ancestor_information_content" }, "HP:0012378": { "match_source": "HP:0012378", - "match_source_label": "Fatigue (HPO)", + "match_source_label": "Fatigue", "match_target": "ZP:0018569", - "match_target_label": "myeloid cell development 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"match_target_label": "Apnea", + "score": 8.79057503056431, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -715,11 +851,11 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 9.08524944639702, - "jaccard_similarity": 0.34615384615384615, + "ancestor_information_content": 8.79057503056431, + "jaccard_similarity": 0.3333333333333333, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.773384910034319 + "phenodigm_score": 1.711780265353813 }, "score_metric": "ancestor_information_content" } @@ -727,17 +863,17 @@ "object_best_matches": { "HP:0002104": { "match_source": "HP:0002104", - "match_source_label": "Apnea (HPO)", - "match_target": "ZP:0018568", - "match_target_label": "primitive hemopoiesis absent, abnormal (ZPO)", - "score": 9.08524944639702, + "match_source_label": "Apnea", + "match_target": "ZP:0018569", + "match_target_label": "myeloid cell 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"ZP:00000000", - "UPHENO:0078511", "UPHENO:0078513", - "ZP:0131284", - "UPHENO:0001001", + "GO:0061515", "BFO:0000020", - "UPHENO:0001005", - "BFO:0000002", - "UPHENO:0001003", - "UPHENO:0034024", + "UPHENO:0001002", + "BFO:0000001", "ZP:0018568", "PATO:0000001", - "BFO:0000001", - "ZP:0014956" + "GO:0007275", + "GO:0048513", + "GO:0060215", + "UPHENO:0001003", + "GO:0008150", + "GO:0048856", + "ZP:0131284", + "GO:0030097", + "GO:0032501", + "GO:0030099", + "GO:0048869", + "UPHENO:0001005", + "UPHENO:0034024", + "BFO:0000002", + "GO:0032502", + "BFO:0000003", + "UPHENO:0078511", + "ZP:00000000", + "GO:0035162", + "GO:0048568", + "ZP:0014956", + "BFO:0000015", + "GO:0009987", + "GO:0048468", + "GO:0030154", + "GO:0009790", + "ZP:0018569", + "UPHENO:0001001" ], "has_phenotype_closure_label": [ + "myeloid cell development", "absent myeloid cell development", + "myeloid cell differentiation", + "process", + "multicellular organism development", + "cellular developmental process", + 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(HPO)", - "score": 9.08524944639702, + "match_target_label": "Apnea", + "score": 8.79057503056431, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -925,11 +1099,11 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 9.08524944639702, - "jaccard_similarity": 0.34615384615384615, + "ancestor_information_content": 8.79057503056431, + "jaccard_similarity": 0.3333333333333333, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 1.773384910034319 + "phenodigm_score": 1.711780265353813 }, "score_metric": "ancestor_information_content" } @@ -937,17 +1111,17 @@ "object_best_matches": { "HP:0002104": { "match_source": "HP:0002104", - "match_source_label": "Apnea (HPO)", - "match_target": "ZP:0018569", - "match_target_label": "myeloid cell development absent, abnormal (ZPO)", - "score": 9.08524944639702, + "match_source_label": "Apnea", + "match_target": "ZP:0018568", + 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"match_target": "ZP:0018569", - "match_target_label": "myeloid cell development absent, abnormal (ZPO)", - "score": 1.6836208034928104, + "match_target_label": "myeloid cell development absent, abnormal", + "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -983,17 +1157,17 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 1.6836208034928104, - "jaccard_similarity": 0.47058823529411764, + "ancestor_information_content": 1.6752927740139332, + "jaccard_similarity": 0.4444444444444444, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8901079388591847 + "phenodigm_score": 0.8628873427211774 }, "score_metric": "ancestor_information_content" } }, - "average_score": 7.234842285670967, - "best_score": 9.08524944639702, + "average_score": 7.011754466426716, + "best_score": 8.79057503056431, "metric": "AncestorInformationContent" } }, @@ -1020,74 +1194,179 @@ "pigment cell quality, abnormal" ], "has_phenotype_closure": [ + "NCBITaxon:6072", + "NCBITaxon:131567", "UPHENO:0002536", - "ZP:0107296", - "ZP:0107311", - "ZP:0107301", + "NCBITaxon:117571", + "UBERON:0001062", + "NCBITaxon:186634", + "ZFA:0009090", + "ZFA:0000037", + "OBI:0100026", + "NCBITaxon:2743709", + "NCBITaxon:186625", "BFO:0000020", - "UPHENO:0001002", - "ZP:00000000", - "ZP:0131284", - "ZP:0000945", "UPHENO:0001001", - "UPHENO:0001003", + "GO:0007601", + "GO:0050877", + "CL:0000325", + "UPHENO:0078456", + "NCBITaxon:186626", + "BFO:0000015", "UPHENO:0001005", - "ZP:0001840", + "NCBITaxon:2759", "BFO:0000002", - "ZP:0100009", + "BFO:0000004", + "NCBITaxon:30727", + "NCBITaxon:41665", + "UPHENO:0001003", "UPHENO:0034024", - "UPHENO:0078456", - "PATO:0000001", + "GO:0032501", + "NCBITaxon:1", + "GO:0008150", + "UBERON:0000468", + "ZP:0100294", + "UPHENO:0001002", + "ZP:00000000", + "NCBITaxon:117570", + "NCBITaxon:186627", + "NCBITaxon:7898", + 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+ "Cyprinoidei", + "Euteleostomi", + "Otomorpha", + "phenotype", + "Gnathostomata ", + "Metazoa", + "Clupeocephala", "abnormal phenotype by ontology source", - "absent biological_process", - "continuant", - "Phenotypic abnormality", - "whole organism quality, abnormal", + "whole organism", + "anatomical structure quality, abnormal", + "process", + "phenotype by ontology source", + "abnormal anatomical entity", + "occurrent", + "Chordata", + "Eukaryota", + "material anatomical entity", "Zebrafish Phenotype", + "Phenotypic abnormality", "biological_process quality, abnormal", - "phenotype", - "phenotype by ontology source", - "absent visual perception", - "specifically dependent continuant", "entity", + "nervous system process", + "Bilateria", + "sensory perception", "visual perception quality, abnormal", - "visual perception absent, abnormal" + "specifically dependent continuant", + "absent visual perception", + "system process", + "continuant", + "Osteoglossocephalai", + "anatomical structure", + "pigment cell", + "multicellular anatomical structure", + "visual perception", + "biological_process", + "Teleostomi", + "material entity", + "anatomical entity", + "Opisthokonta", + "cellular organisms", + "Deuterostomia", + "Ostariophysi", + "absent biological_process", + "Vertebrata ", + "stuff accumulating cell", + "Danio", + "Otophysi", + "visual perception absent, abnormal", + "organism", + "quality", + "root", + "Actinopterygii", + "Teleostei", + "sensory perception of light stimulus", + "Danioninae", + "Cypriniformes", + "whole organism quality, abnormal", + "Actinopteri", + "zebrafish anatomical entity quality, abnormal", + "independent continuant", + "multicellular organismal process", + "Danionidae", + "cell quality, abnormal", + "Cypriniphysae", + "cell", + "Craniata ", + "multicellular organism" ], "has_phenotype_count": 2 }, - "score": 5.412148503540145, + "score": 5.262083911717577, "similarity": { "subject_termset": { - "ZP:0000945": { - "id": 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organism mobility, abnormal", - "Zebrafish Phenotype", - "abnormal anatomical entity mobility", + "Neopterygii", + "material anatomical entity", "whole organism quality, abnormal", - "continuant", + "multicellular anatomical structure", + "Cyprinoidei", + "Euteleostomi", + "Teleostomi", + "zebrafish anatomical entity", + "Craniata ", + "multicellular organism", + "whole organism", "entity", - "specifically dependent continuant", - "decreased anatomical entity mobility", + "whole organism morphology, abnormal", "zebrafish anatomical entity quality, abnormal", "whole organism physical object quality, abnormal", - "whole organism decreased mobility, abnormal", + "root", + "Zebrafish Phenotype", + "Phenotypic abnormality", + "organism", + "Deuterostomia", + "anatomical entity", + "Metazoa", + "quality", + "Gnathostomata ", + "Otomorpha", "phenotype", - "phenotype by ontology source" + "Eukaryota", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Cypriniphysae", + "cellular organisms", + "material entity", + "anatomical structure", + "Clupeocephala", + "abnormal phenotype by ontology source", + "Vertebrata ", + "Ostariophysi", + "Actinopterygii", + "Danio", + "Danionidae", + "Eumetazoa", + "phenotype by ontology source", + "Chordata", + "Cypriniformes", + "Danioninae", + "Teleostei", + "Otophysi", + "abnormal anatomical entity", + "anatomical structure quality, abnormal", + "Bilateria", + "Opisthokonta", + "abnormal anatomical entity morphology in the independent continuant", + "continuant", + "Osteoglossocephalai", + "independent continuant", + "Actinopteri" ], "has_phenotype_count": 1 }, - "score": 2.0320941603922114, + "score": 2.1215912275582607, "similarity": { "subject_termset": { - "ZP:0003210": { - "id": "ZP:0003210", - "label": "whole organism decreased mobility, abnormal (ZPO)" + "ZP:0001432": { + "id": "ZP:0001432", + "label": "whole organism morphology, abnormal" } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" } + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" }, + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" } }, "subject_best_matches": { - "ZP:0003210": { - "match_source": "ZP:0003210", - "match_source_label": "whole organism decreased mobility, abnormal (ZPO)", + "ZP:0001432": { + "match_source": "ZP:0001432", + "match_source_label": "whole organism morphology, abnormal", "match_target": "HP:0002104", - "match_target_label": "Apnea (HPO)", - "score": 2.1482519460253453, + "match_target_label": "Apnea", + "score": 2.270357378739703, "match_subsumer": null, "match_subsumer_label": null, "similarity": { - "subject_id": "ZP:0003210", + "subject_id": "ZP:0001432", "subject_label": null, "subject_source": null, "object_id": "HP:0002104", @@ -1700,11 +2205,11 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 2.1482519460253453, + "ancestor_information_content": 2.270357378739703, "jaccard_similarity": 0.3225806451612903, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8324569050214271 + "phenodigm_score": 0.8557881443327836 }, "score_metric": "ancestor_information_content" } @@ -1712,17 +2217,17 @@ "object_best_matches": { "HP:0002104": { "match_source": "HP:0002104", - "match_source_label": "Apnea (HPO)", - "match_target": "ZP:0003210", - "match_target_label": "whole organism decreased mobility, abnormal (ZPO)", - "score": 2.1482519460253453, + "match_source_label": "Apnea", + "match_target": "ZP:0001432", + "match_target_label": "whole organism morphology, abnormal", + "score": 2.270357378739703, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0002104", "subject_label": null, "subject_source": null, - "object_id": "ZP:0003210", + "object_id": "ZP:0001432", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0075696", @@ -1730,27 +2235,27 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 2.1482519460253453, + "ancestor_information_content": 2.270357378739703, "jaccard_similarity": 0.3225806451612903, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8324569050214271 + "phenodigm_score": 0.8557881443327836 }, "score_metric": "ancestor_information_content" }, "HP:0012378": { "match_source": "HP:0012378", - "match_source_label": "Fatigue (HPO)", - "match_target": "ZP:0003210", - "match_target_label": "whole organism decreased mobility, abnormal (ZPO)", - "score": 1.6836208034928104, + "match_source_label": "Fatigue", + "match_target": "ZP:0001432", + "match_target_label": "whole organism morphology, abnormal", + "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, "similarity": { "subject_id": "HP:0012378", "subject_label": null, "subject_source": null, - "object_id": "ZP:0003210", + "object_id": "ZP:0001432", "object_label": null, "object_source": null, "ancestor_id": "UPHENO:0001005", @@ -1758,107 +2263,186 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 1.6836208034928104, + "ancestor_information_content": 1.6752927740139332, "jaccard_similarity": 0.34782608695652173, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.765249786669359 + "phenodigm_score": 0.7633547865126693 }, "score_metric": "ancestor_information_content" } }, - "average_score": 2.0320941603922114, - "best_score": 2.1482519460253453, + "average_score": 2.1215912275582607, + "best_score": 2.270357378739703, "metric": "AncestorInformationContent" } }, { "subject": { - "id": "ZFIN:ZDB-GENE-040718-335", + "id": "ZFIN:ZDB-GENE-030131-778", "category": "biolink:Gene", - "name": "tnfsf10", - "full_name": "TNF superfamily member 10", + "name": "pola2", + "full_name": "polymerase (DNA directed), alpha 2", "deprecated": null, "description": null, "xref": [ - "PANTHER:PTHR11471", - "ENSEMBL:ENSDARG00000057241", - "NCBIGene:436866", - "UniProtKB:Q6DHG9", - "UniProtKB:A0A2R8QAD8", - "ZFIN:ZDB-GENE-040718-335" + "PANTHER:PTHR23061", + "UniProtKB:Q6P0S9", + "ZFIN:ZDB-GENE-030131-778", + "NCBIGene:322059", + "ENSEMBL:ENSDARG00000015070", + "UniProtKB:B0S687" ], "provided_by": "alliance_gene_nodes", "in_taxon": "NCBITaxon:7955", "in_taxon_label": "Danio rerio", - "symbol": "tnfsf10", - "synonym": ["DL2", "tnfsf10l2", "TNFSF10-1", "zgc:92320"], - "uri": "https://identifiers.org/zfin/ZDB-GENE-040718-335", + "symbol": "pola2", + "synonym": ["zgc:77841", "wu:fb48f05"], + "uri": "https://identifiers.org/zfin/ZDB-GENE-030131-778", "iri": null, "namespace": "ZFIN", "has_phenotype": ["ZP:0001432"], "has_phenotype_label": ["whole organism morphology, abnormal"], "has_phenotype_closure": [ - "UPHENO:0002536", + "NCBITaxon:41665", + "BFO:0000004", + "NCBITaxon:117570", + "UBERON:0000061", + "UPHENO:0001003", + "NCBITaxon:186623", + "NCBITaxon:7898", + "UBERON:0010000", + "ZFA:0100000", + "BFO:0000001", "UPHENO:0020584", - "BFO:0000002", - "UPHENO:0001001", - "BFO:0000020", - "ZP:0107301", - "ZP:00000000", - "UPHENO:0001002", - "UPHENO:0076692", - "ZP:0100009", "ZP:0013613", - "UPHENO:0001003", + "NCBITaxon:117571", "UPHENO:0001005", - "ZP:0001432", - "ZP:0107311", - "BFO:0000001", + "NCBITaxon:7954", + "ZP:00000000", + "BFO:0000020", + "NCBITaxon:186627", + "BFO:0000002", + "UBERON:0001062", + "NCBITaxon:89593", + "NCBITaxon:2759", + "NCBITaxon:1", + "ZP:0107301", + "NCBITaxon:186625", + "UPHENO:0001001", + "BFO:0000040", + "NCBITaxon:32519", + "UPHENO:0002536", + "NCBITaxon:186634", + "NCBITaxon:33213", + "NCBITaxon:1489341", + "NCBITaxon:131567", + "NCBITaxon:186626", "PATO:0000001", + "ZFA:0001094", + "ZP:0100009", + "NCBITaxon:33511", + "NCBITaxon:2743711", + "NCBITaxon:7711", + "UBERON:0000468", + "NCBITaxon:6072", "UPHENO:0075696", - "UPHENO:0015280" + "NCBITaxon:33154", + "UBERON:0000465", + "ZP:0107311", + "NCBITaxon:7776", + "NCBITaxon:32443", + "ZP:0001432", + "NCBITaxon:7952", + "NCBITaxon:2743709", + "NCBITaxon:30727", + "NCBITaxon:33208", + "UPHENO:0001002", + "UPHENO:0015280", + "NCBITaxon:7742", + "UPHENO:0076692", + "ZFA:0000037", + "OBI:0100026" ], "has_phenotype_closure_label": [ - "Phenotypic abnormality", - "anatomical structure quality, abnormal", - "abnormal anatomical entity morphology in the independent continuant", - "specifically dependent continuant", - "quality", - "continuant", - "Zebrafish Phenotype", + "Neopterygii", + "material anatomical entity", "whole organism quality, abnormal", - "abnormal anatomical entity morphology", + "multicellular anatomical structure", + "Cyprinoidei", + "Euteleostomi", + "Teleostomi", + "zebrafish anatomical entity", + "Craniata ", + "multicellular organism", + "whole organism", "entity", - "abnormal phenotype by ontology source", "whole organism morphology, abnormal", "zebrafish anatomical entity quality, abnormal", "whole organism physical object quality, abnormal", + "root", + "Zebrafish Phenotype", + "Phenotypic abnormality", + "organism", + "Deuterostomia", + "anatomical entity", + "Metazoa", + "quality", + "Gnathostomata ", + "Otomorpha", "phenotype", + "Eukaryota", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "Cypriniphysae", + "cellular organisms", + "material entity", + "anatomical structure", + "Clupeocephala", + "abnormal phenotype by ontology source", + "Vertebrata ", + "Ostariophysi", + "Actinopterygii", + "Danio", + "Danionidae", + "Eumetazoa", "phenotype by ontology source", - "abnormal anatomical entity" + "Chordata", + "Cypriniformes", + "Danioninae", + "Teleostei", + "Otophysi", + "abnormal anatomical entity", + "anatomical structure quality, abnormal", + "Bilateria", + "Opisthokonta", + "abnormal anatomical entity morphology in the independent continuant", + "continuant", + "Osteoglossocephalai", + "independent continuant", + "Actinopteri" ], "has_phenotype_count": 1 }, - "score": 2.0320941603922114, + "score": 2.1215912275582607, "similarity": { "subject_termset": { "ZP:0001432": { "id": "ZP:0001432", - "label": "whole organism morphology, abnormal (ZPO)" + "label": "whole organism morphology, abnormal" } }, "object_termset": { - "HP:0012378": { "id": "HP:0012378", "label": "Fatigue (HPO)" }, - "HP:0002104": { "id": "HP:0002104", "label": "Apnea (HPO)" } + "HP:0012378": { "id": "HP:0012378", "label": "Fatigue" }, + "HP:0002104": { "id": "HP:0002104", "label": "Apnea" } }, "subject_best_matches": { "ZP:0001432": { "match_source": "ZP:0001432", - "match_source_label": "whole organism morphology, abnormal (ZPO)", + "match_source_label": "whole organism morphology, abnormal", "match_target": "HP:0002104", - "match_target_label": "Apnea (HPO)", - "score": 2.1482519460253453, + "match_target_label": "Apnea", + "score": 2.270357378739703, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -1873,11 +2457,11 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 2.1482519460253453, - "jaccard_similarity": 0.3125, + "ancestor_information_content": 2.270357378739703, + "jaccard_similarity": 0.3225806451612903, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8193465281142774 + "phenodigm_score": 0.8557881443327836 }, "score_metric": "ancestor_information_content" } @@ -1885,10 +2469,10 @@ "object_best_matches": { "HP:0002104": { "match_source": "HP:0002104", - "match_source_label": "Apnea (HPO)", + "match_source_label": "Apnea", "match_target": "ZP:0001432", - "match_target_label": "whole organism morphology, abnormal (ZPO)", - "score": 2.1482519460253453, + "match_target_label": "whole organism morphology, abnormal", + "score": 2.270357378739703, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -1903,20 +2487,20 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 2.1482519460253453, - "jaccard_similarity": 0.3125, + "ancestor_information_content": 2.270357378739703, + "jaccard_similarity": 0.3225806451612903, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.8193465281142774 + "phenodigm_score": 0.8557881443327836 }, "score_metric": "ancestor_information_content" }, "HP:0012378": { "match_source": "HP:0012378", - "match_source_label": "Fatigue (HPO)", + "match_source_label": "Fatigue", "match_target": "ZP:0001432", - "match_target_label": "whole organism morphology, abnormal (ZPO)", - "score": 1.6836208034928104, + "match_target_label": "whole organism morphology, abnormal", + "score": 1.6752927740139332, "match_subsumer": null, "match_subsumer_label": null, "similarity": { @@ -1931,17 +2515,17 @@ "ancestor_source": null, "object_information_content": null, "subject_information_content": null, - "ancestor_information_content": 1.6836208034928104, - "jaccard_similarity": 0.3333333333333333, + "ancestor_information_content": 1.6752927740139332, + "jaccard_similarity": 0.34782608695652173, "cosine_similarity": null, "dice_similarity": null, - "phenodigm_score": 0.7491374603486355 + "phenodigm_score": 0.7633547865126693 }, "score_metric": "ancestor_information_content" } }, - "average_score": 2.0320941603922114, - "best_score": 2.1482519460253453, + "average_score": 2.1215912275582607, + "best_score": 2.270357378739703, "metric": "AncestorInformationContent" } } diff --git a/frontend/fixtures/search.json b/frontend/fixtures/search.json index f1af0a9dd..20d7a1b66 100644 --- a/frontend/fixtures/search.json +++ b/frontend/fixtures/search.json @@ -44,6 +44,7 @@ "HP:0000582", "HP:0010469", "HP:0000377", + "HP:0002863", "HP:0002575", "HP:0000483", "HP:0000238", @@ -64,14 +65,13 @@ "HP:0002650", "HP:0000252", "HP:0001882", - "HP:0002863", + "HP:0001510", "HP:0002119", "HP:0001392", "HP:0000864", "HP:0000316", "HP:0000027", "HP:0001562", - "HP:0001510", "HP:0100867", "HP:0100760", "HP:0100542", @@ -152,6 +152,7 @@ "Upslanted palpebral fissure", "Absent testis", "Abnormal pinna morphology", + "Myelodysplasia", "Tracheoesophageal fistula", "Astigmatism", "Hydrocephalus", @@ -172,14 +173,13 @@ "Scoliosis", "Microcephaly", "Leukopenia", - "Myelodysplasia", + "Growth delay", "Ventriculomegaly", "Abnormality of the liver", "Abnormality of the hypothalamus-pituitary axis", "Hypertelorism", "Azoospermia", "Oligohydramnios", - "Growth delay", "Duodenal stenosis", "Clubbing of toes", "Abnormal localization of kidney", @@ -257,2175 +257,3605 @@ "Abnormality of skin pigmentation" ], "has_phenotype_closure": [ - "HP:0001053", - "UPHENO:0077872", - "UPHENO:0077892", - "UPHENO:0042775", - "UPHENO:0077885", - "UPHENO:0086173", + "HP:0001010", + "UPHENO:0085344", + "CL:0000233", + "CL:0000457", + "UPHENO:0085189", "UPHENO:0086049", - "UPHENO:0085070", + "CL:0000458", + "HP:0001873", "UPHENO:0084987", - "UPHENO:0085189", - "UPHENO:0086005", - "HP:0001939", + "UPHENO:0086173", + "HP:0011875", + "UPHENO:0085070", "HP:0003220", + "GO:0008152", + "HP:0001939", + "HP:0000002", + "UPHENO:0075159", "UPHENO:0080351", - "UPHENO:0081424", - "UPHENO:0085118", - "HP:0005522", - "HP:0020047", + "CL:0000329", + "UPHENO:0088170", + "UPHENO:0084928", + "CL:0000232", + "GO:0048872", + "HP:0001877", + "HP:0010972", "UPHENO:0088162", + "GO:0030218", "HP:0025461", - "HP:0001877", - "UPHENO:0085068", - "UPHENO:0087510", + "CL:0000764", + "HP:0005522", + "GO:0048871", + "GO:0048869", + "GO:0030099", + "UPHENO:0077892", + "GO:0030097", + "GO:0042592", + "GO:0002376", + "GO:0009987", + "HP:0020047", + "UBERON:0015001", + "HP:0002818", + "UPHENO:0080187", + "UPHENO:0075198", "HP:0012745", - "UPHENO:0046753", - "HP:0010978", - "HP:0032101", - "UPHENO:0053580", + "HP:0000010", + "UPHENO:0002263", + 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"UBERON:0001785", + "UPHENO:0031170", + "UBERON:0001021", + "HP:0006501", + "HP:0001642", + "UBERON:0005181", + "UPHENO:0005116", + "UPHENO:0087665", + "UBERON:0000010", "HP:0045060", - "UPHENO:0072402", - "UPHENO:0019886", + "CL:0000151", + "HP:0001510", + "HP:0001167", + "UPHENO:0085302", + "UPHENO:0080114", + "UBERON:0002384", + "UBERON:0012141", + "UPHENO:0085371", + "UPHENO:0076723", "UPHENO:0084766", + "UPHENO:0084653", + "UBERON:0005451", + "HP:0005922", + "UPHENO:0080201", + "UBERON:0003101", "HP:0001155", + "UPHENO:0049940", + "UPHENO:0084761", + "HP:0008373", "HP:0005927", - "UPHENO:0050622", - "HP:0040068", - "UPHENO:0002708", - "HP:0012638", - "HP:0001780", - "HP:0006101", - "HP:0025033", - "UPHENO:0078159", - "UPHENO:0076735", - "UPHENO:0078081", - "UPHENO:0080585", "UPHENO:0078179", - "HP:0004348", - "HP:0001551", - "UPHENO:0086792", - "UPHENO:0078288", - "UPHENO:0076786", - "UPHENO:0078215", - "HP:0002414", - "UPHENO:0082129", - "HP:0003330", - "UPHENO:0087203", - 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"GO:0048731", + "UPHENO:0075148", + "UBERON:0004249", + "GO:0035295", + "UBERON:0004908", + "UBERON:0006598", + "UBERON:0002240", + "HP:0002143", + "HP:0000119", + "GO:0043009", + "GO:0014020", + "UPHENO:0087307", + "UPHENO:0050034", + "HP:0003312", + "UPHENO:0084729", + "UBERON:0016880", + "GO:0001503", + "UBERON:0002412", + "UPHENO:0088123", + "HP:0007874", + "UPHENO:0002992", + "HP:0001710", + "UPHENO:0087363", + "HP:0000364", + "GO:0009790", + "UBERON:0002050", + "UBERON:0000011", + "UPHENO:0087121", + "HP:0002251", + "UPHENO:0002941", + "UBERON:0013768", + "UPHENO:0084771", + "UBERON:0004121", + "HP:0000525", + "UPHENO:0088183", + "HP:0012331", + "HP:0001000", + "UBERON:0012430", + "UPHENO:0021045", + "UPHENO:0020258", + "UBERON:0002005", + "HP:0410015", + "UBERON:0002410", + "UBERON:0016526", + "UPHENO:0010795", + "UBERON:0001805", + "UPHENO:0056072", + "HP:0001549", + "UPHENO:0019477", + "UBERON:0005401", + "UBERON:0011300", + "UPHENO:0075655", + "UBERON:0011164", + "UBERON:0003457", + "UPHENO:0087530" ], "has_phenotype_closure_label": [ - "Hypopigmented skin patches", + "decreased biological_process in skin of body", + "decreased qualitatively pigmentation in independent continuant", + "decreased biological_process in independent continuant", + "decreased biological_process in multicellular organism", "Hypopigmentation of the skin", - "decreased pigmentation in skin of body", - "decreased qualitatively pigmentation", - "decreased pigmentation in multicellular organism", + "decreased qualitatively biological_process in independent continuant", + "anucleate cell", + "secretory cell", + "abnormal platelet", + "abnormally decreased number of myeloid cell", + "abnormally decreased number of platelet", "abnormal blood cell", - "abnormal blood cell morphology", "Thrombocytopenia", "Abnormal platelet count", - "abnormal platelet morphology", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Abnormal cellular physiology", + "Abnormality of chromosome stability", + "obsolete cell", + "serotonin secreting cell", + "abnormal size of multicellular organism", + "decreased size of the multicellular organism", "Abnormality of body height", - "Abnormal cell morphology", - "Sideroblastic anemia", + "oxygen accumulating cell", + "erythrocyte differentiation", "abnormal myeloid cell morphology", + "Anemia of inadequate production", + "Sideroblastic anemia", + "abnormal erythroid lineage cell morphology", + "erythroid lineage cell", "Abnormal myeloid cell morphology", + "Pyridoxine-responsive sideroblastic anemia", + "erythrocyte", + "myeloid cell", + "blood cell", + "erythrocyte homeostasis", + "homeostasis of number of cells", + "cellular developmental process", "abnormal erythrocyte morphology", - "abnormal hematopoietic cell morphology", - "Abnormal erythroid lineage cell morphology", - "Global developmental delay", - "Short palpebral fissure", + "myeloid cell differentiation", + "hemopoiesis", + "homeostatic process", + "immune system process", + "cellular process", + "radius bone", + "Abnormal morphology of the radius", + "aplasia or hypoplasia of radius bone", + "abnormal radius bone morphology", + "Neurodevelopmental delay", + "abnormal size of palpebral fissure", + "Abnormal size of the palpebral fissures", "decreased length of palpebral fissure", + "abnormality of immune system physiology", "Abnormality of immune system physiology", - "Unusual infection", - "Recurrent urinary tract infections", + "Cryptorchidism", + "abnormally localised anatomical entity in independent continuant", + "abnormally localised testis", "Abnormal ureter morphology", - "abnormal ureter", - "abnormality of renal system physiology", - "Short stature", - "non-functional kidney", - "non-functional anatomical entity", - "abnormality of kidney physiology", - "Puberty and gonadal disorders", + "abnormal ureter morphology", + "Abnormality of the ureter", + "ureter", + "Abnormal renal physiology", + "Hypopigmented skin patches", + "Abnormality of the urinary system physiology", "abnormally decreased functionality of the gonad", - "Orofacial cleft", - "abnormality of anatomical entity height", + "Craniofacial cleft", + "Cleft palate", "High palate", "increased height of anatomical entity in independent continuant", - "abnormal size of head", + "increased height of the anatomical entity", "increased size of the head", - "Dolichocephaly", - "abnormal skin of head morphology", + "Increased head circumference", + "skin of face", + "upper eyelid", + "head or neck skin", + "Epicanthus", "abnormal skin of face morphology", - "abnormal forehead morphology", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", + "skin of head", + "increased length of the epicanthal fold", + "zone of skin", + "abnormal asymmetry of anatomical entity", + "sloped anatomical entity", + "abnormal shape of forehead", + "abnormal mandible morphology", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "facial skeleton", + "mandible", + "facial bone", "decreased size of the mandible", - "anatomical entity hypoplasia in face", + "Hypoplastic facial bones", "facial bone hypoplasia", - "mandible hypoplasia", - "abnormally localised anatomical entity", - "Micrognathia", + "bone of lower jaw", "abnormal facial skeleton morphology", - "Abnormal facial skeleton morphology", - "aplasia or hypoplasia of skull", - "Facial asymmetry", - "abnormal sensory perception of sound", + "Abnormal mandible morphology", + "anatomical entity hypoplasia in face", + "lower jaw region", + "bone element hypoplasia in face", + "mandible hypoplasia", "decreased sensory perception of sound", - "Abnormality of the ureter", - "Abnormality of vision", - "Proptosis", - "decreased size of the eyeball of camera-type eye", - "abnormally decreased number of platelet", - "Abnormality of globe size", + "Hearing abnormality", + "decreased qualitatively sensory perception of sound", + "sloped forehead", + "sensory perception of mechanical stimulus", + "abnormal sensory perception of sound", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "Strabismus", + "Abnormal conjugate eye movement", + "abnormal sensory perception", + "sensory perception of light stimulus", + "abnormal sensory perception of light stimulus", + "decreased qualitatively visual perception", + "visual perception", + "abnormally protruding eyeball of camera-type eye", + "cell development", "abnormal size of eyeball of camera-type eye", - "abnormal vestibulo-ocular reflex", - "abnormal internal ear", + "Abnormality of globe size", + "abnormal physiologic nystagmus", + "cranial nerve related reflex", "abnormality of ear physiology", - "Cryptorchidism", - "Nystagmus", + "Abnormal vestibulo-ocular reflex", + "Abnormality of eye movement", + "abnormal eye movement", + "abnormal vestibulo-ocular reflex", + "eye movement", "Abnormal vestibular function", - "Abnormality of the uterus", - "abnormal uterus", - "abnormal internal female genitalia morphology", - "Functional abnormality of the inner ear", - "abnormal uterus morphology", - "abnormal zone of skin morphology", - "Abnormal morphology of female internal genitalia", + "bicornuate anatomical entity", "abnormal female reproductive system", "shape uterus", - "Abnormal finger phalanx morphology", - "Triphalangeal thumb", + "oviduct", + "abnormal internal female genitalia morphology", + "female organism", + "Abnormality of the female genitalia", + "internal female genitalia", + "abnormal uterus", + "Abnormality of the uterus", + "uterus", + "Aplasia/Hypoplasia of facial bones", + "bicornuate uterus", + "excretory tube", + "manual digit 1 phalanx endochondral element", + "abnormal incomplete closing of the secondary palate", + "phalanx of manus", + "manus bone", + "skeleton of manual acropodium", + "abnormal manual digit 1 morphology", + "abnormal visual perception", "abnormal phalanx of manus morphology", "Abnormality of thumb phalanx", + "Triphalangeal thumb", + "manual digit 1 digitopodial skeleton", + "Abnormal finger phalanx morphology", + "abnormal female reproductive system morphology", + "digit 1 digitopodial skeleton", + "skeleton of manual digitopodium", + "manual digit 1 phalanx", + "manual digitopodium bone", + "digit 1", + "manual digit 1", + "abnormal anatomical entity morphology in the skeleton of manus", + "Bicornuate uterus", + "abnormal behavior", "Hyperreflexia", + "abnormal response to external stimulus", + "Abnormality of movement", + "body part movement", "increased qualitatively response to stimulus", - "increased reflex", - "abnormal musculoskeletal movement", - "abnormal behavior", - "decreased embryo development", + "reflex", + "multicellular organismal movement", + "abnormal voluntary musculoskeletal movement", + "neuromuscular process", + "voluntary musculoskeletal movement", + "kinesthetic behavior", + "Recurrent urinary tract infections", + "involuntary movement behavior", "abnormal embryo development", - "Intrauterine growth retardation", - "shape forehead", + "decreased embryo development", + "herniated anatomical entity", + "Abnormality of the abdominal wall", + "abnormal umbilicus morphology", + "umbilicus", + "connective tissue", + "abnormal incomplete closing of the abdominal wall", "herniated abdominal wall", + "Hernia of the abdominal wall", "Abnormal umbilicus morphology", "Abnormality of connective tissue", - "Abnormality of the abdominal wall", - "abnormal abdominal wall", - "Abnormal atrial septum morphology", - "abnormal jaw skeleton morphology", - "decreased qualitatively visual perception", + "Hernia", + "interatrial septum", "abnormal interatrial septum morphology", - "Tetralogy of Fallot", - "Overriding aorta", - "Ventricular hypertrophy", + "abnormal cardiac atrium morphology", + "Abnormal atrial septum morphology", + "abnormal cardiac atrium morphology in the independent continuant", + "Abnormal pulmonary valve physiology", + "abnormality of cardiovascular system physiology", + "skin of eyelid", + "Aplasia/Hypoplasia of the mandible", + "abnormal size of heart right ventricle", + "hypertrophic heart right ventricle", + "interventricular septum", + "metabolic process", "Abnormal cardiac septum morphology", "increased size of the heart right ventricle", - "Abnormal ventriculoarterial connection", - "abnormal interventricular septum morphology", - "Aplasia/Hypoplasia of the radius", - "Abnormal cardiovascular system physiology", - "abnormally increased volume of anatomical entity", "abnormal cardiac septum morphology", + "abnormal hematopoietic cell morphology", + "Abnormal connection of the cardiac segments", + "Ventricular hypertrophy", + "abnormal pulmonary valve morphology", + "cardiac septum", + "abnormally increased volume of anatomical entity", + "hypertrophic cardiac ventricle", + "Abnormal ventricular septum morphology", + "Global developmental delay", + "reflexive behavior", "Right ventricular hypertrophy", - "abnormal heart right ventricle morphology", + "heart layer", + "layer of muscle tissue", + "Abnormal myocardium morphology", + "abnormal myocardium morphology", + "vasculature of organ", + "abnormal female reproductive organ morphology", "abnormally decreased functionality of the anatomical entity", - "abnormally decreased functionality of the myocardium", + "vasculature of trunk", + "heart blood vessel", + "coronary vessel", + "Patent ductus arteriosus", + "heart vasculature", + "response to stimulus", + "ductus arteriosus", + "abnormal abdominal wall", + "embryonic cardiovascular system", + "aplasia or hypoplasia of mandible", + "trunk blood vessel", + "abnormal coronary vessel morphology", "abnormal incomplete closing of the ductus arteriosus", - "abnormal eye movement", - "abnormal artery morphology in the independent continuant", + "abnormal number of anatomical enitites of type myeloid cell", + "thoracic segment blood vessel", + "decreased pigmentation in multicellular organism", + "Congenital malformation of the great arteries", + "cardiac valve", + "internal ear", + "heart left ventricle", + "outflow part of left ventricle", + "Abnormal cardiac ventricle morphology", + "Abnormal heart valve morphology", "abnormal cardiac valve morphology in the independent continuant", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal radius bone morphology", - "abnormal cardiac ventricle morphology in the heart", "abnormal aortic valve morphology", - "abnormal outflow part of left ventricle morphology", + "heart", + "abnormal semi-lunar valve morphology", + "abnormal heart morphology", "abnormal anatomical entity morphology in the heart", + "abnormal internal ear", + "abnormal outflow part of left ventricle morphology", + "aortic valve", + "thoracic cavity blood vessel", + "great vessel of heart", + "bone of jaw", + "aortic system", "Abnormal aortic morphology", - "abnormal great vessel of heart morphology", - "Abnormal morphology of the great vessels", - "flat longitudinal arch of pes", - "decreased qualitatively sensory perception of mechanical stimulus", + "aorta", + "longitudinal arch of pes", "Pes planus", - "abnormality of cardiovascular system physiology", - "flattened anatomical entity in independent continuant", - "abnormality of internal ear physiology", - "abnormally fused pedal digit and anatomical entity", - "abnormally fused pedal digit and pedal digit", + "manual digit digitopodial skeleton", + "cardiac ventricle", + "flat anatomical entity in independent continuant", "flat anatomical entity", - "abnormal cerebral cortex morphology", - "abnormal frontal cortex morphology", - "abnormal neurocranium morphology", - "abnormal vault of skull", - "abnormally protruding anatomical entity", - "abnormal shape of frontal cortex", - "Abnormal calvaria morphology", - "Abnormal cerebral cortex morphology", - "prominent anatomical entity", - "Abnormal frontal bone morphology", - "Abnormal shape of the frontal region", - "abnormal size of heart right ventricle", - "Meckel diverticulum", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal enteric ganglion morphology", - "abnormal ganglion of peripheral nervous system morphology", - "Abnormal peripheral nervous system ganglion morphology", - "Abnormality of enteric ganglion morphology", - "abnormal autonomic nervous system", - "Abnormal autonomic nervous system morphology", - "abnormal ganglion morphology", - "abnormal incomplete closing of the arch of centrum of vertebra", - "Neural tube defect", - "abnormal shape of forehead", - "abnormal tube formation", - "abnormal vertebral column morphology", - "abnormal cerebral hemisphere morphology", - "Abnormal neural tube morphology", - "Conotruncal defect", - "abnormal vertebra morphology", - "decreased biological_process in skin of body", - "abnormal autonomic nervous system morphology", - "abnormal neural tube closure", - "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal vertebral morphology", - "Hernia", - "Vertebral arch anomaly", - "abnormal neural tube morphology", - "Abnormal spinal cord morphology", - "abnormal bony vertebral centrum morphology", - "Spinal dysraphism", - "abnormal opening of the anatomical entity", - "Abnormality of femur morphology", - "abnormal physiologic nystagmus", - "abnormal hindlimb stylopod morphology", - "abnormal size of palpebral fissure", - "abnormal anatomical entity morphology in the skeleton of pelvic complex", - "abnormal femur morphology", - "Lower extremity joint dislocation", - "Abnormal myocardium morphology", - "Abnormal pelvic girdle bone morphology", - "skeletal joint dislocation", - "Abnormal hip joint morphology", - "Abnormality of metabolism/homeostasis", - "abnormal skeletal joint morphology", - "Abnormal hip bone morphology", - "Increased head circumference", - "abnormal pelvic girdle bone/zone morphology", - "anatomical entity dislocation", - "abnormal hip joint morphology", - "abnormal synovial joint of pelvic girdle morphology", - "Joint dislocation", - "abnormal synovial joint morphology", - "Abnormal joint morphology", - "Sloping forehead", - "decreased size of the ulna", - "decreased length of anatomical entity in independent continuant", - "Abnormality of thrombocytes", - "Pulmonic stenosis", - "Upper limb undergrowth", - "decreased length of forelimb zeugopod bone", + "flattened anatomical entity in independent continuant", + "flattened anatomical entity", + "shape longitudinal arch of pes", + "abnormally fused anatomical entity and pedal digit", + "Toe syndactyly", + "neurocranium", + "abnormal head bone morphology", + "abnormal forehead", + "gray matter", + "dermal bone", + "aplasia or hypoplasia of skull", + "frontal lobe", + "pallium", + "lower urinary tract", + "Abnormality of globe location", + "pelvic region of trunk", + "myeloid cell homeostasis", + "glans penis", + "abnormal posterior nasal aperture morphology", + "abnormal internal naris", + "material anatomical entity", + "cranial skeletal system", + "posterior nasal aperture", "decreased size of the anatomical entity in the pectoral complex", - "Hypoplasia of the ulna", - "Abnormal ganglion morphology", - "decreased length of anatomical entity", - "forelimb zeugopod bone hypoplasia", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "Abnormal systemic arterial morphology", - "decreased size of the multicellular organism", - "Abnormality of the inner ear", - "Abnormality of skull size", - "Hypoplastic facial bones", - "decreased qualitatively reproductive process", - "abnormal anterior uvea morphology", - "abnormal parasympathetic ganglion morphology", - "Abnormal hand morphology", + "Abnormal skull morphology", + "anus", + "abnormal nose", + "abnormal skull morphology", + "anus atresia", + "reproductive organ", + "Short long bone", + "dermatocranium", + "Abnormal axial skeleton morphology", + "Cataract", + "subdivision of digestive tract", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Weight loss", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal anus", + "Recurrent infections", + "Morphological central nervous system abnormality", + "organ component layer", + "neural tube formation", + "abnormal common carotid artery plus branches morphology", + "Abnormal anus morphology", + "abnormal anatomical entity mass density", + "outflow tract", + "germ cell", + "arterial system", + "Decreased bone element mass density", + "male germ cell", + "Aplasia/Hypoplasia of the uvula", + "anterior uvea", + "vestibulo-auditory system", "Aplasia/Hypoplasia affecting the uvea", - "Abnormal skeletal morphology", - "Abnormality of the female genitalia", - "Abnormal spermatogenesis", - "abnormal forelimb zeugopod morphology", - "Abnormal uvea morphology", - "hypertrophic heart right ventricle", - "drooping anatomical entity", - "changed biological_process rate in independent continuant", - "abnormal connective tissue", - "Abnormality of limb bone", - "shape eyelid", - "abnormal forelimb zeugopod bone", - "abnormal response to external stimulus", - "herniated anatomical entity", - "aplasia or hypoplasia of uvea", - "abnormal iris morphology", - "abnormal penis", - "Microcephaly", - "Abnormality of the musculoskeletal system", - "Hip dislocation", - "abnormal skeletal system morphology", - "abnormal female reproductive organ morphology", - "abnormal coronary vessel morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Congenital malformation of the great arteries", - "Abnormality of the ocular adnexa", - "abnormal voluntary movement behavior", - "Abnormal forearm bone morphology", - "Abnormal appendicular skeleton morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal phalanx of pes morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal ear physiology", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "abnormal incomplete closing of the interatrial septum", + "transparent eye structure", + "system", + "Ocular anterior segment dysgenesis", + "decreased height of the multicellular organism", + "abnormal anatomical entity morphology in the pelvic complex", "Abnormal right ventricle morphology", - "abnormal olfactory system morphology", - "Abnormality of cardiovascular system morphology", - "abnormal bone of pectoral complex morphology", - "abnormal respiratory system", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "abnormal embryo morphology", - "Abnormal venous morphology", + "Clinodactyly", + "Eumetazoa", + "Eukaryota", + "multi-tissue structure", + "bodily fluid", + "abnormal peripheral nervous system morphology", + "forelimb long bone", + "abnormal size of skull", + "forelimb zeugopod skeleton", + "prepuce", + "subdivision of oviduct", + "limb bone", + "pectoral appendage skeleton", + "skeleton of limb", + "postcranial axial skeletal system", + "Clubbing of toes", + "drooping eyelid", + "Dolichocephaly", + "common carotid artery plus branches", + "ulna endochondral element", + "abnormal shape of cornea", + "abnormal forebrain morphology", + "root", + "bone element", + "Ptosis", + "abnormal limb long bone morphology", + "eukaryotic cell", + "abnormal zone of skin morphology", + "pedal digitopodium bone", + "limb skeleton subdivision", + "Abnormality of the choanae", + "Abnormal cell morphology", + "Abnormal palate morphology", + "skeletal system", + "curved anatomical entity in independent continuant", + "hindlimb skeleton", + "Atypical behavior", + "Abnormal upper limb bone morphology", + "chemosensory system", + "abnormally decreased number of anatomical entity", + "Pulmonic stenosis", + "Abnormal peripheral nervous system morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "Abnormal forearm bone morphology", + "limb segment", + "abnormally formed anatomical entity", + "absent sperm", + "Atrial septal defect", + "drooping anatomical entity", + "Abnormal uvea morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal forelimb zeugopod morphology", + "Abnormal morphology of ulna", + "skeletal element", + "zeugopod", + "Aplasia/Hypoplasia of the iris", + "mouth", + "paired limb/fin", + "abnormal skeletal system", + "Abnormal calvaria morphology", + "Anal atresia", + "abnormally formed anterior chamber of eyeball", + "anatomical conduit", + "septum", + "Abnormality of limb bone morphology", + "abnormal digestive system morphology", + "endochondral bone", + "subdivision of skeleton", + "Abnormal forebrain morphology", + "appendage girdle complex", + "subdivision of head", + "Abnormality of limbs", + "pectoral appendage", + "deviation of manual digit 5 towards the middle", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormal long bone morphology", + "absent sperm in the semen", + "vasculature", + "abnormal cardiovascular system", + "Abnormal reproductive system morphology", "abnormal blood vessel morphology", - "abnormal vascular system morphology", - "Ventriculomegaly", - "sloped anatomical entity", + "Abnormal venous morphology", + "abnormal parasympathetic nervous system morphology", + "abnormal embryo morphology", + "venous blood vessel", + "Umbilical hernia", + "Arteriovenous malformation", + "abnormal connective tissue", + "Abnormal eye morphology", + "abnormal liver", + "embryonic morphogenesis", + "Aplasia/Hypoplasia affecting the eye", + "Functional abnormality of male internal genitalia", + "abnormal vasculature", + "abnormal musculoskeletal movement", + "changed developmental process rate", + "abnormal genitourinary system", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "olfactory system", + "Neoplasm by anatomical site", + "Abnormality of the upper limb", + "cardiovascular system", + "blood vasculature", + "blood vessel", + "penis", + "Orofacial cleft", + "digestive system element", + "Abnormality of body weight", + "abnormal prepuce of penis morphology", + "myocardium", + "external ear", + "abnormal telencephalon morphology", + "Abnormality of the forehead", + "intromittent organ", + "abnormal artery morphology in the independent continuant", + "abnormal cranium morphology", + "Abnormality iris morphology", + "abnormal penis morphology", + "organism", + "secondary palate", + "manual digit phalanx endochondral element", + "Abnormality of the immune system", "abnormal cardiovascular system morphology", "Abnormality of mental function", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormally formed anatomical entity", - "abnormal arch of centrum of vertebra", + "nervous system process", "Neurodevelopmental abnormality", - "aplasia or hypoplasia of radius bone", - "abnormal heart morphology", - "abnormal long bone morphology", + "cerebrospinal fluid", + "forelimb bone", + "Abnormal uvula morphology", + "abnormal cardiac ventricle morphology", + "endochondral element", + "anatomical entity hypoplasia", "abnormal central nervous system morphology", + "abnormal brain ventricle morphology", + "skeletal joint", + "decreased length of forelimb zeugopod bone", + "Abnormality of the nose", + "developmental process involved in reproduction", + "organ system subdivision", + "abnormal nervous system morphology", + "Metazoa", + "abnormal parasympathetic ganglion morphology", + "pedal digit digitopodial skeleton", + "Abnormality of the nervous system", + "abnormality of internal male genitalia physiology", + "Abnormal cardiovascular system physiology", "Abnormal cerebrospinal fluid morphology", - "Abnormal ileum morphology", - "increased qualitatively biological_process in independent continuant", + "forelimb zeugopod bone", + "Abnormal shape of the frontal region", + "central nervous system", + "abnormal arm", + "Abnormality of limb bone", + "autopod endochondral element", + "cognition", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "abnormal nervous system", + "abnormal lens of camera-type eye morphology", + "Hydrocephalus", + "abnormal anus morphology", "abnormally increased number of brain ventricle in the independent continuant", - "bone element hypoplasia in face", - "flattened anatomical entity", - "abnormal manus", - "Abnormality of brain morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal neocortex morphology", - "Abnormality of lower limb joint", + "limb endochondral element", + "abnormal brain ventricle/choroid plexus morphology", + "ventricular system of central nervous system", + "anatomical entity dysfunction in independent continuant", "abnormal brain morphology", - "abnormal brain ventricle morphology", - "Abnormality of the nose", - "Abnormal nervous system morphology", - "Aganglionic megacolon", - "abnormal spinal cord morphology", - "abnormal limb bone", - "increased size of the anatomical entity", - "Abnormality of the vasculature", - "abnormal hindlimb joint", - "asymmetrically curved anatomical entity", - "abnormal location of anatomical entity", - "shape cornea", - "Abnormal cardiac ventricle morphology", - "Abnormality of refraction", - "Cognitive impairment", - "abnormal respiratory system morphology", - "Abnormal small intestine morphology", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormal renal physiology", - "abnormal female reproductive system morphology", - "abnormal skeletal system", - "Ptosis", - "Multiple cafe-au-lait spots", - "abnormal anatomical entity", - "abnormal artery morphology", - "abnormal bone of pelvic complex morphology", - "Abnormal forearm morphology", - "malformed anatomical entity", - "Abnormality of corneal shape", + "abnormal heart layer morphology", + "Abnormal frontal bone morphology", + "Abnormality of lower limb joint", + "decreased biological_process", + "abnormal neocortex morphology", + "Abnormal cerebral ventricle morphology", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormally increased number of anatomical entity", + "Abnormal preputium morphology", + "abnormal anatomical entity, asymmetrically curved", + "manual digit", + "sensory perception", "abnormality of anatomical entity mass", - "Ventricular septal defect", + "Abnormality of corneal shape", + "segment of autopod", + "Abnormal anterior eye segment morphology", "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "paralysed anatomical entity", - "abnormal nervous system morphology", - "Abnormal cellular immune system morphology", + "cerebral hemisphere", "abnormal cornea, asymmetrically curved", - "Astigmatism", - "abnormal pulmonary valve morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal multicellular organismal reproductive process", - "abnormal anatomical entity, asymmetrically curved", - "abnormal ocular surface region morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal brain ventricle/choroid plexus morphology", - "decreased qualitatively developmental process", - "abnormal vein morphology", - "Microphthalmia", - "abnormal external ear morphology", - "Decreased body weight", - "Arteriovenous malformation", - "Abnormal eye morphology", - "deviation of digit towards the middle", - "Abnormal long bone morphology", - "absent sperm in the semen", - "Abnormal eye physiology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", + "Abnormal cellular immune system morphology", + "endocrine gland", + "nose", + "neuron projection bundle", + "Abnormal spinal cord morphology", + "Abnormal ear physiology", + "ecto-epithelium", + "abnormal closing of the anatomical entity", + "cell", + "abnormal interventricular septum morphology", + "Abnormality of the mouth", + "abnormal ductus arteriosus morphology", + "Finger syndactyly", + "ocular surface region", "abnormal internal genitalia", - "Abnormal tracheobronchial morphology", - "abnormal myocardium morphology", + "Finger clinodactyly", + "epithelial tube", + "curvature anatomical entity", + "vessel", + "lateral structure", + "pulmonary valve", + "cellular organisms", + "bone of free limb or fin", + "abnormal pedal digit morphology", + "abnormal ear", + "absent sperm in the independent continuant", + "pelvic region element", + "All", + "Abnormal bone structure", + "Abnormality of male external genitalia", + "abnormal behavior process", + "abnormal axial skeleton plus cranial skeleton morphology", + "absent anatomical entity in the semen", + "olfactory organ", + "Abnormality of the gastrointestinal tract", + "abnormal number of anatomical enitites of type anatomical entity", + "absent gamete", + "iris", + "naris", + "Small intestinal stenosis", + "male gamete generation", + "Abnormal spermatogenesis", + "anatomical entity atresia", + "abnormally fused manual digit and manual digit", + "arm", + "abnormal bone of pelvic complex morphology", + "vertebra", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "developmental process", + "abnormal ureter", + "absent anatomical entity in the independent continuant", + "manual digit 1 or 5", + "abdominal segment bone", + "gonad", + "abnormal ulna morphology", + "Decreased anatomical entity mass density", + "ganglion", + "sensory system", + "abnormal forelimb morphology", + "abnormal autonomic nervous system", + "upper limb segment", + "biological_process", + "abnormal reproductive process", + "opaque lens of camera-type eye", + "abnormal shape of external ear", + "abnormal shape of continuant", + "camera-type eye", + "Hypertrophic cardiomyopathy", "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "Recurrent infections", - "asymmetrically curved cornea", - "abnormal mandible morphology", - "flat anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the iris", - "Hydrocephalus", - "abnormal lens of camera-type eye morphology", - "Abnormal cellular phenotype", - "Abnormal size of the palpebral fissures", - "hip dislocation", - "Abnormality of the testis size", - "abnormal size of multicellular organism", - "Renal insufficiency", - "Abnormal toe morphology", - "Abnormal anterior eye segment morphology", - "abnormal asymmetry of anatomical entity", - "abnormal face", - "abnormal aorta morphology", - "Abnormal eyelid morphology", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal male urethral meatus morphology", - "absent sperm", - "Abnormal heart morphology", - "abnormality of reproductive system physiology", - "abnormal limb bone morphology", - "opaque lens of camera-type eye", - "abnormal shape of external ear", - "abnormal testis morphology", - "Abnormality of chromosome stability", - "anatomical entity dysfunction in independent continuant", - "Abnormality of the urethra", - "abnormal incomplete closing of the secondary palate", - "Abnormal testis morphology", + "neural tube development", + "external genitalia", + "abnormal anatomical entity morphology in the brain", + "abnormal male reproductive system morphology", + "mesoderm-derived structure", + "autopod bone", + "Aplasia/Hypoplasia affecting the anterior segment of the eye", + "Abnormality of the genital system", + "intramembranous bone", + "pelvic complex", + "anatomical line between pupils", + "multicellular organismal process", + "bone of pelvic complex", + "organ part", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormal hip joint morphology", + "Abnormality of the head", + "abnormal blood cell morphology", "abnormal cell", - "abnormal ileum morphology", - "abnormal eyelid morphology", - "Abnormal mandible morphology", - "abnormally decreased number of cell", - "Abnormal jaw morphology", - "Abnormal aortic valve morphology", - "abnormal ear", - "abnormal autopod region morphology", - "abnormal response to stimulus", - "abnormal closing of the anatomical entity", - "abnormal size of anatomical entity", - "abnormal joint of girdle morphology", - "aplasia or hypoplasia of palatine uvula", - "shape longitudinal arch of pes", - "abnormally fused digit and anatomical entity", - "abnormal digestive system", - "deviation of manual digit towards the middle", - "abnormal craniocervical region", - "Abnormal ear morphology", - "abnormal mouth", - "aplasia or hypoplasia of skeleton", - "abnormal visual perception", + "male reproductive organ", + "disconnected anatomical group", + "abnormal size of head", + "abnormal external genitalia", + "radius endochondral element", + "Abnormal renal morphology", + "Abnormality of the male genitalia", + "Abnormality of blood and blood-forming tissues", + "abnormality of multicellular organism height", + "abnormal limb morphology", + "upper urinary tract", + "right cardiac chamber", + "manual digitopodium region", + "abnormal enteric nervous system morphology", "phenotype by ontology source", - "abnormal ocular adnexa morphology", - "Abnormality of the urinary system physiology", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "abnormal common carotid artery plus branches morphology", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "hypertrophic multicellular anatomical structure", - "abnormal kidney", - "abnormal reproductive system", - "bicornuate uterus", - "abnormal number of anatomical enitites of type leukocyte", - "absent gamete", - "abnormal phenotype by ontology source", - "Hypogonadism", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormality of enteric nervous system morphology", - "Abnormality of the abdominal organs", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal form of the vertebral bodies", - "entity", - "abnormal head morphology", - "Pyridoxine-responsive sideroblastic anemia", - "Small intestinal stenosis", - "Abnormal oral cavity morphology", - "abnormal spatial pattern of anatomical entity", - "Abnormal blood vessel morphology", - "Abnormality of the face", - "Abnormal ventricular septum morphology", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "Syndactyly", - "abnormally fused anatomical entity and pedal digit", - "Azoospermia", - "abnormal cornea morphology", - "continuant", - "abnormal craniocervical region morphology", - "Slanting of the palpebral fissure", - "decreased biological_process in multicellular organism", - "quality", - "Abnormality of the genitourinary system", - "Clinodactyly", - "Abnormality of the cardiovascular system", - "decreased qualitatively biological_process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal trachea morphology", - "Abnormality of the peripheral nervous system", - "Abnormal heart valve physiology", - "increased qualitatively biological_process", - "abnormally increased number of anatomical entity in the independent continuant", + "abnormal cerebrospinal fluid morphology", + "zeugopodial skeleton", + "abnormal amniotic fluid", + "subdivision of organism along appendicular axis", + "Abnormal male reproductive system physiology", + "increased biological_process", + "transudate", + "Abnormal joint morphology", + "anterior region of body", "abnormal head", - "abnormal sensory perception of light stimulus", - "abnormal orbital region", - "abnormal innominate bone morphology", - "Abnormal anterior chamber morphology", + "artery", + "jaw region", + "epithelium development", + "Abnormality of the testis size", + "hip dislocation", + "Abnormal cellular phenotype", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "Abnormal bone ossification", + "reproductive structure", + "tunica fibrosa of eyeball", + "abnormal limb bone morphology", + "anatomical system", + "upper digestive tract", + "musculature of body", + "nerve of head region", + "internal naris atresia", + "testis", + "non-connected functional system", + "abnormal growth", + "abnormal craniocervical region morphology", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "appendage girdle region", + "platelet", "Growth abnormality", - "abnormal anatomical entity morphology in the pelvic complex", - "Ocular anterior segment dysgenesis", - "Abnormal localization of kidney", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormal reproductive system morphology", + "hip", + "Abnormal anterior chamber morphology", + "abnormal innominate bone morphology", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal orbital region", + "simple eye", "abnormal male reproductive organ morphology", - "decreased developmental process", - "Abnormality iris morphology", - "Abnormality of the nervous system", - "abnormality of internal male genitalia physiology", + "occurrent", + "pedal digit phalanx endochondral element", "abnormality of nervous system physiology", - "Abnormal external genitalia", - "abnormality of male reproductive system physiology", - "abnormal palatine uvula morphology", - "Cardiomyopathy", - "Irregular hyperpigmentation", - "abnormal appendicular skeleton morphology", - "abnormal semi-lunar valve morphology", - "abnormality of cranial nerve physiology", - "Anemia of inadequate production", - "curved anatomical entity in independent continuant", - "abnormally formed anatomical entity in independent continuant", - "abnormal pigmentation in independent continuant", - "abnormal respiratory tube morphology", - "Abnormal cerebral ventricle morphology", - "clavate digit", - "abnormal cardiovascular system", - "Abnormal reproductive system morphology", - "Aplasia/Hypoplasia affecting the anterior segment of the eye", - "abnormal face morphology", - "increased height of the anatomical entity", - "abnormal upper urinary tract", - "Limb undergrowth", - "Abnormal connection of the cardiac segments", - "Abnormality of reproductive system physiology", - "Craniofacial cleft", - "Abnormal facial shape", - "Decreased fertility", - "curvature anatomical entity in independent continuant", - "abnormal limb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "Abnormality of bone mineral density", + "abnormal reproductive system morphology", + "Phenotypic abnormality", + "abnormal aorta morphology", + "increased pigmentation in skin of body", + "Overriding aorta", + "trachea", + "Abnormality of the skeletal system", + "Deviation of finger", + "organ", + "pedal digit plus metapodial segment", + "reproduction", + "Abnormal eye physiology", + "asymmetrically curved anatomical entity", + "abnormal systemic artery morphology", + "male organism", + "abnormal hindlimb joint", + "hindlimb", + "continuant", + "Intrauterine growth retardation", + "abnormal cornea morphology", + "entire sense organ system", + "Tracheoesophageal fistula", + "Abnormal cardiac atrium morphology", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal manual digit morphology in the manus", + "abnormality of internal ear physiology", + "abnormal tetrapod frontal bone morphology", + "abnormal eyelid morphology", + "manus", + "exocrine system", + "Abnormality of the genitourinary system", + "absent germ cell", + "Abnormal heart valve physiology", + "changed biological_process rate", "Abnormality of the outer ear", "abnormal gamete", - "abnormality of camera-type eye physiology", - "abnormal gamete generation", - "abnormal number of anatomical enitites of type sperm", - "Abnormal pulmonary valve morphology", - "Aplasia/Hypoplasia of the testes", - "abnormal ear morphology", - "abnormal peripheral nervous system morphology", - "deviation of manual digit", - "Patent ductus arteriosus", - "abnormal head bone morphology", - "Abnormal pinna morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormal voluntary musculoskeletal movement", - "Abnormal anus morphology", - "abnormally increased number of anatomical entity", - "Abnormal involuntary eye movements", + "quality", + "Slanting of the palpebral fissure", + "ectoderm-derived structure", + "valve", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "palpebral fissure", + "abnormal head morphology", "decreased spermatogenesis", - "abnormal kidney morphology", - "absent sperm in the independent continuant", - "abnormal anatomical entity, curved", - "Hypertrophic cardiomyopathy", - "absent anatomical entity in the multicellular organism", - "abnormal secondary palate morphology", - "abnormal developmental process", - "Abnormal cornea morphology", - "Clubbing of toes", - "abnormal spermatogenesis", - "Abnormal morphology of ulna", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal penis morphology", + "digestive tract", + "abnormal shape of frontal cortex", + "abnormal great vessel of heart morphology", + "frontal cortex", + "Displacement of the urethral meatus", + "nervous system", + "abnormal face", + "abnormally decreased number of anatomical entity in the independent continuant", + "Short palpebral fissure", + "Abnormal skeletal morphology", + "increased pigmentation", + "vault of skull", + "skeleton of pectoral complex", + "specifically dependent continuant", + "organism substance", + "female reproductive organ", + "ocular adnexa", + "aplasia or hypoplasia of anatomical entity", + "limb long bone", + "compound organ", + "eye", + "subdivision of organism along main body axis", + "cranium", + "abnormal ileum morphology", + "neural tube closure", + "curved anatomical entity", + "internal male genitalia", + "digestive system", + "decreased length of long bone", + "anatomical entity", + "musculoskeletal movement", + "decreased qualitatively biological_process", "abnormal ocular adnexa", - "Non-obstructive azoospermia", - "Abnormal cardiac atrium morphology", - "Intellectual disability", - "Hypermelanotic macule", - "Abnormal foot morphology", - "abnormally localised testis", - "Abnormal preputium morphology", - "absent anatomical entity in the independent continuant", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal cardiac valve morphology", - "abnormal anatomical entity morphology in the manus", - "aplasia or hypoplasia of anatomical entity", - "decreased biological_process", - "Atrial septal defect", - "Aplasia/hypoplasia of the extremities", - "Abnormality of the genital system", - "abnormal shape of continuant", - "abnormal incomplete closing of the interventricular septum", - "abnormal heart left ventricle morphology", - "abnormal reproductive process", - "Abnormal reflex", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal forehead", - "Abnormality of male external genitalia", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "Hearing abnormality", - "abnormal esophagus morphology", - "Abnormal heart valve morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "abnormally fused anatomical entity and digit", - "abnormal forelimb morphology", - "abnormal digestive system morphology", - "Absent testis", - "Abnormal male reproductive system physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "increased length of the anatomical line between pupils", - "abnormally formed anterior chamber of eyeball", - "Abnormal carotid artery morphology", - "changed developmental process rate", - "abnormal genitourinary system", - "abnormal vasculature", - "Morphological abnormality of the gastrointestinal tract", - "Abnormal esophagus morphology", - "Abnormality of prenatal development or birth", - "Abnormal tracheal morphology", - "shape palpebral fissure", - "abnormal male reproductive system morphology", - "phenotype", - "Aplasia/Hypoplasia of the uvula", - "Abnormality of the gastrointestinal tract", - "Hydroureter", - "abnormal nervous system", - "decreased qualitatively biological_process in independent continuant", - "Tracheoesophageal fistula", - "Abnormal intestine morphology", - "Neoplasm", - "abnormal tracheobronchial tree morphology", - "Anal atresia", - "abnormal small intestine", - "abnormal anus", - "Atypical behavior", - "increased size of the brain ventricle", - "Abnormality of the anus", - "Decreased multicellular organism mass", - "abnormal cardiac ventricle morphology", - "abnormal leg", - "Abnormal pulmonary valve physiology", - "abnormality of multicellular organism mass", - "Abnormality of the upper limb", - "Neoplasm by anatomical site", + "hepatobiliary system", + "subdivision of skeletal system", + "bone of pectoral complex", + "decreased length of anatomical entity", + "Abnormal ganglion morphology", "Decreased anatomical entity mass", - "Weight loss", - "Abnormality of the forehead", - "abnormal prepuce of penis morphology", - "abnormal telencephalon morphology", - "Abnormal lower limb bone morphology", - "abnormal growth", - "abnormal cornea, curved", - "abnormally fused anatomical entity and manual digit", - "abnormal leukocyte morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Cataract", - "abnormal systemic arterial system morphology", - "decreased multicellular organism mass", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of the skin", + "entity", + "Abnormal form of the vertebral bodies", + "Hypogonadism", + "arm bone", + "urethral opening", + "abnormal spinal cord morphology", + "Aganglionic megacolon", + "Abnormal nervous system morphology", + "sense organ", + "multicellular organismal reproductive process", + "Abnormal testis morphology", + "deviation of anatomical entity towards the middle", + "forelimb endochondral element", "abnormal duodenum morphology", - "abnormal external genitalia", - "Abnormal renal morphology", - "opaque anatomical entity", - "Abnormal lens morphology", - "drooping eyelid", - "Bicornuate uterus", - "Abnormality of movement", - "abnormal cranium morphology", - "Abnormal axial skeleton morphology", - "internal naris atresia", - "abnormal phalanx morphology", - "Abnormal skull morphology", - "abnormal internal naris", - "Choanal atresia", - "posterior nasal aperture atresia", - "Short long bone", - "anus atresia", - "abnormal palpebral fissure", - "abnormal skull morphology", - "abnormally decreased number of myeloid cell", - "Aplasia/Hypoplasia of the mandible", - "abnormal incomplete closing of the abdominal wall", - "abnormal nose", - "Abnormality of the choanae", - "abnormal ureter morphology", - "Aplasia/Hypoplasia of facial bones", - "abnormal posterior nasal aperture morphology", + "outflow tract of ventricle", + "Abnormality of the skin", + "abnormal leukocyte morphology", + "clavate digit", + "shape eyelid", + "external soft tissue zone", + "digit plus metapodial segment", + "head", + "material entity", + "increased reflex", + "long bone", "Abnormality of the orbital region", - "abnormal nerve", - "Abnormality of the lower urinary tract", - "Displacement of the urethral meatus", - "abnormal urethra", - "abnormal renal system", - "Abnormality of the autonomic nervous system", - "Abnormality of the amniotic fluid", - "decreased pigmentation in independent continuant", - "Hypospadias", - "Morphological central nervous system abnormality", - "abnormal anus morphology", - "Abnormality of the urinary system", - "abnormal shape of palpebral fissure", - "Abnormal shape of the palpebral fissure", - "abnormal vertebral column", - "All", - "Abnormal bone structure", - "Abnormal curvature of the vertebral column", - "abnormal cardiac atrium morphology", - "Scoliosis", - "Abnormality of the vertebral column", - "Macule", - "Hearing impairment", - "abnormal external male genitalia", - "abnormal anatomical entity morphology in the brain", - "abnormal shape of cornea", - "abnormal forebrain morphology", - "abnormal parasympathetic nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "abnormally protruding eyeball of camera-type eye", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Leukopenia", - "Abnormal forebrain morphology", - "abnormally decreased number of anatomical entity in the blood", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal hematopoietic system", - "abnormally decreased number of hematopoietic cell", - "Abnormal uterus morphology", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "anatomical entity atresia", - "abnormally fused manual digit and manual digit", + "roof of mouth", + "Microphthalmia", + "absent anatomical entity in the multicellular organism", + "abnormal anterior uvea morphology", + "abnormal small intestine morphology", + "Abnormality of brain morphology", + "abnormal reproductive system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "Abnormality of head or neck", + "abnormally fused manual digit and anatomical entity", + "postcranial axial skeleton", + "Decreased body weight", + "autopodial extension", + "forehead", + "abnormal vein morphology", + "abnormal external ear morphology", + "decreased qualitatively developmental process", + "Abnormal penis morphology", + "Intellectual disability", + "eyelid", "Abnormality of the ear", "abnormally decreased number of leukocyte", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "prominent forehead", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal immune system", - "abnormal enteric nervous system morphology", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal immune system morphology", - "abnormal platelet", - "Spina bifida", - "Aplasia/hypoplasia involving bones of the extremities", + "forelimb skeleton", + "decreased qualitatively reproductive process", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Sloping forehead", + "abnormal manual digit 5 morphology", + "Abnormal systemic arterial morphology", + "multicellular anatomical structure", + "hematopoietic system", + "Abnormal reflex", + "abnormal anatomical entity morphology", + "hindlimb joint", + "spermatogenesis", + "abnormal shape of palpebral fissure", + "abnormal camera-type eye morphology", + "Abnormal eyelid morphology", + "gamete generation", + "protein-containing material entity", "abnormally decreased number of cell in the independent continuant", - "Reduced bone mineral density", - "Hematological neoplasm", - "Anemia", - "Abnormality of the hand", - "Myelodysplasia", - "Frontal bossing", - "abnormal size of brain ventricle", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal liver", - "Abnormality of the liver", - "Abnormality of the head", - "abnormal anterior chamber of eyeball morphology", - "abnormal pigmentation", - "abnormal hypothalamus-pituitary axis", - "abnormal uvea morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "Strabismus", - "abnormal embryonic tissue morphology", - "Abnormality of globe location", - "aplasia or hypoplasia of iris", - "Abnormality of skin pigmentation", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity topology in independent continuant", - "abnormal asymmetry of face", - "abnormal umbilicus morphology", - "abnormal heart layer morphology", - "Hypertelorism", - "Toe syndactyly", - "abnormal location of eyeball of camera-type eye", - "hypertrophic cardiac ventricle", - "increased anatomical entity length in independent continuant", - "abnormal cerebrospinal fluid morphology", - "abnormal amniotic fluid", - "Oligohydramnios", - "abnormal soft palate morphology", - "Abdominal wall defect", - "Abnormal ocular adnexa morphology", - "abnormal late embryo", + "abnormal hematopoietic system", + "asymmetrically curved cornea", + "abnormality of anatomical entity height", + "abnormal heart right ventricle morphology", + "neural crest-derived structure", + "epithelial tube formation", + "abnormal number of anatomical enitites of type sperm", + "external male genitalia", + "Abnormal external genitalia", + "Abnormality of the peripheral nervous system", + "trunk region element", + "malformed anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "organism subdivision", + "abnormality of camera-type eye physiology", + "endocrine system", + "immune system", + "Abnormality of the curvature of the cornea", + "abnormal gamete generation", + "leukocyte", + "Abnormal facial shape", + "tube morphogenesis", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of the urinary system", + "abnormality of reproductive system physiology", + "sexual reproduction", + "abnormal synovial joint of pelvic girdle morphology", + "reproductive system", + "opaque anatomical entity", + "system process", + "male gamete", + "visual system", + "lower respiratory tract", + "cell differentiation", + "abnormal cerebral cortex morphology", + "abnormal arch of centrum of vertebra", + "bone of appendage girdle complex", + "anatomical wall", + "Abnormality of the urethra", + "abnormal limb", + "immaterial entity", + "Abnormality of metabolism/homeostasis", + "forelimb zeugopod", + "abnormal testis morphology", + "left cardiac chamber", + "Aplasia/Hypoplasia of the testes", + "Proptosis", + "changed embryo development rate", + "hindlimb stylopod", + "Abnormal esophagus morphology", + "Cognitive impairment", + "organ subunit", + "abnormal male reproductive system", + "abnormal mouth morphology", + "abnormal bone element mass density", + "main body axis", + "obsolete multicellular organism reproduction", + "Abnormality of the palpebral fissures", + "decreased developmental process", + "internal genitalia", + "aplasia or hypoplasia of iris", + "Abnormality of skin pigmentation", + "upper jaw region", + "gamete", + "tube formation", + "Abnormality of reproductive system physiology", + "process", + "decreased size of the eyeball of camera-type eye", + "absent anatomical entity", + "limb", + "heart right ventricle", + "lens of camera-type eye", + "increased size of the anatomical entity", + "respiratory system", + "hip joint", + "abnormal ear morphology", + "abnormal cardiac atrium morphology in the heart", + "morphogenesis of embryonic epithelium", + "haploid cell", + "abnormal external male genitalia", + "abnormal tracheobronchial tree morphology", + "internal naris", + "sperm", + "reproductive process", + "abnormally formed anatomical entity in independent continuant", + "body proper", + "abnormal respiratory tube morphology", + "Abnormal morphology of female internal genitalia", + "anatomical cluster", + "blood", + "phenotype", + "abnormal pigmentation in independent continuant", + "Abnormal involuntary eye movements", + "Abnormal tracheal morphology", + "abnormal craniocervical region", + "Abnormal ear morphology", + "abnormal postcranial axial skeleton morphology", + "Opisthokonta", + "Abnormality of the ocular adnexa", + "Abnormality of digestive system morphology", + "ear", + "Abnormal erythroid lineage cell morphology", + "abnormal peripheral nervous system", + "orbital region", + "Abnormal pinna morphology", + "Reduced bone mineral density", + "Myelodysplasia", + "Abnormal facial skeleton morphology", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "physiologic nystagmus", + "hemolymphoid system", + "Nystagmus", + "esophagus", + "Lower extremity joint dislocation", + "vestibulo-ocular reflex", + "neocortex", + "Abnormality of refraction", + "digit 5", + "abnormal cardiac ventricle morphology in the independent continuant", + "abnormal iris morphology", + "abnormal long bone morphology", + "digitopodium bone", + "endoderm-derived structure", + "abnormal penis", + "abnormal artery morphology", + "respiratory tract", + "germ line cell", + "bone element hypoplasia in independent continuant", + "respiratory tube", + "glans", + "abnormality of multicellular organism mass", + "subdivision of tube", + "Abnormal lens morphology", + "Abnormal respiratory system morphology", + "Multiple cafe-au-lait spots", + "abnormal digestive system", + "skeleton", + "multicellular organism", + "thoracic cavity element", + "flat longitudinal arch of pes", + "abnormal bone of pectoral complex morphology", + "orifice", + "abnormal respiratory system", + "Morphological abnormality of the gastrointestinal tract", + "oral cavity", + "abnormal alimentary part of gastrointestinal system morphology", + "abnormal incomplete closing of the anatomical entity", + "venous system", + "abnormal trachea morphology", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "behavior process", + "anterior chamber of eyeball", + "abnormal development of anatomical entity", + "Abnormal ventriculoarterial connection", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "Abnormal morphology of the great vessels", + "pectoral complex", + "abnormality of male reproductive system physiology", + "craniocervical region", + "Abnormality of cardiovascular system morphology", + "abnormal developmental process", + "gland", + "Abnormal cornea morphology", + "abnormal secondary palate morphology", + "tube", + "thoracic segment of trunk", + "pes bone", + "viscus", + "vertebral element", + "respiratory airway", "abnormal biological_process", + "abnormal cardiac ventricle morphology in the heart", "Growth delay", - "delayed biological_process", - "sloped forehead", - "Short forearm", - "Duodenal stenosis", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "shape anatomical entity in independent continuant", - "abnormal manual digit morphology in the independent continuant", - "abnormal manual digit 5 morphology", - "abnormal intestine morphology", - "Abnormal duodenum morphology", - "Abnormality of the lower limb", - "abnormal digit morphology", - "Abnormality of eye movement", - "concave 3-D shape anatomical entity", + "kidney", + "Abnormality of the respiratory system", + "girdle skeleton", + "Hip dislocation", + "abnormal anatomical entity", + "Abnormality of the upper urinary tract", + "cornea", + "abdominal wall", "3-D shape anatomical entity", + "circulatory organ", + "uvea", + "shape cornea", + "paired limb/fin segment", + "pelvic girdle region", + "abnormal alimentary part of gastrointestinal system", + "Abnormal carotid artery morphology", + "Astigmatism", + "renal system", + "abnormally fused anatomical entity and manual digit", + "abnormal renal system", + "Abnormality of the lower urinary tract", + "posterior nasal aperture atresia", + "Hypospadias", + "epicanthal fold", + "hindlimb long bone", + "abnormal lower urinary tract", + "segment of pes", + "voluntary movement behavior", + "Renal hypoplasia/aplasia", + "abnormal urethra", + "Abnormal male urethral meatus morphology", + "excretory system", + "renal pelvis/ureter", + "male urethral meatus", + "primary neural tube formation", + "thoracic segment organ", + "urethra", + "gray matter of telencephalon", + "urethral meatus", + "Abnormality of prenatal development or birth", + "male urethra", + "Abdominal wall defect", "Almond-shaped palpebral fissure", + "head bone", "shape digit", "Clubbing", - "Abnormal cellular physiology", - "3-D shape anatomical entity in independent continuant", - "Abnormal digit morphology", - "abnormal hindlimb morphology", - "abnormality of immune system physiology", - "Phenotypic abnormality", - "increased pigmentation in skin of body", - "Abnormal toe phalanx morphology", - "Hyperpigmentation of the skin", - "abnormal digit", - "abnormal pedal digit morphology", - "abnormal renal system morphology", - "Visual impairment", - "abnormal anterior segment of eyeball morphology", - "Abnormality of the upper urinary tract", - "Decreased fertility in males", - "abnormal oral cavity morphology", - "Abnormal soft palate morphology", - "abnormal male reproductive system", - "abnormal mouth morphology", - "clavate anatomical entity", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "Hernia of the abdominal wall", - "Abnormal palate morphology", + "cranial neuron projection bundle", + "abnormal spermatogenesis", + "Abnormal shape of the palpebral fissure", + "Short stature", + "Abnormality of the vertebral column", + "abnormal vertebral column", + "vertebral column", + "Scoliosis", + "Abnormal curvature of the vertebral column", + "abnormality of renal system physiology", + "abnormal esophagus morphology", + "abnormal size of anatomical entity", + "Abnormality of the abdominal organs", + "autopod region", + "Abnormal forearm morphology", + "Abnormality of enteric nervous system morphology", + "regional part of nervous system", "Abnormal midface morphology", - "abnormal midface morphology", - "decreased qualitatively pigmentation in independent continuant", - "abnormal lower urinary tract", - "Renal hypoplasia/aplasia", - "Neurodevelopmental delay", - "abnormal skin of body", - "Epicanthus", + "Abnormal vascular morphology", + "Abnormality of skull size", + "Deviation of the 5th finger", + "regional part of brain", + "Abnormal pulmonary valve morphology", + "abnormal anterior chamber of eyeball morphology", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "telencephalon", + "Hearing impairment", + "abnormal neurocranium morphology", + "Decreased head circumference", + "Hematological neoplasm", + "abnormal immune system morphology", + "lobe of cerebral hemisphere", + "axial skeleton plus cranial skeleton", + "Abnormal leukocyte morphology", + "abnormal number of anatomical entities of type anatomical entity in blood", + "Leukopenia", + "abnormal kidney", + "abnormal number of anatomical enitites of type leukocyte", + "abnormal ocular adnexa morphology", + "abnormally decreased number of hematopoietic cell", + "abnormal uvea morphology", + "abnormally decreased number of leukocyte in the independent continuant", + "Abnormality of thrombocytes", + "Abnormal immune system morphology", + "digit 1 plus metapodial segment", + "synovial joint", + "Abnormality of the anus", + "abnormal immune system", + "pedal digitopodium region", + "abnormal number of anatomical enitites of type hematopoietic cell", + "abnormally decreased number of cell", + "Functional abnormality of the inner ear", + "pedal digit", + "Facial asymmetry", + "Abnormal leukocyte count", + "abnormally decreased number of anatomical entity in the multicellular organism", + "digit 5 plus metapodial segment", + "abnormally decreased number of leukocyte in the blood", + "semi-lunar valve", + "hematopoietic cell", + "motile cell", + "abnormal leg", + "nucleate cell", + "haemolymphatic fluid", + "systemic artery", + "delayed biological_process", + "decreased pigmentation in independent continuant", + "tissue development", + "delayed growth", + "Abnormality of vision", + "Non-obstructive azoospermia", "increased size of the anatomical entity in independent continuant", + "central nervous system gray matter layer", + "chamber of eyeball", + "pedal digit bone", + "cardiac atrium", "Abnormality of the integument", - "abnormal cardiac valve morphology in the heart", + "abnormal size of brain ventricle", + "jaw skeleton", + "abnormal uterus morphology", + "hindlimb bone", + "exocrine gland", + "Decreased fertility", + "glandular system", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "forelimb", + "skeleton of pelvic complex", + "behavior", + "abdomen element", + "Abnormality of the liver", + "liver", + "Visual impairment", + "ulna", + "deviation of manual digit towards the middle", + "abdomen", + "abdominal segment of trunk", + "Conotruncal defect", + "digestive system gland", + "musculoskeletal system", + "abdominal segment element", + "abnormal hypothalamus-pituitary axis", + "curvature anatomical entity in independent continuant", + "hypothalamus-pituitary axis", + "abnormal anatomical entity topology in independent continuant", + "non-material anatomical boundary", + "Hypertelorism", + "abnormal anatomical entity length", + "increased anatomical entity length in independent continuant", + "abnormally fused pedal digit and anatomical entity", + "abnormal location of anatomical entity", + "Renal insufficiency", + "late embryo", + "Cardiomyopathy", + "flat bone", "increased length of the anatomical entity", "Cafe-au-lait spot", - "Abnormality of the palpebral fissures", - "deviation of anatomical entity towards the middle", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", - "ulna hypoplasia", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal integument", - "abnormal external ear", - "increased biological_process", - "abnormal peripheral nervous system", - "Abnormal cranial nerve physiology", - "Cranial nerve paralysis", - "paralysed cranial nerve", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "Abnormal peripheral nervous system morphology", - "abnormal tetrapod frontal bone morphology", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "Aplasia/hypoplasia involving the skeleton", + "abnormal anatomical entity, curved", + "anatomical line", + "immaterial anatomical entity", + "heart plus pericardium", + "gray matter of forebrain", + "Oligohydramnios", + "amniotic fluid", + "bone of hip region", + "Aplasia/hypoplasia of the extremities", + "response to external stimulus", + "Abnormality of the amniotic fluid", + "Abnormality of the autonomic nervous system", + "Absent testis", + "embryo", + "skeleton of lower jaw", + "abnormal small intestine", + "cavitated compound organ", + "Abnormal duodenum morphology", + "Azoospermia", + "Abnormal small intestine morphology", + "Ventricular septal defect", + "small intestine", + "duodenum", + "abnormal phalanx morphology", + "pes", + "abnormal forehead morphology", + "Abnormal lower limb bone morphology", + "nervous system cell part layer", + "aplasia or hypoplasia of uvea", + "abnormal pes morphology", + "pelvic appendage", + "multi-limb segment region", + "ventricle of nervous system", + "paralysed anatomical entity", + "digitopodium region", + "acropodium region", + "tube development", + "abnormal digit", + "abnormal skeletal system morphology", + "lower limb segment", + "abnormal autopod region morphology", + "Duodenal stenosis", + "Abnormal foot morphology", + "Hypermelanotic macule", + "skeleton of pedal digitopodium", + "leg", + "abnormal incomplete closing of the interventricular septum", + "Abnormal toe morphology", + "skeleton of pes", + "abnormal hindlimb morphology", + "Abnormal digit morphology", + "digit", + "Abnormality of the lower limb", + "3-D shape anatomical entity in independent continuant", + "shape forehead", + "posterior region of body", + "phalanx endochondral element", + "abnormal phalanx of pes morphology", + "prepuce of penis", + "concave 3-D shape anatomical entity", + "abnormal heart left ventricle morphology", + "leg bone", + "clavate anatomical entity", + "Hydroureter", + "Abnormal uterus morphology", + "Abnormal oral morphology", + "abnormal digit morphology", + "skeleton of digitopodium", + "multicellular organismal-level homeostasis", + "anterior segment of eyeball", + "chordate embryonic development", + "individual digit of digitopodial skeleton", + "Choanal atresia", + "acropodial skeleton", + "skeleton of pedal acropodium", + "vertebral centrum element", + "pelvic appendage skeleton", + "hindlimb endochondral element", + "phalanx", + "abnormally decreased number of anatomical entity in the blood", + "phalanx of pes", + "genitourinary system", + "Limb undergrowth", + "Abnormality of the kidney", + "abnormal kidney morphology", + "skull", + "femur", + "Decreased fertility in males", + "abnormal midface morphology", + "shape palpebral fissure", + "abnormal palatine uvula morphology", + "abnormal oral cavity morphology", + "abnormal soft palate morphology", + "anatomical projection", + "abnormal mouth", + "primary circulatory organ", + "aplasia or hypoplasia of palatine uvula", + "abnormal joint of girdle morphology", + "anatomical cavity", + "palatine uvula", "Abnormal erythrocyte morphology", + "soft palate", + "Abnormal aortic valve morphology", + "midface", + "Abnormal soft palate morphology", + "Abnormal oral cavity morphology", + "Anemia", + "morphological feature", + "arterial blood vessel", + "anatomical structure development", + "Abnormality of skin morphology", + "abnormal cornea, curved", + "pigmentation", + "semen", + "abnormality of anatomical entity physiology", + "integumental system", + "non-functional anatomical entity", + "Abnormal vertebral morphology", + "integument", + "tracheobronchial tree", + "cerebral cortex", + "abnormality of kidney physiology", + "changed biological_process rate in independent continuant", + "abnormal asymmetry of face", + "abnormal integument", + "increased qualitatively biological_process in independent continuant", + "joint of girdle", + "Abnormal ileum morphology", + "eyeball of camera-type eye", + "abnormal upper urinary tract", + "abnormal skin of body", + "abnormal cardiac valve morphology", + "Localized skin lesion", + "Abnormal 5th finger morphology", + "Abnormal thumb morphology", + "aplasia or hypoplasia of ulna", + "increased biological_process in independent continuant", + "ulna hypoplasia", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal nerve", + "limb joint", + "Hyperpigmentation of the skin", + "increased biological_process in skin of body", + "increased pigmentation in independent continuant", + "manual digit bone", + "abnormal biological_process in independent continuant", + "non-functional kidney", + "decreased size of the anatomical entity", + "Abnormal cerebral cortex morphology", + "forebrain", + "increased qualitatively biological_process", + "abnormal cell morphology", + "anatomical collection", + "Macule", + "independent continuant", + "abnormal pigmentation", + "abnormality of cranial nerve physiology", + "paralysed cranial nerve", + "vein", + "multi cell part structure", + "cranial nerve", + "Frontal bossing", + "nerve", + "Abnormal cranial nerve physiology", + "Cranial nerve paralysis", + "segment of manus", + "prominent forehead", + "abnormal incomplete closing of the arch of centrum of vertebra", + "abnormal manus morphology", + "Aplasia/hypoplasia involving the skeleton", + "abnormal platelet morphology", + "abnormal anatomical entity morphology in the manus", + "Aplasia/hypoplasia involving bones of the extremities", + "circulatory system", + "Spina bifida", + "vascular system", + "abnormal anterior segment of eyeball morphology", + "aplasia or hypoplasia of skeleton", + "abnormal cardiac valve morphology in the heart", + "Abnormality of the hand", + "decreased pigmentation in skin of body", "Abnormal finger morphology", "Aplasia/Hypoplasia of fingers", - "abnormal behavior process", "Aplasia/hypoplasia involving bones of the hand", - "aplasia or hypoplasia of manual digit", - "Abnormality of head or neck", - "abnormally fused manual digit and anatomical entity", + "abnormal manus", + "skeleton of manus", + "male reproductive system", + "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", + "Abnormal internal genitalia", + "abnormally fused anatomical entity and digit", + "anatomical space", "abnormally fused anatomical entity and anatomical entity", - "Umbilical hernia", - "Clinodactyly of the 5th finger", + "abnormally decreased functionality of the myocardium", + "Abnormal peripheral nerve morphology by anatomical site", + "Syndactyly", + "appendage", "abnormally fused digit and digit", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "Deviation of the hand or of fingers of the hand", - "Cleft palate", - "increased length of the epicanthal fold", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "Abnormality of the curvature of the cornea", - "Abnormality of the mouth", - "Finger syndactyly", - "abnormal systemic artery morphology", - "abnormal anatomical entity mass density", - "increased height of the secondary palate", - "abnormal sensory perception", - "Decreased bone element mass density", - "abnormality of anatomical entity physiology", - "abnormal bone element mass density", - "abnormal ductus arteriosus morphology", - "Upslanted palpebral fissure", - "Abnormal bone ossification", - "abnormal ulna morphology", - "Decreased anatomical entity mass density", + "Clinodactyly of the 5th finger", + "abnormal developmental process involved in reproduction", + "abnormally fused digit and anatomical entity", + "Abnormality of bone mineral density", + "biogenic amine secreting cell", + "ossification", + "appendicular skeletal system", + "abnormal location of eyeball of camera-type eye", "deviation of manual digit 5", - "Abnormality of the respiratory system", - "Deviation of the 5th finger", - "aplasia or hypoplasia of ulna", - "Localized skin lesion", - "Abnormal 5th finger morphology", - "Abnormality of the skeletal system", - "Deviation of finger", - "Abnormality of the eye", - "Finger clinodactyly", + "deviation of manual digit", + "manual digit 5", + "Abnormality of the hypothalamus-pituitary axis", "deviation of anatomical entity", - "deviation of manual digit 5 towards the middle", - "curved anatomical entity", - "decreased length of long bone", - "abnormal biological_process in independent continuant", - "decreased size of the anatomical entity", - "Abnormal conjugate eye movement", - "Abnormal uvula morphology", - "anatomical entity hypoplasia", - "Abnormal vestibulo-ocular reflex", + "abnormal late embryo", + "Deviation of the hand or of fingers of the hand", + "digit 1 or 5", + "trunk", + "manual digit 5 plus metapodial segment", + "cardiac chamber", + "abnormal spatial pattern of anatomical entity", + "deviation of digit towards the middle", + "Short forearm", + "decreased height of the anatomical entity", + "Abnormality of the eye", + "decreased size of the ulna", + "increased height of the secondary palate", + "Tetralogy of Fallot", + "Forearm undergrowth", + "Aplasia/hypoplasia involving forearm bones", + "forelimb zeugopod bone hypoplasia", + "hypertrophic multicellular anatomical structure", + "dermal skeletal element", + "decreased length of anatomical entity in independent continuant", + "paired limb/fin skeleton", + "Abnormal nervous system physiology", + "Hypoplasia of the ulna", + "Upper limb undergrowth", + "aplasia or hypoplasia of telencephalon", "decreased size of the anatomical entity in the independent continuant", + "abnormal incomplete closing of the interatrial septum", + "Decreased multicellular organism mass", + "intestine", "Aplasia/Hypoplasia of the ulna", - "bicornuate anatomical entity", - "shape anatomical entity", - "anatomical entity hypoplasia in independent continuant" - ], - "has_phenotype_count": 106, - "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", - "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:0002754", - "HP:0002783", - "HP:0005939", - "HP:0001876", - "HP:0007606" - ], - "has_phenotype_label": [ - "Osteomyelitis", - "Recurrent lower respiratory tract infections", - "Multiple bilateral pneumothoraces", - "Pancytopenia", - "Multiple cutaneous malignancies" - ], - "has_phenotype_closure": [ - "HP:0008069", - "UPHENO:0002635", - "UPHENO:0086173", - "HP:0011893", - "UPHENO:0086172", - "UPHENO:0088166", - "HP:0011875", - "UPHENO:0076703", - "HP:0005561", - "HP:0010987", - "UPHENO:0086049", - "UPHENO:0085070", - "UPHENO:0085984", - "HP:0020047", - "HP:0011873", - "UPHENO:0087355", - "UPHENO:0011498", - "HP:0001876", - "UPHENO:0085371", - "HP:0025354", - "HP:0032251", - "UPHENO:0004459", - "HP:0001881", - "HP:0025461", + "articular system", + "decreased qualitatively pigmentation", + "decreased multicellular organism mass", + "innominate bone", + "Spinal dysraphism", + "articulation", + "increased size of the brain ventricle", + "zone of organ", + "abnormal voluntary movement behavior", + "tissue", + "skin of body", + "cerebral hemisphere gray matter", + "abnormal pelvic girdle bone/zone morphology", + "systemic arterial system", + "Abnormal cerebral morphology", + "Joint dislocation", + "abnormal external ear", + "girdle bone/zone", + "abnormal jaw skeleton morphology", + "Abnormality of the face", + "synovial joint of pelvic girdle", + "skeletal joint dislocation", + "abnormal synovial joint morphology", + "Ventriculomegaly", + "multicellular organism development", + "trunk bone", + "Abnormal jaw morphology", + "irregular bone", + "Meckel diverticulum", + "peripheral nervous system", + "abnormal hip joint morphology", + "Micrognathia", + "anatomical entity dislocation", + "abnormal embryonic tissue morphology", + "zone of bone organ", + "Aplasia/Hypoplasia of the radius", + "Abnormal pelvic girdle bone morphology", + "Abnormal localization of kidney", + "abnormal skeletal joint morphology", + "Abnormal hip bone morphology", + "pelvic girdle skeleton", + "pelvic girdle bone/zone", + "abnormal hindlimb stylopod morphology", + "Abnormality of femur morphology", + "abnormal femur morphology", + "stylopod", + "upper leg bone", + "abnormally localised anatomical entity", + "Abnormal heart morphology", + "abnormal anatomical entity morphology in the skeleton of pelvic complex", + "abnormal limb bone", + "anatomical structure morphogenesis", + "dentary", + "femur endochondral element", + "Abnormality of the inner ear", + "abnormal vertebral column morphology", + "autopodial skeleton", + "epithelium", + "presumptive structure", + "abnormal neural tube morphology", + "abnormal response to stimulus", + "embryo development ending in birth or egg hatching", + "epithelial tube morphogenesis", + "morphogenesis of an epithelium", + "nervous system development", + "abnormally fused pedal digit and pedal digit", + "future central nervous system", + "Aplasia/Hypoplasia of the cerebrum", + "tube closure", + "neural tube", + "developing anatomical structure", + "brain ventricle/choroid plexus", + "proximo-distal subdivision of respiratory tract", + "embryonic structure", + "abnormal palpebral fissure", + "abnormal tube formation", + "Neural tube defect", + "anatomical structure formation involved in morphogenesis", + "brain gray matter", + "Abnormal tracheobronchial morphology", + "embryo development", + "Abnormal neural tube morphology", + "manual digit 1 plus metapodial segment", + "abnormal cerebral hemisphere morphology", + "Aplasia/Hypoplasia involving bones of the skull", + "tissue morphogenesis", + "abnormal multicellular organismal reproductive process", + "system development", + "appendicular skeleton", + "spinal cord", + "Abnormality of the cardiovascular system", + "dorsal region element", + "abnormal opening of the anatomical entity", + "abnormal skin of head morphology", + "abnormal neural tube closure", + "ganglion of peripheral nervous system", + "abnormal autonomic nervous system morphology", + "conceptus", + "abnormal vertebra morphology", + "embryonic epithelial tube formation", + "Abnormal toe phalanx morphology", + "arch of centrum of vertebra", + "Vertebral arch anomaly", + "dorsum", + "abnormal bony vertebral centrum morphology", + "brain ventricle", + "future nervous system", + "abnormal olfactory system morphology", + "bony vertebral centrum", + "enteric ganglion", + "Unusual infection", + "abnormal enteric ganglion morphology", + "neurocranium bone", + "Abnormal autonomic nervous system morphology", + "parasympathetic nervous system", + "autonomic nervous system", + "abnormal face morphology", + "axial skeletal system", + "abnormal intestine morphology", + "autonomic ganglion", + "Abnormal hand morphology", + "abnormal ganglion of peripheral nervous system morphology", + "abnormal skin of body morphology", + "Abnormal peripheral nervous system ganglion morphology", + "parasympathetic ganglion", + "enteric nervous system", + "abnormal ocular surface region morphology", + "abnormal ganglion morphology", + "Abnormality of enteric ganglion morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "embryonic tissue", + "ileum", + "abnormal frontal cortex morphology", + "tetrapod frontal bone", + "abnormal respiratory system morphology", + "abnormally protruding anatomical entity", + "abnormal vascular system morphology", + "cortex of cerebral lobe", + "abnormal vault of skull", + "abnormal roof of mouth morphology", + "prominent anatomical entity", + "membrane bone", + "cranial bone", + "Puberty and gonadal disorders", + "central nervous system cell part cluster", + "primary subdivision of skull", + "primary subdivision of cranial skeletal system", + "female reproductive system", + "dermal skeleton" + ], + "has_phenotype_count": 106, + "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", + "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:0002754", + "HP:0002783", + "HP:0005939", + "HP:0001876", + "HP:0007606" + ], + "has_phenotype_label": [ + "Osteomyelitis", + "Recurrent lower respiratory tract infections", + "Multiple bilateral pneumothoraces", + "Pancytopenia", + "Multiple cutaneous malignancies" + ], + "has_phenotype_closure": [ + "HP:0001574", + "HP:0007606", + "HP:0011793", + "UPHENO:0002635", + "HP:0002664", + "UBERON:0004121", + "UBERON:0002097", + "UBERON:0002199", + "UBERON:0002416", + "CL:0000738", + "UBERON:0002371", + "CL:0001035", + "UBERON:0002193", + "CL:0002242", + "CL:0000225", + "CL:0000255", + "CL:0000219", + "UPHENO:0086005", + "UPHENO:0084928", + "CL:0000232", + "CL:0002092", + "UPHENO:0085068", + "UPHENO:0086045", + "HP:0001876", + "UPHENO:0085302", + "HP:0032251", + "UPHENO:0011498", + "HP:0025354", + "UPHENO:0076675", + "UPHENO:0006910", + "UPHENO:0086049", + "HP:0001872", "UPHENO:0063722", + "HP:0011842", "UPHENO:0087123", - "UPHENO:0076675", + "UPHENO:0085118", + "UPHENO:0086172", + "CL:0000763", + "CL:0000458", + "CL:0000151", + "HP:0011873", + "UPHENO:0084987", + "CL:0000233", + "UPHENO:0004459", + "UPHENO:0086173", + "UBERON:0000479", + "UPHENO:0085144", + "UPHENO:0085984", "UPHENO:0085195", - "UPHENO:0087339", - "UPHENO:0085189", - "UPHENO:0086005", + "HP:0011875", + "UPHENO:0088166", + "UPHENO:0076703", + "CL:0000457", + "UPHENO:0085371", "HP:0012145", - "UPHENO:0085344", - "HP:0001873", - "HP:0002107", - "HP:0005939", - "UPHENO:0006910", - "UPHENO:0085144", - "UPHENO:0081590", - "UPHENO:0020584", - "UPHENO:0080377", + "HP:0005561", + "UPHENO:0087355", + "HP:0011893", + "HP:0020047", "UPHENO:0077426", - "UPHENO:0075696", - "UPHENO:0084928", - "UPHENO:0082875", - "BFO:0000001", - "UPHENO:0085118", - "HP:0002715", + "NCBITaxon:6072", + "UPHENO:0083263", + "UBERON:0000468", + "HP:0002754", + "UPHENO:0002964", + "HP:0010978", + "HP:0000951", + "HP:0012252", + "GO:0006952", + "UBERON:0001062", + "UPHENO:0080377", + "UBERON:0000042", + "UPHENO:0074624", + "BFO:0000040", + "UBERON:0015212", + "NCBITaxon:33154", + "UBERON:0010000", + "UPHENO:0080693", + "UPHENO:0074687", + "UPHENO:0001003", + "UPHENO:0001005", + "CL:0000329", + "UPHENO:0081590", + "HP:0012647", + "UPHENO:0003811", + "UPHENO:0082682", + "UBERON:0000061", + "UPHENO:0074685", + "UPHENO:0080221", + "UBERON:0000481", "UPHENO:0081440", - "UPHENO:0085302", - "UPHENO:0001001", - "HP:0002086", - "HP:0000001", + "UBERON:0000025", + "HP:0002715", + "UBERON:0004765", + "UBERON:0034923", + "BFO:0000020", "UPHENO:0001002", - "HP:0000924", - "UPHENO:0059829", - "HP:0011842", - "UPHENO:0002332", - "HP:0033127", + "HP:0000118", + "UBERON:0002390", + "GO:0006954", + "UBERON:0000064", + "CL:0000988", + "UBERON:0000465", + "UBERON:0000060", + "GO:0050896", + "HP:0012649", "UPHENO:0049584", - "UPHENO:0049586", - "UPHENO:0076684", - "BFO:0000002", + "UPHENO:0049587", + "UPHENO:0002948", "UPHENO:0049588", - "UPHENO:0002536", - "HP:0002783", - "HP:0002664", - "BFO:0000020", - "UPHENO:0001005", - "HP:0012647", - "UPHENO:0019970", + "UPHENO:0086908", + "UPHENO:0001001", "UPHENO:0002263", + "BFO:0000002", + "HP:0033127", + "UPHENO:0002332", + "UBERON:0000467", + "UBERON:0011216", + "UBERON:0002100", + "UPHENO:0059829", + "UBERON:0002405", + "NCBITaxon:2759", + "UBERON:0002204", + "BFO:0000015", + "HP:0008069", + "UBERON:0001474", + "HP:0005939", + "CL:0000000", + "UPHENO:0054970", + "UBERON:0000915", + "PATO:0000001", + "HP:0002719", + "UPHENO:0085344", + "HP:0001881", + "UBERON:0000065", + "HP:0002205", + "BFO:0000001", + "UPHENO:0080662", + "UBERON:0004120", + "BFO:0000004", + "UBERON:0001005", + "GO:0008150", + "CL:0000764", "UPHENO:0074572", - "UPHENO:0085068", + "NCBITaxon:1", + "UPHENO:0082875", + "UPHENO:0002536", "HP:0011843", "HP:0002088", - "HP:0011793", - "UPHENO:0080662", - "UPHENO:0002948", - "HP:0007606", - "HP:0012649", - "HP:0000118", - "UPHENO:0001003", - "HP:0000951", - "UPHENO:0074685", - "UPHENO:0080221", - "UPHENO:0084987", - "UPHENO:0049587", - "UPHENO:0074624", - "HP:0010978", - "HP:0002754", - "UPHENO:0002964", - "HP:0012252", - "HP:0001574", - "UPHENO:0082723", + "UBERON:0015203", + "UBERON:0005906", + "UBERON:0001434", + "UBERON:0002048", + "UBERON:0005177", + "UBERON:0003103", + "UBERON:0000171", + "UPHENO:0004536", + "HP:0002086", + "HP:0002783", + "UBERON:0005181", + "UPHENO:0085189", + "HP:0025461", + "NCBITaxon:33208", + "UBERON:0000077", + "UBERON:0002075", + "HP:0032101", + "HP:0001873", + "UPHENO:0019970", + "UBERON:0013702", "HP:0001871", - "UPHENO:0086045", - "UPHENO:0082682", - "UPHENO:0086908", - "UPHENO:0083263", - "UPHENO:0074687", - "UPHENO:0080693", - "UPHENO:0003811", + "UPHENO:0049586", + "UPHENO:0075696", "HP:0002103", - "HP:0032101", + "UBERON:0000475", + "UPHENO:0020748", + "UBERON:0000062", + "UBERON:0001004", + "UBERON:0013701", + "CL:0000081", + "UBERON:0009569", + "UPHENO:0085070", + "UPHENO:0076692", + "UPHENO:0087339", "UPHENO:0087433", "HP:0011947", - "HP:0001872", - "UPHENO:0076692", + "OBI:0100026", + "UPHENO:0020584", + "UPHENO:0076684", + "UBERON:0001558", + "HP:0000001", + "UBERON:0004111", + "UBERON:0005178", + "UPHENO:0082723", "UPHENO:0015280", - "PATO:0000001", - "UPHENO:0054970", - "HP:0002719", - "HP:0002205", - "UPHENO:0004536", - "UPHENO:0020748" + "UBERON:0034925", + "UBERON:0004119", + "UBERON:0000170", + "UBERON:0011676", + "UBERON:0000072", + "UBERON:0013522", + "BFO:0000003", + "PR:000050567", + "GO:0006950", + "NCBITaxon:131567", + "HP:0010987", + "HP:0000924", + "UBERON:0000977", + "HP:0002107", + "UBERON:0009778" ], "has_phenotype_closure_label": [ + "Neoplasm by anatomical site", "Multiple cutaneous malignancies", - "Abnormality of the integument", + "Neoplasm of the skin", + "Abnormality of the skin", "Neoplasm", - "abnormally decreased number of anatomical entity", - "abnormal immune system morphology", - "Abnormality of thrombocytes", - "abnormal integument", - "abnormal cell morphology", - "abnormal bone marrow cell", + "integumental system", + "skeletal element", + "bone marrow", + "oxygen accumulating cell", + "hemolymphoid system", + "nucleate cell", + "hematopoietic cell", + "cell", + "abnormal hematopoietic system morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal hematopoietic cell morphology", + "secretory cell", + "Abnormal leukocyte count", + "abnormal cell", + "abnormal bone marrow morphology", + "abnormal platelet", + "abnormally decreased number of cell", + "bone element", + "abnormal myeloid cell morphology", + "serotonin secreting cell", + "abnormal number of anatomical enitites of type platelet", + "abnormally decreased number of platelet", + "Abnormal immune system morphology", + "bone cell", + "Abnormality of bone marrow cell morphology", + "Abnormal cellular immune system morphology", + "erythrocyte", + "bone marrow cell", + "platelet", + "abnormal bone marrow cell morphology", "abnormal number of anatomical enitites of type leukocyte", "Abnormality of blood and blood-forming tissues", - "Abnormal skeletal morphology", + "abnormal leukocyte morphology", "Pancytopenia", - "Abnormal cellular immune system morphology", - "abnormal skin of body", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal number of anatomical enitites of type myeloid cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal platelet", - "abnormal blood cell", - "Abnormal platelet morphology", - "abnormal skeletal system morphology", - "abnormal bone marrow morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal platelet count", - "abnormal bone marrow cell morphology", "Abnormal cellular phenotype", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Neoplasm of the skin", - "abnormal number of anatomical enitites of type platelet", - "Abnormal cell morphology", - "abnormally decreased number of platelet", - "Abnormal leukocyte count", - "abnormal number of anatomical enitites of type cell", + "leukocyte", "abnormal hematopoietic system", + "Abnormal platelet count", + "abnormal platelet morphology", + "material anatomical entity", + "biogenic amine secreting cell", + "Abnormal musculoskeletal physiology", + "motile cell", + "independent continuant", + "abnormally decreased number of anatomical entity", + "increased biological_process in independent continuant", + "changed biological_process rate in independent continuant", "entity", - "specifically dependent continuant", - "increased qualitatively inflammatory response in independent continuant", - "abnormal inflammatory response", - "Neoplasm by anatomical site", + "disconnected anatomical group", + "increased qualitatively biological_process in independent continuant", "Thrombocytopenia", - "quality", - "phenotype", - "Increased inflammatory response", - "phenotype by ontology source", - "Osteomyelitis", - "Multiple bilateral pneumothoraces", + "Abnormality of immune system physiology", + "viscus", + "abnormal inflammatory response", + "Abnormal inflammatory response", + "abnormal skeletal system morphology", "Abnormality of the musculoskeletal system", - "Abnormal lung morphology", - "Abnormal immune system morphology", + "Eukaryota", + "Abnormality of the integument", + "protein-containing material entity", "increased qualitatively biological_process", + "pleural sac", + "organ system subdivision", + "response to stress", + "ectoderm-derived structure", + "proximo-distal subdivision of respiratory tract", + "material entity", + "biological_process", + "abnormal integument", + "abnormal biological_process", + "increased qualitatively inflammatory response", + "non-connected functional system", + "subdivision of tube", "abnormality of immune system physiology", - "abnormal myeloid cell morphology", - "increased inflammatory response in bone element", - "Abnormal musculoskeletal physiology", - "abnormal anatomical entity", - "abnormal immune system", - "abnormality of anatomical entity physiology", - "abnormal number of anatomical enitites of type anatomical entity", - "increased qualitatively response to stimulus", - "increased qualitatively biological_process in independent continuant", - "Abnormality of immune system physiology", - "Abnormality of the skin", + "multicellular organism", + "Abnormal myeloid cell morphology", + "changed biological_process rate", + "Abnormal platelet morphology", + "abnormal anatomical entity morphology", + "lateral structure", + "abnormal blood cell morphology", "Phenotypic abnormality", - "Recurrent respiratory infections", - "abnormal cell", - "abnormally decreased number of cell", - "Recurrent infections", - "abnormal hematopoietic system morphology", + "abnormal number of anatomical enitites of type cell", "increased inflammatory response in independent continuant", + "trunk", "abnormality of musculoskeletal system physiology", - "Abnormality of the immune system", - "continuant", - "abnormal respiratory system morphology", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal biological_process", - "Abnormality of bone marrow cell morphology", "increased inflammatory response", - "abnormal phenotype by ontology source", - "Abnormal inflammatory response", - "abnormal response to stress", - "All", - "Respiratory tract infection", + "tissue", + "continuant", + "skin of body", + "skeletal system", + "abnormal anatomical entity", + "occurrent", + "increased biological_process in bone element", + "Abnormal leukocyte morphology", + "response to stimulus", + "Abnormal skeletal morphology", "abnormal response to stimulus", - "abnormally decreased number of myeloid cell", - "abnormal blood cell morphology", - "increased biological_process", + "abnormal skin of body", + "Abnormal pleura morphology", + "musculoskeletal system", + "phenotype", + "abnormal phenotype by ontology source", "abnormal skeletal system", - "abnormal leukocyte morphology", - "abnormal pleura morphology", - "increased biological_process in independent continuant", - "changed biological_process rate in independent continuant", - "Abnormal myeloid cell morphology", - "increased biological_process in bone element", + "increased biological_process", + "hematopoietic system", "Abnormality of the skeletal system", - "abnormal biological_process in independent continuant", - "increased qualitatively inflammatory response", - "Unusual infection", - "Pneumothorax", + "increased qualitatively response to stimulus", + "anatomical structure", + "anatomical conduit", + "increased inflammatory response in bone element", + "abnormally decreased number of myeloid cell", + "compound organ", + "anatomical entity", + "Osteomyelitis", + "anucleate cell", + "phenotype by ontology source", + "Increased inflammatory response", + "quality", + "myeloid cell", + "abnormal cell morphology", + "immune system", + "root", + "inflammatory response", + "specifically dependent continuant", + "integument", + "eukaryotic cell", + "increased qualitatively inflammatory response in independent continuant", + "erythroid lineage cell", + "multicellular anatomical structure", + "anatomical system", + "Abnormality of thrombocytes", + "organ", + "organism", + "Respiratory tract infection", + "All", "abnormal lung morphology", - "changed biological_process rate", - "abnormal anatomical entity morphology", + "Abnormal lung morphology", + "abnormal anatomical entity morphology in the independent continuant", + "thoracic segment organ", + "anatomical collection", + "trunk region element", + "endoderm-derived structure", + "pair of lungs", + "blood cell", + "respiration organ", + "thoracic cavity element", "abnormal respiratory system", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal number of anatomical enitites of type anatomical entity", + "serous sac", + "Recurrent infections", + "organ part", + "Recurrent respiratory infections", + "respiratory system", + "Multiple bilateral pneumothoraces", + "respiratory airway", + "defense response", + "Eumetazoa", + "abnormal immune system morphology", + "Pneumothorax", + "tube", + "abnormal biological_process in independent continuant", + "Unusual infection", + "Abnormality of the immune system", + "multi-tissue structure", + "Metazoa", + "abnormal blood cell", + "abnormal response to stress", + "subdivision of trunk", "Abnormal respiratory system morphology", - "Abnormal leukocyte morphology", + "abnormal immune system", + "thoracic segment of trunk", + "abnormal respiratory system morphology", + "lung", + "subdivision of organism along main body axis", + "main body axis", + "abnormally decreased number of hematopoietic cell", + "serous membrane", "Abnormality of the respiratory system", - "abnormal platelet morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", "Recurrent lower respiratory tract infections", - "Abnormal pleura morphology" + "organism subdivision", + "respiratory tract", + "cellular organisms", + "Opisthokonta", + "body proper", + "abnormality of anatomical entity physiology", + "abnormal pleura morphology", + "lower respiratory tract", + "anatomical wall", + "mesoderm-derived structure", + "process", + "pleura", + "abnormal number of anatomical enitites of type myeloid cell", + "mixed endoderm/mesoderm-derived structure", + "abnormal bone marrow cell", + "Abnormal cell morphology" ], "has_phenotype_count": 5, "highlight": null, @@ -2455,30 +3885,6 @@ "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": ["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": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, { "id": "MONDO:0001083", "category": "biolink:Disease", @@ -2529,7 +3935,7 @@ "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": ["NCIT:C123229"], + "xref": ["NCIT:C123229", "Orphanet:3337"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, @@ -2542,542 +3948,1160 @@ "uri": null, "iri": null, "namespace": "MONDO", - "has_phenotype": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "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", "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:0001824", + "HP:0001324", + "HP:0004910", + "HP:0001510", + "HP:0003774", + "HP:0002150", + "HP:0001944", + "HP:0002206", + "HP:0001943", + "HP:0012622", + "HP:0012606", + "HP:0004912", + "HP:0003537", + "HP:0003234", + "HP:0003081", + "HP:0002900", + "HP:0002659", + "HP:0002653", "HP:0002148", - "HP:0000114", - "HP:0002757", - "HP:0002748", - "HP:0000938", - "HP:0002909", - "HP:0031415", - "HP:0000093", + "HP:0032943", + "HP:0004918", + "HP:0003646", + "HP:0003149", + "HP:0003126", "HP:0003076", - "HP:0003165", - "HP:0004322", - "HP:0002653", - "HP:0012213", - "HP:0000083", - "HP:0002150" + "HP:0002909", + "HP:0002049" ], "has_phenotype_label": [ "Osteomalacia", "Renal phosphate wasting", + "Weight loss", + "Muscle weakness", + "Bicarbonate-wasting renal tubular acidosis", + "Growth delay", + "Stage 5 chronic kidney disease", + "Hypercalciuria", + "Dehydration", + "Pulmonary fibrosis", + "Hypoglycemia", + "Chronic kidney disease", + "Renal sodium wasting", + "Hypophosphatemic rickets", + "Hypouricemia", + "Decreased plasma carnitine", + "Increased urinary potassium", + "Hypokalemia", + "Increased susceptibility to fractures", + "Bone pain", "Hypophosphatemia", - "Proximal tubulopathy", - "Recurrent fractures", - "Rickets", - "Osteopenia", - "Generalized aminoaciduria", - "High serum calcitriol", - "Proteinuria", + "Abnormal urine pH", + "Hyperchloremic metabolic acidosis", + "Bicarbonaturia", + "Hyperuricosuria", + "Low-molecular-weight proteinuria", "Glycosuria", - "Elevated circulating parathyroid hormone level", - "Short stature", - "Bone pain", - "Decreased glomerular filtration rate", - "Renal insufficiency", - "Hypercalciuria" + "Generalized aminoaciduria", + "Proximal renal tubular acidosis" ], "has_phenotype_closure": [ - "UPHENO:0068134", - "UPHENO:0068102", - "UPHENO:0051678", - "HP:0011280", - "UPHENO:0046344", - "HP:0000083", - "HP:0025142", - "UPHENO:0049874", - "HP:0000002", - "HP:0001507", - "UPHENO:0020584", - "UPHENO:0080351", - "UPHENO:0075159", - "UPHENO:0081423", - "HP:0004364", - "UPHENO:0068533", - "UPHENO:0081424", - "UPHENO:0082534", - "UPHENO:0051648", - "UPHENO:0068384", - "UPHENO:0081550", - "UPHENO:0051680", - "UPHENO:0068068", - "HP:0012337", - "UPHENO:0051630", - "HP:0033331", - "HP:0003165", - "UPHENO:0051936", - "UPHENO:0076285", - "UPHENO:0051612", - "HP:0001948", - "UPHENO:0068472", - "UPHENO:0086128", - "UPHENO:0051741", - "UPHENO:0068477", - "HP:0003076", - "UPHENO:0080659", + "CHEBI:33608", + "UPHENO:0068144", + "UPHENO:0068169", + "CHEBI:36587", + "CHEBI:24651", + "UPHENO:0068091", + "UPHENO:0051670", + "CHEBI:33575", + "UPHENO:0068495", + "CHEBI:33709", + "UPHENO:0046286", "UPHENO:0080658", + "CHEBI:32988", + "UPHENO:0068565", + "UPHENO:0051801", + "CHEBI:15841", + "CHEBI:50047", + "UPHENO:0068024", + "HP:0012610", + "UPHENO:0084542", + "UPHENO:0051659", + "UPHENO:0051619", + "UPHENO:0051714", + "CHEBI:35604", + "CHEBI:25741", + "UPHENO:0068079", + "CHEBI:36358", + "UPHENO:0051608", + "UPHENO:0051688", + "HP:0001995", + "HP:0004918", + "HP:0032943", + "HP:0025142", + "HP:0011279", + "HP:0002659", + "CHEBI:37247", "UPHENO:0068058", - "HP:0002653", - "UPHENO:0051635", - "UPHENO:0051712", - "UPHENO:0051640", - "UPHENO:0077826", + "CHEBI:33674", + "UPHENO:0051645", + "CHEBI:33296", + "CHEBI:33504", + "CHEBI:60242", + "UPHENO:0051958", + "CHEBI:26217", "UPHENO:0068247", - "UPHENO:0081547", - "UPHENO:0068064", - "UPHENO:0080638", - "UPHENO:0078589", - "UPHENO:0050116", - "UPHENO:0051628", - "UPHENO:0078628", + "GO:0055067", + "CHEBI:36914", + "HP:0010929", + "HP:0003081", + "UPHENO:0051849", + "CHEBI:26216", + "UPHENO:0068350", + "UPHENO:0051898", + "UPHENO:0034199", + "HP:0011017", + "UPHENO:0078640", + "UPHENO:0084537", + "UPHENO:0084472", + "GO:0006575", + "GO:0044255", + "UPHENO:0034319", + "CHEBI:27369", + "HP:0025354", + "GO:0032787", + "GO:0009437", + "GO:0006082", + "GO:0005575", + "HP:0012103", + "UPHENO:0006889", + "UPHENO:0050484", + "CHEBI:17126", + "GO:0005623", + "UPHENO:0082544", + "UPHENO:0049723", + "UPHENO:0068040", + "GO:0005622", + "GO:0005737", + "GO:0043226", + "HP:0011843", + "HP:0003234", + "UPHENO:0084541", + "HP:0010967", + "CHEBI:22860", + "CHEBI:35284", + "HP:0031980", + "HP:0003646", + "GO:0099568", + "GO:0006577", + "CHEBI:35352", + "UPHENO:0068442", + "GO:1901360", + "GO:1901564", + "GO:0006139", + "HP:0004359", + "GO:0046483", + "GO:0034641", + "HP:0004352", + "HP:0430071", + "CHEBI:33671", + "GO:0043231", + "CHEBI:33672", + "CHEBI:37622", + "CHEBI:24532", + "GO:0043436", + "CHEBI:33659", + "CHEBI:25699", + "HP:0004369", + "UPHENO:0068054", + "UPHENO:0051777", + "UPHENO:0078616", + "CHEBI:5686", + "CHEBI:33655", + "CHEBI:33636", + "CHEBI:33832", + "UPHENO:0077826", + "HP:0003537", + "HP:0004364", + "CHEBI:51143", + "CHEBI:25213", + "UPHENO:0049873", + "UPHENO:0068251", + "HP:0033354", "HP:0002157", - "HP:0100530", - "UPHENO:0076287", - "UPHENO:0068047", - "HP:0000818", - "HP:0000117", - "UPHENO:0051709", - "UPHENO:0051804", - "UPHENO:0051937", - "HP:0002749", + "CHEBI:25810", + "CHEBI:27171", + "CHEBI:38101", + "CHEBI:33833", + "GO:0071704", + "HP:0012072", + "GO:0006807", + "GO:0044237", + "UPHENO:0049748", + "UPHENO:0051588", + "CHEBI:35875", + "HP:0011042", + "CHEBI:25367", + "GO:0072521", + "UPHENO:0050116", + "UPHENO:0068538", + "HP:0002049", + "UPHENO:0068296", + "UPHENO:0066739", + "CHEBI:35406", "UPHENO:0034253", - "UPHENO:0051960", - "UPHENO:0068144", - "UPHENO:0068174", - "HP:0012591", - "HP:0001939", - "UPHENO:0086132", - "HP:0010876", - "HP:0003077", - "HP:0003110", - "BFO:0000002", - "UPHENO:0002832", - "HP:0033127", - "HP:0012599", - "HP:0002150", - "HP:0011842", - "UPHENO:0002332", - "HP:0000114", - "UPHENO:0068104", - "UPHENO:0002642", - "UPHENO:0001001", "UPHENO:0034351", - "UPHENO:0084654", - "HP:0000079", - "HP:0004322", - "UPHENO:0052038", - "UPHENO:0068054", - "UPHENO:0051186", - "UPHENO:0082875", - "HP:0003111", - "UPHENO:0080643", - "UPHENO:0002964", - "HP:0000119", - "UPHENO:0076289", - "HP:0003330", - "UPHENO:0068971", + "UPHENO:0051960", + "UPHENO:0034217", + "HP:0100529", "UPHENO:0050080", - "UPHENO:0082536", - "UPHENO:0051864", - "HP:0032245", - "UPHENO:0002411", - "UPHENO:0046362", - "UPHENO:0049723", - "HP:0000938", - "BFO:0000001", - "HP:0000924", - "UPHENO:0052116", - "UPHENO:0051668", - "HP:0000118", - "HP:0004360", + "UPHENO:0051937", + "CHEBI:24870", + "UPHENO:0049618", + "CHEBI:33259", + "HP:0012531", + "GO:0050801", + "HP:0010932", + "CHEBI:24867", + "HP:0000093", + "GO:0055062", + "UPHENO:0050121", + "HP:0002148", + "UPHENO:0046356", + "CHEBI:26708", + "CHEBI:35605", + "GO:0110165", + "UPHENO:0051887", + "UPHENO:0051866", + "CHEBI:22314", + "UPHENO:0051186", + "CHEBI:36963", + "GO:0009987", + "CHEBI:33285", + "UBERON:0000179", + "UBERON:0002193", + "HP:0004354", + "UBERON:0004120", + "UPHENO:0002411", + "CHEBI:33256", + "UBERON:0000025", + "UBERON:0001231", + "UBERON:0005173", + "UBERON:0007684", + "UBERON:0004819", + "HP:0003011", + "HP:0001324", + "UPHENO:0068134", + "UBERON:0011143", + "UPHENO:0002816", + "HP:0001824", + "UPHENO:0054299", + "CHEBI:17234", + "HP:0001942", + "UPHENO:0076294", + "UPHENO:0068491", + "CHEBI:36360", + "CHEBI:33675", + "UPHENO:0002442", "UPHENO:0034391", - "UPHENO:0081546", + "UPHENO:0010763", + "UBERON:0000915", + "UPHENO:0010795", + "UPHENO:0082761", + "UPHENO:0082543", + "UBERON:0000483", + "HP:0002909", + "UPHENO:0002642", + "HP:0003110", + "CHEBI:36359", + "HP:0003111", + "CHEBI:33318", + "CHEBI:24431", + "UPHENO:0051766", + "GO:0006631", + "UPHENO:0082835", + "UPHENO:0067999", + "HP:0000124", + "CHEBI:16646", + "UPHENO:0046283", + "HP:0011277", + "CHEBI:33302", + "HP:0010996", + "UBERON:8450002", + "GO:0044281", + "UBERON:0001088", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0002964", + "UPHENO:0049874", + "BFO:0000003", + "PR:000050567", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:24835", + "UPHENO:0052116", "HP:0004348", "HP:0000001", - "UPHENO:0080352", - "UPHENO:0068442", - "HP:0000093", - "UPHENO:0076692", - "HP:0003117", - "PATO:0000001", - "UPHENO:0002442", - "UPHENO:0068049", - "UPHENO:0049587", - "UPHENO:0001002", - "UPHENO:0051763", - "UPHENO:0082539", - "UPHENO:0082538", - "HP:0032369", - "UPHENO:0075696", - "HP:0001871", - "UPHENO:0051686", - "UPHENO:0001005", - "HP:0100529", - "UPHENO:0076286", - "UPHENO:0004459", + "HP:0004360", + "CHEBI:24833", + "UBERON:0001008", + "CHEBI:33839", + "CHEBI:26079", "UPHENO:0082834", + "BFO:0000040", + "HP:0012603", "HP:0004349", - "UPHENO:0082541", - "HP:0100511", - "HP:0031415", - "UPHENO:0051900", - "UPHENO:0003116", - "UPHENO:0068538", - "UPHENO:0051847", - "HP:0012211", - "UPHENO:0049618", - "UPHENO:0081548", - "UPHENO:0076703", - "HP:0430071", - "BFO:0000020", - "UPHENO:0001003", - "UPHENO:0082540", - "UPHENO:0046286", - "UPHENO:0049628", - "UPHENO:0002536", - "UPHENO:0048707", - "HP:0011849", - "UPHENO:0051670", - "HP:0011277", + "HP:0003774", + "CHEBI:23906", + "HP:0002749", + "UPHENO:0002320", "UPHENO:0084653", - "UPHENO:0048763", - "HP:0001992", - "HP:0002148", - "UPHENO:0069254", + "UBERON:0009773", + "UPHENO:0086132", + "UPHENO:0051635", + "UBERON:0000383", + "UPHENO:0001005", + "UPHENO:0081550", + "GO:0044238", + "UPHENO:0001001", + "BFO:0000004", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "HP:0002086", + "HP:0003119", + "CHEBI:26401", + "UBERON:0000062", + "UPHENO:0084654", "UPHENO:0075902", - "UPHENO:0066739", - "UPHENO:0034217", - "HP:0000077", - "HP:0020129", - "UPHENO:0002803", - "HP:0010935", - "HP:0000124", - "UPHENO:0000541", - "UPHENO:0066943", - "HP:0011843", - "UPHENO:0082943", - "UPHENO:0068313", - "HP:0031980", - "HP:0002757", - "HP:0012531", - "UPHENO:0051739", - "HP:0002659", - "HP:0100508", + "UPHENO:0068036", + "CHEBI:36915", + "UPHENO:0050113", + "UPHENO:0051686", + "UPHENO:0050539", + "HP:0011849", + "UPHENO:0048707", + "CHEBI:33250", + "HP:0000117", + "UBERON:0002113", + "HP:0000079", + "HP:0001507", + "CHEBI:37577", + "GO:0006725", + "HP:0012591", + "CHEBI:33241", + "HP:0002653", + "UPHENO:0076703", + "UPHENO:0015280", + "UPHENO:0081548", "UPHENO:0081440", - "HP:0032943", - "HP:0002748", - "UPHENO:0000543", - "UPHENO:0068491", - "HP:0012213", - "UPHENO:0075195", - "HP:0033354", - "UPHENO:0068495", - "UPHENO:0024906", - "UPHENO:0079536", - "HP:0012072", - "UPHENO:0082835", - "UPHENO:0068040", - "HP:0040156", + "UPHENO:0086908", + "UBERON:0002204", + "UBERON:0005177", + "UPHENO:0051847", + "CHEBI:16670", + "HP:0004325", + "CHEBI:36916", + "UPHENO:0079822", + "CHEBI:33635", + "UBERON:0000061", + "GO:0006629", + "GO:0006144", + "HP:0012606", + "UBERON:0001015", + "UBERON:0006314", + "UPHENO:0051736", + "UPHENO:0050791", + "HP:0000118", + "UPHENO:0078646", + "UPHENO:0034248", + "UBERON:0000178", + "UPHENO:0051763", + "GO:0008150", + "UBERON:0005090", + "UBERON:0000468", + "UBERON:0002417", + "UPHENO:0078592", + "GO:0008152", + "HP:0002900", + "UPHENO:0080556", + "UPHENO:0076289", + "CHEBI:23367", + "UPHENO:0051678", + "CHEBI:33582", + "UBERON:0000465", + "UPHENO:0082538", + "UPHENO:0082539", + "UBERON:0000489", + "UPHENO:0050433", + "BFO:0000001", + "HP:0001871", + "HP:0003330", + "UBERON:0005178", + "UBERON:0011216", + "GO:0019752", + "UPHENO:0034276", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0002100", + "UBERON:0001434", + "CHEBI:33917", + "UPHENO:0054261", + "UPHENO:0001003", + "BFO:0000015", + "CHEBI:33273", + "UBERON:0000467", + "UBERON:0004765", + "HP:0012599", + "UPHENO:0078554", + "UPHENO:0002332", + "GO:0009112", + "UPHENO:0075696", + "HP:0011842", + "HP:0002150", + "UBERON:0001630", + "HP:0033127", + "UBERON:0004211", + "CHEBI:25696", + "UBERON:0001062", + "UPHENO:0001002", "UPHENO:0046284", + "GO:0055086", + "HP:0001947", + "UBERON:0003103", "UPHENO:0068110", + "UPHENO:0076692", + "UPHENO:0002536", + "HP:0003149", + "CHEBI:33238", + "UPHENO:0049628", + "GO:0040007", + "CHEBI:26082", + "HP:0001939", + "GO:0005739", + "HP:0010966", + "CHEBI:35381", + "UPHENO:0077821", + "CHEBI:36357", + "BFO:0000002", + "GO:0043227", + "UBERON:0004111", + "HP:0004910", + "HP:0003287", + "HP:0001944", + "HP:0020129", "UPHENO:0046348", "UPHENO:0066927", - "UPHENO:0081544", - "UPHENO:0068089", - "UPHENO:0051930", + "HP:0006530", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", + "HP:0001992", + "UPHENO:0051709", + "UBERON:0010000", + "UBERON:0002390", + "UPHENO:0066943", + "UPHENO:0000541", + "UBERON:0000479", + "HP:0012337", + "UBERON:0000064", + "UBERON:0011676", + "CHEBI:26469", + "UBERON:0000072", + "UBERON:0009569", + "CHEBI:72695", + "UPHENO:0068064", + "CHEBI:64709", + "CHEBI:38166", + "UBERON:0003914", + "UPHENO:0079536", + "UPHENO:0034149", + "UPHENO:0024906", + "HP:0010930", + "CHEBI:33304", + "UBERON:0013702", "HP:0003355", - "UPHENO:0015280", - "UPHENO:0082542", - "UPHENO:0012541", - "HP:0002152", - "HP:0002909", - "UPHENO:0077821", - "HP:0032180", - "UPHENO:0068091", - "UPHENO:0068169", - "UPHENO:0078554", - "UPHENO:0079534", - "UPHENO:0068565", - "UPHENO:0076293", - "UPHENO:0049904", - "UPHENO:0046291", - "UPHENO:0068251", + "UPHENO:0019970", + "UPHENO:0078555", + "UBERON:0005172", + "GO:0055080", + "UBERON:0006555", + "HP:0012622", + "CHEBI:78616", + "HP:0000077", + "CHEBI:22313", + "UBERON:0004122", + "HP:0010935", + "CHEBI:25414", + "UPHENO:0081547", + "HP:0003126", + "HP:0002748", + "UPHENO:0002832", + "UPHENO:0002803", + "UBERON:0013701", + "UBERON:0001285", "HP:0001510", - "UPHENO:0049873", - "UPHENO:0051801", - "UPHENO:0046281", - "HP:0012212", - "UPHENO:0048711", - "HP:0003119" - ], - "has_phenotype_closure_label": [ - "Hypercalciuria", - "non-functional kidney", - "non-functional anatomical entity", - "Pain", - "Constitutional symptom", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "abnormal anatomical entity morphology in the independent continuant", - "Growth delay", - "Growth abnormality", - "Short stature", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "Abnormality of body height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of anatomical entity", - "increased level of chemical entity in blood serum", - "Alkalosis", - "Alkalemia", - "increased level of parathyroid hormone in independent continuant", - "Abnormality of acid-base homeostasis", - "Acute phase response", - "Azotemia", - "abnormal blood serum chemical entity level", - "abnormal acid bodily fluid level", - "Abnormal homeostasis", - "abnormal role blood serum level", - "increased level of parathyroid hormone in blood", - "Abnormal circulating protein concentration", - "abnormal blood nitrogen molecular entity level", - "abnormal blood parathyroid hormone level", - "Hyperproteinemia", - "increased blood serum role level", - "abnormal independent continuant parathyroid hormone level", - "increased bodily fluid base level", - "Elevated circulating parathyroid hormone level", - "increased level of glucose in urine", + "CL:0000000", + "UPHENO:0004536", + "HP:0011804", + "GO:0032501", + "UPHENO:0082794", + "HP:0000083", + "UPHENO:0046344", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0051930", + "CHEBI:33559", + "CHEBI:16541", + "GO:0050878", + "UPHENO:0051704", + "HP:0011280", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "CHEBI:22984", + "CHEBI:33595", + "UPHENO:0066781", + "UPHENO:0049587", + "UPHENO:0086128", + "UPHENO:0051712", + "GO:0042592", + "UBERON:0034925", + "UPHENO:0081546", + "UPHENO:0051640", + "GO:0065007", + "CHEBI:22563", + "UBERON:0002075", + "UPHENO:0086172", + "GO:0065008", + "CHEBI:35281", + "BFO:0000020", + "HP:0011032", + "UPHENO:0050619", + "UPHENO:0020584", + "GO:0043229", + "GO:0033500", + "UPHENO:0049709", + "UBERON:0002048", + "UBERON:0001005", + "HP:0004323", + "UBERON:0000171", + "UPHENO:0034438", + "CHEBI:51151", + "UBERON:0005181", + "PATO:0000001", + "HP:0002088", + "UBERON:0001004", + "HP:0012598", + "UBERON:0000475", + "UPHENO:0087433", + "UPHENO:0020748", + "UBERON:0001558", + "CHEBI:83821", + "HP:0002206", + "HP:0012252", + "UPHENO:0052008", + "UPHENO:0076299", + "CHEBI:27226", + "UBERON:0004119", + "UPHENO:0068089", + "UBERON:0000170", + "HP:0032180", + "UBERON:0000065", + "HP:0003076", + "UPHENO:0068102", + "UPHENO:0000543", + "UBERON:0013522", + "UPHENO:0076286", + "GO:0098771", + "UPHENO:0004459", + "CHEBI:17544", + "GO:0048878", + "UPHENO:0080555", + "HP:0011015", + "UPHENO:0051739", + "UPHENO:0079824", + "UPHENO:0051900", + "HP:0011014", + "CHEBI:50860", + "GO:0042593", + "CHEBI:25806", + "CHEBI:36962", + "UPHENO:0081544", + "CHEBI:15693", + "CHEBI:18133", + "UPHENO:0049904", + "HP:0001943", + "CHEBI:29103", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804" + ], + "has_phenotype_closure_label": [ + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "abnormal independent continuant amino acid level", + "Elevated urinary carboxylic acid", + "increased level of carboxylic acid in independent continuant", + "abnormal amino acid level", + "increased level of monosaccharide in urine", + "abnormal urine glucose level", + "increased level of glucose in independent continuant", + "amide", "abnormal independent continuant protein polypeptide chain level", - "abnormal vitamin metabolic process", - "abnormal independent continuant glucose level", - "increased level of lipid", - "abnormal independent continuant lipid level", - "abnormal hormone blood level", - "Glycosuria", - "abnormal lipid metabolic process", - "abnormal lipid level", - "Abnormal circulating metabolite concentration", - "increased level of carboxylic acid in urine", - "abnormal chemical homeostasis", - "abnormal independent continuant monoatomic ion level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal role urine level", - "Hypophosphatemia", - "abnormal independent continuant protein level", - "abnormal genitourinary system", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "Renal phosphate wasting", - "Abnormality of the urinary system physiology", "increased level of protein polypeptide chain in urine", - "increased blood role level", - "abnormal blood phosphate level", - "increased level of parathyroid hormone in blood serum", - "abnormal small molecule metabolic process", - "Abnormal bone ossification", - "abnormal multicellular organism chemical entity level", - "Osteomalacia", - "increased level of protein", - "abnormal anatomical entity morphology", - "decreased height of the multicellular organism", - "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "increased level of organic acid in independent continuant", - "abnormal primary metabolic process", - "abnormal urine phosphate level", - "Abnormal circulating calcium-phosphate regulating hormone concentration", + "organic amino compound", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "macromolecule", + "peptide", + "Abnormality of urinary uric acid level", + "abnormal urine uric acid level", + "Hyperuricosuria", + "increased level of uric acid in urine", + "organic anion", + "polyatomic anion", + "oxide", + "abnormal independent continuant hydrogencarbonate level", + "abnormal hydrogencarbonate level", + "increased level of hydrogencarbonate in independent continuant", + "increased level of hydrogencarbonate in urine", + "Abnormality of urine bicarbonate level", + "anion", + "oxoanion", + "Abnormal urine pH", + "Pain", + "Constitutional symptom", + "carbon oxoanion", + "abnormality of musculoskeletal system physiology", + "s-block molecular entity", + "abnormal blood potassium atom level", + "monoatomic cation", + "Abnormal blood monovalent inorganic cation concentration", + "potassium molecular entity", + "abnormal monoatomic cation homeostasis", + "potassium(1+)", + "alkali metal molecular entity", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "inorganic ion", + "monoatomic cation homeostasis", + "monoatomic monocation", + "monovalent inorganic cation", + "abnormal blood potassium(1+) level", + "decreased level of potassium atom in blood", + "Abnormal blood cation concentration", + "potassium atom", + "abnormal potassium atom level", + "abnormal independent continuant potassium atom level", + "abnormal urine potassium atom level", + "cell", + "Abnormal circulating fatty-acid anion concentration", + "abnormal fatty acid metabolic process", + "Abnormal circulating carboxylic acid concentration", + "intracellular membrane-bounded organelle", + "carnitine metabolic process", + "abnormal amino acid derivative level", + "organelle", + "Abnormal circulating fatty-acid concentration", + "zwitterion", + "lipid metabolic process", + "cellular modified amino acid metabolic process", + "organic acid metabolic process", + "cellular lipid metabolic process", + "amino acid derivative", "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "abnormal hematopoietic system", - "increased level of protein in independent continuant", + "quaternary nitrogen compound", + "Hyperchloremic metabolic acidosis", + "onium betaine", + "intracellular organelle", + "membrane-bounded organelle", + "Generalized aminoaciduria", + "carboxamide", + "oxoacid metabolic process", + "amino-acid betaine metabolic process", + "hydrogencarbonate", + "fatty acid metabolic process", + "abnormal carboxylic acid metabolic process", + "Abnormality of the mitochondrion", + "abnormal cellular_component", + "abnormal carnitine metabolic process", + "abnormal independent continuant potassium(1+) level", + "organonitrogen compound", "increased level of nitrogen molecular entity in blood", - "abnormal amino acid level", + "Hypouricemia", + "abnormal blood carnitine level", + "abnormal independent continuant uric acid level", + "abnormal blood uric acid level", + "Abnormal circulating nitrogen compound concentration", + "Hypokalemia", + "mitochondrion", + "Decreased circulating purine concentration", + "cyclic compound", + "organic molecule", + "amino acid", + "purine nucleobase metabolic process", "Abnormal urine protein level", - "abnormal homeostatic process", - "abnormal bone element mass density", - "abnormal blood protein polypeptide chain level", - "abnormal urine chemical entity level", - "Increased susceptibility to fractures", - "continuant", - "quality", - "Abnormal circulating hormone concentration", - "Reduced bone mineral density", - "abnormal independent continuant calcium atom level", - "Abnormal urine phosphate concentration", - "abnormal skeletal system", - "anatomical entity dysfunction in independent continuant", - "increased level of chemical entity", - "abnormal protein level", - "increased level of chemical entity in blood plasma", + "Abnormal circulating purine concentration", + "heterobicyclic compound", + "organic heterocyclic compound", + "nucleobase-containing compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "obsolete heterocycle metabolic process", + "small molecule metabolic process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular metabolic process", + "abnormal primary metabolic process", + "Abnormal circulating organic compound concentration", + "organonitrogen heterocyclic compound", + "organic heteropolycyclic compound", + "increased level of organic molecular entity in independent continuant", + "heteroarene", + "cation", + "decreased level of purines", + "abnormal blood nitrogen molecular entity level", + "elemental potassium", + "Abnormal circulating carnitine concentration", + "abnormal cellular process", "increased level of nitrogen molecular entity in independent continuant", - "abnormal role bodily fluid level", - "decreased level of phosphate in blood", - "phenotype", + "molecule", + "nucleobase metabolic process", + "decreased level of potassium atom in independent continuant", + "purine-containing compound metabolic process", + "increased level of chemical entity in blood", + "decreased level of uric acid in blood", + "imidazopyrimidine", + "polycyclic compound", + "nitrogen molecular entity", + "aromatic compound", + "increased level of organic acid in urine", + "amino-acid betaine", + "cellular process", + "Hypophosphatemic rickets", + "Abnormality of mitochondrial metabolism", + "decreased level of chemical entity in independent continuant", + "decreased level of chemical entity in blood", + "Azotemia", + "decreased level of uric acid in independent continuant", + "abnormal blood monoatomic ion level", + "organic cyclic compound metabolic process", + "ion", + "primary amide", + "elemental molecular entity", + "inorganic ion homeostasis", + "Abnormal circulating monocarboxylic acid concentration", + "Hypophosphatemia", + "monoatomic ion", + "phosphate ion homeostasis", + "Abnormal blood ion concentration", + "sodium atom", + "abnormal independent continuant sodium atom level", + "decreased level of carnitine in blood", + "Renal sodium wasting", + "abnormal independent continuant nitrogen molecular entity level", + "Abnormal urine sodium concentration", + "Abnormal urine potassium concentration", + "alkali metal atom", + "organooxygen compound", + "renal tubule", + "inorganic molecular entity", + "abnormally decreased functionality of the anatomical entity", + "carbohydrates and carbohydrate derivatives", + "increased independent continuant acid level", + "chemical entity", + "epithelium", + "abnormal anatomical entity mass density", + "Abnormality of urine calcium concentration", + "increased independent continuant role level", + "Renal tubular dysfunction", "increased independent continuant base level", + "increased level of uric acid in independent continuant", + "Increased urinary potassium", + "dipolar compound", + "muscle organ", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "cellular_component", + "bicyclic compound", + "decreased muscle organ strength", + "decreased role blood level", + "musculature", + "polypeptide", + "organic ion", "Abnormality of bone mineral density", - "Abnormality of the urinary system", - "increased level of protein in blood", - "Phenotypic abnormality", - "increased level of calcium atom in independent continuant", + "anatomical structure", + "anatomical conduit", + "increased level of chemical entity in independent continuant", + "carbohydrate homeostasis", + "abdominal segment of trunk", + "musculature of body", + "abnormal calcium atom level", + "decreased anatomical entity strength", "Bone pain", - "Abnormality of urine homeostasis", - "abnormal phosphate level", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "abnormality of renal system physiology", - "increased level of monosaccharide in urine", - "Abnormal skeletal morphology", - "abnormal hormone independent continuant level", - "increased level of lipid in independent continuant", - "abnormal phenotype by ontology source", - "abnormally decreased functionality of the nephron tubule", - "abnormality of anatomical entity physiology", - "decreased size of the multicellular organism", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "Abnormality of urine calcium concentration", - "abnormal anatomical entity mass density", - "Hyperlipidemia", - "abnormal vitamin D level", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal renal system", "Abnormality of the upper urinary tract", - "decreased level of chemical entity in blood", + "decreased anatomical entity mass", + "Proximal renal tubular acidosis", + "abdomen", + "heteropolycyclic compound", + "growth", "phenotype by ontology source", - "decreased level of chemical entity", - "Abnormality of blood and blood-forming tissues", - "Abnormal blood phosphate concentration", - "Abnormal glomerular filtration rate", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "decreased level of chemical entity in independent continuant", - "increased level of calcium atom in urine", - "abnormality of kidney physiology", - "abnormal kidney", - "Proximal tubulopathy", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "entity", - "abnormal blood lipid level", - "Abnormal renal physiology", - "abnormally decreased functionality of the anatomical entity", + "abnormal monoatomic ion homeostasis", + "decreased multicellular organism mass", + "hydrogen molecular entity", + "nephron tubule", + "Abnormality of body weight", + "Growth abnormality", + "nephron epithelium", + "increased level of potassium atom in independent continuant", + "Abnormality of the urinary system physiology", + "Abnormality of the respiratory system", + "phosphorus molecular entity", + "abnormal independent continuant monoatomic ion level", + "excretory system", "increased level of amino acid in independent continuant", - "abnormal phosphate ion homeostasis", - "increased level of vitamin D", - "Proteinuria", + "thoracic segment of trunk", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal independent continuant calcium atom level", + "abnormal chemical entity level", + "polyatomic entity", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "calcium atom", + "uriniferous tubule", + "cytoplasm", + "carnitine", + "musculoskeletal system", "abnormal upper urinary tract", - "increased blood serum base level", - "Abnormality of the kidney", - "Renal tubular dysfunction", - "Abnormality of the genitourinary system", - "abnormal independent continuant amino acid level", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal musculoskeletal physiology", - "abnormality of musculoskeletal system physiology", - "All", - "Recurrent fractures", - "Rickets", + "main group molecular entity", + "abnormality of kidney physiology", + "increased level of calcium atom in urine", "Renal insufficiency", - "High serum calcitriol", + "polyatomic ion", + "cytoplasmic region", + "Dehydration", "abnormal role blood level", - "abnormal monoatomic ion homeostasis", + "aldohexose", + "cellular anatomical entity", + "Renal phosphate wasting", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "obsolete monovalent inorganic cation homeostasis", + "pnictogen molecular entity", + "homeostatic process", + "Increased susceptibility to fractures", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "organochalcogen compound", + "anatomical collection", + "All", + "abnormal lung morphology", + "material entity", + "upper urinary tract", + "Abnormality of urine homeostasis", + "organic acid", + "ammonium betaine", + "Abnormal circulating metabolite concentration", + "ossification", + "decreased role independent continuant level", + "increased level of calcium atom in independent continuant", + "Abnormal circulating lipid concentration", + "Phenotypic abnormality", + "Aciduria", + "Abnormality of the urinary system", + "abnormal anatomical entity", + "nephron", + "protein polypeptide chain", + "Abnormal circulating nucleobase concentration", + "continuant", + "tissue", "Abnormality of metabolism/homeostasis", - "Osteopenia", - "Abnormality of vitamin D metabolism", - "Aminoaciduria", - "increased level of lipid in blood", - "Abnormal circulating organic compound concentration", - "abnormal vitamin D metabolic process", - "increased independent continuant hormone level", - "abnormal urine amino acid level", - "specifically dependent continuant", + "anatomical entity fibrosis", + "entity", + "Decreased bone element mass density", + "anatomical entity", + "decreased level of phosphate in independent continuant", + "Abnormal skeletal morphology", + "alkaline earth metal atom", + "heterocyclic compound", + "skeletal system", + "abnormal biological_process", + "abnormal role bodily fluid level", + "abnormal independent continuant organic anion level", + "Decreased multicellular organism mass", + "nucleobase-containing small molecule metabolic process", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "abnormal amino-acid betaine level", + "Abnormality of the genitourinary system", + "Reduced bone mineral density", + "alkali metal cation", + "abnormal multicellular organism chemical entity level", + "phosphate", + "abnormal small molecule metabolic process", + "abnormal renal system", + "abnormality of anatomical entity mass", + "Decreased body weight", + "genitourinary system", + "atom", + "abnormal bone element mass density", + "Rickets", + "hemolymphoid system", + "obsolete cellular aromatic compound metabolic process", + "abnormal blood phosphate level", + "multicellular organismal process", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "multicellular anatomical structure", + "inorganic cation", + "Abnormal cellular physiology", + "organic substance metabolic process", + "increased level of chemical entity", + "p-block molecular entity", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", "abnormal metabolite independent continuant level", - "increased level of carboxylic acid in independent continuant", - "increased level of calcitriol in independent continuant", - "increased independent continuant role level", - "abnormal endocrine system", - "abnormal independent continuant carboxylic acid level", - "abnormal blood plasma chemical entity level", - "increased bodily fluid role level", + "abnormal urine hydrogencarbonate level", + "abnormality of anatomical entity physiology", + "Abnormal cellular phenotype", + "abnormally decreased functionality of the nephron tubule", + "obsolete cell", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "non-functional kidney", + "bone element", + "Bicarbonate-wasting renal tubular acidosis", + "organism substance", + "Glycosuria", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "Abnormal bone ossification", + "increased level of potassium atom in urine", + "blood", + "phenotype", + "oxopurine", + "renal system", + "process", + "metal cation", "abnormal role independent continuant level", - "increased level of organic molecular entity in independent continuant", + "abnormal growth", + "independent continuant", + "abnormality of muscle organ physiology", + "Growth delay", + "abnormal purine nucleobase metabolic process", + "purines", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "oxoacid derivative", + "trunk", + "abnormal urine phosphate level", + "bodily fluid", + "Abnormal glucose homeostasis", + "muscle structure", + "material anatomical entity", + "Chronic kidney disease", + "decreased level of carnitine in independent continuant", + "Hypoglycemia", + "occurrent", + "organ", + "Hyperchloremic acidosis", + "organic cyclic compound", + "Abnormal bone structure", + "organic heterobicyclic compound", + "abnormal independent continuant carbohydrate level", + "skeletal element", + "cavitated compound organ", + "kidney", + "Weight loss", + "chalcogen molecular entity", + "Abnormal renal physiology", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "carbon group molecular entity", + "Decreased anatomical entity mass density", + "main group element atom", + "metabolic process", + "increased level of purines in independent continuant", + "intracellular anatomical structure", + "heteroatomic molecular entity", + "organic oxo compound", + "abnormal metabolic process", + "excreta", + "abnormal acid bodily fluid level", + "organism subdivision", + "respiratory tract", + "excretory tube", + "abdomen element", + "Acidosis", + "lateral structure", + "trunk region element", + "tube", + "organic aromatic compound", + "Abnormality of acid-base homeostasis", + "Metabolic acidosis", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "Renal tubular acidosis", + "Abnormal pulmonary interstitial morphology", "abnormal urine calcium atom level", - "abnormal blood monoatomic ion level", - "Abnormal urine metabolite level", - "Decreased glomerular filtration rate", - "Abnormal urinary electrolyte concentration", - "increased level of chemical entity in blood", - "increased level of organic acid in urine", - "increased level of glucose in independent continuant", - "Abnormal urine carboxylic acid level", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "subdivision of organism along main body axis", + "glucose", + "aldose", + "main body axis", + "abnormal phenotype by ontology source", + "subdivision of trunk", + "Abnormal respiratory system morphology", + "carboxylic acid metabolic process", "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", + "abnormal cell", "increased level of chemical entity in urine", + "abnormal kidney", + "Proteinuria", + "abnormal skeletal system morphology", + "protein-containing material entity", + "increased level of glucose in urine", + "body proper", + "oxoacid", + "Osteomalacia", + "delayed biological_process", + "delayed growth", + "abnormal sodium atom level", + "thoracic segment organ", + "non-functional anatomical entity", + "abnormal independent continuant carnitine level", + "abnormal role urine level", + "Hypercalciuria", + "uric acid", + "metal atom", + "Decreased anatomical entity mass", + "s-block element atom", + "abnormal regulation of body fluid levels", + "abnormal nucleobase metabolic process", "abnormal independent continuant phosphate level", - "Elevated urinary carboxylic acid", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "abnormal calcium atom level", - "Generalized aminoaciduria", - "increased independent continuant acid level", - "Aciduria", - "increased level of calcitriol in blood", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "Abnormal metabolism", - "abnormal metabolic process", - "Abnormal circulating lipid concentration", - "Abnormality of vitamin metabolism", - "Abnormality of the endocrine system" + "Abnormality of the skeletal system", + "lung", + "Abnormality of fluid regulation", + "oxygen molecular entity", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "abnormality of multicellular organism mass", + "subdivision of tube", + "glucose homeostasis", + "monosaccharide", + "abnormal anatomical entity morphology in the independent continuant", + "endoderm-derived structure", + "regulation of biological quality", + "pair of lungs", + "biological_process", + "increased bodily fluid role level", + "carbohydrate", + "hematopoietic system", + "multicellular organism", + "thoracic cavity element", + "abnormal cellular metabolic process", + "regulation of body fluid levels", + "abnormal respiratory system", + "epithelial tube", + "respiratory system", + "respiratory airway", + "Bicarbonaturia", + "increased bodily fluid acid level", + "respiration organ", + "lung fibrosis", + "monocarboxylic acid metabolic process", + "viscus", + "abnormal respiratory system morphology", + "abnormal urine sodium atom level", + "lower respiratory tract", + "biological regulation", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "abnormal urine organic anion level", + "abnormal chemical homeostasis", + "Abnormal urine metabolite level", + "decreased level of amino-acid betaine", + "abnormal carbohydrate homeostasis", + "Abnormal urinary electrolyte concentration", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "abnormal mitochondrion", + "abnormal glucose homeostasis", + "organonitrogen compound metabolic process", + "Abnormal blood glucose concentration", + "abnormal monocarboxylic acid metabolic process", + "chemical homeostasis", + "organic molecular entity", + "Decreased plasma carnitine", + "abnormal blood glucose level", + "abnormal independent continuant glucose level", + "hexose", + "heteroorganic entity" ], - "has_phenotype_count": 17, + "has_phenotype_count": 29, "highlight": null, "score": null }, { - "id": "MONDO:0014275", + "id": "MONDO:0060779", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 3", + "name": "acquired Fanconi syndrome", + "full_name": null, + "deprecated": null, + "description": "Fanconi Syndrome caused by exposure to noxious agents.", + "xref": ["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": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "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.", @@ -3123,1152 +5147,1576 @@ "Low-molecular-weight proteinuria" ], "has_phenotype_closure": [ - "UPHENO:0051801", "UPHENO:0068565", + "UPHENO:0051801", + "UPHENO:0068247", + "CHEBI:16541", + "CHEBI:15841", + "HP:0000093", + "CHEBI:16670", + "UPHENO:0051930", + "CHEBI:36586", "UPHENO:0068169", - "HP:0032943", - "HP:0001992", - "UPHENO:0068144", - "UPHENO:0046286", - "UPHENO:0051670", - "HP:0040156", + "CHEBI:36587", + "CHEBI:24651", + "UPHENO:0068091", "HP:0031980", + "UPHENO:0051670", + "CHEBI:50047", + "CHEBI:33575", "HP:0012072", + "HP:0032943", "UPHENO:0068495", - "UPHENO:0012541", - "HP:0000002", + "CHEBI:33709", + "HP:0003355", + "UPHENO:0046286", + "UPHENO:0081424", + "UPHENO:0069254", "UPHENO:0068971", "UPHENO:0075159", - "UPHENO:0081424", - "HP:0020129", - "UPHENO:0002803", + "UBERON:0000489", "HP:0012211", - "UPHENO:0069254", + "UBERON:0009569", + "UBERON:0013701", + "UBERON:0011676", + "UBERON:0005173", + "UBERON:0000916", "UPHENO:0075902", - "UPHENO:0086128", - "HP:0010935", + "UBERON:0002113", + "UBERON:0011143", + "UPHENO:0075195", + "UPHENO:0086132", + "UPHENO:0052116", + "CHEBI:18133", + "CHEBI:17234", + "CHEBI:15693", + "UPHENO:0081544", + "CHEBI:35381", "HP:0000077", - "HP:0000083", - "HP:0003076", - "UPHENO:0080659", - "UPHENO:0080658", + "CHEBI:78616", + "CHEBI:33674", "UPHENO:0068058", - "UPHENO:0075195", - "HP:0033354", + "UBERON:0005055", + "CHEBI:32988", + "UPHENO:0002411", + "HP:0002981", + "CHEBI:35352", + "UBERON:0002193", + "CHEBI:33675", + "UPHENO:0076740", + "UPHENO:0082467", + "UPHENO:0079534", + "CHEBI:50860", + "CHEBI:33661", + "UPHENO:0001002", + "UPHENO:0068064", + "CHEBI:72695", + "GO:0008150", + "UPHENO:0077826", + "BFO:0000004", + "UPHENO:0051753", + "UPHENO:0068346", "UPHENO:0051635", + "UBERON:0001977", + "HP:0004364", + "UPHENO:0078550", + "HP:0430071", + "BFO:0000020", + "UPHENO:0068491", + "UPHENO:0012541", + "CHEBI:36360", "UPHENO:0051640", - "UPHENO:0079873", - "UPHENO:0076727", - "UPHENO:0081423", - "UPHENO:0082449", - "UPHENO:0041226", - "UPHENO:0020041", - "UPHENO:0075952", - "UPHENO:0068064", - "HP:0002157", - "HP:0012100", - "HP:0002748", - "UPHENO:0077821", - "HP:0011277", - "UPHENO:0086956", - "UPHENO:0051630", - "UPHENO:0076285", - 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"UPHENO:0051753", - "UPHENO:0068346", - "HP:0003126", - "HP:0001871", - "UPHENO:0075696", - "BFO:0000002", - "HP:0003110", - "UPHENO:0001005", - "UPHENO:0051686", - "UPHENO:0079536", - "BFO:0000020", - "HP:0430071", - "UPHENO:0001002", - "HP:0000940", - "UPHENO:0081546", - "HP:0004360", + "UBERON:0010363", + "HP:0001942", + "HP:0000118", + "UBERON:0000178", + "GO:0040007", + "UPHENO:0031193", "HP:0001941", - "UPHENO:0001003", - "HP:0000001", - "HP:0004348", - "UPHENO:0051900", - "UPHENO:0041573", - "UPHENO:0081550", "UPHENO:0051804", - "HP:0001939", - "UPHENO:0077858", - "UPHENO:0068247", - "UPHENO:0077826", - "UPHENO:0002332", - "HP:0012599", - "UPHENO:0041610", - "HP:0033127", - "HP:0011842", + "UPHENO:0082538", + "UBERON:0004769", + "UPHENO:0081548", + "UPHENO:0015280", + "UPHENO:0048707", + "HP:0011849", + "CHEBI:36359", + "HP:0003110", + "CHEBI:5686", + "BFO:0000002", + "UBERON:0001062", + "CHEBI:25693", + "UBERON:0000061", + "HP:0000001", + "BFO:0000015", + "HP:0001871", + "CHEBI:16737", + "UPHENO:0076289", + "UPHENO:0081547", + "BFO:0000040", + "UPHENO:0082834", + "HP:0004349", + "UBERON:0006314", "UPHENO:0046284", + "UBERON:0003103", "UPHENO:0068110", - "UPHENO:0086628", - "HP:0004322", - "UPHENO:0068054", + "HP:0001510", + "HP:0003109", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "UBERON:0002417", + "UPHENO:0082129", + "HP:0001939", + "UPHENO:0049874", + "UBERON:0003823", + "UBERON:0000465", + "CHEBI:33582", + "UBERON:0011216", + "UBERON:0005172", "UPHENO:0052038", - "UPHENO:0082875", - "UPHENO:0082542", - "UPHENO:0015280", - "UPHENO:0002642", + "UBERON:0001969", + "CHEBI:64709", + "UPHENO:0079536", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "CHEBI:24995", + "CHEBI:33670", "PATO:0000001", "UPHENO:0002442", - "UPHENO:0081544", + "UBERON:0000978", + "UBERON:0011249", + "UPHENO:0051739", + "UPHENO:0051900", + "HP:0040156", + "UBERON:0000463", + "CHEBI:26020", + "HP:0020129", "UPHENO:0046348", - "HP:0000079", - "UPHENO:0086132", + "UBERON:0005177", + "UPHENO:0051847", + "UPHENO:0041258", + "UPHENO:0084763", "UPHENO:0068352", - "HP:0040068", - "HP:0011314", - "HP:0003330", - "HP:0000093", - "UPHENO:0080352", - "UPHENO:0068442", - "UPHENO:0076692", - "UPHENO:0068040", - "UPHENO:0082835", + "UPHENO:0078554", + "UPHENO:0002332", "UPHENO:0068292", "UPHENO:0084654", - "UPHENO:0081548", - "UPHENO:0076703", - "UPHENO:0084653", - "UPHENO:0051930", - "HP:0003355", - "UPHENO:0002896", - "UPHENO:0031310", - "HP:0000119", - "UPHENO:0002964", - "UPHENO:0041591", - "UPHENO:0082834", - "HP:0004349", - "UPHENO:0048707", - "HP:0011849", + "HP:0010935", + "UBERON:0004122", + "UBERON:0002100", + "UPHENO:0082875", + "UBERON:0001474", + "CHEBI:26082", + "HP:0011277", + "HP:0012599", + "CHEBI:33241", + "UPHENO:0081423", + "UPHENO:0002642", + "CHEBI:33839", + "CHEBI:26079", + "CHEBI:24833", + "UBERON:0001008", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "UBERON:0001088", + "UPHENO:0084653", + "HP:0000083", + "GO:0032501", + "HP:0003330", + "UBERON:0000062", + "HP:0003126", + "UPHENO:0002803", + "UPHENO:0002832", + "HP:0002748", + "UBERON:0004708", + "UPHENO:0082835", + "UBERON:0002204", + "UPHENO:0068054", + "UPHENO:0020041", + "HP:0004348", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0068251", + "UBERON:0004288", + "UPHENO:0075696", + "HP:0011842", + "UPHENO:0041610", + "UBERON:0001434", + "UBERON:0002103", + "UBERON:0000075", "UPHENO:0041536", - "UPHENO:0078554", - "UPHENO:0076740", - "UPHENO:0082467", - "UPHENO:0002830", - "HP:0011844", - "UPHENO:0068472", - "UPHENO:0041098", - "HP:0002814", - "UPHENO:0080300", - "HP:0006487", - "HP:0001510", + "UBERON:0002529", + "UPHENO:0077858", + "UPHENO:0076285", + "UBERON:0015212", + "UBERON:0010538", + "UBERON:0006058", + "UPHENO:0068040", + "UBERON:0008784", "HP:0002979", - "UPHENO:0051739", + "UPHENO:0082543", + "UBERON:0002471", + "UPHENO:0075952", + "HP:0040068", + "RO:0002577", + "UBERON:0000475", + "UBERON:0034944", + "UPHENO:0080300", + "UPHENO:0002896", "UPHENO:0084767", + "UBERON:0000064", + "UPHENO:0068472", + "UBERON:0000154", + "UPHENO:0080352", + "UBERON:0000179", + "UBERON:0000026", + "HP:0033127", "UPHENO:0086635", - "HP:0002981", + "UPHENO:0051630", + "UPHENO:0068190", + "UBERON:0010712", + "CHEBI:35605", + "UPHENO:0041591", + "UBERON:0002091", + "UBERON:0013702", + "CHEBI:33304", + "HP:0002813", + "UPHENO:0031310", + "UPHENO:0020584", + "UBERON:0005913", + "UPHENO:0004459", + "UBERON:0002428", + "UBERON:0010709", + "HP:0002814", "UPHENO:0086780", - "UPHENO:0002832", - "UPHENO:0084763", - "UPHENO:0068538", - "HP:0040064", - "HP:0003109", - "HP:0012591", - "UPHENO:0082129" + "HP:0011314", + "HP:0003259", + "UBERON:0010758", + "UBERON:0004381", + "UBERON:0010740", + "UPHENO:0080658", + "UBERON:0002495", + "HP:0000079", + "UBERON:0002513", + "UPHENO:0086628", + "CHEBI:25806", + "UPHENO:0082449", + "UPHENO:0003070", + "UPHENO:0041226", + "CHEBI:33608", + "HP:0000940", + "GO:0042592", + "UBERON:0034925", + "UBERON:0011582", + "UBERON:0010912", + "HP:0004322", + "UBERON:0015061", + "CHEBI:33917", + "UBERON:0004375" ], "has_phenotype_closure_label": [ "abnormal independent continuant protein polypeptide chain level", "Abnormal urine protein level", - "Aciduria", - "increased level of amino acid in independent continuant", - "increased level of carboxylic acid in urine", - "increased level of organic acid in urine", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "macromolecule", + "peptide", + "Abnormal urine pH", "increased independent continuant base level", - "Organic aciduria", - "abnormal independent continuant carboxylic acid level", - "Aminoaciduria", "increased level of organic acid in independent continuant", - "Short stature", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", - "abnormal size of multicellular organism", + "hydroxides", + "increased level of organic acid in urine", + "increased level of amino acid in urine", + "carbon oxoacid", + "carbonyl compound", + "hydrogen molecular entity", + "organic amino compound", + "carboxylic acid", + "abnormal urine amino acid level", + "abnormal independent continuant amino acid level", + "increased level of amino acid in independent continuant", + "amino acid", + "increased level of carboxylic acid in independent continuant", "decreased size of the anatomical entity in the independent continuant", + "Short stature", + "decreased height of the multicellular organism", + "abnormal amino acid level", "abnormal size of anatomical entity", + "Abnormality of body height", + "abnormal kidney", + "main body axis", + "subdivision of organism along main body axis", + "trunk", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", "Abnormality of the kidney", + "Renal insufficiency", + "trunk region element", + "non-functional kidney", "non-functional anatomical entity", - "Proteinuria", - "abnormal upper urinary tract", - "abnormal kidney", - "abnormal independent continuant glucose level", - "abnormal role urine level", + "abdomen element", + "cavitated compound organ", + "kidney", + "Abnormal urine metabolite level", + "body proper", "increased level of glucose in urine", - "Abnormal urine carboxylic acid level", - "increased level of glucose in independent continuant", - "abnormal limb bone morphology", - "shape long bone", - "increased level of carboxylic acid in independent continuant", - "Abnormal diaphysis morphology", - "Abnormal renal physiology", - "curved anatomical entity", - "Abnormal circulating metabolite concentration", - "increased level of protein polypeptide chain in urine", - "increased blood role level", - "Growth abnormality", - "abnormal anatomical entity, curved", - "abnormal anatomical entity morphology in the independent continuant", - "increased blood serum role level", - "All", - "phenotype by ontology source", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic system", - "increased level of protein polypeptide chain in independent continuant", + "hexose", + "aldose", + "glucose", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", "abnormal urine glucose level", - "entity", - "abnormal role blood serum level", - "abnormal bone element mass density", - "abnormal amino acid level", + "carbohydrates and carbohydrate derivatives", + "monosaccharide", + "increased level of phosphate in independent continuant", + "abnormal skeletal system", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "abnormality of anatomical entity physiology", + "compound organ", + "phosphorus oxoacids and derivatives", + "organooxygen compound", + "upper urinary tract", + "Abnormality of urine homeostasis", + "shape anatomical entity", + "abnormality of kidney physiology", + "main group molecular entity", + "hindlimb", "increased level of nitrogen molecular entity in blood", - "abnormal limb bone", - "Abnormal bone ossification", - "abnormal phenotype by ontology source", - "Growth delay", - "increased independent continuant role level", - "abnormal biological_process", - "abnormal chemical entity level", - "Low-molecular-weight proteinuria", - "Abnormal urine pH", - "increased level of chemical entity in independent continuant", - "abnormal multicellular organism chemical entity level", + "abnormal blood chemical entity level", + "imidazolidines", + "increased level of chemical entity in blood serum", + "urine", + "increased level of creatinine in blood serum", + "Azotemia", + "anatomical system", + "abnormal independent continuant carbohydrate level", + "organic molecule", + "oxygen molecular entity", + "organic molecular entity", + "increased level of creatinine in independent continuant", + "primary amide", + "hematopoietic system", + "multicellular organism", + "haemolymphatic fluid", + "heteromonocyclic compound", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "Abnormal circulating creatinine concentration", + "increased level of chemical entity", + "organonitrogen heterocyclic compound", "abnormal shape of continuant", - "abnormal independent continuant creatinine level", + "abnormal blood nitrogen molecular entity level", + "heteroorganic entity", + "abnormal role blood serum level", + "phosphorus molecular entity", + "imidazolidinone", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "creatinine", + "s-block molecular entity", + "increased level of chemical entity in blood plasma", "Elevated circulating creatinine concentration", - "increased level of chemical entity", - "Abnormal circulating creatinine concentration", - "Abnormal urine metabolite level", - "increased level of creatinine in blood", - "increased bodily fluid acid level", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "Abnormality of acid-base homeostasis", - "Glycosuria", - "Abnormality of the calf", - "delayed growth", - "Azotemia", + "abnormal independent continuant creatinine level", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal blood serum chemical entity level", + "curved long bone", + "cyclic amide", + "paired limb/fin segment", + "pnictogen molecular entity", + "molecule", "abnormal independent continuant nitrogen molecular entity level", "abnormal anatomical entity", - "increased level of organic molecular entity in independent continuant", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "abnormal acid bodily fluid level", - "Abnormality of the urinary system physiology", - "Acidosis", - "increased level of nitrogen molecular entity in independent continuant", - "increased level of chemical entity in blood plasma", - "abnormal hindlimb morphology", - "abnormal genitourinary system", - "shape anatomical entity", - "Abnormality of urine homeostasis", - "increased level of creatinine in independent continuant", - "delayed biological_process", + "increased level of chemical entity in blood", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "Metabolic acidosis", + "phenotype by ontology source", + "growth", + "abnormal role independent continuant level", + "process", + "abnormal blood plasma chemical entity level", + "chemical entity", + "increased independent continuant acid level", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "decreased size of the anatomical entity", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "Abnormal circulating nitrogen compound concentration", + "carbon group molecular entity", + "abnormal independent continuant chemical entity level", + "increased blood serum role level", + "delayed growth", + "multi-limb segment region", + "bodily fluid", + "abnormal urine phosphate level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "independent continuant", + "abnormal growth", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "phosphorus oxoacid derivative", + "curvature anatomical entity in independent continuant", + "Abnormality of limbs", + "Abnormality of limb bone morphology", + "anatomical structure", + "polypeptide", + "abnormal limb", "Abnormality of bone mineral density", "Bowing of the long bones", + "abnormal acid bodily fluid level", + "organic oxo compound", + "excreta", + "abnormal blood creatinine level", + "organic heterocyclic compound", + "organism subdivision", + "organic acid", + "ossification", + "Abnormal circulating metabolite concentration", + "abnormal hindlimb zeugopod", + "protein polypeptide chain", "continuant", + "abnormal acid independent continuant level", + "organic heteromonocyclic compound", + "oxoacid", + "delayed biological_process", + "limb skeleton subdivision", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "organism substance", + "Acidosis", + "material entity", + "p-block molecular entity", + "Elevated urinary carboxylic acid", + "skeleton", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "subdivision of skeletal system", + "entity", + "Abnormal circulating organic compound concentration", "phenotype", - "Reduced bone mineral density", - "abnormal blood creatinine level", - "Abnormal circulating nitrogen compound concentration", - "abnormal independent continuant chemical entity level", - "Decreased anatomical entity mass density", - "abnormal metabolite independent continuant level", - "specifically dependent continuant", - "abnormal role bodily fluid level", - "abnormal blood plasma chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "Metabolic acidosis", - "increased independent continuant acid level", - "Renal insufficiency", - "Abnormality of metabolism/homeostasis", - "abnormal role blood level", - "abnormal blood nitrogen molecular entity level", - "Abnormal homeostasis", - "Bowing of the legs", - "increased level of creatinine in blood serum", - "abnormal anatomical entity morphology", - "abnormal diaphysis morphology", - "increased level of chemical entity in blood serum", - "abnormal urine chemical entity level", - "abnormality of anatomical entity physiology", - "decreased size of the multicellular organism", - "abnormal independent continuant carbohydrate level", "Abnormal bone structure", - "Abnormal urine phosphate concentration", + "organic cyclic compound", + "Abnormality of the genitourinary system", + "shape hindlimb zeugopod", + "blood serum", + "increased level of chemical entity in independent continuant", + "Abnormality of acid-base homeostasis", + "anatomical entity", + "Phenotypic abnormality", + "Hyperphosphaturia", + "increased bodily fluid acid level", + "increased level of creatinine in blood", + "appendage", + "organonitrogen compound", + "cyclic compound", + "abnormal bone element mass density", + "posterior region of body", + "multicellular anatomical structure", + "metabolic process", + "carboxamide", + "endochondral element", + "organ", + "occurrent", + "appendicular skeleton", + "Abnormality of metabolism/homeostasis", + "abnormal role blood level", + "increased blood role level", + "leg", + "Growth abnormality", + "polyatomic entity", + "abnormal role bodily fluid level", + "abnormal biological_process", + "blood plasma", + "long bone", + "monocyclic compound", + "material anatomical entity", + "increased independent continuant role level", + "lactam", + "renal system", + "abnormal renal system", + "abnormal urine chemical entity level", + "Aciduria", + "Abnormality of the urinary system", + "abnormal multicellular organism chemical entity level", + "phosphate", "quality", - "abnormal anatomical entity morphology in the pelvic complex", - "increased level of amino acid in urine", - "increased level of chemical entity in bodily fluid", - "increased level of chemical entity in urine", + "abnormality of renal system physiology", + "phosphoric acid derivative", + "Abnormal urine carboxylic acid level", + "abnormality of multicellular organism height", "abnormal phosphate level", - "abnormal long bone morphology", - "Elevated urinary carboxylic acid", - "abnormal leg", + "Abnormal long bone morphology", + "hindlimb zeugopod", + "Abnormality of the skeletal system", + "Bowing of the legs", "abnormal independent continuant phosphate level", + "All", + "anatomical collection", + "Growth delay", + "diaphysis", + "abnormal leg", + "abnormal genitourinary system", + "abnormal hindlimb morphology", + "excretory system", + "genitourinary system", + "oxoacid derivative", "increased level of phosphate in urine", - "Phenotypic abnormality", - "Hyperphosphaturia", - "abnormal limb", - "increased level of chemical entity in blood", - "Abnormal urinary electrolyte concentration", - "abnormality of renal system physiology", - "increased level of monosaccharide in urine", + "Abnormality of the urinary system physiology", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "zone of bone organ", + "multicellular organismal process", + "organ part", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "heterocyclic compound", + "skeletal system", + "specifically dependent continuant", + "abnormal anatomical entity morphology", "Abnormal skeletal morphology", - "abnormal urine phosphate level", - "Abnormality of the urinary system", + "Decreased anatomical entity mass density", "abnormal anatomical entity mass density", - "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "decreased height of the multicellular organism", + "Proteinuria", + "protein-containing material entity", "abnormal skeletal system morphology", "Abnormality of the musculoskeletal system", - "abnormal hindlimb zeugopod, curved", - "Rickets", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal skeletal system", - "increased level of phosphate in independent continuant", + "abnormal upper urinary tract", "curvature anatomical entity", - "curved hindlimb zeugopod", - "abnormal blood serum chemical entity level", - "curved long bone", - "non-functional kidney", + "musculoskeletal system", + "diazolidine", + "Reduced bone mineral density", + "Aminoaciduria", + "organ system subdivision", + "increased level of nitrogen molecular entity in independent continuant", "abnormal diaphysis morphology in the independent continuant", - "Abnormality of the upper urinary tract", - "shape anatomical entity in independent continuant", - "abnormal limb morphology", - "abnormal growth", - "abnormal hindlimb zeugopod morphology", - "abnormality of kidney physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal renal system", - "Abnormal long bone morphology", - "Abnormality of body height", - "Abnormal appendicular skeleton morphology", - "curvature anatomical entity in independent continuant", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "abnormal independent continuant amino acid level", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "abnormal hindlimb zeugopod", - "Abnormality of limb bone", + "abnormal size of multicellular organism", + "bone element", + "hemolymphoid system", + "Rickets", + "abnormal independent continuant glucose level", + "abnormal anatomical entity morphology in the pelvic complex", + "abnormal hindlimb zeugopod, curved", + "abnormal appendicular skeleton morphology", "curved anatomical entity in independent continuant", "Abnormality of the lower limb", - "abnormal appendicular skeleton morphology" + "Abnormality of the calf", + "curved hindlimb zeugopod", + "abnormal diaphysis morphology", + "curved anatomical entity", + "limb", + "pelvic appendage", + "zone of long bone", + "limb bone", + "Abnormal appendicular skeleton morphology", + "aldohexose", + "zone of organ", + "abnormal anatomical entity morphology in the independent continuant", + "increased level of protein polypeptide chain in urine", + "limb segment", + "abnormal anatomical entity, curved", + "nitrogen molecular entity", + "abnormal limb morphology", + "paired limb/fin", + "lower limb segment", + "skeletal element", + "zeugopod", + "abnormal long bone morphology", + "abnormal chemical entity level", + "appendicular skeletal system", + "subdivision of skeleton", + "endochondral bone", + "lateral structure", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", + "shape long bone", + "amide", + "Abnormality of limb bone", + "pelvic complex", + "abnormal limb bone morphology", + "shape anatomical entity in independent continuant", + "Organic aciduria", + "Abnormal diaphysis morphology", + "system", + "heteroatomic molecular entity", + "paired limb/fin skeleton", + "limb endochondral element", + "bone of free limb or fin", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "increased level of glucose in independent continuant", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "abnormal role urine level" ], "has_phenotype_count": 11, "highlight": null, "score": null }, { - "id": "MONDO:0024525", + "id": "MONDO:0013247", "category": "biolink:Disease", - "name": "Fanconi renotubular syndrome 1", + "name": "Fanconi renotubular syndrome 2", "full_name": null, "deprecated": null, - "description": null, - "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600", "Orphanet:3337"], + "description": "Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene.", + "xref": ["DOID:0080758", "GARD:15655", "OMIM:613388", "UMLS:C3150652"], "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" + "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:0001942", - "HP:0003648", - "HP:0001324", + "HP:0000117", "HP:0002148", - "HP:0000124", - "HP:0003109", - "HP:0002900", + "HP:0000114", + "HP:0002757", "HP:0002748", - "HP:0034359", + "HP:0000938", + "HP:0002909", + "HP:0031415", + "HP:0000093", "HP:0003076", - "HP:0003155", - "HP:0003355", + "HP:0003165", "HP:0004322", - "HP:0003126", - "HP:0000083", - "HP:0002749", - "HP:0000117", - "HP:0001824", - "HP:0001324", - "HP:0004910", - "HP:0001510", - "HP:0003774", - "HP:0002150", - "HP:0001944", - "HP:0002206", - "HP:0001943", - "HP:0012622", - "HP:0012606", - "HP:0004912", - "HP:0003537", - "HP:0003234", - "HP:0003081", - "HP:0002900", - "HP:0002659", "HP:0002653", - "HP:0002148", - "HP:0032943", - "HP:0004918", - "HP:0003646", - "HP:0003149", - "HP:0003126", - "HP:0003076", - "HP:0002909", - "HP:0002049" + "HP:0012213", + "HP:0000083", + "HP:0002150" ], "has_phenotype_label": [ "Osteomalacia", - "Metabolic acidosis", - "Lacticaciduria", - "Muscle weakness", + "Renal phosphate wasting", "Hypophosphatemia", - "Renal tubular dysfunction", - "Hyperphosphaturia", - "Hypokalemia", + "Proximal tubulopathy", + "Recurrent fractures", "Rickets", - "Impaired renal tubular reabsorption of phosphate", + "Osteopenia", + "Generalized aminoaciduria", + "High serum calcitriol", + "Proteinuria", "Glycosuria", - "Elevated circulating alkaline phosphatase concentration", - "Aminoaciduria", + "Elevated circulating parathyroid hormone level", "Short stature", - "Low-molecular-weight proteinuria", - "Renal insufficiency", - "Osteomalacia", - "Renal phosphate wasting", - "Weight loss", - "Muscle weakness", - "Bicarbonate-wasting renal tubular acidosis", - "Growth delay", - "Stage 5 chronic kidney disease", - "Hypercalciuria", - "Dehydration", - "Pulmonary fibrosis", - "Hypoglycemia", - "Chronic kidney disease", - "Renal sodium wasting", - "Hypophosphatemic rickets", - "Hypouricemia", - "Decreased plasma carnitine", - "Increased urinary potassium", - "Hypokalemia", - "Increased susceptibility to fractures", "Bone pain", - "Hypophosphatemia", - "Abnormal urine pH", - "Hyperchloremic metabolic acidosis", - "Bicarbonaturia", - "Hyperuricosuria", - "Low-molecular-weight proteinuria", - "Glycosuria", - "Generalized aminoaciduria", - "Proximal renal tubular acidosis" + "Decreased glomerular filtration rate", + "Renal insufficiency", + "Hypercalciuria" ], "has_phenotype_closure": [ - "UPHENO:0078555", - "HP:0012610", - "UPHENO:0068024", - "UPHENO:0068079", - "UPHENO:0084542", - "UPHENO:0051619", - "UPHENO:0051714", - "UPHENO:0051608", - "UPHENO:0051688", - "UPHENO:0051659", - "HP:0001995", - "HP:0004918", + "HP:0002150", + "UPHENO:0051678", + "HP:0011280", + "UPHENO:0068134", + "UPHENO:0046344", "HP:0025142", - "HP:0012531", - "HP:0011279", - "HP:0002659", - "HP:0003081", - "UPHENO:0051849", - "UPHENO:0068350", - "UPHENO:0078640", - "UPHENO:0050484", - "UPHENO:0086172", - "UPHENO:0084537", - "HP:0010996", - "UPHENO:0049723", - "HP:0004359", - "HP:0010966", - "HP:0012103", - "HP:0025354", - "HP:0003119", - "UPHENO:0006889", - "HP:0011843", - "HP:0003234", - "UPHENO:0082544", - "HP:0004354", - "UPHENO:0034319", - "UPHENO:0084472", + "HP:0001510", + "UPHENO:0081424", + "UPHENO:0069254", + "HP:0004322", + "UPHENO:0020584", + "UPHENO:0049874", + "UPHENO:0075159", + "UPHENO:0000541", + "UPHENO:0086132", + "UPHENO:0075195", + "GO:0040007", "UPHENO:0068442", + "UPHENO:0082943", + "HP:0004360", + "PR:000000001", + "UPHENO:0068174", + "HP:0001948", + "UPHENO:0051936", + "UPHENO:0068971", + "CHEBI:33695", + "CHEBI:33694", + "UPHENO:0082536", "UPHENO:0077826", - "HP:0003537", - "HP:0004364", - "HP:0004369", - "HP:0011038", - "UPHENO:0051280", - "UPHENO:0051898", - "HP:0011017", - "UPHENO:0034199", - "UPHENO:0051704", - "HP:0011280", - "HP:0002653", - "UPHENO:0076703", - "UPHENO:0049618", - "HP:0011042", - "HP:0032180", - "UPHENO:0068091", - "UPHENO:0051887", - "UPHENO:0034438", - "HP:0001943", - "UPHENO:0051958", - "UPHENO:0068352", - "UPHENO:0081777", - "UPHENO:0066927", - "UPHENO:0081544", - "HP:0006530", - "HP:0004352", - "UPHENO:0079536", - "UPHENO:0034217", - "HP:0010929", - "HP:0002049", - "UPHENO:0068296", + "UPHENO:0068068", + "HP:0012337", + "UPHENO:0068104", + "UPHENO:0068472", + "HP:0002152", + "UPHENO:0051741", + "UPHENO:0068477", + "UPHENO:0081550", + "PR:000018263", + "UBERON:0001969", + "UPHENO:0051648", + "UPHENO:0080658", + "UPHENO:0052116", + "CHEBI:33917", + "CHEBI:18133", + "CHEBI:17234", + "HP:0010876", + "CHEBI:35381", + "UPHENO:0068054", + "HP:0012212", + "UBERON:0001977", + "UPHENO:0051635", + "CHEBI:32988", + "UPHENO:0068565", + "UPHENO:0051801", + "UPHENO:0068247", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:16670", + "CHEBI:18059", + "UBERON:0034923", + "UPHENO:0081547", + "UPHENO:0015280", + "UPHENO:0081548", + "UPHENO:0051864", + "GO:1901615", + "GO:1901360", + "GO:0006629", + "UPHENO:0076293", + "UPHENO:0079534", + "UPHENO:0048763", + "HP:0430071", + "CHEBI:26191", + "CHEBI:35350", + "CHEBI:22313", + "CHEBI:51958", + "UBERON:0000949", + "UPHENO:0068047", + "HP:0000818", + "UPHENO:0048711", + "UPHENO:0082539", + "CHEBI:33822", + "UBERON:0011143", + "UPHENO:0080352", + "UBERON:0000179", "UPHENO:0066739", "UPHENO:0075902", - "UPHENO:0069254", - "HP:0001871", - "UPHENO:0051186", - "HP:0004322", - "HP:0004323", - "HP:0003149", - "UPHENO:0049628", - "UPHENO:0004459", - "UPHENO:0002411", - "UPHENO:0075666", - "UPHENO:0050080", - "UPHENO:0068971", - "UPHENO:0051960", - "UPHENO:0046356", - "UPHENO:0076289", - "UPHENO:0049709", - "UPHENO:0000541", - "UPHENO:0002816", - "HP:0001824", + "UPHENO:0051630", "UPHENO:0034253", - "HP:0001324", - "UPHENO:0082543", - "UPHENO:0068134", - "UPHENO:0067999", - "HP:0000124", - "HP:0010935", - "UPHENO:0078646", - "UPHENO:0034248", - "UPHENO:0068094", + "HP:0000093", + "GO:0055062", + "UBERON:0000468", + "UBERON:0002417", + "UPHENO:0051960", + "UPHENO:0034217", + "UPHENO:0080351", + "UPHENO:0076286", + "UPHENO:0050080", + "HP:0012213", + "PR:000050567", + "BFO:0000003", + "UPHENO:0049618", + "CHEBI:33259", + "CHEBI:24870", + "UBERON:0000064", + "HP:0012531", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "HP:0004364", + "UPHENO:0078589", + "UPHENO:0078628", + "GO:0048878", "HP:0002148", - "UPHENO:0050121", - "UPHENO:0046283", + "BFO:0000020", + "CHEBI:33675", + "UPHENO:0002442", + "PATO:0000001", + "CHEBI:16646", + "HP:0000124", + "UPHENO:0082835", + "UPHENO:0068040", "HP:0011277", - "UPHENO:0068292", - "UPHENO:0084654", - "UPHENO:0034351", + "GO:0071704", + "CHEBI:33318", + "CHEBI:24431", "HP:0003111", - "HP:0000079", - "HP:0004379", - "HP:0004360", - "UPHENO:0051640", - "UPHENO:0081546", - "UPHENO:0079822", - "UPHENO:0050539", - "HP:0011849", - "UPHENO:0048707", - "HP:0012211", - "UPHENO:0051847", - "HP:0001942", - "HP:0001507", - "UPHENO:0076294", + "HP:0032369", + "CHEBI:33302", + "UBERON:8450002", + "UPHENO:0068169", + "UPHENO:0082542", + "HP:0000119", + "UPHENO:0080638", "UPHENO:0002964", - "UPHENO:0084653", - "UPHENO:0002320", - "HP:0430071", - "UPHENO:0082835", - "UPHENO:0068040", - "HP:0100529", - "UPHENO:0001005", - "UPHENO:0068036", - "UPHENO:0050113", - "UPHENO:0051686", - "UPHENO:0001002", - "UPHENO:0046284", - "UPHENO:0068110", - "HP:0001947", - "UPHENO:0051645", - "UPHENO:0020748", - "UPHENO:0002442", - "UPHENO:0001003", - "UPHENO:0054261", - "UPHENO:0002536", - "UPHENO:0076692", - "UPHENO:0080352", - "HP:0000093", - "HP:0000001", - "HP:0004348", - "UPHENO:0082834", - "HP:0003774", + "HP:0032180", + "UPHENO:0068091", + "CHEBI:37622", + "GO:0006775", + "HP:0001871", + "UBERON:0000483", "UPHENO:0080659", + "CHEBI:33579", "UPHENO:0051668", - "UPHENO:0052116", - "HP:0000924", - "HP:0003330", - "HP:0010930", - "UPHENO:0046348", - "HP:0020129", - "HP:0000077", - "UPHENO:0068089", + "UBERON:0013702", + "CHEBI:33304", + "HP:0004348", + "HP:0000001", + "UBERON:0004111", + "UPHENO:0049628", + "CHEBI:33238", + "CHEBI:35788", + "CHEBI:24867", + "CHEBI:33256", + "UBERON:0000025", + "UPHENO:0034351", + "UPHENO:0084654", "UPHENO:0051937", + "CHEBI:33709", + "CHEBI:35605", + "CHEBI:33839", + "CHEBI:26079", + "HP:0031415", + "BFO:0000040", + "HP:0004349", + "UBERON:0001088", + "GO:0044281", + "UPHENO:0082534", "HP:0002749", - "UPHENO:0001001", - "UPHENO:0081440", - "UPHENO:0086908", - "HP:0012599", - "UPHENO:0075696", - "HP:0011842", - "HP:0002150", - "HP:0033127", - "BFO:0000001", - "UPHENO:0082539", - "UPHENO:0082538", - "UPHENO:0050433", - "UPHENO:0051763", - "HP:0003011", - "HP:0012337", + "UPHENO:0084653", + "CHEBI:73558", "UPHENO:0049904", - "UPHENO:0081550", - "HP:0012591", - "HP:0001939", - "UPHENO:0068064", - "HP:0002748", - "HP:0003126", - "UPHENO:0002803", - "UPHENO:0002832", - "UPHENO:0081547", - "UPHENO:0068511", + "UPHENO:0046362", + "UPHENO:0046291", + "CHEBI:33250", + "UBERON:0002113", + "HP:0000117", + "UPHENO:0002536", + "UPHENO:0076692", + "UPHENO:0051186", + "CHEBI:36963", + "HP:0000924", + "UBERON:0000174", + "GO:0001503", + "HP:0003119", + "UBERON:0000062", + "HP:0100529", + "CHEBI:35352", + "UBERON:0004819", + "CHEBI:36853", + "UPHENO:0051686", + "UPHENO:0001005", + "HP:0011849", + "UPHENO:0048707", + "HP:0000079", + "HP:0001507", + "CHEBI:37577", + "HP:0012591", + "UBERON:0002193", + "CHEBI:33241", + "HP:0002653", + "UPHENO:0076703", + "CHEBI:33635", + "UBERON:0000061", + "HP:0000118", + "GO:0006766", + "UBERON:0000178", + "UPHENO:0051763", + "GO:0008150", + "GO:0008152", + "CHEBI:23367", + "UPHENO:0012541", + "CHEBI:36360", + "UPHENO:0068491", + "CHEBI:36080", + "UBERON:0006314", + "HP:0000114", + "GO:0042592", + "UBERON:0000489", + "UPHENO:0082538", + "UBERON:0004120", + "UPHENO:0068538", + "UPHENO:0051804", + "UPHENO:0003116", + "HP:0003330", + "UPHENO:0080643", + "UBERON:0011216", + "UPHENO:0082875", + "UBERON:0001474", + "UBERON:0002100", + "UBERON:0001434", + "HP:0100530", + "UPHENO:0034391", + "UPHENO:0068049", + "CHEBI:51143", + "UPHENO:0051640", + "UPHENO:0081546", + "UPHENO:0001003", + "BFO:0000015", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0004459", + "GO:0098771", + "UPHENO:0077821", + "CHEBI:36357", + "HP:0012599", + "UPHENO:0075696", + "HP:0011842", + "HP:0033127", + "UBERON:0001062", + "CHEBI:26082", + "CHEBI:17823", + "HP:0001939", "BFO:0000002", - "HP:0004910", - "HP:0003287", - "HP:0001944", - "HP:0012072", + "CHEBI:36359", "HP:0003110", - "UPHENO:0034391", - "UPHENO:0010763", - "HP:0032943", - "UPHENO:0051191", - "HP:0011036", - "HP:0010967", - "HP:0034359", - "UPHENO:0054299", - "UPHENO:0051635", - "HP:0002157", - "HP:0000002", - "HP:0033354", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0068058", - "UPHENO:0080658", + "UPHENO:0068110", + "UBERON:0003103", + "UBERON:0001231", + "HP:0020129", + "UPHENO:0046348", + "UPHENO:0066927", + "CHEBI:15693", + "UPHENO:0081544", + "UBERON:0004211", + "UBERON:0007684", + "UBERON:0009773", + "UPHENO:0046284", + "HP:0003077", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0068533", + "CHEBI:47042", + "UBERON:0005173", + "UPHENO:0002411", + "UPHENO:0076285", + "UBERON:0015212", + "HP:0012211", + "UBERON:0000916", + "HP:0003117", + "UBERON:0002390", + "UBERON:0010000", + "UPHENO:0051709", + "HP:0001992", + "UPHENO:0066943", + "UBERON:0000479", + "CHEBI:33832", + "UBERON:0000475", + "UBERON:0011676", "UPHENO:0002332", "UPHENO:0078554", - "UPHENO:0082943", - "HP:0003646", - "HP:0031980", - "UPHENO:0046362", - "HP:0002900", - "UPHENO:0080556", - "HP:0003155", + "UBERON:0009569", + "CHEBI:24651", + "BFO:0000001", + "CHEBI:35341", + "UPHENO:0052038", + "UBERON:0005172", + "UPHENO:0024906", + "HP:0033331", + "UBERON:0006555", + "CHEBI:78616", + "HP:0000077", + "UBERON:0004122", + "HP:0010935", + "HP:0003165", + "UBERON:0013701", + "UBERON:0001285", "UPHENO:0068495", - "HP:0040156", - "UPHENO:0052008", - "UPHENO:0076299", - "UPHENO:0051670", + "HP:0002659", + "UBERON:0002204", + "UPHENO:0081440", + "HP:0032943", + "PR:000013429", + "HP:0100508", + "HP:0032245", + "HP:0002757", + "HP:0011843", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "HP:0000938", + "UPHENO:0049723", "UPHENO:0046286", - "BFO:0000020", - "HP:0011032", - "UPHENO:0068144", - "UPHENO:0068538", - "UPHENO:0019970", + "CHEBI:33608", + "HP:0100511", + "UPHENO:0001002", + "UPHENO:0082540", "HP:0003355", + "CHEBI:33559", "UPHENO:0051930", - "HP:0012252", - "UPHENO:0066943", - "UPHENO:0051709", - "HP:0001992", - "HP:0002086", - "HP:0000119", - "UPHENO:0082542", - "UPHENO:0081548", - "UPHENO:0015280", - "UPHENO:0078592", - "UPHENO:0077821", - "UPHENO:0068169", - "HP:0002909", - "UPHENO:0002642", - "UPHENO:0081423", - "UPHENO:0084541", - "UPHENO:0081424", - "UPHENO:0075159", - "HP:0012598", - "UPHENO:0087433", - "UPHENO:0076286", - "UPHENO:0080351", - "UPHENO:0020584", - "UPHENO:0050619", - "HP:0003109", - "HP:0001510", - "UPHENO:0004536", - "UPHENO:0049873", - "UPHENO:0049874", - "UPHENO:0068491", - "UPHENO:0012541", - "UPHENO:0068247", - "UPHENO:0068565", - "UPHENO:0051801", - "HP:0011804", - "UPHENO:0082794", - "HP:0000083", - "HP:0000117", - "UPHENO:0010795", - "UPHENO:0082761", - "HP:0004325", - "HP:0012622", - "UPHENO:0046344", - "UPHENO:0051678", - "HP:0003076", - "UPHENO:0000543", - "UPHENO:0068102", - "HP:0002206", - "PATO:0000001", - "HP:0002088", - "UPHENO:0051766", - "UPHENO:0051739", "UPHENO:0051900", - "UPHENO:0079824", - "HP:0011014", - "UPHENO:0080555", - "HP:0011015", - "HP:0004349", - "HP:0012603", - "UPHENO:0051866", + "UPHENO:0051739", + "CHEBI:25367", + "CHEBI:33285", + "HP:0012072", + "UPHENO:0076287", + "UPHENO:0046281", + "CHEBI:25806", + "CHEBI:33575", + "CHEBI:50047", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0002642", + "HP:0002909", + "HP:0000002", + "HP:0002157", + "HP:0033354", + "CHEBI:22984", + "UBERON:0000463", + "CHEBI:26020", + "HP:0040156", + "UPHENO:0051670", + "UPHENO:0051612", + "UPHENO:0068089", + "CHEBI:50860", + "CHEBI:36962", + "HP:0031980", + "CHEBI:36587", + "UPHENO:0068384", + "UBERON:0001008", + "CHEBI:24833", + "CHEBI:33521", + "UPHENO:0082541", + "CHEBI:36586", + "UPHENO:0076289", + "UPHENO:0068144", + "UPHENO:0068058", + "UPHENO:0068313", + "CHEBI:33674", + "UBERON:0000465", + "CHEBI:33582", + "UBERON:0003914", + "UPHENO:0079536", + "CHEBI:64709", + "UPHENO:0051628", "UPHENO:0050116", - "HP:0012606", - "HP:0001941", - "HP:0003648", - "UPHENO:0051804", - "HP:0004912", - "HP:0000118", - "UPHENO:0050791", - "UPHENO:0051736", - "HP:0012379", - "UPHENO:0051588", - "UPHENO:0049748", - "UPHENO:0082875", - "UPHENO:0034276", + "GO:0008202", + "UPHENO:0082834", + "GO:0042359", + "UPHENO:0068102", + "UPHENO:0000543", + "HP:0003076", + "CHEBI:27300", + "UPHENO:0001001", + "GO:0044238", + "UPHENO:0051680", + "UBERON:0015204", + "BFO:0000004", + "CHEBI:27136", "UPHENO:0068251", - "UPHENO:0024906", - "UPHENO:0034149", + "UPHENO:0049873", + "CHEBI:72695", + "UPHENO:0068064", "UPHENO:0051712", - "UPHENO:0049587", "UPHENO:0086128", - "UPHENO:0066781", - "HP:0034684", - "HP:0010932", - "UPHENO:0051777", - "UPHENO:0068054", - "UPHENO:0078616" + "UPHENO:0049587", + "CHEBI:33595" ], "has_phenotype_closure_label": [ - "Proximal renal tubular acidosis", - "Generalized aminoaciduria", - "Abnormality of urinary uric acid level", - "abnormal urine uric acid level", - "increased level of purines in independent continuant", - "increased level of uric acid in urine", - "Abnormality of urine bicarbonate level", - "abnormal hydrogencarbonate level", - "abnormal independent continuant hydrogencarbonate level", - "increased level of hydrogencarbonate in independent continuant", - "increased level of hydrogencarbonate in urine", - "Hyperchloremic metabolic acidosis", + "main group element atom", + "abnormal calcium atom level", + "s-block element atom", + "increased level of calcium atom in independent continuant", + "atom", + "Hypercalciuria", + "alkaline earth metal atom", + "Abnormality of urine calcium concentration", + "Renal insufficiency", + "non-functional kidney", + "Decreased glomerular filtration rate", + "Abnormal glomerular filtration rate", "Pain", "Constitutional symptom", - "abnormality of musculoskeletal system physiology", - "abnormal urine potassium atom level", - "Abnormal urine potassium concentration", - "Abnormal circulating fatty-acid concentration", - "abnormal amino acid derivative level", - "abnormal monocarboxylic acid metabolic process", - "abnormal carboxylic acid metabolic process", - "Abnormality of the mitochondrion", - "abnormal cellular_component", - "Abnormal circulating fatty-acid anion concentration", - "abnormal fatty acid metabolic process", - "Abnormal circulating carboxylic acid concentration", - "abnormal carnitine metabolic process", - "Impaired renal tubular reabsorption of phosphate", - "Hyperuricosuria", - "Abnormal circulating enzyme concentration or activity", - "Abnormal renal tubular resorption", - "Rickets", - "Abnormal blood monovalent inorganic cation concentration", - "increased level of organic acid in urine", - "Abnormal blood potassium concentration", - "abnormal independent continuant potassium(1+) level", - "abnormal blood potassium atom level", - "decreased level of potassium atom in blood", - "abnormal phenotype by ontology source", - "abnormal urine phosphate level", - "Abnormal glucose homeostasis", - "increased level of chemical entity in blood", - "Hyperphosphaturia", - "Abnormal circulating lipid concentration", - "Phenotypic abnormality", - "increased level of phosphate in urine", - "abnormal potassium atom level", - "abnormal skeletal system", - "abnormal renal system process", - "Renal tubular dysfunction", - "abnormal lipid metabolic process", - "Abnormality of the kidney", - "decreased level of uric acid in blood", - "Abnormal renal physiology", - "Weight loss", - "abnormal kidney", + "abnormal urine calcium atom level", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "metal atom", + "abnormality of anatomical entity height", + "abnormal anatomical entity morphology in the independent continuant", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Growth abnormality", + "blood serum", + "increased level of nitrogen molecular entity in blood", + "increased level of chemical entity in blood serum", + "Abnormal circulating nitrogen compound concentration", + "increased level of protein in blood", + "Alkalosis", + "Acute phase response", + "abnormal blood serum chemical entity level", + "increased level of protein", + "Abnormality of acid-base homeostasis", + "increased level of parathyroid hormone in independent continuant", + "abnormal acid bodily fluid level", + "protein", + "abnormal blood parathyroid hormone level", + "parathyroid hormone", + "calcium atom", + "increased blood serum role level", + "Elevated circulating parathyroid hormone level", + "abnormal independent continuant protein level", + "abnormal role blood serum level", + "blood plasma", "increased level of calcium atom in urine", - "Abnormality of mitochondrial metabolism", - "decreased level of chemical entity in independent continuant", - "Abnormal blood ion concentration", - "Decreased anatomical entity mass density", - "Abnormal blood phosphate concentration", - "Bicarbonate-wasting renal tubular acidosis", - "Abnormality of blood and blood-forming tissues", + "abnormal blood protein polypeptide chain level", + "Hyperproteinemia", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", + "increased level of monosaccharide in urine", + "abnormal urine glucose level", + "monosaccharide", + "abnormal independent continuant carbohydrate level", + "increased level of glucose in independent continuant", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "increased level of protein polypeptide chain in urine", + "increased level of protein polypeptide chain in independent continuant", + "macromolecule", + "peptide", + "increased level of chemical entity in bodily fluid", + "Hyperlipidemia", + "Abnormal urine protein level", + "abnormal hormone blood level", + "increased blood role level", + "abnormal hormone independent continuant level", + "increased level of lipid in independent continuant", + "increased independent continuant hormone level", + "increased level of parathyroid hormone in blood", + "hydroxy steroid", + "vitamin metabolic process", + "lipid metabolic process", + "small molecule metabolic process", + "Abnormal metabolism", + "abnormal primary metabolic process", + "increased level of calcitriol in blood", + "epithelial tube", + "Renal tubular dysfunction", + "epithelium", + "abnormal anatomical entity mass density", + "abnormal blood chemical entity level", + "abdomen element", + "primary amide", + "elemental molecular entity", + "organism substance", "decreased level of chemical entity in blood", "phenotype by ontology source", - "Decreased anatomical entity mass", - "Bicarbonaturia", - "increased bodily fluid acid level", - "decreased level of phosphate in blood", - "Elevated urinary carboxylic acid", - "Abnormal circulating metabolite concentration", - "decreased level of carnitine in blood", - "Renal sodium wasting", - "abnormal role blood level", - "Renal insufficiency", - "Dehydration", - "abnormal urine organic anion level", - "abnormal chemical homeostasis", - "decreased level of amino-acid betaine", - "Abnormal urine metabolite level", - "abnormal carbohydrate homeostasis", - "abnormal blood chemical entity level", - "abnormal acid independent continuant level", - "Abnormal circulating monocarboxylic acid concentration", + "Short stature", + "endocrine system", + "abnormally decreased functionality of the anatomical entity", + "abnormal blood plasma chemical entity level", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "Abnormal circulating hormone concentration", + "abnormal urine phosphate level", "Hypophosphatemia", - "Abnormal blood glucose concentration", - "Abnormal cellular phenotype", - "abnormally decreased functionality of the nephron tubule", - "abnormal urine hydrogencarbonate level", - "abnormality of anatomical entity physiology", + "monoatomic ion", + "abnormal acid independent continuant level", + "monoatomic entity", + "main body axis", + "abnormal monoatomic ion homeostasis", + "Abnormality of metabolism/homeostasis", + "non-functional anatomical entity", + "Osteopenia", + "abnormal role blood level", "abnormal homeostatic process", - "decreased muscle organ strength", - "decreased role blood level", - "abnormal blood phosphate level", - "increased level of protein polypeptide chain in urine", - "abnormal renal absorption", - "Abnormality of bone mineral density", - "Muscle weakness", - "decreased anatomical entity strength", - "Bone pain", - "Abnormality of the upper urinary tract", - "increased level of carboxylic acid in urine", - "Abnormal urine phosphate concentration", - "abnormal independent continuant calcium atom level", - "Abnormal musculoskeletal physiology", - "anatomical entity dysfunction in independent continuant", - "abnormal musculature", + "increased level of monosaccharide in independent continuant", + "D3 vitamins", + "abnormal chemical homeostasis", + "abnormal independent continuant lipid level", + "phosphorus molecular entity", "abnormal independent continuant monoatomic ion level", - "abnormal multicellular organism chemical entity level", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "abnormal monoatomic cation homeostasis", - "increased level of potassium atom in urine", + "excretory system", + "abnormal role bodily fluid level", + "abnormal biological_process", + "abnormal chemical entity level", + "polyatomic entity", + "Elevated urinary carboxylic acid", + "main group molecular entity", + "abnormality of kidney physiology", "decreased size of the anatomical entity", - "abnormal anatomical entity mass density", - "Abnormality of urine calcium concentration", - "decreased level of potassium atom in independent continuant", - "Metabolic acidosis", - "increased level of monosaccharide in urine", - "abnormal anatomical entity", + "blood", + "phosphate ion homeostasis", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "increased level of chemical entity in blood", + "decreased height of the anatomical entity", + "abnormal metabolite independent continuant level", + "abnormal endocrine system", + "Renal phosphate wasting", + "abnormal protein level", + "abnormal phosphate ion homeostasis", + "Abnormality of the musculoskeletal system", + "Alkalemia", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "pnictogen molecular entity", + "All", + "carbonyl compound", + "Recurrent fractures", + "material entity", + "organic amino compound", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "upper urinary tract", "Abnormality of urine homeostasis", - "Aciduria", - "Abnormality of the urinary system", - "abnormal independent continuant potassium atom level", - "abnormal blood potassium(1+) level", - "Acidosis", - "Abnormal skeletal morphology", - "decreased level of phosphate in independent continuant", - "Organic aciduria", - "phenotype", - "Abnormal urine protein level", - "Abnormal circulating purine concentration", - "abnormal independent continuant glucose level", - "Reduced bone mineral density", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "abnormal anatomical entity", + "abnormal independent continuant nitrogen molecular entity level", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "Abnormal circulating protein concentration", + "increased level of parathyroid hormone in blood serum", + "entity", + "abnormal blood lipid level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "anatomical entity", + "Abnormal blood ion concentration", + "decreased level of chemical entity in independent continuant", + "Decreased anatomical entity mass density", + "skeletal system", + "phosphoric acid derivative", "abnormality of renal system physiology", "quality", - "abnormal amino-acid betaine level", + "carbon oxoacid", "Abnormality of the genitourinary system", "abnormal independent continuant amino acid level", - "Abnormality of metabolism/homeostasis", - "anatomical entity fibrosis", - "abnormal urine chemical entity level", - "All", - "increased level of phosphate in independent continuant", - "abnormal lung morphology", "abnormal bone element mass density", - "increased level of calcium atom in independent continuant", - "decreased role independent continuant level", - "abnormal role bodily fluid level", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal independent continuant carnitine level", - "abnormal role urine level", - "increased level of monosaccharide in independent continuant", - "abnormal cell", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "increased level of amino acid in urine", - "decreased height of the multicellular organism", - "abnormality of muscle organ physiology", - "Growth delay", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "increased level of protein", - "Hypercalciuria", - "abnormal renal system", - "abnormal small molecule metabolic process", - "Abnormality of alkaline phosphatase level", - "increased independent continuant role level", - "increased level of chemical entity in independent continuant", - "Abnormal urine pH", - "Low-molecular-weight proteinuria", - "Abnormality of acid-base homeostasis", - "Abnormality of renal excretion", - "abnormal independent continuant chemical entity level", - "Pulmonary fibrosis", - "Abnormal circulating nitrogen compound concentration", - "Abnormal blood cation concentration", - "abnormal upper urinary tract", - "abnormal skeletal system morphology", - "Proteinuria", - "Abnormal cellular physiology", - "increased level of chemical entity", - "abnormal purine nucleobase metabolic process", - "increased level of rac-lactic acid in urine", - "increased independent continuant acid level", - "Hyperchloremic acidosis", - "Abnormal bone structure", - "abnormal independent continuant carbohydrate level", - "Decreased bone element mass density", - "decreased size of the multicellular organism", - "abnormal acid bodily fluid level", - "increased level of potassium atom in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", - "entity", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "abnormal genitourinary system", - "increased level of rac-lactic acid in independent continuant", - "increased level of glucose in independent continuant", - "increased level of organic molecular entity in independent continuant", - "Abnormal urinary electrolyte concentration", - "Stage 5 chronic kidney disease", - "increased level of glucose in urine", - "Abnormal bone ossification", - "abnormal nitrogen compound metabolic process", - "Glycosuria", - "abnormal respiratory system morphology", - "Increased susceptibility to fractures", - "Abnormal muscle physiology", + "abnormal multicellular organism chemical entity level", + "phosphate", + "non-connected functional system", + "calcitriol", + "genitourinary system", + "carbohydrate", + "increased bodily fluid role level", + "biological_process", + "renal tubule", + "abnormal vitamin D level", + "increased blood serum base level", + "abnormal blood phosphate level", + "multicellular organismal process", + "organ part", + "haemolymphatic fluid", + "abnormal skeletal system", + "multicellular anatomical structure", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "organic cyclic compound metabolic process", + "ion", + "biomacromolecule", + "p-block molecular entity", + "triol", + "increased level of amino acid in independent continuant", + "homeostatic process", "Abnormal homeostasis", - "Abnormal enzyme concentration or activity", - "abnormality of kidney physiology", - "Elevated circulating alkaline phosphatase concentration", - "abnormal phosphate ion homeostasis", - "Abnormality of the musculoskeletal system", - "abnormal protein level", - "increased level of nitrogen molecular entity in independent continuant", - "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", - "increased level of alkaline phosphatase, tissue-nonspecific isozyme", - "increased level of organic acid in independent continuant", + "Increased susceptibility to fractures", + "organochalcogen compound", + "monoatomic ion homeostasis", + "abnormal urine chemical entity level", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "hematopoietic system", + "multicellular organism", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "kidney epithelium", + "compound organ", + "decreased level of phosphate in blood", + "phosphorus oxoacid derivative", + "abnormal genitourinary system", + "abnormal size of multicellular organism", + "bone element", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "Organic aciduria", + "phenotype", + "organ system subdivision", "Aminoaciduria", - "abnormal monoatomic ion homeostasis", - "decreased multicellular organism mass", - "abnormal urine amino acid level", - "Abnormal circulating organic compound concentration", - "increased level of carboxylic acid in independent continuant", - "abnormal hematopoietic system", - "abnormal independent continuant carboxylic acid level", - "increased level of uric acid in independent continuant", - "Increased urinary potassium", - "increased independent continuant base level", - "Renal tubular acidosis", - "Abnormal pulmonary interstitial morphology", - "increased level of nitrogen molecular entity in blood", - "Abnormality of the musculature", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", + "Abnormality of vitamin D metabolism", + "increased level of protein in independent continuant", + "renal system", + "Azotemia", + "abnormal blood monoatomic ion level", + "Abnormal urine metabolite level", + "process", + "abnormal role independent continuant level", + "abnormal growth", + "independent continuant", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "oxoacid derivative", + "trunk", + "abnormality of musculoskeletal system physiology", + "lipid", + "material anatomical entity", + "occurrent", + "organ", + "delayed biological_process", + "Osteomalacia", + "oxoacid", + "anatomical system", + "organic cyclic compound", + "Abnormal bone structure", + "chemical homeostasis", + "skeletal element", + "cavitated compound organ", + "increased level of lipid in blood", + "kidney", + "abnormal independent continuant chemical entity level", + "carbon group molecular entity", + "Abnormal circulating calcium-phosphate regulating hormone concentration", + "bodily fluid", + "seco-steroid", + "metabolic process", + "heteroatomic molecular entity", + "steroid metabolic process", + "chemical entity", + "polyol", + "increased independent continuant acid level", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "nephron epithelium", + "uriniferous tubule", + "Proximal tubulopathy", + "organism subdivision", + "cyclic compound", + "steroid", + "excretory tube", + "lateral structure", + "nephron tubule", + "hydrogen molecular entity", + "fat-soluble vitamin metabolic process", + "trunk region element", + "tube", + "abnormal lipid metabolic process", + "Abnormality of the kidney", + "Bone pain", + "Abnormality of the upper urinary tract", + "Abnormal musculoskeletal physiology", + "anatomical entity dysfunction in independent continuant", + "abdomen", + "abdominal segment of trunk", + "subdivision of organism along main body axis", + "abnormal kidney", + "increased bodily fluid base level", + "increased level of glucose in urine", + "body proper", + "hemolymphoid system", + "Rickets", "abnormal size of anatomical entity", - "Decreased body weight", - "abnormal urine calcium atom level", - "decreased size of the anatomical entity in the independent continuant", - "abnormal size of multicellular organism", - "abnormal metabolite independent continuant level", - "decreased height of the anatomical entity", - "Decreased plasma carnitine", - "abnormal blood glucose level", - "Abnormality of body height", - "abnormal independent continuant organic anion level", - "Decreased multicellular organism mass", + "abnormal amino acid level", + "increased independent continuant role level", + "musculoskeletal system", + "abnormal upper urinary tract", + "increased level of calcitriol in independent continuant", + "increased level of carboxylic acid in independent continuant", + "organic substance metabolic process", + "High serum calcitriol", + "increased level of chemical entity", + "Abnormal urine phosphate concentration", + "increased level of carboxylic acid in urine", + "amino acid", + "molecule", + "abnormal blood nitrogen molecular entity level", + "organic hydroxy compound metabolic process", + "increased level of lipid", + "abnormality of multicellular organism height", "decreased level of chemical entity", "abnormal phosphate level", "Abnormal urine carboxylic acid level", - "abnormality of multicellular organism height", - "abnormality of anatomical entity height", - "abnormally decreased functionality of the anatomical entity", - "Short stature", - "decreased anatomical entity mass", - "Growth abnormality", - "Abnormal circulating carnitine concentration", - "abnormal cellular process", - "abnormal anatomical entity morphology in the independent continuant", - "Osteomalacia", - "delayed biological_process", - "abnormal growth", - "abnormal blood uric acid level", - "delayed growth", - "abnormal independent continuant protein polypeptide chain level", - "abnormal blood carnitine level", - "abnormal independent continuant uric acid level", - "non-functional kidney", - "Renal phosphate wasting", - "abnormality of multicellular organism mass", - "Abnormality of body weight", - "abnormality of anatomical entity mass", - "Chronic kidney disease", - "decreased level of carnitine in independent continuant", - "Hypoglycemia", - "abnormal calcium atom level", - "abnormal regulation of body fluid levels", - "Abnormal lung morphology", - "abnormal blood nitrogen molecular entity level", - "Abnormal respiratory system morphology", - "lung fibrosis", - "continuant", - "Abnormal circulating nucleobase concentration", - "abnormal mitochondrion", - "abnormal glucose homeostasis", - "abnormal urine sodium atom level", - "abnormal independent continuant sodium atom level", - "abnormal independent continuant nitrogen molecular entity level", - "Lacticaciduria", - "Abnormal urine sodium concentration", - "non-functional anatomical entity", - "abnormal sodium atom level", - "Hypophosphatemic rickets", - "decreased level of purines", - "abnormal independent continuant phosphate level", - "Abnormality of the skeletal system", - "Abnormality of fluid regulation", - "abnormal nucleobase metabolic process", - "abnormal respiratory system", - "abnormal cellular metabolic process", - "abnormal primary metabolic process", - "Hypouricemia", + "primary metabolic process", + "glandular system", + "increased level of chemical entity in urine", + "increased level of amino acid in urine", + "abnormal role urine level", + "increased level of chemical entity in independent continuant", + "carboxylic acid", + "Abnormal urine pH", + "organic polycyclic compound", + "Abnormal renal physiology", + "chalcogen molecular entity", + "increased level of nitrogen molecular entity in independent continuant", + "abnormal urine amino acid level", + "nitrogen molecular entity", + "Abnormality of the urinary system physiology", + "hydroxycalciol", + "increased level of vitamin D", + "Abnormal circulating organic compound concentration", + "abnormal vitamin D metabolic process", + "carboxamide", + "Generalized aminoaciduria", + "organic molecular entity", + "oxygen molecular entity", + "increased level of organic acid in urine", + "organic molecule", + "Abnormality of the urinary system", + "Aciduria", + "hydroxides", + "increased level of organic acid in independent continuant", + "increased independent continuant base level", + "increased level of organic molecular entity in independent continuant", + "increased level of chemical entity in blood plasma", + "s-block molecular entity", + "organonitrogen compound", + "heteroorganic entity", + "Abnormal circulating metabolite concentration", + "ossification", + "organic acid", + "organooxygen compound", + "Phenotypic abnormality", + "Abnormal circulating lipid concentration", + "polycyclic compound", + "carbohydrates and carbohydrate derivatives", + "organic hydroxy compound", + "abnormal small molecule metabolic process", + "abnormal renal system", + "vitamin D", + "excreta", + "organic oxo compound", "abnormal metabolic process", - "abnormal blood monoatomic ion level", - "decreased level of uric acid in independent continuant", - "Azotemia", - "Hypokalemia", - "Decreased circulating purine concentration" + "Abnormality of vitamin metabolism", + "Abnormality of the endocrine system", + "abnormal lipid level", + "vitamin D metabolic process", + "disconnected anatomical group", + "hydroxy seco-steroid", + "abnormal independent continuant calcium atom level", + "abnormal independent continuant parathyroid hormone level", + "abnormal vitamin metabolic process" ], - "has_phenotype_count": 39, + "has_phenotype_count": 17, + "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": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, "highlight": null, "score": null }, @@ -4326,7609 +6774,12862 @@ "Lung adenocarcinoma" ], "has_phenotype_closure": [ + "HP:0011793", + "HP:0002664", "HP:0100526", - 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"HP:0006487", - "HP:0002979", - "UPHENO:0004536", - "UPHENO:0051960", - "UPHENO:0034253", - "UPHENO:0050080", - "UPHENO:0049904", + "UBERON:0010000", "UPHENO:0051709", - "UPHENO:0051804", + "UBERON:0002390", + "CHEBI:33608", + "HP:0000940", + "UPHENO:0051847", + "UBERON:0005177", + "UPHENO:0001002", + "HP:0011025", + "HP:0001969", + "UBERON:0005055", + "BFO:0000015", + "UBERON:0002048", "UPHENO:0068110", + "UBERON:0003103", + "HP:0005576", + "UBERON:0001005", + "CHEBI:33256", + "UBERON:0000025", + "CHEBI:24867", + "UBERON:0000171", + "HP:0003355", + "UPHENO:0019970", + "UBERON:0007798", + "CHEBI:33304", + "HP:0002813", + "UBERON:0013702", + "HP:0002148", + "HP:0002097", + "HP:0002086", + "GO:0001503", + "UBERON:0005181", + "UBERON:0004905", + "PATO:0000001", + "HP:0002088", + "UBERON:0001004", + "UBERON:0001285", + "UBERON:0013701", + "UBERON:0009569", + "UBERON:0000475", + "UPHENO:0087433", + "UPHENO:0020748", + "UBERON:0001558", + "UBERON:0002075", + "UBERON:0004119", + "HP:0032263", "UPHENO:0046284", + "HP:0001939", + "UPHENO:0086128", "UPHENO:0049587", - "UPHENO:0068091", + "UPHENO:0087993", + "GO:0008152", + "HP:0002795", + "UBERON:0034925", + "GO:0042592", + "UPHENO:0049628", + "CHEBI:33238", + "GO:0008150", + "GO:0048878", + "UBERON:0003657", + "CHEBI:23367", + "UPHENO:0077821", + "CHEBI:36357", + "GO:0050801", + "HP:0000083", + "GO:0032501", + "UBERON:0003823", + "HP:0001995", + "CHEBI:33259", + "UPHENO:0087427", + "UPHENO:0078554", + "UPHENO:0002332", + "UPHENO:0051763", + "UPHENO:0080362", + "UPHENO:0051937", + "UBERON:0000915", + "UPHENO:0034391", + "UPHENO:0051640", + "UPHENO:0081546", + "HP:0004360", + "UPHENO:0080659", + "CHEBI:33579", + "UPHENO:0051668", + "UPHENO:0050080", + "UBERON:0002428", + "GO:0098771", + "UPHENO:0004459", + "UBERON:0000065", "HP:0032180", - "UPHENO:0041258", - "UPHENO:0051847", - "UPHENO:0075902", - "UPHENO:0066739", - "UPHENO:0034217", + "CHEBI:26082", + "CHEBI:36963", + "UPHENO:0051186", "HP:0003111", - "HP:0002206", - "HP:0001942", - "UPHENO:0076294", - "UPHENO:0079536", + "CHEBI:24431", + "CHEBI:33241", + "UPHENO:0049904", + "UBERON:0000978", + "HP:0100529", + "HP:0045049", + "UBERON:0000982", + "UPHENO:0034217", + "CHEBI:33839", + "CHEBI:26079", + "UPHENO:0051960", "UPHENO:0034351", "UPHENO:0084654", - "HP:0003774", - "UPHENO:0041591", - "UPHENO:0082834", - "HP:0004349", - "HP:0002748", - "UPHENO:0048707", - "HP:0011849", - "HP:0002664", - "UPHENO:0082543", + "UPHENO:0066739", + "HP:0004912", + "HP:0001941", + "UPHENO:0051804", + "HP:0040156", + "HP:0002857", + "CHEBI:26020", + "UBERON:0000463", + "UBERON:0006314", + "CHEBI:33675", + "UBERON:0002193", + "CHEBI:33302", + "UPHENO:0076740", + "UPHENO:0076294", + "HP:0001942", + "UPHENO:0079873", + "HP:0002206", + "UPHENO:0084653", + "HP:0003330", + "HP:0004348", + "HP:0004918", + "UBERON:0000170", "UPHENO:0068089", - "HP:0004918" + "HP:0012337", + "CHEBI:72695", + "UPHENO:0068064", + "UBERON:0003914", + "CHEBI:64709", + "UPHENO:0079536", + "UPHENO:0076289", + "UBERON:0000483", + "UBERON:0002471", + "HP:0002979", + "UPHENO:0082543", + "UPHENO:0081547", + "UPHENO:0041573", + "HP:0030878", + "HP:0045051" ], "has_phenotype_closure_label": [ - "Neoplasm of the lung", "Neoplasm of the respiratory system", - "Lung adenocarcinoma", - "Hypertension", - "Abnormality of the cardiovascular system", + "Neoplasm", "Abnormal systemic blood pressure", + "abnormal cardiovascular system", + "Hypertension", + "disconnected anatomical group", "Abnormality of the vasculature", + "cardiovascular system", + "blood vasculature", + "Renal insufficiency", + "non-functional kidney", + "abnormal vasculature", "Chronic kidney disease", - "non-functional anatomical entity", - "abnormal kidney morphology", - "Tubulointerstitial fibrosis", - "abnormal kidney epithelium morphology", + "abnormal kidney", + "Abnormal nephron morphology", + "abdominal segment of trunk", + "abdomen", + "Abnormality of the upper urinary tract", "Abnormality of the kidney", - "Renal fibrosis", + "Abnormal renal insterstitial morphology", + "abdomen element", + "excretory tube", + "cavitated compound organ", + "tissue", + "anatomical cluster", + "abnormal kidney epithelium morphology", "Abnormal renal morphology", - "abnormal kidney", - "abnormal renal system morphology", - "Aciduria", - "increased level of amino acid in independent continuant", - "abnormal amino acid level", - "increased level of carboxylic acid in urine", - "Non-small cell lung carcinoma", + "renal tubule", + "uriniferous tubule", + "nephron epithelium", + "Increased blood pressure", + "Tubulointerstitial fibrosis", + "s-block molecular entity", + "Abnormal urine pH", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", + "abnormal nephron tubule morphology", "increased level of organic acid in urine", + "increased level of amino acid in urine", + "increased level of carboxylic acid in urine", + "carbon oxoacid", + "carbonyl compound", + "nephron tubule", + "Abnormal renal tubule morphology", + "hydrogen molecular entity", + "carboxylic acid", "abnormal urine amino acid level", - "abnormal cardiovascular system", - "Aminoaciduria", - "increased level of organic acid in independent continuant", - "abnormal independent continuant glucose level", - "increased level of glucose in urine", - "Abnormal urine carboxylic acid level", + "molecule", + "abnormal independent continuant amino acid level", + "amino acid", + "oxoacid", + "increased level of carboxylic acid in independent continuant", + "abnormal amino acid level", + "hexose", + "aldose", + "glucose", + "Lung adenocarcinoma", + "increased level of monosaccharide in urine", + "increased level of monosaccharide in independent continuant", + "abnormal urine glucose level", + "carbohydrates and carbohydrate derivatives", + "monosaccharide", + "abnormal independent continuant carbohydrate level", "increased level of glucose in independent continuant", + "abnormal metabolite independent continuant level", + "organooxygen compound", + "heteroorganic entity", + "urine", + "increased independent continuant base level", + "Abnormality of the urinary system physiology", + "Abnormal urine metabolite level", "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "oxygen molecular entity", + "organic molecular entity", + "genitourinary system", + "abnormal genitourinary system", + "Abnormal tubulointerstitial morphology", + "upper urinary tract", + "Abnormality of urine homeostasis", + "abnormal independent continuant nitrogen molecular entity level", + "carboxamide", + "organic amino compound", + "organic oxo compound", + "excreta", + "Aciduria", "Abnormality of the urinary system", - "abnormality of renal system physiology", - "abnormal upper urinary tract", - "Proteinuria", - "abnormal role urine level", - "Stage 5 chronic kidney disease", - "increased level of organic molecular entity in independent continuant", - "abnormal urine chemical entity level", + "increased level of protein polypeptide chain in independent continuant", + "abnormal renal system", + "carbon group molecular entity", + "renal system", + "macromolecule", + "Abnormality of the cardiovascular system", + "Abnormality of the genitourinary system", + "abnormal respiratory system", + "limb joint", + "limb bone", + "subdivision of organism along appendicular axis", + "bone of free limb or fin", + "hindlimb", + "Bowing of the long bones", + "anatomical structure", + "anatomical conduit", + "shape anatomical entity in independent continuant", + "organonitrogen compound", + "appendage", + "tube", + "Abnormality of acid-base homeostasis", + "Metabolic acidosis", + "abnormal renal system morphology", + "abnormal hindlimb joint", + "abnormal leg", + "vessel", + "diaphysis", + "non-functional anatomical entity", + "thoracic segment organ", + "blood vessel", + "multi-limb segment region", + "kidney", + "articulation", + "endochondral element", + "pelvic complex", + "Aminoaciduria", + "organ system subdivision", "increased level of nitrogen molecular entity in independent continuant", - "Abnormality on pulmonary function testing", - "abnormality of anatomical entity physiology", - "abnormal nephron morphology", - "abnormality of respiratory system physiology", - "Abnormality of the skeletal system", - "Abnormality of urine homeostasis", - "shape anatomical entity", - "abnormal limb", - "Abnormal renal physiology", - "curved anatomical entity", - "Abnormal nephron morphology", - "Hypophosphatemic rickets", - "abnormal biological_process", - "abnormal chemical entity level", - "abnormal metabolite independent continuant level", - "specifically dependent continuant", - "abnormality of cardiovascular system physiology", - "increased level of carboxylic acid in independent continuant", - "Abnormal DLCO", + "abnormal diaphysis morphology in the independent continuant", + "posterior region of body", + "multicellular anatomical structure", + "abnormal anatomical entity, curved", + "abnormal anatomical entity morphology in the independent continuant", + "Organic aciduria", "Abnormal diaphysis morphology", - "lung fibrosis", + "Abnormal DLCO", + "increased level of organic molecular entity in independent continuant", + "abnormal limb bone", "shape long bone", - "abnormal genitourinary system", - "abnormal hindlimb morphology", - "abnormal knee morphology", - "abnormal skeletal joint morphology", - "Abnormal blood phosphate concentration", + "lung fibrosis", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", + "Phenotypic abnormality", + "zone of bone organ", + "Non-small cell lung carcinoma", + "skeletal joint", + "abnormal limb bone morphology", + "appendicular skeleton", + "limb endochondral element", + "limb skeleton subdivision", + "skeletal system", + "blood", + "abdominal segment element", + "Glycosuria", + "Abnormal bone ossification", + "phenotype", + "organ part", + "phenotype by ontology source", + "Proteinuria", + "protein-containing material entity", + "abnormal skeletal system morphology", + "amide", "Abnormality of limb bone", - "Abnormality of lower limb joint", - "increased independent continuant base level", - "Abnormal pulmonary interstitial morphology", - "abnormal independent continuant nitrogen molecular entity level", - "abnormal anatomical entity", - "increased level of chemical entity", - "abnormal hindlimb zeugopod", - "Abnormal urine protein level", - "abnormal homeostatic process", - "Abnormal cardiovascular system physiology", + "organism subdivision", + "respiratory tract", + "anatomical collection", + "All", + "abnormal lung morphology", + "Emphysema", + "multicellular organismal process", + "abnormal blood phosphate level", + "decreased level of chemical entity in blood", + "shape hindlimb zeugopod", + "phosphate ion homeostasis", + "long bone", + "independent continuant", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal skeletal system", + "abnormal upper urinary tract", + "musculoskeletal system", + "curvature anatomical entity", + "Abnormal knee morphology", "abnormal shape of continuant", + "homeostatic process", + "organochalcogen compound", + "Abnormal homeostasis", + "Abnormal respiratory system physiology", + "subdivision of skeletal system", + "entity", + "bone element", + "paired limb/fin", + "polypeptide", + "Abnormality of bone mineral density", + "abnormal limb", + "Abnormality of limbs", + "curvature anatomical entity in independent continuant", + "Abnormality of limb bone morphology", + "abnormality of cardiovascular system physiology", + "limb", + "abnormal anatomical entity", + "zone of long bone", + "Hyperchloremic metabolic acidosis", + "Stage 5 chronic kidney disease", + "mesoderm-derived structure", + "abnormal appendicular skeleton morphology", "Abnormality of the lower limb", "curved anatomical entity in independent continuant", - "abnormal appendicular skeleton morphology", - "Abnormal respiratory system morphology", - "abnormal urine glucose level", - "increased level of protein polypeptide chain in independent continuant", - "entity", - "abnormal limb bone morphology", - "abnormal hematopoietic system", - "Reduced bone mineral density", - "phenotype", - "Organic aciduria", - "decreased level of phosphate in independent continuant", - "abnormal independent continuant carboxylic acid level", - "Genu valgum", - "increased bodily fluid role level", - "abnormal role independent continuant level", - "Abnormality of the upper urinary tract", - "shape anatomical entity in independent continuant", - "Abnormality of the urinary system physiology", - "Abnormality of the respiratory system", + "Abnormal urine carboxylic acid level", + "decreased level of chemical entity", + "abnormal phosphate level", + "anatomical entity", + "nephron", "curved long bone", - "abnormal diaphysis morphology", - "abnormal anatomical entity morphology", + "occurrent", + "organ", + "Abnormality of the calf", + "paired limb/fin segment", + "Abnormality of the knee", + "Elevated urinary carboxylic acid", + "skeleton", + "Neoplasm by anatomical site", + "p-block molecular entity", + "appendage girdle complex", + "abnormal hindlimb zeugopod morphology", + "vasculature", + "hindlimb zeugopod", + "Abnormal long bone morphology", + "Hyperchloremic acidosis", + "Abnormal bone structure", + "Abnormal renal physiology", + "chalcogen molecular entity", + "abnormal knee", + "abnormal anatomical entity mass density", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "skeleton of limb", + "Abnormal pulmonary interstitial morphology", + "material anatomical entity", + "abnormal knee morphology", + "Abnormal respiratory system morphology", + "shape anatomical entity", + "curved anatomical entity", + "increased level of protein polypeptide chain in urine", + "limb segment", "Abnormal joint morphology", + "increased level of amino acid in independent continuant", + "thoracic segment of trunk", + "lateral structure", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "abnormal diaphysis morphology", "Abnormal appendicular skeleton morphology", - "increased level of monosaccharide in urine", - "Abnormal skeletal morphology", - "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "Abnormality of acid-base homeostasis", - "Increased blood pressure", + "material entity", + "subdivision of skeleton", + "endochondral bone", + "leg", + "monoatomic ion", + "articular system", + "Hypophosphatemia", "curved hindlimb zeugopod", - "abnormal long bone morphology", - "abnormal phosphate level", - "abnormal nephron tubule morphology", + "nitrogen molecular entity", "abnormal limb morphology", - "abnormal phenotype by ontology source", - "Phenotypic abnormality", - "abnormal independent continuant amino acid level", - "Abnormality of the genitourinary system", - "shape hindlimb zeugopod", - "non-functional kidney", - "abnormal diaphysis morphology in the independent continuant", - "abnormality of kidney physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal hindlimb zeugopod morphology", - "abnormal renal system", - "Abnormal long bone morphology", - "Abnormality of the knee", - "Abnormal renal tubule morphology", - "abnormal independent continuant carbohydrate level", - "Abnormal bone structure", - "curvature anatomical entity", - "abnormal skeletal system", - "quality", + "aldohexose", + "zone of organ", + "abnormal long bone morphology", + "abnormal skeletal joint morphology", + "lower limb segment", + "Genu valgum", + "skeletal element", + "zeugopod", + "chemical homeostasis", + "hindlimb joint", + "trunk", + "oxoacid derivative", + "Renal fibrosis", + "abnormal hindlimb morphology", + "abnormal independent continuant glucose level", "abnormal anatomical entity morphology in the pelvic complex", - "abnormal limb bone", - "Abnormal knee morphology", - "Abnormal respiratory system physiology", - "Abnormal homeostasis", + "abnormal hindlimb zeugopod, curved", + "epithelium", + "system", + "subdivision of tube", + "Abnormality of lower limb joint", + "anatomical system", + "Abnormal lung morphology", + "haemolymphatic fluid", + "abnormal independent continuant phosphate level", "Bowing of the legs", - "Abnormality of limb bone morphology", - "curvature anatomical entity in independent continuant", - "Abnormality of limbs", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity, curved", - "Glycosuria", - "Abnormality of the calf", + "Abnormality of the skeletal system", + "lung", + "subdivision of organism along main body axis", + "pelvic appendage", + "endoderm-derived structure", + "pair of lungs", "abnormal respiratory system morphology", - "Renal insufficiency", - "abnormal monoatomic ion homeostasis", - "Abnormality of metabolism/homeostasis", - "increased level of amino acid in urine", - "increased level of chemical entity in urine", - "increased level of chemical entity in bodily fluid", - "Abnormal lung morphology", - "abnormal vasculature", - "abnormal respiratory system", - "All", - "abnormal lung morphology", - "Hypophosphatemia", - "abnormal multicellular organism chemical entity level", + "viscus", + "circulatory system", + "excretory system", "abnormal independent continuant monoatomic ion level", - "increased level of protein polypeptide chain in urine", - "Emphysema", - "abnormal blood phosphate level", - "abnormal phosphate ion homeostasis", - "abnormal chemical homeostasis", + "multicellular organism", + "hematopoietic system", + "thoracic cavity element", + "epithelial tube", + "respiratory system", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "trunk region element", + "respiratory airway", + "abnormal kidney morphology", + "main body axis", + "organic acid", + "abnormal hindlimb zeugopod", + "ossification", "Abnormal circulating metabolite concentration", - "Bowing of the long bones", - "Abnormality of bone mineral density", - "Hyperchloremic acidosis", - "Elevated urinary carboxylic acid", - "abnormal hindlimb joint", - "abnormal leg", - "abnormal independent continuant phosphate level", - "Pulmonary fibrosis", - "abnormal independent continuant chemical entity level", - "decreased level of chemical entity in independent continuant", + "Abnormality of the respiratory system", + "knee", + "Hypophosphatemic rickets", + "increased level of glucose in urine", + "Decreased DLCO", + "body proper", + "lower respiratory tract", + "Abnormal cardiovascular system physiology", "Abnormal blood ion concentration", + "decreased level of chemical entity in independent continuant", "Decreased anatomical entity mass density", - "phenotype by ontology source", - "decreased level of chemical entity in blood", - "decreased level of chemical entity", - "Abnormality of blood and blood-forming tissues", - "Decreased DLCO", - "continuant", + "metabolic process", + "abnormal monoatomic ion homeostasis", "anatomical entity fibrosis", - "Neoplasm by anatomical site", - "abnormal knee", - "abnormal anatomical entity mass density", - "increased level of monosaccharide in independent continuant", - "Decreased bone element mass density", - "abnormal bone element mass density", - "Neoplasm", - "abnormal hindlimb zeugopod, curved", - "Rickets", - "Abnormal bone ossification", + "Abnormality of metabolism/homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "paired limb/fin skeleton", + "heteroatomic molecular entity", + "pnictogen molecular entity", + "abnormal chemical homeostasis", + "chemical entity", + "increased independent continuant acid level", + "organism substance", + "bodily fluid", + "molecular entity", + "Abnormality of blood and blood-forming tissues", + "Neoplasm of the lung", + "abnormality of renal system physiology", + "quality", + "phosphoric acid derivative", + "inorganic ion homeostasis", + "Reduced bone mineral density", + "polyatomic entity", + "abnormality of respiratory system physiology", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "abnormal biological_process", + "abnormal role bodily fluid level", + "ion", + "phosphorus molecular entity", + "abnormal blood monoatomic ion level", + "respiration organ", + "increased bodily fluid acid level", + "abnormal independent continuant chemical entity level", + "Pulmonary fibrosis", + "appendicular skeletal system", + "abnormal chemical entity level", + "process", + "abnormal role independent continuant level", + "carbohydrate", + "biological_process", + "increased bodily fluid role level", + "phosphate", + "abnormal multicellular organism chemical entity level", + "Abnormality of the musculoskeletal system", + "abnormal phosphate ion homeostasis", "abnormal blood chemical entity level", + "monoatomic entity", "abnormal acid independent continuant level", - "abnormal acid bodily fluid level", + "abnormality of kidney physiology", + "main group molecular entity", + "abnormal nephron morphology", + "multi organ part structure", + "Rickets", + "hemolymphoid system", + "abnormal bone element mass density", + "kidney epithelium", + "compound organ", + "Abnormal blood phosphate concentration", + "phosphorus oxoacids and derivatives", + "abnormality of anatomical entity physiology", + "Decreased bone element mass density", "increased independent continuant role level", - "Abnormal urine pH", + "increased level of chemical entity", "increased level of chemical entity in independent continuant", + "abnormal acid bodily fluid level", "Acidosis", - "Abnormal renal insterstitial morphology", - "Abnormal tubulointerstitial morphology", - "Hyperchloremic metabolic acidosis", - "Abnormal urine metabolite level", - "abnormal blood monoatomic ion level", - "increased bodily fluid acid level", - "Metabolic acidosis", - "decreased level of phosphate in blood", - "abnormal role bodily fluid level", - "increased independent continuant acid level" + "increased level of chemical entity in bodily fluid", + "vascular system", + "increased level of chemical entity in urine", + "proximo-distal subdivision of respiratory tract", + "abnormal homeostatic process", + "Abnormality on pulmonary function testing", + "continuant", + "protein polypeptide chain", + "peptide", + "abnormal role urine level" ], "has_phenotype_count": 14, "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": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "HP:0001994", - "category": "biolink:PhenotypicFeature", - "name": "Renal Fanconi syndrome", - "full_name": null, - "deprecated": null, - "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", - "xref": [ - "MSH:D005198", - "SNOMEDCT_US:236468006", - "SNOMEDCT_US:44673006", - "UMLS:C0341703" - ], - "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": [], - "has_phenotype_label": [], - "has_phenotype_closure": [], - "has_phenotype_closure_label": [], - "has_phenotype_count": 0, - "highlight": null, - "score": null - }, - { - "id": "MONDO:0009213", + "id": "MONDO:0024525", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group C", + "name": "Fanconi renotubular syndrome 1", "full_name": null, "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.", - "xref": [ - "DOID:0111087", - "GARD:15168", - "NCIT:C125704", - "OMIM:227645", - "UMLS:C3468041" - ], + "description": null, + "xref": ["DOID:0080757", "GARD:9118", "OMIM:134600"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FA3", - "FACC", - "FANCC", - "Fanconi Anemia, complementation group type C", - "Fanconi anaemia complementation group type C", - "Fanconi anemia complementation group C", - "Fanconi anemia complementation group type C", - "Fanconi anemia, complementation group C", - "Fanconi pancytopenia type 3", - "Fanconi pancytopenia, type 3", - "facc" + "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:0000086", - "HP:0001875", - "HP:0009777", - "HP:0001249", - "HP:0011940", - "HP:0000252", - "HP:0000957", - "HP:0000815", - "HP:0001017", - "HP:0000104", - "HP:0003974", - "HP:0000028", - "HP:0001876", - "HP:0000325", - "HP:0009778", - "HP:0001873", - "HP:0001511", - "HP:0001896", - "HP:0000568", - "HP:0001518", - "HP:0003221", - "HP:0009943", - "HP:0005528", - "HP:0000978", - "HP:0000953", - "HP:0001903", - "HP:0001629", - "HP:0001909", - "HP:0000081", - "HP:0000085", - "HP:0001371", + "HP:0002749", + "HP:0001942", + "HP:0003648", + "HP:0001324", + "HP:0002148", + "HP:0000124", + "HP:0003109", + "HP:0002900", + "HP:0002748", + "HP:0034359", + "HP:0003076", + "HP:0003155", + "HP:0003355", "HP:0004322", - "HP:0000365", - "HP:0020073", - "HP:0000486", - "HP:0003214", - "HP:0003213", - "HP:0000286" + "HP:0003126", + "HP:0000083" ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", - "Absent thumb", - "Intellectual disability", - "Anterior wedging of T12", - "Microcephaly", - "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Anemic pallor", - "Renal agenesis", - "Absent radius", - "Cryptorchidism", - "Pancytopenia", - "Triangular face", - "Short thumb", - "Thrombocytopenia", - "Intrauterine growth retardation", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", - "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bone marrow hypocellularity", - "Bruising susceptibility", - "Hyperpigmentation of the skin", - "Anemia", - "Ventricular septal defect", - "Leukemia", - "Duplicated collecting system", - "Horseshoe kidney", - "Flexion contracture", + "Osteomalacia", + "Metabolic acidosis", + "Lacticaciduria", + "Muscle weakness", + "Hypophosphatemia", + "Renal tubular dysfunction", + "Hyperphosphaturia", + "Hypokalemia", + "Rickets", + "Impaired renal tubular reabsorption of phosphate", + "Glycosuria", + "Elevated circulating alkaline phosphatase concentration", + "Aminoaciduria", "Short stature", - "Hearing impairment", - "Hypopigmented macule", - "Strabismus", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Epicanthus" + "Low-molecular-weight proteinuria", + "Renal insufficiency" ], "has_phenotype_closure": [ - "HP:0000492", - "HP:0032039", - "UPHENO:0087058", - "UPHENO:0065599", - "HP:0030669", - "HP:0000286", - "UPHENO:0049964", - "HP:0003254", - "UPHENO:0049671", - "UPHENO:0049952", - "HP:0003214", - "HP:0012373", - "HP:0000549", - "UPHENO:0079828", - "UPHENO:0049586", - "HP:0020073", - "UPHENO:0080585", - "UPHENO:0050620", - "HP:0000365", - "UPHENO:0052231", - "HP:0000598", - "UPHENO:0005518", - "UPHENO:0080352", + "CHEBI:32988", + "UPHENO:0068565", + "CHEBI:16541", + "CHEBI:15841", + "CHEBI:37622", + 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"HP:0010461", - "HP:0000929", - "HP:0000240", - "UPHENO:0087928", - "HP:0000078", - "UPHENO:0005016", - "HP:0000119", - "UPHENO:0026128", - "HP:0000152", - "HP:0000364", - "BFO:0000002", - "HP:0012639", - "UPHENO:0026980", - "UPHENO:0075997", - "UPHENO:0020888", - "UPHENO:0086002", - "HP:0000252", - "UPHENO:0069254", - "UPHENO:0075220", - "UPHENO:0080126", - "UPHENO:0076799", - "HP:0001873", - "HP:0001034", - "HP:0002011", - "UPHENO:0074575", - "UPHENO:0009399", - "UPHENO:0025211", - "UPHENO:0050121", - "UPHENO:0074572", - "HP:0001574", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0041381", - "UPHENO:0059829", - "UPHENO:0087547", - "UPHENO:0001001", - "UPHENO:0088170", - "UPHENO:0082682", - "UPHENO:0003811", - "UPHENO:0080221", - "UPHENO:0015327", - "UPHENO:0002635", - "UPHENO:0002844", - "UPHENO:0049587", - "UPHENO:0025100", - "HP:0007364", - "UPHENO:0076739", - "UPHENO:0024906", - "UPHENO:0049985", - "UPHENO:0078729", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0087369", - "UPHENO:0085195", - "UPHENO:0041467", - "HP:0000135", - "HP:0000815", - "HP:0009380", - "UPHENO:0060026", - "UPHENO:0002378", - "HP:0000080", - "UPHENO:0076710", - "HP:0008373", - "UPHENO:0066972", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0050113", - "HP:0000104", - "UPHENO:0002219", - "HP:0011843", - "HP:0011729", - "UPHENO:0020809", - "HP:0000957", - "HP:0009823", - "UPHENO:0087510" - ], - "has_phenotype_closure_label": [ - "abnormal zone of skin morphology", - "abnormal ocular adnexa", - "abnormal skin of head morphology", - "abnormal skin of face morphology", - "increased size of the anatomical entity in independent continuant", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "decreased size of the multicellular organism", + "CHEBI:26216", + "PR:000003968", + "UBERON:0000479", + "UPHENO:0051686", + "CHEBI:36915", + "UBERON:0000475", + "UBERON:0011676", + "UBERON:0009569", + "GO:0003014", + "UBERON:0005172", + "CHEBI:78616", + "HP:0000077", + "UBERON:0004122", + "HP:0010935", + "CHEBI:33304", + "UBERON:0013702", + "HP:0010930", + "UBERON:0013701", + "UBERON:0001285", + "HP:0012599", + "HP:0010929", + "UPHENO:0051898", + "PR:000000001", + "UPHENO:0034199", + "UBERON:0006555", + "GO:0055080", + "CHEBI:36914", + "CHEBI:36586", + "CHEBI:33521", + "UPHENO:0052116", + "CHEBI:24835", + "UPHENO:0051930", + "CHEBI:33559", + "UPHENO:0081547", + "CHEBI:25414", + "UPHENO:0068247", + "GO:0055067", + "CHEBI:26217", + "UPHENO:0034438", + "UPHENO:0051958", + "CHEBI:25213", + "HP:0003648", + "HP:0001941", + "UPHENO:0051804", + "CHEBI:29103", + "CHEBI:33296", + "HP:0000002", + "HP:0033354", + "UBERON:0000061", + "CHEBI:36916", + "UPHENO:0079822", + "UPHENO:0051668", + "CHEBI:33579", + "UPHENO:0080659", + "UPHENO:0051645", + "HP:0003126", + "UPHENO:0002832", + "UPHENO:0002803", + "HP:0002748", + "UPHENO:0051191", + "CHEBI:33917", + "HP:0011038", + "HP:0034359", + "UBERON:0000383", + "UPHENO:0051635", + "CHEBI:33674", + "UPHENO:0068058", + "CHEBI:50860" + ], + "has_phenotype_closure_label": [ + "Renal insufficiency", + "non-functional kidney", + "non-functional anatomical entity", + "amide", + "abnormal independent continuant protein polypeptide chain level", + "Abnormal urine protein level", + "increased level of protein polypeptide chain in urine", + "carboxamide", + "increased level of protein polypeptide chain in independent continuant", + "Low-molecular-weight proteinuria", + "peptide", + "decreased size of the anatomical entity in the independent continuant", + "delayed growth", + "Growth delay", + "abnormal anatomical entity morphology in the independent continuant", + "growth", "decreased height of the multicellular organism", - "abnormality of multicellular organism height", "Abnormality of body height", - "Abnormality of connective tissue", - "abnormality of musculoskeletal system physiology", - "3-D shape anatomical entity", - "concave 3-D shape anatomical entity", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm", - "Neoplasm by anatomical site", - "Abnormal eyelid morphology", - "Abnormal heart morphology", - "Hypopigmented macule", - "Abnormal cardiac septum morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal heart morphology", - "abnormal cardiac septum morphology", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "Internal hemorrhage", - "abnormal vasculature", - "Bone marrow hypocellularity", - "Flexion contracture", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", - "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", - "abnormal primary metabolic process", + "Growth abnormality", + "Organic aciduria", + "increased level of organic acid in independent continuant", + "hydroxides", + "organic molecule", + "increased level of organic acid in urine", + "increased level of amino acid in urine", + "carbonyl compound", + "carboxylic acid", + "abnormal urine amino acid level", + "increased level of nitrogen molecular entity in independent continuant", + "molecule", + "Elevated urinary carboxylic acid", + "amino acid", + "increased level of carboxylic acid in independent continuant", + "abnormal size of anatomical entity", + "abnormal amino acid level", + "increased level of protein", + "nitrogen molecular entity", + "protein", + "Abnormal circulating enzyme concentration or activity", + "organic amino compound", + "alkaline phosphatase, tissue-nonspecific isozyme", + "macromolecule", + "organooxygen compound", + "heteroorganic entity", + "increased level of organic molecular entity in independent continuant", + "Abnormal urine metabolite level", + "aldohexose", + "hexose", + "abnormal independent continuant glucose level", + "aldose", + "glucose", + "Hypophosphatemia", + "monoatomic ion", + "abnormal monoatomic ion homeostasis", "Abnormality of metabolism/homeostasis", - "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "Abnormality of the orbital region", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "abnormal cardiovascular system", - "delayed growth", - "delayed biological_process", - "Growth delay", - "decreased embryo development", - "abnormal embryo development", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "Abnormality of joint mobility", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "Abnormal ventricular septum morphology", - "decreased size of the anatomical entity in the independent continuant", + "abnormal role blood level", "decreased size of the anatomical entity", + "blood", + "inorganic ion", + "abnormal homeostatic process", + "decreased muscle organ strength", + "main body axis", + "polypeptide", + "Abnormality of bone mineral density", + "anatomical structure", + "anatomical conduit", + "abnormal renal absorption", + "abdominal segment of trunk", + "musculature of body", + "monoatomic cation", + "Abnormality of the upper urinary tract", + "increased independent continuant base level", + "muscle organ", + "anatomical entity dysfunction in independent continuant", + "rac-lactic acid", + "abnormality of anatomical entity height", + "metal atom", + "abnormal blood potassium atom level", + "increased level of rac-lactic acid in urine", + "organic oxo compound", + "excreta", + "abnormal acid bodily fluid level", + "monoatomic monocation", + "chemical substance", + "Aciduria", + "Abnormality of the urinary system", + "abnormal independent continuant potassium atom level", + "phosphate ion homeostasis", + "racemate", + "increased level of chemical entity in urine", + "increased level of chemical entity in bodily fluid", + "abnormal chemical homeostasis", + "decreased anatomical entity strength", + "mixture", + "epithelial tube", + "heteroatomic molecular entity", + "increased level of rac-lactic acid in independent continuant", + "skeletal element", + "cavitated compound organ", + "delayed biological_process", + "oxoacid", + "Osteomalacia", + "potassium atom", + "increased level of amino acid in independent continuant", + "Abnormality of the musculature", + "increased level of carboxylic acid in urine", + "Abnormal urine phosphate concentration", + "abnormal role urine level", + "abnormal chemical entity level", + "abnormal renal system", + "process", + "increased bodily fluid acid level", + "abnormal blood monoatomic ion level", + "Metabolic acidosis", + "All", + "material entity", + "Acidosis", + "organic acid", + "Abnormal circulating metabolite concentration", + "ossification", + "Phenotypic abnormality", + "information biomacromolecule", + "Glycosuria", + "Abnormal bone ossification", + "abdominal segment element", + "Hyperphosphaturia", + "abnormal anatomical entity mass density", + "abnormal alkaline phosphatase, tissue-nonspecific isozyme level", + "epithelium", + "Abnormal urine pH", + "increased level of chemical entity in independent continuant", + "abnormality of anatomical entity physiology", + "abnormally decreased functionality of the nephron tubule", + "Abnormal bone structure", + "anatomical system", + "potassium(1+)", + "abnormal independent continuant carbohydrate level", + "Abnormality of acid-base homeostasis", + "tube", + "potassium molecular entity", + "homeostatic process", + "Abnormal enzyme concentration or activity", + "Abnormal muscle physiology", + "Abnormal homeostasis", + "organochalcogen compound", + "abnormal anatomical entity", + "renal system", + "phenotype", + "hydrogen molecular entity", + "nephron tubule", + "subdivision of trunk", + "abnormal phenotype by ontology source", + "decreased level of potassium atom in blood", + "abnormal independent continuant phosphate level", + "Abnormality of the skeletal system", + "abnormal monoatomic cation homeostasis", + "abnormal independent continuant carboxylic acid level", + "abnormal hematopoietic system", + "decreased level of potassium atom in independent continuant", + "abnormal independent continuant nitrogen molecular entity level", + "Lacticaciduria", + "alkali metal molecular entity", + "entity", + "abnormal urine glucose level", + "decreased size of the multicellular organism", + "Decreased bone element mass density", + "increased level of monosaccharide in independent continuant", + "increased level of monosaccharide in urine", + "Abnormal blood ion concentration", + "Decreased anatomical entity mass density", + "decreased level of chemical entity in independent continuant", + "increased level of alkaline phosphatase, tissue-nonspecific isozyme", + "main group element atom", + "skeletal system", + "Abnormality of the genitourinary system", + "phosphoric acid derivative", + "abnormality of renal system physiology", + "quality", + "Reduced bone mineral density", + "inorganic ion homeostasis", + "genitourinary system", + "atom", + "renal tubule", + "abnormal bone element mass density", + "decreased role independent continuant level", + "Muscle weakness", + "organ part", + "abnormal musculature", + "abnormal skeletal system", + "increased level of phosphate in independent continuant", + "abnormal potassium atom level", + "abnormal renal system process", + "multicellular anatomical structure", + "pnictogen molecular entity", + "obsolete monovalent inorganic cation homeostasis", + "protein polypeptide chain", + "continuant", + "nephron", + "amino acid chain", + "tissue", + "abnormal urine chemical entity level", + "monoatomic ion homeostasis", "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face morphology", - "abnormal face", - "Abnormal facial shape", - "Pancytopenia", - "increased anatomical entity length in independent continuant", - "abnormally decreased number of platelet", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal platelet", - "abnormal blood cell morphology", - "Abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "abnormal platelet morphology", - "abnormal bone marrow cell morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal response to stress", - "decreased developmental process", - "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", - "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal testis morphology", - "abnormal eyelid morphology", - "Abnormal internal genitalia", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "Azoospermia", - "Abnormality of the male genitalia", - "abnormal multicellular organismal reproductive process", - "Generalized abnormality of skin", - "abnormal internal genitalia", - "Abnormality of cardiovascular system morphology", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormal upper limb bone morphology", - "Abnormal ocular adnexa morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "abnormal ocular adnexa morphology", - "Absent forearm bone", - "absent forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "Epicanthus", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of the cell cycle", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "2-D shape anatomical entity", - "Abnormality of limb bone morphology", - "Joint contracture", - "Abnormality of limbs", - "decreased multicellular organism mass", - "Vertebral wedging", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "cuneate vertebra", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", + "abnormal metabolite independent continuant level", + "abnormal genitourinary system", + "Aminoaciduria", + "organ system subdivision", + "abnormal size of multicellular organism", + "bone element", + "abnormal growth", + "independent continuant", + "abnormality of muscle organ physiology", + "urine", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "occurrent", + "organ", + "chemical homeostasis", + "increased independent continuant acid level", + "chemical entity", + "Abnormality of alkaline phosphatase level", + "increased independent continuant role level", + "molecular entity", "Abnormality of blood and blood-forming tissues", - "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", + "organism substance", + "abnormal biological_process", + "abnormal role bodily fluid level", + "primary amide", + "elemental molecular entity", + "phosphorus oxoacid derivative", + "decreased level of phosphate in blood", + "phenotype by ontology source", + "decreased level of chemical entity in blood", + "inorganic cation", + "increased level of chemical entity", + "renal absorption", + "carbon group molecular entity", + "metabolic process", + "material anatomical entity", + "muscle structure", + "Abnormality of the urinary system physiology", + "monoatomic entity", + "abnormal acid independent continuant level", + "abnormal blood chemical entity level", + "bodily fluid", + "abnormal urine phosphate level", + "Abnormal skeletal morphology", + "decreased level of phosphate in independent continuant", + "polyatomic entity", + "ion", + "phosphorus molecular entity", + "trunk", + "excretory system", + "abnormal independent continuant monoatomic ion level", + "increased bodily fluid role level", + "biological_process", + "carbohydrate", + "multicellular organismal process", + "abnormal blood phosphate level", + "abnormal protein level", "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "Thrombocytopenia", - "abnormal developmental process involved in reproduction", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "increased length of the anatomical entity", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormally localised anatomical entity in independent continuant", - "Abnormal tendon morphology", - "abnormally decreased functionality of the gonad", - "abnormal cardiac ventricle morphology in the heart", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "changed embryo development rate", - "Intrauterine growth retardation", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "Abnormality of the ocular adnexa", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", - "abnormal erythroid lineage cell morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "increased length of the epicanthal fold", - "shape anatomical entity in independent continuant", - "abnormal renal system", - "abnormal cardiac ventricle morphology", - "abnormal vertebral column morphology", - "Triangular face", - "abnormal anatomical entity topology in independent continuant", + "abnormal phosphate ion homeostasis", + "abdomen element", + "Proteinuria", "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", - "phenotype by ontology source", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal tendon morphology", - "abnormal growth", - "abnormal leukocyte morphology", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormal opening of the anatomical entity", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "abnormal radius bone morphology", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", - "Chromosomal breakage induced by crosslinking agents", - "abnormal vertebra morphology", - "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormality of skull size", - "Hematological neoplasm", - "Abnormality of the hand", - "abnormal incomplete closing of the interventricular septum", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", - "entity", - "2-D shape anatomical entity in independent continuant", - "Finger aplasia", - "continuant", - "shape vertebra", - "Abnormality of brain morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal immune system", - "Abnormal vertebral morphology", + "protein-containing material entity", + "Elevated circulating alkaline phosphatase concentration", + "abnormality of kidney physiology", + "main group molecular entity", + "biomacromolecule", + "p-block molecular entity", + "haemolymphatic fluid", + "Renal tubular dysfunction", + "phosphorus oxoacids and derivatives", + "Abnormal blood phosphate concentration", + "kidney epithelium", + "compound organ", "Short stature", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", + "inorganic molecular entity", "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "Abnormality of the musculature", - "abnormal development of anatomical entity", - "abnormal digit", - "Microphthalmia", - "abnormal skeletal system", - "Abnormal joint physiology", - "Irregular hyperpigmentation", - "abnormal connective tissue", - "abnormal limb bone morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal cardiovascular system morphology", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "absent germ cell", - "changed biological_process rate", - "increased biological_process in skin of body", - "decreased length of tendon", - "abnormal biological_process in independent continuant", - "abnormal vertebral column", - "abnormal shape of vertebra", - "triangular anatomical entity in independent continuant", - "abnormal musculature", - "abnormal nervous system", - "cuneate anatomical entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Anterior wedging of T12", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "Abnormal granulocyte count", - "triangular anatomical entity", - "shape anatomical entity", - "Abnormal form of the vertebral bodies", - "Abnormality of thrombocytes", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal anatomical entity morphology in the brain", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormal morphology of the radius", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", - "Morphological central nervous system abnormality", - "Abnormality of skin pigmentation", - "Aplasia involving forearm bones", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal cell morphology", - "abnormal nervous system morphology", - "abnormal anatomical entity morphology in the heart", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of chromosome stability", + "carbohydrates and carbohydrate derivatives", + "Abnormality of urine homeostasis", + "upper urinary tract", + "kidney", + "nephron epithelium", + "uriniferous tubule", + "musculoskeletal system", + "abnormal upper urinary tract", + "organism subdivision", + "hematopoietic system", + "multicellular organism", + "Impaired renal tubular reabsorption of phosphate", + "excretory tube", + "lateral structure", + "trunk region element", + "Abnormality of the kidney", + "abdomen", + "subdivision of organism along main body axis", + "chalcogen molecular entity", + "Abnormal renal physiology", "abnormal kidney", - "abnormal central nervous system morphology", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "Abnormality of the head", - "abnormal bone marrow cell", - "Anemia", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal cardiac ventricle morphology in the independent continuant", - "abnormal biological_process", - "abnormal bony vertebral centrum morphology", - "abnormal integument", - "Abnormality of the vertebral column", - "Macule", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormal cardiac ventricle morphology", - "Cafe-au-lait spot", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal interventricular septum morphology", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Ventricular septal defect", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "Abnormal musculoskeletal physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Hypogonadism", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal orbital region", - "Growth abnormality", - "Abnormal localization of kidney", - "Pallor", - "absent kidney in the independent continuant", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Absent radius", - "Aplasia/Hypoplasia of the radius", - "absent radius bone in the forelimb", - "absent anatomical entity in the skeletal system", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "increased qualitatively biological_process", - "All", - "Aplasia involving bones of the extremities", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone" + "increased level of glucose in urine", + "body proper", + "mesoderm-derived structure", + "Abnormal urinary electrolyte concentration", + "oxoacid derivative", + "increased level of phosphate in urine", + "Abnormal blood cation concentration", + "abnormal blood potassium(1+) level", + "musculature", + "decreased role blood level", + "monovalent inorganic cation", + "abnormal role independent continuant level", + "metal cation", + "monoatomic cation homeostasis", + "cation", + "alkali metal atom", + "carbon oxoacid", + "Abnormal blood potassium concentration", + "abnormal multicellular organism chemical entity level", + "phosphate", + "alkali metal cation", + "s-block element atom", + "s-block molecular entity", + "Hypokalemia", + "Abnormal blood monovalent inorganic cation concentration", + "organonitrogen compound", + "abnormal independent continuant potassium(1+) level", + "elemental potassium", + "hemolymphoid system", + "Rickets", + "abnormality of multicellular organism height", + "Abnormal urine carboxylic acid level", + "abnormal phosphate level", + "decreased level of chemical entity", + "system process", + "abnormal independent continuant amino acid level", + "renal system process", + "anatomical entity", + "Abnormal renal tubular resorption", + "abnormal independent continuant chemical entity level", + "Abnormality of renal excretion", + "increased level of glucose in independent continuant", + "monosaccharide", + "organic molecular entity", + "oxygen molecular entity" ], - "has_phenotype_count": 38, + "has_phenotype_count": 16, "highlight": null, "score": null }, { - "id": "MONDO:0010953", - "category": "biolink:Disease", - "name": "Fanconi anemia complementation group E", + "id": "HP:0001994", + "category": "biolink:PhenotypicFeature", + "name": "Renal Fanconi syndrome", "full_name": null, "deprecated": null, - "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.", + "description": "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.", "xref": [ - "DOID:0111084", - "GARD:15324", - "NCIT:C125709", - "OMIM:600901", - "UMLS:C3160739" + "MSH:D005198", + "SNOMEDCT_US:236468006", + "SNOMEDCT_US:44673006", + "UMLS:C0341703" + ], + "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": [], + "has_phenotype_label": [], + "has_phenotype_closure": [], + "has_phenotype_closure_label": [], + "has_phenotype_count": 0, + "highlight": null, + "score": null + }, + { + "id": "MONDO:0013566", + "category": "biolink:Disease", + "name": "Fanconi anemia complementation group L", + "full_name": null, + "deprecated": null, + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", + "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "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" + "FANCL", + "FANCL Fanconi anaemia", + "FANCL Fanconi anemia", + "Fanconi Anemia, complementation Group 50", + "Fanconi Anemia, complementation group type 50", + "Fanconi anaemia caused by mutation in FANCL", + "Fanconi anaemia complementation group type L", + "Fanconi anemia caused by mutation in FANCL", + "Fanconi anemia complementation group L", + "Fanconi anemia complementation group type L", + "Fanconi anemia, complementation group L" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0000086", - "HP:0001875", + "HP:0007018", + "HP:0008551", + "HP:0040012", + "HP:0000582", + "HP:0000470", "HP:0009777", - "HP:0001249", - "HP:0000252", - "HP:0001627", + "HP:0004590", + "HP:0002575", + "HP:0000238", + "HP:0000369", + "HP:0000465", "HP:0000957", - "HP:0000815", - "HP:0000104", - "HP:0001017", - "HP:0001876", - "HP:0000028", + "HP:0002023", + "HP:0001510", + "HP:0000316", + "HP:0001776", + "HP:0000347", "HP:0003974", - "HP:0001873", - "HP:0009778", - "HP:0001896", - "HP:0000568", - "HP:0001518", + "HP:0001511", + "HP:0009892", + "HP:0000151", "HP:0001263", "HP:0003221", - "HP:0009943", - "HP:0000978", - "HP:0000953", + "HP:0002032", + "HP:0011968", + "HP:0001321", + "HP:0000175", + "HP:0000054", + "HP:0000437", "HP:0001903", - "HP:0001909", - "HP:0000081", - "HP:0004322", - "HP:0000486", - "HP:0000365", - "HP:0003214", - "HP:0003213", - "HP:0000085" + "HP:0000122", + "HP:0002188", + "HP:0000568", + "HP:0000431", + "HP:0005528", + "HP:0000089" ], "has_phenotype_label": [ - "Ectopic kidney", - "Neutropenia", + "Attention deficit hyperactivity disorder", + "Microtia", + "Chromosome breakage", + "Upslanted palpebral fissure", + "Short neck", "Absent thumb", - "Intellectual disability", - "Microcephaly", - "Abnormal heart morphology", + "Hypoplastic sacrum", + "Tracheoesophageal fistula", + "Hydrocephalus", + "Low-set ears", + "Webbed neck", "Cafe-au-lait spot", - "Hypergonadotropic hypogonadism", - "Renal agenesis", - "Anemic pallor", - "Pancytopenia", - "Cryptorchidism", + "Anal atresia", + "Growth delay", + "Hypertelorism", + "Bilateral talipes equinovarus", + "Micrognathia", "Absent radius", - "Thrombocytopenia", - "Short thumb", - "Reticulocytopenia", - "Microphthalmia", - "Small for gestational age", + "Intrauterine growth retardation", + "Anotia", + "Aplasia of the uterus", "Global developmental delay", "Chromosomal breakage induced by crosslinking agents", - "Complete duplication of thumb phalanx", - "Bruising susceptibility", - "Hyperpigmentation of the skin", + "Esophageal atresia", + "Feeding difficulties", + "Cerebellar hypoplasia", + "Cleft palate", + "Micropenis", + "Depressed nasal tip", "Anemia", - "Leukemia", - "Duplicated collecting system", - "Short stature", - "Strabismus", - "Hearing impairment", - "Prolonged G2 phase of cell cycle", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "Horseshoe kidney" + "Unilateral renal agenesis", + "Delayed CNS myelination", + "Microphthalmia", + "Wide nasal bridge", + "Bone marrow hypocellularity", + "Renal hypoplasia" ], "has_phenotype_closure": [ - "UPHENO:0082129", - "UPHENO:0041821", - "UPHENO:0049964", - "HP:0003254", - "UPHENO:0049671", - 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"UPHENO:0050113", - "HP:0000104", - "UPHENO:0088176", - "HP:0001903", - "HP:0001877", - "HP:0000980", - "HP:0000953", - "UPHENO:0088162", - "HP:0012130", - "UPHENO:0087339", - "HP:0011873", - "UPHENO:0086049", - "UPHENO:0085302", - "UPHENO:0049985", - "UPHENO:0085354", - "UPHENO:0066927", - "UPHENO:0078729", - "UPHENO:0026128", - "HP:0000119", - "HP:0000152", - "UPHENO:0005016", - "UPHENO:0005651" - ], - "has_phenotype_closure_label": [ - "3-D shape anatomical entity", - "shape anatomical entity in independent continuant", - "concave 3-D shape anatomical entity", - "Deficient excision of UV-induced pyrimidine dimers in DNA", - "abnormal cellular response to stress", - "Abnormality of the ear", - "abnormality of ear physiology", - "decreased qualitatively sensory perception of mechanical stimulus", - "Hearing abnormality", - "Hearing impairment", - "Atypical behavior", - "abnormal behavior process", - "Abnormal conjugate eye movement", - "Abnormal eye physiology", - "abnormal behavior", - "decreased size of the multicellular organism", - "delayed biological_process", - "Growth delay", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", - "Abnormality of body height", - "abnormal renal collecting system", - "abnormality of anatomical entity height", - "Duplicated collecting system", - "Abnormal renal collecting system morphology", - "Neoplasm", - "Neoplasm by anatomical site", - "Vascular skin abnormality", - "Abnormal cardiovascular system physiology", - "3-D shape anatomical entity in independent continuant", - "Bruising susceptibility", - "abnormal blood circulation", - "Subcutaneous hemorrhage", - "Internal hemorrhage", - "abnormal vasculature", - "Duplication of bones involving the upper extremities", - "shape kidney", - "Duplication of phalanx of hand", - "Duplication of thumb phalanx", - "Abnormal long bone morphology", - "abnormal phalanx morphology", - "Duplication of hand bones", - "Complete duplication of thumb phalanx", - "Abnormality of thumb phalanx", - "abnormal nitrogen compound metabolic process", - "abnormal organelle organization", - "abnormal chromatin organization", - "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal cellular process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal primary metabolic process", - "Abnormality of metabolism/homeostasis", - "Neurodevelopmental delay", - "abnormality of anatomical entity mass", - "Abnormality of body weight", - "Decreased anatomical entity mass", - "Small for gestational age", - "decreased multicellular organism mass", - "abnormality of multicellular organism mass", - "Decreased multicellular organism mass", - "decreased height of the anatomical entity", - "Abnormality of the face", - "abnormal face morphology", - "U-shaped anatomical entity", - "Abnormal eye morphology", - "Abnormality of the orbital region", - "abnormal face", - "Abnormal reticulocyte morphology", - "abnormal number of anatomical enitites of type reticulocyte", - "decreased length of manual digit 1", - "decreased length of anatomical entity in independent continuant", - "Short digit", - "decreased length of digit", - "Short finger", - "decreased length of manual digit", - "decreased size of the anatomical entity in the independent continuant", - "decreased size of the anatomical entity", - "Abnormal upper limb bone morphology", - "abnormal forelimb zeugopod bone", - "absent radius bone in the independent continuant", - "absent radius bone", - "Absent forearm bone", - "absent forelimb zeugopod bone", - "Aplasia/hypoplasia involving forearm bones", - "Abnormality of the vasculature", - "aplastic forelimb zeugopod bone", - "decreased anatomical entity mass", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "absent radius bone in the forelimb", - "Abnormality of the cell cycle", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Aplasia/Hypoplasia of the radius", - "abnormal radius bone morphology", - "Absent radius", - "abnormal response to stress", - "decreased developmental process", + "UBERON:0010364", + "UBERON:0019231", + "UBERON:0011159", + "GO:0071704", + "GO:0042552", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0006333", + "UBERON:0005178", + "GO:0007610", + "UPHENO:0020584", + "UBERON:0005174", + "HP:0006503", + "UBERON:0002104", + "HP:5200045", + "UPHENO:0002433", + "UPHENO:0006910", + "HP:0040064", + "UPHENO:0080111", + "UBERON:0002097", + "UBERON:0000020", + "HP:0012210", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0079826", + "UPHENO:0068971", + "UPHENO:0008668", + "HP:0000089", + "UBERON:0001444", + "UPHENO:0018390", + "HP:0000077", + "UBERON:0002199", 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"UPHENO:0056072", + "UBERON:0011249", + "UPHENO:0001001", + "HP:0002817", + "UBERON:0013765", + "UPHENO:0085068", + "UBERON:0004708", + "UBERON:0004120", + "UBERON:0015061", + "UPHENO:0002833", + "UBERON:0003129", + "HP:0000309", + "UBERON:0004375", + "UPHENO:0076695", + "UPHENO:0075182", + "HP:0009122", + "HP:0008517", + "UBERON:0006314", + "UBERON:0005177", + "UPHENO:0081436", + "UPHENO:0081328", + "UBERON:0005173", + "HP:0005107", + "UBERON:0002398", + "UBERON:0009569", + "UPHENO:0083951", + "UPHENO:0087374", + "UPHENO:0088170", + "UBERON:0010740", + "UPHENO:0081792", + "UPHENO:0049990", + "UPHENO:0020659", + "HP:0012243", + "HP:0008518", + "HP:0008678", + "GO:0006996", + "UBERON:0005179", + "UBERON:0003828", + "UBERON:0003463", + "GO:0060255", + "UBERON:0006075", + "UPHENO:0076735", + "UBERON:0000463", + "UBERON:0004247", + "UBERON:0000117", + "UBERON:0001005", + "HP:0000464", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0005944", + "UPHENO:0003020", + "HP:0005607", + "HP:0002575", + "HP:0000315", + "UBERON:0001004", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0005409", + "HP:0009777", + "UBERON:0004921", + "UPHENO:0080662", + "UPHENO:0069523", + "UPHENO:0002725", + "HP:0011793", + "UBERON:0003126", + "UPHENO:0086700", + "UPHENO:0020748", + "UPHENO:0025945", + "UBERON:0006048", + "UPHENO:0021304", + "HP:0001574", + "UBERON:0001558", + "HP:0012718", + "UPHENO:0076766", + "UPHENO:0080300", + "UPHENO:0009382", + "UPHENO:0088047", + "UPHENO:0081786", + "UBERON:0010913", + "UBERON:0001043", + "UBERON:0007811", + "HP:0012252", + "HP:0025031", + "UBERON:0000072", + "UPHENO:0084448", + "UBERON:0001245", + "UBERON:0012140", + "UBERON:0005473", + "UBERON:0000065", + "UBERON:0001710", + "UBERON:0013522", + "UPHENO:0021517", + "UPHENO:0081784", + "UPHENO:0000543", + "UPHENO:0075696", + "UBERON:0004908", + "UPHENO:0056212", + "UBERON:0001270", + "UBERON:0005281", + "UBERON:0000154", + "UBERON:0002616", + "UPHENO:0002964", + "UBERON:0001032", + "UPHENO:0026181", + "HP:0012443", + "UPHENO:0005597", + "UBERON:0005282", + "UPHENO:0069391", + "UBERON:0001017", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "UBERON:0000993", + "UBERON:0002102", + "UPHENO:0003811", + "HP:0000153", + "UBERON:0001359", + "HP:0000104", + "UPHENO:0082875", + "HP:0011355", + "UBERON:0000475", + "UPHENO:0076702", + "UPHENO:0088185", + "HP:0011458", + "HP:0002818", + "HP:0000277", + "HP:0002813", + "GO:0071840", + "HP:0002921", + "UPHENO:0081091", + "UPHENO:0080165", + "UPHENO:0025211", + "UPHENO:0087548", + "UBERON:0000061", + "UBERON:0035639", + "GO:1901360", + "UPHENO:0056333", + "UBERON:0002544", + "UBERON:0007779", + "UPHENO:0049367", + "HP:0000369", + "HP:0000118", + "UBERON:0000978", + "HP:0000465", + "HP:0000050", + "UPHENO:0054970", + "UPHENO:0026954", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "BFO:0000001", + "UPHENO:0002635", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0001034", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "UPHENO:0080087", + "HP:0012733", + "UPHENO:0078606", + "HP:0006265", + "HP:0002023", + "HP:0009380", + "UPHENO:0074228", + "GO:0006807", + "UPHENO:0002839", + "HP:0004378", + "HP:0003319", + "UPHENO:0046505", + "UPHENO:0086644", + "UPHENO:0087339", + "HP:0034915", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "UPHENO:0080158", + "UPHENO:0080196", + "UPHENO:0063599", + "UBERON:0010222", + "UPHENO:0087816", + "HP:0001762", + "OBI:0100026", + "UPHENO:0001072", + "UBERON:0000466", + "HP:0011400", + "HP:0012372", + "HP:0000478", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0010230", + "UPHENO:0002598", + "HP:0100886", + "HP:0005656", + "HP:0001776", + "HP:0000925", + "UBERON:0008784", + "UBERON:0010709", + "UPHENO:0072195", + "HP:0002814", + "HP:0006496", + "UPHENO:0050008", + "UPHENO:0003070", + "UPHENO:0081575", + "HP:0011821", + "HP:0009118" + ], + "has_phenotype_closure_label": [ + "decreased size of the kidney", + "bone marrow", + "bone cell", + "abnormal immune system", + "Abnormality of bone marrow cell morphology", + "tissue", + "Bone marrow hypocellularity", + "abnormal immune system morphology", + "snout", + "increased width of the anatomical entity in independent continuant", + "abnormal nasal bridge morphology", + "abnormal snout morphology", + "increased width of nasal bridge", + "increased width of anatomical entity", + "Abnormality of globe size", + "Aplasia/Hypoplasia affecting the eye", + "delayed central nervous system myelination", + "abnormal biological_process in central nervous system", + "Abnormal myelination", + "central nervous system myelination", + "decreased size of the eyeball of camera-type eye", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal hematopoietic system morphology", + "system development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "cellular developmental process", + "nervous system development", + "glial cell differentiation", + "abnormal central nervous system myelination in independent continuant", + "absent kidney", + "abnormal kidney morphology", + "Abnormality of the upper urinary tract", + "Abnormality of the kidney", + "excretory system", + "abnormal upper urinary tract", + "abdomen element", + "cavitated compound organ", + "absent anatomical entity in the renal system", + "abnormal renal system", + "renal system", + "oxygen accumulating cell", + "hematopoietic cell", + "abnormal myeloid cell morphology", + "hematopoietic system", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "abnormal cell morphology", + "abnormal erythrocyte morphology", + "abnormal hematopoietic system", + "flat nose tip", + "Abnormal nasal tip morphology", + "olfactory organ", + "abnormal size of eyeball of camera-type eye", + "nose tip", + "nose", + "abnormal nose morphology", + "Abnormality of the nose", + "flattened anatomical entity in independent continuant", + "Abnormal external nose morphology", + "curvature anatomical entity", + "decreased size of the external male genitalia", + "Abnormal external genitalia", + "external male genitalia", + "male reproductive system", "Abnormality of male external genitalia", - "Abnormal male reproductive system physiology", - "abnormal reproductive process", - "abnormal anatomical entity morphology in the skeleton of manus", + "Hypoplasia of penis", + "Abnormal renal morphology", + "abnormal external genitalia", + "abnormal penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "abnormal male reproductive system morphology", + "Craniofacial cleft", + "Abnormal oral cavity morphology", + "anatomical cavity", + "abnormal roof of mouth morphology", + "Orofacial cleft", + "abnormal oral cavity morphology", + "abnormal incomplete closing of the secondary palate", + "abnormal midface morphology", + "Eumetazoa", + "hindbrain", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "cerebellum hypoplasia", + "segmental subdivision of nervous system", + "regional part of brain", "abnormal external male genitalia", - "decreased qualitatively reproductive process", - "abnormal male reproductive organ morphology", - "abnormal cellular component organization", - "decreased qualitatively biological_process", - "decreased length of anatomical entity", - "absent sperm in the semen", - "abnormal number of anatomical enitites of type sperm", - "abnormal spermatogenesis", - "absent sperm in the independent continuant", - "abnormality of internal male genitalia physiology", - "Decreased body weight", - "decreased qualitatively developmental process", - "absent gamete", - "abnormality of camera-type eye physiology", - "Reticulocytopenia", - "abnormal gamete", + "abnormal anatomical entity morphology in the brain", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "root", + "Abnormal midface morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "abnormal metencephalon morphology", + "abnormality of digestive system physiology", + "Feeding difficulties", + "Esophageal atresia", + "esophagus atresia", + "Chromosomal breakage induced by crosslinking agents", + "Neurodevelopmental abnormality", + "abnormal female reproductive system", + "abnormal kidney", + "abnormal reproductive system", + "internal genitalia", + "oviduct", + "erythrocyte", + "subdivision of oviduct", + "Wide nasal bridge", + "abnormal internal female genitalia morphology", + "female organism", + "bone marrow cell", + "internal female genitalia", + "genitourinary system", + "abnormal uterus", + "aplasia or hypoplasia of uterus", + "reproductive structure", + "Abnormal morphology of female internal genitalia", + "Aplasia of the uterus", + "female reproductive system", + "Abdominal symptom", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "Abnormality of the uterus", + "aplasia or hypoplasia of eyeball of camera-type eye", + "uterus", + "abnormal biological_process in nervous system", + "absent anatomical entity in the ear", + "Anotia", + "absent anatomical entity in the head", + "absent external ear in the head", + "absent external ear", + "abnormal embryo development", + "Intrauterine growth retardation", + "abnormal secondary palate morphology", "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal external genitalia", - "Cryptorchidism", - "abnormally localised testis", + "decreased developmental process", + "Hypoplastic male external genitalia", + "anatomical structure development", + "multicellular organism development", + "decreased embryo development", + "abnormal genitourinary system", "changed developmental process rate", - "abnormal male reproductive system morphology", - "abnormal manual digit morphology in the independent continuant", - "Strabismus", - "absent kidney", - "absent anatomical entity in the independent continuant", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal axial skeleton morphology", - "aplasia or hypoplasia of manual digit", - "Abnormal erythroid lineage cell morphology", - "absent anatomical entity in the multicellular organism", - "Puberty and gonadal disorders", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal number of anatomical enitites of type granulocyte", - "Abnormality of limb bone", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "absent anatomical entity", - "abnormal sensory perception", - "abnormal manus", - "abnormal eye movement", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "Abnormal neutrophil count", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "agenesis of anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "Functional abnormality of male internal genitalia", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormal leukocyte morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "U-shaped kidney", - "abnormally decreased number of myeloid cell in the independent continuant", - "Abnormal cellular physiology", - "abnormality of nervous system physiology", - "abnormally decreased number of anatomical entity in the independent continuant", - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormal digit morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "abnormal number of anatomical enitites of type leukocyte", - "Abnormality of blood and blood-forming tissues", - "Aplasia/Hypoplasia of the thumb", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "absent anatomical entity in the forelimb", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormal bleeding", - "Renal hypoplasia/aplasia", - "Abnormality of the musculoskeletal system", - "abnormally decreased number of myeloid cell", - "Complete duplication of phalanx of hand", - "abnormally decreased number of granulocyte in the independent continuant", - "Abnormal appendicular skeleton morphology", - "abnormal developmental process involved in reproduction", - "Thrombocytopenia", - "Abnormality of the immune system", - "abnormally localised anatomical entity", - "decreased spermatogenesis", - "abnormal kidney morphology", - "Abnormality of the genital system", - "abnormal arm", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "abnormal myeloid leukocyte morphology", - "Abnormal leukocyte count", - "abnormal multicellular organismal reproductive process", - "Abnormality of eye movement", - "Abnormality of the urinary system", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "abnormal blood cell morphology", - "abnormally localised anatomical entity in independent continuant", - "abnormally decreased functionality of the gonad", - "Abnormal cell morphology", - "phenotype", - "absent digit", - "abnormally localised kidney", - "abnormal number of anatomical enitites of type neutrophil", - "abnormal nervous system", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal limb", - "Abnormality of the eye", - "abnormal upper urinary tract", - "abnormal eyeball of camera-type eye", - "Abnormality of the kidney", - "Short thumb", - "abnormal manual digit 1 morphology", - "absent anatomical entity in the limb", - "abnormally decreased number of neutrophil", - "shape anatomical entity", - "Abnormal granulocyte count", - "Abnormality of the skeletal system", - "Abnormal ear physiology", - "Abnormal myeloid cell morphology", - "abnormal forebrain morphology", - "abnormal DNA metabolic process", - "abnormal manual digit morphology in the manus", - "Aplasia/Hypoplasia of fingers", - "abnormal response to stimulus", - "abnormal skull morphology", - "abnormal shape of continuant", + "changed embryo development rate", + "decreased qualitatively developmental process", + "arm bone", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", + "Aplasia involving bones of the upper limbs", "abnormal erythroid lineage cell morphology", - "Abnormal platelet morphology", - "abnormal genitourinary system", - "Abnormality of the upper urinary tract", - "abnormal renal system", - "abnormal anatomical entity topology in independent continuant", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "quality", - "phenotype by ontology source", - "Abnormality of the male genitalia", - "abnormal renal system morphology", - "decreased sensory perception of sound", - "abnormal skin of body morphology", - "abnormal growth", - "abnormal leukocyte morphology", + "Abnormal morphology of the radius", + "limb long bone", + "absent radius bone in the forelimb", + "abnormal limb long bone morphology", + "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "Abnormality of the female genitalia", + "abnormal forelimb zeugopod morphology", + "zeugopod", + "Aplasia/hypoplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "Aplasia/Hypoplasia of the cerebellum", + "forelimb zeugopod", + "abnormal forelimb zeugopod bone", + "Aplasia/Hypoplasia of the radius", + "embryo development", + "abnormal radius bone morphology", "Aplasia involving bones of the extremities", - "increased qualitatively biological_process", - "All", - "abnormal granulocyte morphology", - "abnormal size of multicellular organism", - "abnormally decreased number of leukocyte", + "Micrognathia", + "abnormal jaw skeleton morphology", + "flat anatomical entity in independent continuant", + "mouth", + "abnormal mandible morphology", + "dermal bone", + "jaw skeleton", + "facial skeleton", + "mandible", + "immune system", + "facial bone", + "Hypoplastic facial bones", + "abnormal mouth", "abnormal hematopoietic cell morphology", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormal thumb morphology", - "abnormally decreased number of hematopoietic cell", - "Abnormal finger phalanx morphology", - "aplastic manual digit 1", - "abnormal size of eyeball of camera-type eye", - "abnormally decreased number of granulocyte", - "abnormal anatomical entity morphology in the appendage girdle complex", + "primary subdivision of cranial skeletal system", + "primary subdivision of skull", + "cranial skeletal system", + "facial bone hypoplasia", + "Abnormality of the genital system", + "intramembranous bone", + "abnormal facial skeleton morphology", + "abnormal nose", + "Aplasia/Hypoplasia of the mandible", + "Abnormal appendicular skeleton morphology", + "Cleft palate", + "behavior", + "abnormal manus morphology", + "pectoral appendage skeleton", + "delayed biological_process in independent continuant", + "digitopodium region", + "abnormal arm", + "skeletal element", + "system", + "decreased length of neck", + "cervical vertebra endochondral element", + "postcranial axial skeleton", + "bone of dorsum", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "bone element", + "dorsum", + "cervical region", + "organ system subdivision", + "Abnormality of the anus", + "paired limb/fin skeleton", + "vertebral column", + "Abnormality of the eye", + "abnormal pes morphology", + "decreased length of anatomical entity in independent continuant", + "Abnormality of the musculoskeletal system", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "cervical vertebra", + "membrane bone", + "abnormal cervical vertebra", + "dentary", + "appendage", + "abnormal vertebral column", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "skeletal system", + "Abnormality of the vertebral column", + "Macule", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Abnormal eyelid morphology", + "skeleton", + "abnormal camera-type eye morphology", + "Abnormality of skin morphology", + "Abnormality of limbs", + "paired limb/fin segment", + "orbital region", + "abnormal anatomical entity morphology in the manus", + "abnormal size of kidney", + "Renal hypoplasia/aplasia", + "trunk or cervical vertebra", + "upper jaw region", + "Abnormality of the ocular adnexa", + "simple eye", + "cellular metabolic process", + "Atypical behavior", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal orbital region", + "ensheathment of neurons", + "regulation of cellular process", + "ocular adnexa", + "camera-type eye", + "abnormal face", + "acropodium region", + "absent anatomical entity in the skeletal system", + "Abnormal cellular physiology", + "abnormality of nervous system physiology", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "Renal agenesis", + "abnormal respiratory system", + "secondary palate", + "organism", + "irregular bone", + "Chromosome breakage", + "abnormal chromatin organization", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "absent external ear in the independent continuant", + "regulation of cellular biosynthetic process", + "proximo-distal subdivision of respiratory tract", + "subdivision of skeleton", + "endochondral bone", + "Abnormality of the ear", + "eyelid", + "decreased size of the penis", + "Abnormality of the lower limb", + "Growth abnormality", + "axial skeletal system", + "palpebral fissure", + "Abnormal ocular adnexa morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormal anus morphology", + "Abnormality of the face", + "manual digit 1", + "autopodial extension", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "negative regulation of biological process", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "midface", + "abnormal cellular component organization", + "abnormal trachea morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "abnormal programmed DNA elimination by chromosome breakage", + "specifically dependent continuant", + "nasal bridge", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "sensory system", + "abnormal nervous system", + "manual digit", + "Abnormal eye morphology", + "abnormal head morphology", + "Abnormal forearm morphology", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "Abnormal skeletal morphology", + "forelimb", + "material anatomical entity", + "abnormal metabolic process", + "Depressed nasal tip", + "Abnormality of mental function", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "abnormal eyelid morphology", + "manus", + "Abnormality of digestive system morphology", + "radius endochondral element", + "abnormal behavior", "Abnormal cellular phenotype", - "Ectopic kidney", - "Abnormal immune system morphology", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of anatomical entity", - "abnormal erythrocyte morphology", - "Abnormality of DNA repair", - "abnormally decreased number of cell", - "abnormal cell", - "Abnormal testis morphology", - "abnormal neutrophil", - "Abnormality of the skin", - "Neutropenia", - "abnormally decreased number of cell in the independent continuant", - "Abnormal morphology of the radius", - "abnormal gamete generation", - "Abnormality of neutrophils", - "Abnormality of skull size", - "Hematological neoplasm", + "roof of mouth", + "Abnormality of the orbital region", + "DNA metabolic process", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "thoracic cavity element", + "Abnormal neck morphology", + "negative regulation of gene expression", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multi organ part structure", + "increased length of the anatomical line between pupils", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "abnormal shape of external ear", + "Reduced attention regulation", + "abnormal limb bone morphology", + "posterior region of body", + "chromatin organization", + "organ part", + "decreased size of the external ear", + "Anemia", + "radius bone", "Abnormality of the hand", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "aplasia or hypoplasia of manual digit 1", - "Leukemia", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "Abnormal tracheobronchial morphology", + "biological_process", + "absent kidney in the independent continuant", + "subdivision of skeletal system", "entity", - "abnormally decreased number of leukocyte in the independent continuant", - "Finger aplasia", - "continuant", - "Azoospermia", - "Abnormality of brain morphology", - "Abnormal forearm morphology", + "Hyperactivity", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "craniocervical region", + "neck", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "response to stimulus", + "Abnormality of the immune system", + "Abnormal nervous system physiology", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "female reproductive organ", + "long bone", + "negative regulation of biosynthetic process", + "material entity", + "pelvic region element", + "abnormal ocular adnexa", + "abnormal location of ear", + "sense organ", + "abnormal limb bone", + "Abnormal nervous system morphology", + "limb", + "increased size of the anatomical entity", "abnormal anatomical entity", - "abnormal immune system", - "Short stature", + "abnormal external nose morphology", + "absent radius bone in the independent continuant", + "neck bone", + "entire sense organ system", + "continuant", + "organic cyclic compound metabolic process", + "segment of autopod", + "anatomical line between pupils", + "independent continuant", + "pelvic complex", + "abnormal growth", + "abnormal DNA metabolic process", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "behavior process", + "decreased size of the mandible", + "absent manual digit", + "subdivision of vertebral column", + "Abnormality of the gastrointestinal tract", + "Talipes", + "Webbed neck", + "quality", + "aplasia or hypoplasia of ear", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "Finger aplasia", + "Reduced impulse control", + "abnormal location of external ear", + "forelimb zeugopod bone", + "nervous system", + "process", + "nucleic acid metabolic process", + "Abnormal myeloid cell morphology", + "leg", + "endochondral element", + "abnormal neck", + "abnormal brain ventricle morphology", + "ear", + "anatomical entity hypoplasia in face", + "Abnormal ear morphology", + "aplasia or hypoplasia of skeleton", + "pelvic region of trunk", + "macromolecule metabolic process", + "dermal skeletal element", + "subdivision of organism along main body axis", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "Microtia", + "Renal hypoplasia", + "bone of lower jaw", + "mandible hypoplasia", + "glial cell development", + "anatomical space", + "Abnormal hindbrain morphology", + "phenotype", + "aplasia or hypoplasia of external ear", + "pes", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "non-connected functional system", + "abnormal size of anatomical entity", + "kidney hypoplasia", + "abnormal craniocervical region morphology", + "Abnormality of the outer ear", + "multi-tissue structure", + "bodily fluid", + "Attention deficit hyperactivity disorder", + "abnormal leg", "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "abnormal central nervous system myelination", + "organ subunit", + "negative regulation of cellular biosynthetic process", + "Eukaryota", + "negative regulation of cellular metabolic process", + "Abnormality of the neck", + "abnormal external male genitalia morphology", + "abnormal vertebral column morphology", + "absent digit", + "abnormal head bone morphology", + "dorsal part of neck", + "Abnormal pinna morphology", + "external ear", + "Aplasia/Hypoplasia of the ear", + "Abnormality of the skeletal system", + "trachea", + "curvature anatomical entity in independent continuant", + "abnormal limb", + "negative regulation of cellular process", + "Abnormality of head or neck", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "regulation of biological process", + "lateral structure", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "absent uterus", + "ectoderm-derived structure", + "Slanting of the palpebral fissure", + "abnormal cellular process", + "forelimb bone", + "anatomical entity hypoplasia", + "head", + "anterior region of body", + "aplastic anatomical entity", + "main body axis", + "abnormal ear morphology", + "cellular organisms", + "Decreased anatomical entity position", + "abnormal opening of the anatomical entity", + "dorsal region element", + "abnormal primary metabolic process", + "body proper", + "organism subdivision", + "shape anatomical entity", + "ventricular system of brain", + "anatomical entity hypoplasia in independent continuant", + "decreased size of the anatomical entity in the independent continuant", + "protein-DNA complex organization", + "vestibulo-auditory system", + "axon ensheathment in central nervous system", + "eye", + "compound organ", + "cellular process", + "Abnormal digit morphology", + "negative regulation of macromolecule biosynthetic process", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal face morphology", + "Abnormal nasal bridge morphology", + "erythroid lineage cell", + "non-material anatomical boundary", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "cellular component organization", + "abnormal anatomical entity morphology in the appendage girdle complex", + "pigmentation", + "neurogenesis", + "regulation of biosynthetic process", + "absent anatomical entity in the independent continuant", + "lower jaw region", + "abnormal digit", + "thoracic segment of trunk", + "Abnormality of metabolism/homeostasis", + "visual system", + "aplastic manual digit 1", + "Abnormal sacrum morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormality of the male genitalia", + "Abnormal respiratory system morphology", + "cervical region of vertebral column", + "manual digitopodium region", + "absent anatomical entity in the reproductive system", + "abnormal number of anatomical enitites of type anatomical entity", + "anatomical conduit", + "abnormal limb morphology", + "paired limb/fin", + "mesoderm-derived structure", + "developmental process", + "abdominal segment bone", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "autopod region", + "Unilateral renal agenesis", + "Abnormal cerebellum morphology", + "upper limb segment", + "appendicular skeleton", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", "Aplasia/hypoplasia of the extremities", - "abnormally decreased functionality of the anatomical entity", - "abnormal manus morphology", - "abnormal digit", - "Microphthalmia", + "Aplasia/Hypoplasia of the thumb", + "cell differentiation", + "appendicular skeletal system", + "abdomen", + "manual digit 1 plus metapodial segment", + "trunk bone", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "arm", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal palate morphology", + "skeleton of pectoral complex", + "forelimb skeleton", + "absent anatomical entity in the limb", + "Abnormal mandible morphology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "abnormal development of anatomical entity", + "subdivision of trunk", + "Abnormal thumb morphology", + "dermatocranium", + "pectoral complex", + "digit", + "abnormal female reproductive system morphology", "abnormal skeletal system", - "Irregular hyperpigmentation", - "abnormal limb bone morphology", - "abnormal testis morphology", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Abnormal nervous system physiology", - "Prolonged G2 phase of cell cycle", - "abnormal cell cycle", - "abnormality of anatomical entity physiology", - "Abnormality of globe size", - "Non-obstructive azoospermia", - "Intellectual disability", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "Abnormal cerebral morphology", - "Neurodevelopmental abnormality", - "Abnormal heart morphology", - "abnormal male reproductive system", - "Cognitive impairment", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal anatomical entity morphology in the brain", - "abnormal limb bone", - "Abnormal nervous system morphology", - "abnormal size of skull", - "Abnormal internal genitalia", - "Decreased head circumference", - "aplasia or hypoplasia of telencephalon", - "abnormal telencephalon morphology", - "abnormal DNA damage response", - "abnormal head morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Aplasia involving forearm bones", + "digit 1 plus metapodial segment", + "Upslanted palpebral fissure", + "manual digit plus metapodial segment", + "multi-limb segment region", + "agenesis of anatomical entity", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "external soft tissue zone", + "digit plus metapodial segment", + "abnormally increased number of brain ventricle in the independent continuant", + "dermal skeleton", + "aplasia or hypoplasia of manual digit 1", + "Abnormality of digestive system physiology", + "absent anatomical entity", + "Absent forearm bone", + "abnormal manual digit 1 morphology", + "skeleton of lower jaw", + "abnormal digit morphology", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "Abnormal facial skeleton morphology", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "Delayed myelination", "Abnormality of skin pigmentation", - "Abnormal skull morphology", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Aplasia/Hypoplasia of the cerebrum", + "shape nose tip", + "Abnormality of globe location", + "limb bone", + "cell development", + "skeleton of manus", + "Hypertelorism", + "bone element hypoplasia in independent continuant", + "abnormal penis morphology", + "hindlimb", + "aplasia or hypoplasia of fused sacrum", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Hypoplastic sacrum", + "abnormal fused sacrum morphology", + "Aplasia/Hypoplasia of the sacrum", + "bony pelvis", + "Delayed CNS myelination", + "fused sacrum", + "fused sacrum hypoplasia", + "skull", + "limb skeleton subdivision", + "Aplasia/Hypoplasia involving the vertebral column", + "reproductive system", + "sacral region", + "Global developmental delay", + "biological regulation", + "abdominal segment of trunk", + "Short attention span", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "abnormal internal genitalia", + "aplasia or hypoplasia of vertebral column", + "abnormal craniocervical region", + "sacral region of vertebral column", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormal female reproductive organ morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "Aplasia/Hypoplasia of the external ear", + "trunk region element", + "endoderm-derived structure", + "pelvic appendage", + "respiratory tube", + "abnormal nose tip morphology", + "alimentary part of gastrointestinal system atresia", + "respiratory tract", + "forelimb endochondral element", + "primary metabolic process", + "Abnormality of the skin", + "abnormal alimentary part of gastrointestinal system", + "abnormal pigmentation in independent continuant", + "abnormal respiratory tube morphology", + "subdivision of tube", + "Abnormality of the cervical spine", + "abnormal digestive system", + "central nervous system development", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "digestive tract", + "oral cavity", + "Morphological abnormality of the gastrointestinal tract", + "Neoplasm", + "Tracheoesophageal fistula", + "abnormal esophagus morphology", + "pectoral appendage", + "regulation of gene expression", + "respiratory system", + "programmed DNA elimination", + "obsolete cell", + "digestive system", + "penis", + "digestive system element", + "kidney", + "abnormal biological_process", + "Growth delay", + "respiratory airway", + "tube", + "subdivision of digestive tract", + "delayed biological_process", + "Abnormal tracheal morphology", + "thoracic segment organ", + "vertebral element", + "viscus", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Abnormal esophagus morphology", + "Abnormality of the respiratory system", + "abnormal tracheobronchial tree morphology", + "abnormal forelimb morphology", + "abnormal digestive system morphology", + "abnormal bone marrow morphology", + "flat anatomical entity", + "lower respiratory tract", + "myelination", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "bone of craniocervical region", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Microphthalmia", + "abnormal external ear morphology", + "Positional foot deformity", + "abnormal brain morphology", + "organism substance", + "ventricular system of central nervous system", + "external ear hypoplasia", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "abnormal anus morphology", + "organ component layer", "Morphological central nervous system abnormality", - "Abnormal myeloid leukocyte morphology", - "abnormal head", - "Abnormality of head or neck", - "abnormal reproductive system", - "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal cell morphology", + "Abnormal cell morphology", + "lower limb segment", + "Hydrocephalus", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "Abnormality of limb bone", + "central nervous system", + "anatomical point", + "ventricle of nervous system", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", "abnormal nervous system morphology", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Abnormality of chromosome stability", - "abnormal kidney", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", "abnormal central nervous system morphology", + "transudate", + "Cafe-au-lait spot", + "increased length of the anatomical entity", + "cerebrospinal fluid", + "organic substance metabolic process", "Abnormality of the head", - "abnormal phalanx of manus morphology", - "Abnormality of mental function", - "abnormal cardiovascular system morphology", - "Hyperpigmentation of the skin", - "abnormal heart morphology", - "delayed growth", - "abnormal cardiovascular system", - "Abnormality of the integument", - "Abnormality of bone marrow cell morphology", - "abnormal skin of body", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "abnormal cellular metabolic process", - "abnormal bone of pectoral complex morphology", - "Abnormality of cardiovascular system morphology", - "decreased size of the eyeball of camera-type eye", - "abnormal camera-type eye morphology", - "Abnormality of skin morphology", - "increased pigmentation in skin of body", - "abnormal biological_process", - "abnormal integument", - "Macule", - "increased pigmentation in independent continuant", - "increased pigmentation", "abnormal pigmentation", - "increased qualitatively biological_process in independent continuant", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Localized skin lesion", - "abnormal platelet", - "Cafe-au-lait spot", + "abnormal anatomical entity topology in independent continuant", + "Gastrointestinal atresia", "abnormal location of anatomical entity", - "abnormal bone marrow morphology", - "Hypermelanotic macule", - "Aplasia/hypoplasia involving bones of the upper limbs", - "absent kidney in the renal system", - "increased biological_process in independent continuant", - "Abnormal forearm bone morphology", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "Microcephaly", - "changed biological_process rate in independent continuant", - "Abnormality of blood circulation", - "abnormally decreased number of reticulocyte", - "abnormal endocrine system", - "Abnormality of the endocrine system", - "Pancytopenia", - "abnormal enucleated reticulocyte morphology", - "Abnormal finger morphology", - "Hypergonadotropic hypogonadism", - "Abnormality of reproductive system physiology", - "abnormal craniocervical region morphology", - "anatomical entity dysfunction in independent continuant", - "Horseshoe kidney", - "absent sperm", - "abnormality of reproductive system physiology", - "Hypogonadism", - "absent kidney in the independent continuant", - "Growth abnormality", - "abnormal orbital region", - "Abnormal localization of kidney", - "Pallor", - "abnormal DNA repair", - "decreased qualitatively sensory perception of sound", - "abnormality of cardiovascular system physiology", - "Abnormality of the upper limb", - "absent anatomical entity in the renal system", - "abnormal hematopoietic system", - "Renal agenesis", - "Anemic pallor", - "aplasia or hypoplasia of radius bone", - "Abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "abnormal bone marrow cell morphology", - "abnormal platelet morphology", - "abnormal sensory perception of sound", - "Abnormal platelet count", - "Anemia", - "abnormal bone marrow cell", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "Abnormality of thrombocytes", - "Generalized abnormality of skin", - "abnormal internal genitalia", + "Decreased external ear position", + "external nose", "changed biological_process rate", "increased biological_process in skin of body", - "absent germ cell" + "abnormal external ear", + "increased biological_process", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the integument", + "Neurodevelopmental delay", + "abnormal skin of body", + "integumental system", + "integument", + "abnormal anatomical entity morphology", + "increased pigmentation", + "changed biological_process rate in independent continuant", + "abnormal integument", + "brain ventricle", + "eyeball of camera-type eye", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "abnormal hindlimb morphology", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "reproductive organ", + "abnormal skull morphology", + "abnormal palpebral fissure", + "anus atresia", + "Abnormal CNS myelination", + "immaterial anatomical entity", + "penis hypoplasia", + "limb endochondral element", + "Anal atresia", + "abnormal response to stimulus", + "abnormal closing of the anatomical entity", + "abnormal anus", + "delayed growth", + "abnormal location of eyeball of camera-type eye", + "increased anatomical entity length in independent continuant", + "abnormal eyeball of camera-type eye", + "anatomical line", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal foot morphology", + "Talipes equinovarus", + "Aplasia/hypoplasia of the uterus", + "Hyperpigmentation of the skin", + "Bilateral talipes equinovarus", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "flattened anatomical entity", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Low-set ears", + "Abnormal jaw morphology", + "abnormal head", + "jaw region", + "cell", + "Abnormality of the mouth", + "anus", + "Abnormal skull morphology", + "blood cell", + "Abnormality of the genitourinary system", + "head bone" ], - "has_phenotype_count": 32, + "has_phenotype_count": 36, "highlight": null, "score": null }, { - "id": "MONDO:0013248", + "id": "MONDO:0014638", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group O", + "name": "Fanconi anemia complementation group T", "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", "OMIM:613390", "UMLS:C3150653"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.", + "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], "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" + "FANCT", + "Fanconi Anemia, complementation group type T", + "Fanconi anaemia caused by mutation in UBE2T", + "Fanconi anaemia complementation group type T", + "Fanconi anemia caused by mutation in UBE2T", + "Fanconi anemia complementation group type T", + "Fanconi anemia, complementation group T", + "UBE2T Fanconi anaemia", + "UBE2T Fanconi anemia" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0009777", - "HP:0001627", - "HP:0002023", - "HP:0002984", - "HP:0000126", - "HP:0000028", + "HP:0004808", + "HP:0001876", + "HP:0001873", "HP:0009778", - "HP:0009623", - "HP:0000107", - "HP:0003241", + "HP:0005528", + "HP:0009942", + "HP:0001903", + "HP:0003221", "HP:0004322", - "HP:0001245", - "HP:0003774", - "HP:0025023" + "HP:0000365", + "HP:0010628" ], "has_phenotype_label": [ - "Chromosome breakage", - "Absent thumb", - "Abnormal heart morphology", - "Anal atresia", - "Hypoplasia of the radius", - "Hydronephrosis", - "Cryptorchidism", + "Acute myeloid leukemia", + "Pancytopenia", + "Thrombocytopenia", "Short thumb", - "Proximal placement of thumb", - "Renal cyst", - "External genital hypoplasia", + "Bone marrow hypocellularity", + "Duplication of thumb phalanx", + "Anemia", + "Chromosomal breakage induced by crosslinking agents", "Short stature", - "Small thenar eminence", - "Stage 5 chronic kidney disease", - "Rectal atresia" + "Hearing impairment", + "Facial palsy" ], "has_phenotype_closure": [ - "HP:0012732", - "HP:0002034", - "UPHENO:0087346", - "UPHENO:0002714", - "UPHENO:0076773", - "UPHENO:0076783", - "HP:0012718", - "UPHENO:0076735", - "HP:0002589", - "UPHENO:0002725", - "HP:0011100", - "HP:0025023", - "UPHENO:0063629", - "HP:0002250", - "HP:0011024", - "HP:0012211", - "HP:0011277", - "HP:0003774", - "UPHENO:0002411", - "UPHENO:0088142", - "UPHENO:0002655", - "UPHENO:0002442", - "UPHENO:0081433", - "UPHENO:0081341", - "HP:0009127", - "HP:0003011", - "UPHENO:0063632", - "HP:0001227", - "HP:0001421", - "UPHENO:0049874", - "UPHENO:0069254", - "UPHENO:0000543", - "HP:0009826", - "UPHENO:0086132", - "UPHENO:0075195", - "UPHENO:0087510", - "UPHENO:0081313", - "UPHENO:0087501", - "UPHENO:0086172", - "HP:0009115", - "UPHENO:0076803", - "HP:0025031", + "UBERON:0004473", + "UBERON:0000010", + "UBERON:0002376", + "HP:0012638", + "HP:0001291", + "UPHENO:0076772", + "UBERON:0001577", + "UPHENO:0076702", + "UPHENO:0002908", + "UBERON:0015789", + "UPHENO:0080556", + "UPHENO:0076722", + "UPHENO:0002910", + "UPHENO:0087907", + "UBERON:0001021", + "UBERON:0005162", + "HP:0001324", + "UPHENO:0076710", + "HP:0410008", + "UBERON:0000122", + "UPHENO:0004523", + "UPHENO:0081709", + "UPHENO:0078730", + "HP:0011799", + "UPHENO:0080555", + "UBERON:0014892", + "UBERON:0001785", + "UBERON:0000383", + "UBERON:0034713", + "UPHENO:0002816", + "UPHENO:0003587", + "UPHENO:0086589", + "UBERON:0004456", + "GO:0050877", + "UBERON:0002105", + "HP:0000234", + "UPHENO:0002764", + "GO:0050954", + "UPHENO:0050620", + "UPHENO:0002332", + "UBERON:0000033", + "UBERON:0001032", + "UPHENO:0005518", + "HP:0000152", + "UBERON:0007811", + "UBERON:0000020", + "GO:0007600", + "HP:0011804", + "GO:0032501", + "UPHENO:0052970", + "UBERON:0001016", + "UPHENO:0080377", "HP:0001510", - "UPHENO:0086201", - "HP:0000811", - "UPHENO:0074228", - "UPHENO:0001005", - "UPHENO:0002597", - "HP:0011793", - "UPHENO:0076776", - "HP:0006503", - "UPHENO:0063599", - "UPHENO:0063565", - "HP:0011017", - "UPHENO:0002839", - "BFO:0000002", - "UPHENO:0053298", - "HP:0004322", - "UPHENO:0002833", - "UPHENO:0080099", - "HP:0030680", + "UPHENO:0000543", + "UPHENO:0069254", + "HP:0000759", + "UPHENO:0049874", + "HP:0000002", + "UBERON:0001456", + "UPHENO:0000541", + "UPHENO:0080351", + "HP:0001507", + "HP:0003220", + "GO:0050794", + "GO:0007605", + "GO:0019222", + "GO:0043170", + "GO:0006139", + "GO:0006725", + "GO:0016043", + "GO:0010629", + "BFO:0000015", + "UPHENO:0050021", + "UPHENO:0050121", + "HP:0000598", + "GO:0010468", + "GO:0031327", + "GO:0031326", + "UPHENO:0052231", + "GO:0009890", + "UPHENO:0002320", + "GO:0031324", + "HP:0003221", + "UPHENO:0049990", + "HP:0000365", + "GO:0005623", + "GO:0031049", + "UBERON:0013701", + "GO:0050789", + "UBERON:0001015", + "GO:0071840", + "GO:0008150", + "UPHENO:0049748", + "GO:0031052", + "GO:0060255", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "GO:0008152", + "GO:0009987", + "UPHENO:0050116", + "GO:0006996", + "HP:0001939", + "UPHENO:0050113", + "HP:0012130", + "UPHENO:0088162", + "UPHENO:0081700", + "UBERON:0015025", + "HP:0009381", + "UBERON:0003606", + "UBERON:0005451", + "UPHENO:0086633", + "UBERON:0002371", + "UBERON:0010708", + "UBERON:0012354", + "HP:0010827", + "HP:0000271", + "CL:0000329", + "UPHENO:0002905", + "CL:0001035", + "CL:0000151", + "UPHENO:0076740", + "GO:0090304", + "UPHENO:0015280", + "GO:0071704", + "CL:0000219", + "UBERON:0006058", + "HP:0025461", + "HP:0006265", + "UBERON:0034923", "UPHENO:0020584", - "HP:0002813", + "UBERON:0002091", + "UBERON:0001436", "UPHENO:0046411", - "UPHENO:0080351", - "UPHENO:0002964", - "UPHENO:0005016", - "HP:0000119", - "HP:0005773", - "HP:0001155", - "UPHENO:0077426", - "UPHENO:0084771", + "UBERON:0013702", + "HP:0002813", + "UPHENO:0076675", + "GO:1901360", + "UPHENO:0002830", + "UBERON:0004249", + "UPHENO:0011498", + "HP:0040012", + "UPHENO:0086005", + "UBERON:0004765", + "UBERON:0000467", "HP:0005922", - "UPHENO:0008668", - "UPHENO:0018390", - "UPHENO:0084766", - "UPHENO:0021561", - "HP:0009821", - "HP:0025354", - "UPHENO:0080126", - "UPHENO:0076810", - "HP:0011844", + "UBERON:0001647", + "HP:0000924", + "HP:0010987", + "UPHENO:0063722", + "HP:0001872", + "UPHENO:0085068", + "UBERON:5001463", + "GO:0034641", + "HP:0011893", + "CL:0002092", + "HP:0020047", + "UBERON:0012140", + "CL:0000764", + "CL:0000458", + "CL:0000763", + "UBERON:0002204", + "HP:0030319", + "UPHENO:0020041", + "HP:0001873", + "UPHENO:0084987", + "UPHENO:0075195", + "UPHENO:0086173", + "GO:0006807", + "UPHENO:0006910", + "UBERON:0004288", + "UPHENO:0085144", + "UPHENO:0087355", + "UPHENO:0082875", + "GO:0006259", + "UBERON:0001474", + "UBERON:0002398", + "HP:0010628", + "UPHENO:0085195", + "UPHENO:0087369", + "UBERON:0012475", + "HP:0001881", + "UPHENO:0085344", + "UPHENO:0001005", + "HP:0000707", + "UPHENO:0005116", + "UPHENO:0086172", + "HP:0009115", + "GO:0010605", + "GO:0009892", "UPHENO:0080079", - "HP:0009601", - "HP:0001507", - "UPHENO:0076703", - "UPHENO:0005433", - "UPHENO:0080114", - "UPHENO:0008523", - "UPHENO:0006910", - "UPHENO:0002649", - "UPHENO:0084761", - "HP:0003026", - "HP:0009824", - "UPHENO:0084448", - "UPHENO:0086700", - "UPHENO:0081204", - "HP:0001245", - "HP:0004378", - "HP:0000001", - "UPHENO:0002896", - "UPHENO:0084829", - "HP:0001939", - "UPHENO:0001003", - "UPHENO:0012274", - "UPHENO:0086644", - "HP:0011314", - "UPHENO:0050121", - "UPHENO:0085875", - "HP:0009603", - "UPHENO:0046538", + "HP:0011844", + "UPHENO:0087501", + "BFO:0000004", + "UBERON:0015024", + "UPHENO:0002964", + "UBERON:0002101", + "UBERON:0010707", "HP:0001167", "HP:0040064", - "UPHENO:0076779", - "UPHENO:0050116", - "UPHENO:0049367", - "UPHENO:0068971", - "UPHENO:0078452", - "UPHENO:0001002", - "UPHENO:0080362", + "HP:0012639", + "HP:0000364", + "BFO:0000002", + "UBERON:0006048", + "CL:0000000", + "HP:0001871", + "UBERON:0001444", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0002470", + "PATO:0000001", + "UBERON:0011249", + "GO:0065007", + "HP:0009602", + "UPHENO:0085070", + "HP:0011873", + "CL:0000232", + "UPHENO:0087339", + "HP:0011805", + "HP:0002488", + "UPHENO:0078606", + "HP:0002664", + "UPHENO:0076724", + "UBERON:0000061", + "UPHENO:0087123", + "HP:0001909", + "UBERON:0015063", + "UBERON:0010959", + "UBERON:0008229", + "UBERON:0000465", + "CL:0000988", + "UPHENO:0050845", + "HP:0004377", + "UPHENO:0081423", + "UBERON:0015203", + "BFO:0000040", + "HP:0001877", + "UBERON:0001463", + "UBERON:0005090", + "UBERON:0000468", "HP:0011297", - "HP:0001626", - "HP:0003220", - "UPHENO:0011498", - "UPHENO:0015280", - "UPHENO:0046540", - "UPHENO:0076740", - "UPHENO:0050113", - "HP:0034058", - "UPHENO:0086128", - "UPHENO:0049587", - "HP:0006501", - "UPHENO:0002708", - "HP:0000032", - "UPHENO:0087547", + "HP:0004275", + "HP:0003011", + "HP:0002715", + "CL:0000081", + "HP:0000118", + "CL:0002242", + "HP:0032251", + "UPHENO:0002433", + "CL:0000233", + "UPHENO:0031839", + "UBERON:0010000", + "UBERON:0002390", + "HP:0011793", + "HP:0004808", + "UPHENO:0002948", + "UBERON:0002544", + "UBERON:5102389", + "HP:0012145", + "UBERON:0002102", + "UPHENO:0085302", + "GO:0044238", + "UPHENO:0088170", "UPHENO:0001001", - "HP:0001197", - "UPHENO:0050021", - "HP:0045060", - "HP:0034915", - "UPHENO:0002830", - "UPHENO:0086682", - "HP:0025033", - "UPHENO:0050845", + "UPHENO:0076703", "BFO:0000020", - "UPHENO:0081466", - "HP:0040012", - "HP:0000028", - "UPHENO:0049748", - "UPHENO:0076723", - "UPHENO:0002647", - "UPHENO:0049873", - "HP:0000083", - "UPHENO:0026506", - "HP:0000027", - "UPHENO:0049700", - "HP:0005927", - "HP:0002817", - "HP:0002984", - "UPHENO:0002536", + "UBERON:0010314", + "UBERON:0001062", + "HP:0025354", + "UPHENO:0085371", + "HP:0045010", + "CL:0000457", + "UPHENO:0001002", + "HP:0045060", + "GO:0071824", + "UPHENO:0021800", "UPHENO:0076692", + "HP:0001876", + "UPHENO:0002536", + "UPHENO:0088166", + "BFO:0000001", + "HP:0009778", + "HP:0006496", + "UBERON:0001434", + "UBERON:0000479", + "UBERON:5006048", + "CL:0000255", + "GO:0010558", + "UBERON:0008785", + "UPHENO:0004508", + "UBERON:0002193", + "HP:0009142", + "UBERON:0000062", + "UPHENO:0002903", + "HP:0011875", + "UBERON:0011779", + "UPHENO:0077426", + "UPHENO:0087006", + "UPHENO:0085984", + "UPHENO:0075159", + "UPHENO:0002880", + "UBERON:0015212", + "GO:0046483", + "UPHENO:0084766", + "UPHENO:0086049", + "UBERON:5002389", + "GO:0010556", + "PR:000050567", + "UBERON:0010538", + "UBERON:0004710", + "UPHENO:0084448", + "GO:0044237", + "UBERON:0010363", + "UPHENO:0002844", + "UPHENO:0049587", + "UBERON:0019231", + "HP:0006824", "UPHENO:0080352", - "UPHENO:0026181", - "HP:0003241", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0076727", - "HP:0006265", - "HP:0011425", - "UPHENO:0086635", + "UBERON:0002405", + "UBERON:0000026", + "UBERON:0001630", "HP:0033127", - "UPHENO:0002595", - "UPHENO:0003055", - "HP:0011805", - "HP:0009777", - "UPHENO:0026183", - "HP:0040068", - "HP:0040070", - "UPHENO:0009382", - "UPHENO:0049990", - "UPHENO:0076724", - "HP:0009381", - "UPHENO:0088186", - "HP:0009815", - "HP:0000924", - "UPHENO:0079876", - "UPHENO:0063639", - "UPHENO:0002816", - "UPHENO:0053580", - "HP:0001172", - "HP:0000118", - "HP:0011842", - "UPHENO:0075696", - "UPHENO:0081790", - "UPHENO:0084763", - "UPHENO:0086633", - "UPHENO:0002803", - "UPHENO:0002832", + "UPHENO:0086635", + "UBERON:0012139", + "UPHENO:0012541", + "UPHENO:0046707", + "HP:0009601", + "UPHENO:0084928", + "UBERON:0003607", + "UPHENO:0005433", + "UPHENO:0080114", + "UPHENO:0050625", + "RO:0002577", + "UBERON:0000475", + "UBERON:0012151", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002708", "UPHENO:0046505", - "UPHENO:0031839", - "UPHENO:0080187", - "HP:0000812", - "HP:0040072", - "UPHENO:0081451", - "UPHENO:0087349", - "HP:0000002", - "UPHENO:0020041", - "UPHENO:0086198", - "HP:0002242", - "UPHENO:0076710", - "UPHENO:0081091", - "HP:0002973", - "UPHENO:0085874", - "UPHENO:0069294", - "UPHENO:0052778", - "HP:0011927", - "UPHENO:0076718", - "UPHENO:0075902", + "UBERON:0013700", + "UBERON:0011250", + "UPHENO:0002896", + "UPHENO:0049873", + "UBERON:0003620", + "HP:0005561", + "UBERON:0000153", + "UBERON:5002544", + "UBERON:0010712", "UPHENO:0046624", - "HP:0002023", - "HP:0002818", - "BFO:0000001", - "UPHENO:0002371", - "UPHENO:0086956", - "UPHENO:0002751", + "UPHENO:0076718", + "UPHENO:0076723", + "UPHENO:0080099", + "CL:0000738", + "UBERON:0005881", + "UPHENO:0068971", + "GO:0040007", + "UBERON:0001460", + "UBERON:0003221", + "UPHENO:0084763", + "UBERON:0012358", + "UPHENO:0086045", + "UPHENO:0076727", + "UBERON:0010758", "UPHENO:0079872", - "UPHENO:0012541", - "UPHENO:0002905", - "HP:0000077", - "UPHENO:0049940", - "HP:0010935", - "HP:0010944", - "UPHENO:0001072", - "UPHENO:0005651", - "UPHENO:0084132", - "UPHENO:0084124", - "HP:0008669", - "HP:0012210", - "UPHENO:0065599", - "UPHENO:0026028", - "PATO:0000001", - "UPHENO:0084834", - "HP:0010945", - "UPHENO:0080377", - "HP:0034242", - "UPHENO:0053644", - "UPHENO:0002786", - "UPHENO:0075893", - "HP:0000079", - "UPHENO:0001478", - "UPHENO:0002598", - "UPHENO:0081792", - "HP:0000126", - "UPHENO:0005597", - "UPHENO:0085194", - "HP:0004097", - "HP:0000025", - "UPHENO:0020950", - "HP:0010461", - "HP:0009380", - "UPHENO:0002378", - "HP:0100871", - "UPHENO:0087427", - "UPHENO:0002332", - "HP:0010946", - "UPHENO:0080382", - "HP:0012243", - "UPHENO:0087846", - "UPHENO:0075949", - "HP:0012874", - "UPHENO:0049970", - "UPHENO:0049701", - "UPHENO:0078729", - "UPHENO:0049985", - "UPHENO:0080369", - "UPHENO:0086023", + "UBERON:0007272", + "UPHENO:0004459", + "UBERON:0002428", + "HP:0000001", + "UBERON:0001442", + "UBERON:0019221", + "UBERON:0002389", + "UBERON:0001033", + "UBERON:0001690", + "UBERON:0010740", + "GO:0031323", + "UBERON:0002513", + "UBERON:0002529", + "HP:0000301", + "UPHENO:0080126", + "UBERON:0000075", + "UPHENO:0088186", + "HP:0009815", + "HP:0001155", + "UPHENO:0084761", + "HP:0040068", + "HP:0031704", + "HP:0040070", + "GO:0006325", + "HP:0011927", + "UPHENO:0085118", + "UPHENO:0012274", + "GO:0048519", + "HP:0011314", + "HP:0001172", + "HP:0002817", + "UPHENO:0049700", + "HP:0005927", + "UBERON:0004120", + "UBERON:0010543", + "UPHENO:0086700", + "UBERON:0012357", + "UPHENO:0079876", + "HP:0001903", + "UBERON:0034925", + "UBERON:0004708", + "UPHENO:0002240", "UPHENO:0052178", - "UPHENO:0087802", - "UPHENO:0085873", - "UPHENO:0081755", - "UPHENO:0087006", - "HP:0011961", - "UPHENO:0050101", - "UPHENO:0082875", - "UPHENO:0046707", - "HP:0000080", - "UPHENO:0087973", - "HP:0000035", - "HP:0012622", - "HP:0000078", - "HP:0006496", - "HP:0009778", - "HP:0009623", - "UPHENO:0050108", - "HP:0000107", - "HP:0001446", - "UPHENO:0084841", - "HP:0009484", - "HP:0001627", - "UPHENO:0080325", - "UPHENO:0002642", - "UPHENO:0081423", - "HP:0034057", + "UBERON:0011582", + "CL:0000225", + "UBERON:0010912", + "HP:0004322", + "UBERON:0015061", + "UBERON:0005897", + "UBERON:0004375", + "UPHENO:0001003", + "UBERON:0006717", + "UBERON:0002495", + "HP:0005528", + "GO:0003008", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0081424", - "UPHENO:0002880", - "UPHENO:0075159", - "UPHENO:0000541" + "UBERON:0010741", + "UBERON:0018254", + "UPHENO:0086956", + "HP:0031910", + "UBERON:5101463", + "UBERON:0004381", + "UBERON:0008962", + "BFO:0000003", + "HP:0009942", + "HP:0005918", + "UBERON:0010688", + "UBERON:0004461", + "UBERON:0015021", + "UBERON:5106048", + "UBERON:0011676", + "HP:0009997", + "UBERON:0015023", + "UBERON:0011216", + "UBERON:0012150", + "UPHENO:0085189", + "UBERON:5102544" ], "has_phenotype_closure_label": [ - "Abnormal intestine morphology", - "abnormal alimentary part of gastrointestinal system", - "abnormal rectum", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "Abnormality of the gastrointestinal tract", - "Rectal atresia", - "Anorectal anomaly", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "Morphological abnormality of the gastrointestinal tract", - "rectum atresia", - "alimentary part of gastrointestinal system atresia", - "Chronic kidney disease", - "Renal insufficiency", - "Intestinal atresia", - "non-functional kidney", - "Abnormal renal physiology", - "Abnormality of the urinary system physiology", - "abnormality of kidney physiology", - "Small thenar eminence", - "abnormal musculature of limb", - "Abnormality of the musculature of the upper limbs", - "Abnormal palm morphology", - "Stage 5 chronic kidney disease", - "abnormal musculature of manus", - "Abnormality of the musculature of the hand", + "cranial or facial muscle", + "cranial muscle", + "gustatory system", + "Abnormality of facial soft tissue", + "facial muscle", + "subdivision of head", + "abnormal facial nerve", + "Abnormal cranial nerve physiology", + "nerve", + "multi cell part structure", + "Abnormality of the nervous system", + "decreased muscle organ strength", + "Cranial nerve paralysis", + "Abnormality of the seventh cranial nerve", + "Abnormal cranial nerve morphology", + "musculature of body", + "nervous system", "abnormal musculature", - "Abnormality of the thenar eminence", - "Abnormality of the musculature of the limbs", - "bone element hypoplasia in independent continuant", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal long bone morphology", - "abnormal radius bone morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormal long bone morphology", - "Upper limb undergrowth", - "abnormal renal system", - "Abnormality of the anus", - "abnormally dilated renal pelvis", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormal heart morphology", - "radius bone hypoplasia", - "abnormal spatial pattern of anatomical entity", - "abnormal heart morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal forearm bone morphology", - "absent anatomical entity in the limb", - "Forearm undergrowth", - "decreased size of the anatomical entity", - "Abnormality of the musculature", - "abnormal digit", - "abnormal organelle organization", - "Anal atresia", - "Neoplasm", - "Cryptorchidism", - "abnormal manual digit morphology in the independent continuant", - "anatomical entity hypoplasia", - "aplasia or hypoplasia of skeleton", - "aplasia or hypoplasia of anatomical entity", - "Abnormality of digestive system morphology", - "abnormal limb", - "anus atresia", - "Dilatation of the renal pelvis", - "Abnormality of the kidney", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "decreased length of manual digit 1", - "Abnormal anus morphology", - "abnormally localised anatomical entity", - "abnormal appendicular skeleton morphology", - "abnormal arm", - "absent anatomical entity in the forelimb", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Limb undergrowth", - "agenesis of anatomical entity", - "decreased developmental process", - "All", - "Abnormal upper limb bone morphology", - "intestine atresia", - "Proximal placement of thumb", - "abnormal digit morphology", - "abnormal manus", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal chromatin organization", - "Chromosome breakage", - "increased size of the anatomical entity in independent continuant", - "Aplasia/Hypoplasia of the thumb", - "Renal cyst", + "abnormal nervous system", + "paralysed cranial nerve", + "skeletal muscle organ, vertebrate", + "Abnormal skeletal muscle morphology", + "neuron projection bundle", + "skeletal musculature", + "abnormal peripheral nervous system morphology", + "abnormal craniocervical region morphology", + "cranial neuron projection bundle", + "abnormal nerve", + "abnormal muscle organ morphology", + "Abnormal peripheral nervous system morphology", + "Weakness of facial musculature", + "Muscle weakness", + "nerve of head region", + "decreased anatomical entity strength", + "abnormal head morphology", + "abnormal peripheral nervous system", + "body proper", + "decreased sensory perception of sound", + "Hearing abnormality", + "main body axis", + "subdivision of organism along main body axis", + "sensory perception of mechanical stimulus", + "Abnormality of head or neck", + "nervous system process", + "abnormality of ear physiology", + "Abnormality of the ear", + "musculature", + "Hearing impairment", + "ear", + "sensory perception", + "abnormality of anatomical entity physiology", + "Abnormality of the head", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory system", + "changed biological_process rate", + "delayed growth", + "Abnormality of the face", + "decreased height of the anatomical entity", + "system process", + "abnormality of multicellular organism height", + "Growth delay", + "decreased size of the multicellular organism", + "delayed biological_process", + "growth", + "decreased height of the multicellular organism", + "Abnormality of body height", + "Chromosomal breakage induced by crosslinking agents", + "regulation of macromolecule biosynthetic process", + "negative regulation of biosynthetic process", + "DNA metabolic process", + "protein-DNA complex organization", + "Abnormality of chromosome stability", + "Abnormality of the peripheral nervous system", "decreased qualitatively biological_process", "abnormal cellular component organization", - "abnormality of renal system physiology", - "quality", - "Abnormal renal pelvis morphology", - "decreased length of long bone", - "Abnormality of prenatal development or birth", - "abnormal spermatogenesis", - "phenotype", - "absent digit", - "abnormal male reproductive system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal thenar eminence", - "abnormal nitrogen compound metabolic process", - "abnormal internal genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Aplasia/hypoplasia involving bones of the extremities", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "abnormal facial muscle", + "multicellular organismal process", + "obsolete cellular aromatic compound metabolic process", + "cellular component organization", + "regulation of biological process", + "abnormality of nervous system physiology", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "cellular component organization or biogenesis", + "biological_process", + "abnormal biological_process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "programmed DNA elimination", + "abnormal organelle organization", "abnormal cellular process", - "abnormal palmar part of manus morphology", + "regulation of macromolecule metabolic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "face", "Growth abnormality", + "programmed DNA elimination by chromosome breakage", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "metabolic process", + "Abnormal muscle physiology", "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "abnormal biological_process", - "absent anatomical entity in the multicellular organism", - "abnormal anus morphology", - "Abnormality of metabolism/homeostasis", - "aplastic anatomical entity", - "abnormal autopod region morphology", - "Absent thumb", - "abnormal anatomical entity morphology in the palmar part of manus", - "absent manual digit", - "abnormal phenotype by ontology source", - "deviation of manual digit", - "abnormal muscle organ morphology", - "abnormal developmental process", - "abnormality of male reproductive system physiology", - "Abnormal cellular physiology", - "abnormal manus morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal cell", - "Abnormal rectum morphology", - "Abnormal skeletal muscle morphology", - "Abnormal testis morphology", - "abnormal anus", - "Abnormal digit morphology", - "phenotype by ontology source", - "Abnormal thumb morphology", - "Abnormality of the male genitalia", - "deviation of manual digit 1", - "abnormal limb bone morphology", - "abnormal testis morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "absent anatomical entity", - "decreased length of manual digit", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "abnormal cardiovascular system morphology", - "abnormality of multicellular organism height", - "forelimb zeugopod bone hypoplasia", - "Abnormality of the hand", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormal number of anatomical enitites of type anatomical entity", - "increased size of the anatomical entity", - "abnormal limb bone", - "absent gamete", - "Abnormal finger morphology", - "Aplasia/hypoplasia involving bones of the upper limbs", - "Aplasia/Hypoplasia of fingers", - "Abnormal hand morphology", - "Abnormal spermatogenesis", - "Abnormality of the musculoskeletal system", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal skeletal system morphology", - "Short long bone", - "decreased height of the multicellular organism", - "abnormal limb morphology", + "Abnormal erythrocyte morphology", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "abnormal anatomical entity morphology in the manus", + "manual digitopodium region", "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", + "anatomical entity", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal nervous system morphology", + "sense organ", + "abnormal limb bone", + "craniocervical muscle", + "Abnormality of multiple cell lineages in the bone marrow", + "limb bone", + "Abnormality of the musculature", + "abnormal digit", + "digitopodium region", + "abnormal myeloid cell morphology", + "Aplasia/Hypoplasia of fingers", + "abnormal arm", + "skeleton", + "manual digit bone", + "oxygen accumulating cell", "abnormal forelimb morphology", - "abnormal location of anatomical entity", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "Abnormality of body height", - "abnormal digestive system morphology", - "abnormal musculature of upper limb", - "continuant", - "Azoospermia", - "Finger aplasia", - "abnormal intestine morphology", - "aplastic manual digit 1", - "decreased qualitatively reproductive process", - "anatomical entity hypoplasia in independent continuant", - "abnormally localised testis", - "Abnormal large intestine morphology", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "Abnormality of limb bone", - "Abnormality of cardiovascular system morphology", + "Abnormal leukocyte count", + "Abnormal nervous system physiology", + "abnormal hematopoietic system morphology", + "cellular process", + "Abnormal digit morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet", + "Duplication of bones involving the upper extremities", + "structure with developmental contribution from neural crest", + "long bone", + "abnormal skeletal system", + "abnormal phalanx of manus morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormality of cranial nerve physiology", + "abnormal appendicular skeleton morphology", + "obsolete heterocycle metabolic process", + "erythroid lineage cell", + "forelimb endochondral element", + "multicellular anatomical structure", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "serotonin secreting cell", + "abnormal blood cell morphology", + "negative regulation of gene expression", + "Phenotypic abnormality", + "Abnormal platelet morphology", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormal finger phalanx morphology", + "abnormal bone marrow morphology", + "Abnormality of bone marrow cell morphology", + "abnormal limb bone morphology", + "manus", + "abnormal limb", + "Abnormal cellular immune system morphology", + "decreased length of manual digit 1", + "Neoplasm by anatomical site", + "myeloid cell", + "abnormal nervous system morphology", + "abnormal cell morphology", + "immune system", + "abnormal cranial nerve morphology", + "cellular metabolic process", + "biogenic amine secreting cell", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "decreased length of anatomical entity", "abnormal cellular metabolic process", "abnormal bone of pectoral complex morphology", - "Hydronephrosis", - "decreased length of anatomical entity", - "absent sperm in the semen", - "Deviation of the thumb", - "Abnormal male reproductive system physiology", - "abnormal forelimb zeugopod bone", - "Short forearm", - "delayed biological_process", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal fetal morphology", - "abnormal rectum morphology", + "musculature of face", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "bone marrow", + "acropodium region", + "Pancytopenia", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "occurrent", + "organ", + "anucleate cell", + "phenotype by ontology source", + "abnormally decreased number of hematopoietic cell", + "Abnormal thumb morphology", + "manus bone", + "manual digit plus metapodial segment", "abnormal limb long bone morphology", - "decreased length of forelimb zeugopod bone", - "abnormal forelimb zeugopod morphology", + "digit", + "craniocervical region musculature", + "Abnormality of blood and blood-forming tissues", + "eukaryotic cell", "decreased length of anatomical entity in independent continuant", - "non-functional anatomical entity", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "abnormal gamete", - "Abnormal morphology of the radius", - "abnormal gamete generation", + "skeleton of pectoral complex", + "musculoskeletal system", + "non-connected functional system", + "phenotype", + "Abnormal cell morphology", + "limb endochondral element", + "mesoderm-derived structure", + "facial nerve", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", + "paired limb/fin segment", + "entire sense organ system", + "continuant", + "tissue", + "abnormal hematopoietic cell morphology", + "regulation of biosynthetic process", + "acropodial skeleton", + "abnormal anatomical entity morphology in the independent continuant", + "limb segment", + "abnormal hematopoietic system", + "manual digit 1 plus metapodial segment", + "disconnected anatomical group", + "bone cell", + "Aplasia/Hypoplasia of the thumb", + "abnormally decreased number of platelet", + "phalanx", + "abnormal anatomical entity morphology", + "specifically dependent continuant", + "anatomical structure", + "anatomical system", + "abnormal phenotype by ontology source", + "muscle structure", + "material anatomical entity", + "abnormal sensory perception of sound", + "Abnormal platelet count", + "abnormal platelet morphology", + "nucleate cell", + "Abnormal finger morphology", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal size of anatomical entity", - "abnormal external genitalia", - "abnormal renal system morphology", - "Abnormal fetal genitourinary system morphology", - "External genital hypoplasia", - "abnormally dilated anatomical entity", - "Abnormality of chromosome stability", - "abnormal kidney", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "absent germ cell", - "changed biological_process rate", - "abnormal upper urinary tract", - "Abnormal renal morphology", - "Abnormality of the upper urinary tract", - "abnormal renal pelvis morphology", - "abnormal genitourinary system", - "abnormal renal pelvis", - "Fetal pyelectasis", - "abnormal late embryo", - "Abnormality of the urinary system", - "Abnormality of the genital system", - "increased size of the renal pelvis", - "Fetal ultrasound soft marker", - "abnormal number of anatomical enitites of type cell", - "abnormal multicellular organismal reproductive process", - "abnormal reproductive process", - "Abnormal internal genitalia", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal reproductive system", - "abnormal anatomical entity topology in independent continuant", - "Growth delay", + "Abnormal leukocyte morphology", + "abnormal anatomical entity", + "abnormal immune system", + "skeletal system", + "motile cell", + "Abnormal peripheral nerve morphology by anatomical site", + "Abnormality of facial musculature", + "abnormal growth", + "abnormal leukocyte morphology", + "independent continuant", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "segment of autopod", + "Abnormal upper limb bone morphology", + "material entity", + "abnormal blood cell", + "erythrocyte", + "organ system subdivision", + "manual digit 1 phalanx", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "manual digit 1 digitopodial skeleton", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "craniocervical region", + "abnormal long bone morphology", + "Anemia", + "abnormal bone marrow cell", + "Acute leukemia", + "manual digit 1 or 5", + "Neoplasm", + "abnormally decreased number of cell", + "muscle organ", "abnormal anatomical entity length", - "Abnormal reproductive system morphology", - "Abnormal external genitalia", - "abnormal developmental process involved in reproduction", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "quality", + "Abnormality of the immune system", + "Thrombocytopenia", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormal size of multicellular organism", + "bone element", + "platelet", + "vestibulo-auditory system", + "hematopoietic cell", + "skeletal element", + "Bone marrow hypocellularity", + "hemolymphoid system", + "Abnormal immune system morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "hematopoietic system", + "multicellular organism", + "autopod bone", + "Abnormal appendicular skeleton morphology", + "Abnormality of limbs", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "endochondral bone", + "subdivision of skeleton", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal limb morphology", + "Abnormality of thumb phalanx", + "All", + "anatomical collection", + "paired limb/fin", + "skeletal musculature of head", + "organism subdivision", + "aplasia or hypoplasia of anatomical entity", "abnormal anatomical entity morphology in the pectoral complex", - "Functional abnormality of male internal genitalia", - "Abnormality of reproductive system physiology", - "absent anatomical entity in the semen", - "Abnormality of male external genitalia", - "Phenotypic abnormality", - "abnormal reproductive system morphology", - "decreased qualitatively developmental process", - "abnormality of internal male genitalia physiology", - "abnormal male reproductive system", - "abnormal kidney morphology", - "decreased spermatogenesis", - "abnormal large intestine morphology", - "absent sperm in the independent continuant", - "abnormally localised anatomical entity in independent continuant", - "absent sperm", - "abnormality of reproductive system physiology", - "abnormal number of anatomical enitites of type sperm", - "Non-obstructive azoospermia", - "abnormal male reproductive organ morphology", - "Fetal anomaly", - "abnormal external male genitalia", + "segment of manus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "protein-containing material entity", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal ear", + "abnormal autopod region morphology", + "bone of free limb or fin", + "abnormal manual digit morphology in the independent continuant", + "Abnormal hand morphology", + "Hematological neoplasm", + "Abnormality of the hand", + "decreased biological_process", + "Short stature", + "Aplasia/hypoplasia of the extremities", + "appendicular skeletal system", + "Facial palsy", + "manual digit", + "paralysed anatomical entity", + "phalanx endochondral element", + "Abnormal ear physiology", + "sensory perception of sound", + "Abnormal myeloid cell morphology", + "digit 1 or 5", + "arm", + "lateral structure", + "Acute myeloid leukemia", + "Short digit", + "bone of pectoral complex", + "Leukemia", + "entity", + "subdivision of skeletal system", + "limb skeleton subdivision", + "upper limb segment", + "appendicular skeleton", + "forelimb skeleton", + "decreased qualitatively sensory perception of sound", + "limb", + "cell", + "Abnormality of the upper limb", + "Duplication of thumb phalanx", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "abnormal DNA metabolic process", + "blood cell", + "abnormal manual digit morphology in the manus", + "head", + "Abnormality of limb bone", + "cranial nerve", + "abnormal phalanx morphology", + "pectoral complex", + "digit 1 digitopodial skeleton", + "abnormal face", + "autopodial extension", + "digit 1 plus metapodial segment", + "endochondral element", + "abnormality of muscle organ physiology", + "multi-limb segment region", + "manual digit phalanx endochondral element", + "appendage", + "digit plus metapodial segment", + "decreased length of manual digit", "Short finger", - "thenar eminence hypoplasia", + "skeleton of manus", + "abnormal sensory perception", + "abnormal manus", + "aplasia or hypoplasia of manual digit 1", + "bone marrow cell", + "system", "decreased length of digit", - "Deviation of finger", - "abnormal manual digit 1 morphology", "Short thumb", - "Short digit", - "Aplasia/hypoplasia involving forearm bones", - "deviation of anatomical entity", - "abnormal primary metabolic process", - "Deviation of the hand or of fingers of the hand", - "abnormal size of multicellular organism", - "decreased height of the anatomical entity", - "abnormality of anatomical entity height", - "Aplasia/hypoplasia of the extremities", - "decreased biological_process", - "Short stature", - "decreased size of the multicellular organism", - "abnormal growth", - "abnormal cardiovascular system", - "delayed growth" + "abnormal manual digit 1 morphology", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "paired limb/fin skeleton", + "autopodial skeleton", + "skeleton of digitopodium", + "subdivision of organism along appendicular axis", + "skeleton of limb", + "abnormal manus morphology", + "pectoral appendage skeleton", + "Abnormal long bone morphology", + "Duplication of hand bones", + "primary metabolic process", + "skeleton of manual digitopodium", + "axial musculature", + "manual digit digitopodial skeleton", + "forelimb bone", + "peripheral nervous system", + "obsolete cell", + "limb long bone", + "Duplication of phalanx of hand", + "individual digit of digitopodial skeleton", + "abnormal head", + "skeleton of manual acropodium", + "pectoral appendage", + "autopod endochondral element", + "forelimb long bone", + "digitopodium bone", + "phalanx of manus", + "manual digit 1 phalanx endochondral element" ], - "has_phenotype_count": 15, + "has_phenotype_count": 11, "highlight": null, "score": null }, { - "id": "MONDO:0013565", + "id": "MONDO:0014987", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group G", + "name": "Fanconi anemia complementation group U", "full_name": null, "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCG gene.", - "xref": [ - "DOID:0111086", - "EFO:0009046", - "GARD:15753", - "NCIT:C125708", - "OMIM:614082" - ], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene.", + "xref": ["DOID:0111085", "GARD:16215", "OMIM:617247", "UMLS:C4310651"], "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" + "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", "has_phenotype": [ - "HP:0001875", + "HP:0040012", + "HP:0000086", + "HP:0002984", + "HP:0009777", + "HP:0011835", "HP:0000252", - "HP:0002863", "HP:0001510", - "HP:0001873", - "HP:0007565", - "HP:0000568", - "HP:0001172", - "HP:0001903", - "HP:0003220", - "HP:0001909" + "HP:0003974", + "HP:0001643", + "HP:0012799", + "HP:0010035" ], "has_phenotype_label": [ - "Neutropenia", + "Chromosome breakage", + "Ectopic kidney", + "Hypoplasia of the radius", + "Absent thumb", + "Absent scaphoid", "Microcephaly", - "Myelodysplasia", "Growth delay", - "Thrombocytopenia", - "Multiple cafe-au-lait spots", - "Microphthalmia", - "Abnormal thumb morphology", - "Anemia", - "Abnormality of chromosome stability", - "Leukemia" + "Absent radius", + "Patent ductus arteriosus", + "Unilateral facial palsy", + "Aplasia of the 1st metacarpal" ], "has_phenotype_closure": [ - "HP:0011017", - "HP:0003220", - "HP:0012130", - "UPHENO:0088162", - "HP:0001909", - "HP:0001877", - "HP:0001903", - "UPHENO:0086700", - "UPHENO:0002708", - "UPHENO:0076727", - "HP:0001155", - "UPHENO:0084766", - "HP:0001167", - "UPHENO:0086633", - "HP:0005922", - "UPHENO:0076740", - "UPHENO:0086635", - "UPHENO:0084448", - "UPHENO:0076723", - "UPHENO:0076724", - "HP:0040068", - "HP:0001172", + "UBERON:0015043", + "UBERON:0002374", + "UBERON:0003221", + "UBERON:0003821", + "UBERON:0012357", + "UBERON:0010546", + "HP:0009658", + "UBERON:0015023", + "UBERON:0015024", + "UBERON:5106048", + "UBERON:0010688", + "HP:0005918", + "HP:0009767", + "UPHENO:0084458", + "UPHENO:0025593", + "UPHENO:0076755", + "UPHENO:0009400", + "HP:0010048", + "UBERON:5101463", + "UPHENO:0021840", + "HP:0005916", + "HP:0009834", + "UPHENO:0080164", + "UBERON:0002234", + "UBERON:0004302", + "UBERON:0009877", + "UBERON:0002544", + "UBERON:0005451", + "UPHENO:0081466", + "UBERON:0000467", + "UBERON:0001423", + "HP:0011603", + "UBERON:0003460", + "UPHENO:0001002", + "UBERON:0015061", + "UBERON:0003129", + "UBERON:0011582", + "UBERON:0004708", + "UBERON:0004572", + "UBERON:0012139", "UPHENO:0012541", - "UPHENO:0087924", - "HP:0100887", - "UPHENO:0075997", - "HP:0000315", - "HP:0012372", - "UPHENO:0068971", - "HP:0000271", - "UPHENO:0080209", - "UPHENO:0075219", - "UPHENO:0079876", - "UPHENO:0069523", - "UPHENO:0002905", - "HP:0012733", - "HP:0000953", - "UPHENO:0076739", - "UPHENO:0002635", - "UPHENO:0080221", - "UPHENO:0003811", - "UPHENO:0082682", - "UPHENO:0060026", - "UPHENO:0088170", - "UPHENO:0059829", - "HP:0011355", - "UPHENO:0054970", - "UPHENO:0080377", - "HP:0001574", + "UBERON:0012150", + "GO:0090304", + "UBERON:0014395", + "UPHENO:0046540", + "UBERON:0000477", + "UPHENO:0080114", + "HP:0001167", "HP:0040064", - "UPHENO:0080662", - "UPHENO:0088318", - "UPHENO:0084928", - "HP:0008056", - "BFO:0000002", - "UPHENO:0085076", - "HP:0007565", - "UPHENO:0085984", - "UPHENO:0085371", - "HP:0025354", - "HP:0032251", - "UPHENO:0004459", - "HP:0020047", - "HP:0011893", - "UPHENO:0085330", - "UPHENO:0022529", - "UPHENO:0075220", - "BFO:0000001", - "UPHENO:0035025", - "UPHENO:0088321", - "HP:0001507", - "UPHENO:0085068", - "HP:0001939", - "UPHENO:0088335", - "UPHENO:0074575", - "HP:0000929", - "UPHENO:0002880", - "HP:0032309", - "HP:0002813", + "HP:0009810", + "UBERON:0003606", + "HP:0033127", + "UBERON:0001630", + "UPHENO:0081313", + "HP:0011842", + "UPHENO:0075696", + "HP:0006502", + "HP:0010035", + "UBERON:0000075", + "UPHENO:0069294", + "UPHENO:0080126", + "HP:0011844", + "GO:0009892", + "UPHENO:0087369", + "UBERON:0001033", + "UBERON:0004461", + "UBERON:0007272", + "UPHENO:0009338", + "UBERON:0004537", + "UPHENO:0076765", + "HP:0009822", + "UPHENO:0076727", + "UPHENO:0012274", + "UBERON:0002113", + "UBERON:0003645", + "HP:0011314", + "UBERON:0002428", + "UBERON:0010740", + "UPHENO:0081792", + "UBERON:0004375", + "UPHENO:0076810", + "HP:0005773", + "HP:0031910", + "UBERON:0001460", + "GO:0040007", + "UBERON:0015063", + "HP:0009826", + "UBERON:0010708", + "UBERON:0001440", + "UPHENO:0084447", "UPHENO:0020584", - "UPHENO:0076799", - "UPHENO:0006910", + "UBERON:0007798", + "UBERON:0002091", + "UBERON:0011584", + "UBERON:0000026", + "UBERON:0002201", + "HP:0006824", + "UBERON:0010712", + "UBERON:0019231", + "UPHENO:0002844", + "HP:0006503", + "UPHENO:0086956", + "UBERON:0018254", + "RO:0002577", + "UBERON:0000073", + "UPHENO:0076724", + "UPHENO:0081451", + "UBERON:0003466", + "UPHENO:0026183", + "HP:0040070", + "UBERON:0008785", + "GO:0010558", + "GO:0048519", + "UBERON:0006058", + "UBERON:0010363", + "GO:0044237", + "HP:0010009", + "HP:0002977", + "UBERON:0001647", + "HP:0009824", + "UBERON:0010538", + "UBERON:0000061", + "GO:1901360", + "UPHENO:0026001", + "HP:0100547", + "UBERON:0005985", + "UPHENO:0075195", + "HP:0006501", + "UPHENO:0087907", + "UPHENO:0076703", + "HP:0003974", + "UPHENO:0081204", + "UBERON:0002102", + "UBERON:0004710", + "UPHENO:0084448", + "UBERON:0013702", + "UPHENO:0080187", + "UPHENO:0009341", + "UPHENO:0079872", + "UPHENO:0081091", + "UPHENO:0076710", + "HP:0009601", + "UBERON:0003607", + "HP:0100542", + "UBERON:0000916", + "UBERON:0011249", + "UPHENO:0026028", + "UBERON:0002529", + "UBERON:0004905", + "UBERON:0001008", + "UPHENO:0049587", + "BFO:0000015", + "UPHENO:0050021", + "UBERON:0034925", + "UPHENO:0050121", + "HP:0002984", + "GO:0031327", + "HP:0009821", + "UBERON:0010912", + "HP:0040072", + "GO:0010556", + "PR:000050567", + "HP:0009815", + "UPHENO:0033572", + "BFO:0000002", + "HP:0005914", "HP:0012639", - "UPHENO:0002910", - "UPHENO:0086045", - "UPHENO:0086016", - "UPHENO:0086049", - "UPHENO:0049874", - "UPHENO:0085356", - "UPHENO:0076702", - "UPHENO:0085302", - "UPHENO:0085344", - "HP:0001881", + "UPHENO:0049700", + "UBERON:0010544", + "HP:0005927", + "GO:0009890", + "UPHENO:0031839", + "GO:0006259", + "UBERON:0001474", + "UBERON:0001981", + "UPHENO:0082875", + "GO:0006139", + "UPHENO:0076718", + "UPHENO:0015290", + "UPHENO:0086172", + "UPHENO:0005116", + "UPHENO:0049990", + "GO:0006807", + "UPHENO:0006910", + "UPHENO:0049873", + "UBERON:0000153", + "UBERON:0009880", + "UPHENO:0002678", + "UPHENO:0025701", + "UBERON:5006048", + "GO:0005623", + "UBERON:0000955", + "UBERON:0010703", + "GO:0009987", + "GO:0071824", + "UPHENO:0001003", + "UBERON:0006717", + "HP:0009659", + "UBERON:5002389", + "UPHENO:0087496", + "BFO:0000003", + "UBERON:0012358", + "CL:0000000", + "HP:0002818", + "HP:0002813", + "GO:0071840", + "UBERON:0004770", + "UBERON:0001015", + "UBERON:0000465", + "UBERON:0008229", + "UBERON:0010959", + "GO:0031052", + "GO:0031323", + "UBERON:0002513", + "UBERON:0011138", + "GO:0031324", + "UBERON:0002100", + "UPHENO:0002320", + "GO:0065007", "HP:0002817", - "HP:0000707", - "UPHENO:0088176", - "UPHENO:0002948", - "HP:0011793", - "UPHENO:0000541", - "UPHENO:0086005", + "UPHENO:0001001", + "GO:0044238", + "GO:0010629", + "HP:0001626", + "GO:0071704", + "GO:0009889", + "UBERON:0017750", + "HP:0030680", + "GO:0006325", + "UBERON:0003103", + "HP:0000077", + "UPHENO:0002905", + "HP:0003026", + "UBERON:0005172", + "UPHENO:0002803", + "UPHENO:0002832", + "UPHENO:0086633", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "GO:0046483", + "UPHENO:0084766", + "BFO:0000004", + "UBERON:0001434", + "HP:0006496", + "GO:0031326", "UPHENO:0084763", + "UPHENO:0087309", + "UBERON:0004122", + "UPHENO:0080083", + "HP:0010935", + "HP:0000301", + "UBERON:0010741", + "UBERON:0002101", + "HP:0000152", + "UBERON:0013701", + "GO:0050789", + "HP:0000079", + "UPHENO:0026128", + "GO:0048523", + "UBERON:0004120", + "UPHENO:0076779", + "UBERON:5001463", + "HP:0000001", + "UBERON:0001442", + "UPHENO:0001005", + "HP:0040195", + "HP:0000086", + "UBERON:0034713", + "HP:0000707", + "UPHENO:0049748", + "UBERON:0002075", + "GO:0031049", + "UPHENO:0050113", + "GO:0060255", + "UPHENO:0076740", + "GO:0008150", + "UPHENO:0020888", + "UPHENO:0049367", + "UPHENO:0050116", + "BFO:0000040", + "UBERON:0015212", + "UBERON:0010314", + "HP:0000929", + "GO:0034641", + "GO:0008152", + "UPHENO:0087501", + "GO:0006725", + "UBERON:0001893", + "GO:0043933", + "UPHENO:0002896", + "UPHENO:0076767", + "UBERON:0011250", + "UBERON:0013700", + "GO:0019222", + "HP:0025354", + "GO:0050794", + "HP:0003220", + "UPHENO:0002536", + "UPHENO:0076692", + "HP:0045060", + "UBERON:0012151", + "NCBITaxon:33208", + "HP:0011017", + "UBERON:0002470", + "UPHENO:0081790", + "UBERON:0001577", + "UBERON:0011143", + "UPHENO:0053580", + "UPHENO:0002816", + "UBERON:0005173", + "UPHENO:0087427", + "UPHENO:0002332", + "UBERON:0010758", + "UBERON:8450002", + "UBERON:0000062", + "UBERON:0004765", + "UPHENO:0053588", + "UBERON:0002398", + "UBERON:0009569", + "UBERON:0002417", + "UPHENO:0026144", + "UBERON:0005090", + "UBERON:0005178", + "UBERON:0001444", + "UPHENO:0018390", + "UPHENO:0068971", + "UPHENO:0008668", + "UPHENO:0079876", + "GO:0043170", + "UPHENO:0002642", + "UPHENO:0080325", + "HP:0001627", + "UPHENO:0002880", + "UBERON:0012475", + "BFO:0000001", + "HP:0010628", + "UBERON:0010000", + "UBERON:0004716", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UBERON:0002204", + "UBERON:0002090", + "HP:0030319", + "UPHENO:0026506", + "HP:0009602", + "HP:0011804", + "HP:0009380", + "UPHENO:0087510", + "UBERON:5002544", + "UPHENO:0076723", + "NCBITaxon:131567", + "HP:0040068", + "UPHENO:0002708", + "UPHENO:0080099", + "UPHENO:0008523", "UPHENO:0087518", - "HP:0100547", - "HP:0000118", - "UPHENO:0002830", - "UPHENO:0076675", - "UPHENO:0085042", - "UPHENO:0004523", - "HP:0002715", - "HP:0011297", - "UPHENO:0087472", - "UPHENO:0085118", - "HP:0010974", - "HP:0012443", - "PATO:0000001", - "UPHENO:0087006", - "UPHENO:0077426", - "HP:0001875", - "HP:0011844", - "UPHENO:0086172", - "UPHENO:0001005", - "HP:0007400", - "HP:0000001", - "UPHENO:0086019", + "OBI:0100026", + "UBERON:0001062", + "UBERON:0005881", + "UBERON:0015021", + "UBERON:0003509", + "UBERON:0004573", + "UBERON:0004381", "UPHENO:0011498", - "HP:0009121", - "UPHENO:0085354", - "UPHENO:0088166", - "UPHENO:0076703", - "UPHENO:0001003", - "UPHENO:0054957", - "UPHENO:0015280", - "UPHENO:0086176", - "HP:0000478", - "UPHENO:0063722", - "HP:0001872", - "UPHENO:0074589", - "HP:0011991", - "BFO:0000020", - "HP:0002664", - "UPHENO:0002536", - "HP:0040195", - "UPHENO:0075195", - "UPHENO:0086173", - "HP:0001000", - "UPHENO:0001001", + "UBERON:0004249", + "UBERON:0019221", + "UPHENO:0046538", + "UPHENO:0087349", + "UBERON:0000468", + "UBERON:0002389", + "UBERON:0013581", + "NCBITaxon:2759", + "HP:0005922", + "UPHENO:0087006", + "UBERON:0015001", + "HP:0001155", + "UPHENO:0078606", + "HP:0006265", + "UPHENO:0084761", + "UPHENO:0081455", + "HP:0011297", + "UPHENO:0046505", + "UBERON:0013768", + "HP:0009777", + "HP:0011805", + "HP:0002973", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0086700", + "UBERON:0005944", + "UBERON:0004452", + "HP:0001191", + "UBERON:0001427", + "UPHENO:0016527", + "HP:0001367", + "UBERON:0006716", + "UBERON:5102389", + "UPHENO:0075655", + "UBERON:0001480", + "UPHENO:0026023", + "HP:0009823", + "HP:0004243", + "UBERON:0002495", + "UPHENO:0002751", + "UBERON:0004535", + "UBERON:0015078", + "UPHENO:0081524", + "UPHENO:0080173", + "UBERON:0000982", + "UPHENO:0002696", + "HP:0004231", + "HP:0003019", + "UPHENO:0020041", + "HP:0000271", + "HP:0010827", + "UPHENO:0002973", + "HP:0009825", + "UPHENO:0009382", + "UPHENO:0002961", + "HP:0030962", + "HP:0011835", + "UBERON:0000948", + "UPHENO:0015324", + "UBERON:0034921", + "GO:0010605", + "UBERON:0005897", + "UBERON:0015049", + "UBERON:0003656", + "UPHENO:0086589", "UPHENO:0076791", - "HP:0007364", - "HP:0002977", - "UPHENO:0087907", - "HP:0001911", - "UPHENO:0002764", - "HP:0001874", - "UPHENO:0076805", - "HP:0033127", - "UPHENO:0087123", + "UBERON:0007811", "UPHENO:0087089", - "HP:0011842", - "HP:0000240", - "UPHENO:0002896", - "HP:0000951", - "UPHENO:0086589", - "UPHENO:0049587", - "UPHENO:0084987", - "HP:0002011", - "UPHENO:0088338", - "HP:0000234", - "UPHENO:0020888", - "HP:0002060", - "HP:0000568", - "HP:0000152", - "HP:0001871", - "UPHENO:0075696", - "UPHENO:0074584", - "HP:0010987", + "HP:0009121", "HP:0000924", - "UPHENO:0081435", + "UBERON:0004121", + "UBERON:0000033", + "HP:0002060", + "UPHENO:0080160", + "HP:0009115", + "UPHENO:0004523", "UPHENO:0080079", - "HP:0001873", - "HP:0000252", - "UPHENO:0003020", + "HP:0007364", + "UPHENO:0081521", + "UPHENO:0086635", + "HP:0000240", + "UPHENO:0076722", + "UBERON:0001017", + "UPHENO:0026181", "UPHENO:0002964", - "UPHENO:0001002", - "UPHENO:0002844", - "HP:0025461", - "UPHENO:0085189", + "HP:0012443", + "UBERON:0002616", + "UBERON:0002049", + "UBERON:0001016", + "UBERON:5102544", + "UBERON:0004111", + "UBERON:0011137", + "UPHENO:0075220", + "UBERON:0001890", + "UBERON:0015042", "UPHENO:0080200", - "UPHENO:0084761", - "UPHENO:0021474", - "HP:0011121", + "UPHENO:0076772", + "UPHENO:0002764", + "UPHENO:0076805", + "HP:0000234", + "UPHENO:0087018", + "NCBITaxon:33154", + "HP:0000252", + "HP:0011799", + "HP:0040012", + "UBERON:0010707", + "UPHENO:0022529", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0012354", + "BFO:0000020", + "UPHENO:0004508", "UPHENO:0081566", - "HP:0002863", + "NCBITaxon:1", + "UBERON:0000481", + "UBERON:0010543", + "HP:0001507", + "UBERON:0001436", + "GO:0010468", + "UPHENO:0000541", + "UBERON:0001456", + "UPHENO:0049874", + "HP:0002597", + "PATO:0000001", + "HP:0000759", "UPHENO:0000543", - "HP:0004377", "HP:0001510", - "HP:0011873", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0050008", - "UPHENO:0085405", - "HP:0011875", - "HP:0000957", - "HP:0001034", - "UPHENO:0074572" + "UBERON:0004473", + "HP:0003953", + "UPHENO:0009399", + "UBERON:0006048", + "UPHENO:0025945", + "UPHENO:0076799", + "HP:0000119", + "UPHENO:0081511", + "UBERON:0001637", + "UPHENO:0015280", + "UPHENO:0075902", + "GO:0016043", + "UPHENO:0080168", + "HP:0000118", + "UBERON:0003834", + "UBERON:0000489", + "UBERON:0010323", + "UBERON:0000055", + "UBERON:0000915", + "UBERON:0005181", + "UBERON:0015410", + "UBERON:0002386", + "UBERON:0001435", + "UBERON:0005440", + "UBERON:0005177", + "UPHENO:0087334", + "UBERON:0011779", + "UBERON:0004145", + "UPHENO:0076729", + "UPHENO:0081435", + "UPHENO:0087186", + "UPHENO:0080362", + "HP:0025015", + "HP:0033353", + "UBERON:0001009", + "UBERON:0012140", + "UBERON:0004571", + "HP:0001643", + "NCBITaxon:6072", + "UPHENO:0076776", + "UPHENO:0086797", + "UBERON:0012141", + "UBERON:0003513", + "UBERON:0011695", + "UBERON:0003620", + "UPHENO:0033603", + "UBERON:0003498", + "UBERON:0006876", + "UBERON:0004288", + "UPHENO:0002830", + "UBERON:0015228", + "UBERON:0018674", + "UBERON:0013630", + "UBERON:0034923", + "HP:0010242", + "UBERON:0007100", + "UPHENO:0002908", + "UPHENO:0003587", + "UBERON:0000383", + "UPHENO:0021800", + "UBERON:0001785", + "UBERON:0014892", + "UPHENO:0080555", + "HP:0045010", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0081700", + "UBERON:0002471", + "UPHENO:0081755", + "UPHENO:0078730", + "UPHENO:0081709", + "UBERON:0000122", + "HP:0001324", + "HP:0410008", + "UPHENO:0002433", + "UPHENO:0088186", + "UBERON:0009878", + "UBERON:0005162", + "UBERON:0001021", + "UPHENO:0002910", + "UPHENO:0080556", + "UBERON:0015789", + "HP:0003011", + "UBERON:0011216", + "UPHENO:0079870", + "HP:0001291", + "HP:0012799", + "HP:0012638", + "UBERON:0004453", + "UBERON:0002376", + "UBERON:0000010", + "UPHENO:0026055", + "UPHENO:0081515", + "HP:0009851", + "HP:0010026", + "UPHENO:0080191", + "HP:0009802" ], "has_phenotype_closure_label": [ - "Abnormality of metabolism/homeostasis", - "Abnormal cellular physiology", - "Abnormal erythrocyte morphology", - "abnormal manual digit 1 morphology", - "abnormal limb bone morphology", - "abnormal digit", - "abnormal manus morphology", + "manual digit 1 phalanx endochondral element", + "manual digit 1 metacarpus endochondral element", + "metapodial skeleton", + "skeleton of digitopodium", + "abnormal phalanx of manus morphology", + "aplasia or hypoplasia of manual digit 1 phalanx", + "Abnormality of thumb phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "phalanx endochondral element", + "manual digit phalanx endochondral element", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Abnormal proximal phalanx morphology of the hand", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of proximal phalanx of manus", + "Aplasia/Hypoplasia of the 1st metacarpal", + "digit 1 digitopodial skeleton", + "manual digit digitopodial skeleton", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "metapodium bone", + "digitopodium bone", + "skeleton of manual acropodium", + "metacarpal bone of digit 1", + "proximal phalanx of manus", "abnormal manual digit morphology in the independent continuant", - "abnormal limb", - "abnormal arm", - "Abnormality of the hand", - "Abnormality of limb bone", - "Abnormal digit morphology", - "Abnormal finger morphology", - "Abnormal appendicular skeleton morphology", - "Abnormality of limbs", - "Abnormality of limb bone morphology", - "Abnormal hand morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal limb morphology", - "abnormal manual digit morphology in the manus", - "Abnormality of chromosome stability", - "abnormal manus", - "abnormal forelimb morphology", - "Abnormality of the face", - "Microphthalmia", + "organism", + "Finger aplasia", + "cardiovascular system", + "abnormal manus morphology", + "pectoral appendage skeleton", + "segment of manus", + "protein-containing material entity", + "Aplasia/hypoplasia involving bones of the extremities", + "skeleton of limb", + "Aplasia involving forearm bones", + "paired limb/fin skeleton", + "system", + "decreased size of the anatomical entity in the independent continuant", + "limb long bone", + "zeugopodial skeleton", + "peripheral nervous system", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "paired limb/fin segment", + "bone element", + "pectoral complex", + "trunk region element", + "head", + "Aplasia involving bones of the upper limbs", + "arm bone", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "Abnormal skeletal morphology", + "forelimb endochondral element", + "primary metabolic process", + "skeletal system", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "forelimb zeugopod bone hypoplasia", + "endochondral bone", + "subdivision of skeleton", + "Aplasia/Hypoplasia of the radius", + "abnormal upper urinary tract", + "Limb undergrowth", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", + "craniocervical region", + "forelimb bone", + "anatomical entity hypoplasia", + "Aplasia/hypoplasia of the extremities", + "decreased size of the radius bone", + "Abnormal cellular phenotype", "abnormal autopod region morphology", - "abnormal camera-type eye morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal eye morphology", - "abnormal eyeball of camera-type eye", - "Abnormality of the orbital region", - "aplasia or hypoplasia of eyeball of camera-type eye", - "changed biological_process rate in independent continuant", - "abnormal face morphology", - "increased biological_process", - "abnormal pigmentation in independent continuant", - "Hyperpigmentation of the skin", - "increased biological_process in independent continuant", - "Hypermelanotic macule", - "abnormally decreased number of anatomical entity in the independent continuant", - "Neutropenia", - "abnormal head", - "Abnormality of the upper limb", - "abnormal number of anatomical enitites of type granulocyte", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "abnormal erythrocyte morphology", - "abnormally decreased number of anatomical entity", - "Abnormality of the immune system", - "Abnormal leukocyte count", - "abnormal granulocyte morphology", - "abnormally decreased number of granulocyte in the independent continuant", - "abnormally decreased number of myeloid cell", - "abnormal central nervous system morphology", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of the integument", - "aplasia or hypoplasia of anatomical entity", - "abnormal immune system", "abnormal anatomical entity", - "Abnormal granulocyte morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "abnormal blood cell morphology", - "Phenotypic abnormality", - "Abnormal cerebral morphology", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of skull size", - "Abnormality of neutrophils", - "abnormally decreased number of cell in the independent continuant", - "phenotype", - "quality", - "decreased size of the eyeball of camera-type eye", - "Neoplasm by anatomical site", - "Abnormality of skin pigmentation", - "abnormal craniocervical region", - "abnormally decreased number of leukocyte", - "abnormal hematopoietic cell morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Growth abnormality", - "increased pigmentation in skin of body", - "Leukemia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal head morphology", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "abnormal skin of body morphology", - "increased qualitatively biological_process", - "Abnormality of the skin", - "abnormal neutrophil", - "abnormal orbital region", - "Abnormal cell morphology", - "abnormal myeloid leukocyte morphology", - "abnormal number of anatomical entities of type myeloid cell in independent continuant", - "specifically dependent continuant", - "abnormal immune system morphology", - "abnormally decreased number of myeloid cell in the independent continuant", - "abnormal digit morphology", - "Thrombocytopenia", - "Abnormal forebrain morphology", - "Anemia", - "Abnormality of the head", + "skeleton", + "paired limb/fin", + "anatomical collection", + "All", + "Aplasia involving bones of the extremities", + "absent manual digit", "abnormal phenotype by ontology source", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "Abnormality of limb bone morphology", + "individual digit of digitopodial skeleton", + "regulation of cellular metabolic process", + "Abnormality of limbs", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "blood vessel", + "outflow tract", + "obsolete cellular aromatic compound metabolic process", + "abnormal facial muscle", + "Forearm undergrowth", + "decreased size of the anatomical entity", + "Abnormal appendicular skeleton morphology", + "subdivision of organism along appendicular axis", + "aplasia or hypoplasia of anatomical entity", + "radius bone hypoplasia", + "aplastic forelimb zeugopod bone", + "Abnormality of the vasculature", + "Abnormal forearm bone morphology", + "Abnormality of the skeletal system", + "facial nerve", + "limb", + "cell", + "Abnormality of the upper limb", + "radius endochondral element", + "manus", + "Upper limb undergrowth", + "manual digit 1 phalanx", + "abnormal forelimb zeugopod bone", + "abnormal size of anatomical entity", + "regulation of cellular process", + "digitopodium region", + "abnormal skeletal joint morphology in the pectoral complex", + "nucleobase-containing compound metabolic process", + "absent digit", + "Abnormal morphology of the radius", + "abdomen element", + "obsolete nitrogen compound metabolic process", + "thoracic segment blood vessel", + "excretory system", + "circulatory system", + "zeugopod", + "skeletal element", + "renal system", + "Abnormal localization of kidney", + "biological_process", + "subdivision of skeletal system", + "entity", + "abnormal nitrogen compound metabolic process", + "abdominal segment element", + "absent anatomical entity in the metacarpus region", + "Abnormal joint morphology", + "body proper", + "abnormal peripheral nervous system", + "abnormal primary metabolic process", + "obsolete cell", + "decreased length of long bone", + "programmed DNA elimination", + "appendicular skeletal system", + "radiale", + "material anatomical entity", + "muscle structure", + "chromatin organization", + "abnormal metabolic process", + "thoracic segment organ", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", + "appendicular skeleton", + "upper limb segment", + "organ", + "abnormality of nervous system physiology", + "abnormal digit", + "cellular organisms", + "thoracic segment of trunk", + "Abnormality of the musculature", + "short bone", + "abnormal organelle organization", + "face", + "aplasia or hypoplasia of manual digit", + "abnormal chromatin organization", + "Chromosome breakage", + "protein-containing complex organization", + "abnormality of muscle organ physiology", + "segment of autopod", + "organic cyclic compound metabolic process", + "manual digitopodium bone", + "independent continuant", "abnormal growth", - "Abnormal cellular phenotype", - "Abnormal thumb morphology", - "phenotype by ontology source", - "Decreased head circumference", - "delayed growth", - "Abnormality of globe size", - "increased pigmentation", - "increased pigmentation in independent continuant", - "abnormal limb bone", + "abnormal cellular process", + "obsolete cellular nitrogen compound metabolic process", + "postcranial axial skeletal system", + "organelle organization", + "metabolic process", + "Abnormality of facial musculature", + "articulation", + "regional part of nervous system", + "abnormally localised anatomical entity", + "nucleic acid metabolic process", + "process", + "Congenital malformation of the great arteries", + "bone element hypoplasia in independent continuant", + "Unilateral facial palsy", + "abnormal forelimb zeugopod morphology", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "cellular metabolic process", + "abnormal cranial nerve morphology", + "forelimb zeugopod", + "programmed DNA elimination by chromosome breakage", + "cellular component organization or biogenesis", + "continuant", + "specifically dependent continuant", + "abnormal programmed DNA elimination by chromosome breakage", + "acropodial skeleton", + "Abnormal muscle physiology", + "Phenotypic abnormality", + "regulation of macromolecule metabolic process", + "abnormal cellular component organization", + "compound organ", + "Abnormality of the peripheral nervous system", + "mesoderm-derived structure", + "autopod bone", + "thoracic cavity element", "abnormal number of anatomical enitites of type anatomical entity", - "increased qualitatively biological_process in independent continuant", - "abnormal leukocyte morphology", - "abnormally decreased number of cell", - "abnormal cell", + "limb bone", + "Aplasia of the proximal phalanges of the hand", + "abnormal limb bone", "Abnormal nervous system morphology", - "Cafe-au-lait spot", - "abnormal number of anatomical enitites of type cell", - "abnormally decreased number of granulocyte", - "abnormal hematopoietic system", - "entity", - "Abnormality of blood and blood-forming tissues", - "abnormal cell morphology", - "abnormal size of skull", - "abnormal face", - "abnormally decreased number of hematopoietic cell", - "abnormal myeloid cell morphology", - "changed biological_process rate", - "abnormal forebrain morphology", - "Abnormal myeloid cell morphology", - "abnormally decreased number of leukocyte in the independent continuant", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal neutrophil count", - "abnormal appendicular skeleton morphology", - "abnormal blood cell", - "All", - "continuant", - "abnormal craniocervical region morphology", - "abnormal size of eyeball of camera-type eye", - "Abnormal cellular immune system morphology", - "abnormal axial skeleton plus cranial skeleton morphology", - "Hematological neoplasm", - "abnormal anatomical entity morphology in the brain", - "aplasia or hypoplasia of telencephalon", - "Myelodysplasia", - "decreased size of the anatomical entity in the independent continuant", - "abnormal telencephalon morphology", - "Multiple cafe-au-lait spots", - "Abnormal leukocyte morphology", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "abnormal anatomical entity topology in independent continuant", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "regulation of gene expression", + "quality", + "forelimb zeugopod skeleton", + "proximal mesopodial bone", + "regulation of cellular biosynthetic process", + "Abnormality of the genitourinary system", + "forebrain", + "abnormal kidney morphology", + "abnormal carpal bone morphology", + "musculature of face", + "cellular component organization", + "manual digit 1 or 5", + "negative regulation of metabolic process", + "Aplasia/hypoplasia involving the skeleton", + "anatomical entity", + "bone of appendage girdle complex", + "abnormal anatomical entity morphology in the appendage girdle complex", + "regulation of biosynthetic process", + "forelimb skeleton", + "genitourinary system", + "abnormal limb", + "negative regulation of cellular process", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "musculoskeletal system", + "abnormal cellular metabolic process", + "Abnormality of cardiovascular system morphology", + "bone of pectoral complex", + "decreased length of anatomical entity", + "carpal region", + "limb skeleton subdivision", + "skull", + "biological regulation", + "abdominal segment of trunk", + "abnormally localised kidney", + "phenotype by ontology source", + "Abnormality of chromosome stability", + "abnormal kidney", + "abnormal central nervous system morphology", + "arm", + "protein-DNA complex organization", + "abnormal systemic artery morphology", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "decreased length of forelimb zeugopod bone", + "phalanx of manus", + "long bone", + "material entity", + "negative regulation of biosynthetic process", + "Abnormality of the kidney", + "paralysed anatomical entity", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "aplastic manual digit 1 phalanx", + "muscle organ", + "multicellular organism", + "regulation of macromolecule biosynthetic process", + "macromolecule metabolic process", + "vascular system", + "Ectopic kidney", + "abnormal proximal phalanx of manus morphology", + "cavitated compound organ", "abnormal brain morphology", - "Abnormal skull morphology", - "Abnormality of the eye", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal myeloid leukocyte morphology", + "acropodium region", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of the wrist", + "Abnormal renal morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal anatomical entity morphology in the heart", + "vasculature", + "abnormal renal system", + "negative regulation of cellular biosynthetic process", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "Abnormality of the upper urinary tract", + "abnormal forelimb morphology", + "abnormal location of anatomical entity", + "regulation of biological process", + "arterial blood vessel", + "anatomical entity hypoplasia in independent continuant", + "skeletal musculature of head", + "anatomical system", + "appendage", + "root", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "abnormally localised anatomical entity in independent continuant", + "organ system subdivision", + "abnormal renal system morphology", + "aplastic carpal bone", + "nervous system", + "forelimb zeugopod bone", "Abnormality of brain morphology", - "Abnormality of head or neck", + "Aplasia of the phalanges of the hand", + "appendage girdle complex", + "subdivision of head", + "trunk", + "skeletal musculature", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "anterior region of body", + "aplastic anatomical entity", + "subdivision of organism along main body axis", + "abnormal appendicular skeleton morphology", + "abnormality of cranial nerve physiology", + "limb endochondral element", + "Short forearm", + "delayed biological_process", + "Aplasia/Hypoplasia of the thumb", + "aplastic manual digit 1", + "manual digit", + "phalanx", + "vasculature of organ", + "digit 1 or 5", + "skeleton of manual digitopodium", + "primary circulatory organ", + "abdomen", + "manual digit 1 plus metapodial segment", + "Abnormal finger morphology", + "Aplasia/Hypoplasia of fingers", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "subdivision of trunk", + "Abnormal thumb morphology", + "manual digit 1", + "regulation of metabolic process", + "autopodial extension", + "Aplasia of metacarpal bones", + "abnormal face", + "Facial palsy", + "digit", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "agenesis of anatomical entity", + "absent anatomical entity in the multicellular organism", + "digit plus metapodial segment", + "aplastic metacarpal bone of digit 1", + "abnormal manus", + "aplasia or hypoplasia of manual digit 1", + "absent metacarpal bone", + "absent anatomical entity", + "carpal skeleton", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "absent metacarpal bone in the independent continuant", + "autopodial skeleton", + "skeleton of manus", + "abnormal anatomical entity morphology in the skeleton of manus", + "Abnormality of upper limb joint", + "negative regulation of biological process", + "articular system", + "multi organ part structure", + "abnormal carpal region", + "Patent ductus arteriosus", + "aplasia or hypoplasia of carpal bone", + "Decreased head circumference", + "absent carpal bone in the independent continuant", + "Abnormality of the scaphoid", + "Carpal bone aplasia", + "absent radiale", + "systemic arterial system", + "absent radius bone in the independent continuant", + "proximal carpal bone", + "metacarpal bone", + "occurrent", + "absent carpal bone in the limb", + "Aplasia/Hypoplasia involving the carpal bones", + "skeletal joint", + "Absent scaphoid", + "digit 1", + "abnormal carpal bone", + "Abnormality of metabolism/homeostasis", + "abnormal skeletal joint morphology", + "Abnormality of the urinary system", "Morphological central nervous system abnormality", + "abnormal radiale", + "carpus endochondral element", + "Absent thumb", + "proximal mesopodial endochondral element", + "Abnormal carpal morphology", + "mesopodial skeleton", + "abnormal telencephalon morphology", + "bone of free limb or fin", + "mesopodium bone", + "negative regulation of gene expression", + "carpal bone", "abnormal skeletal system morphology", - "Abnormality of the musculoskeletal system", - "Aplasia/Hypoplasia affecting the eye", - "abnormal postcranial axial skeleton morphology", - "Neoplasm", - "abnormal number of anatomical enitites of type neutrophil", + "proximal carpal endochondral element", + "abnormal head morphology", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "Short long bone", + "abnormal skull morphology", + "cranial neuron projection bundle", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "heart", + "organic substance metabolic process", + "Abnormality of the head", + "abnormal limb morphology", + "anatomical conduit", + "autopod region", + "abnormal skeletal joint morphology in the independent continuant", + "Aplasia/Hypoplasia of the cerebrum", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "abnormal craniocervical region morphology", + "Abnormal skull morphology", + "abnormal metacarpal bone morphology", + "abnormal anatomical entity morphology in the brain", + "Abnormality of skull size", + "decreased muscle organ strength", + "cranial skeletal system", + "Abnormality of head or neck", + "Aplasia/hypoplasia involving forearm bones", + "metapodium region", "abnormal nervous system", - "Abnormal axial skeleton morphology", - "Abnormal skeletal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "Microcephaly", - "decreased size of the anatomical entity", - "Abnormal granulocyte count", - "abnormally decreased number of neutrophil", - "Abnormality of the skeletal system", - "Irregular hyperpigmentation", - "abnormal skeletal system", - "abnormal biological_process in independent continuant", - "increased biological_process in skin of body", + "abnormal musculature", + "Abnormality of limb bone", + "autopod endochondral element", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "regional part of brain", + "metacarpus skeleton", + "musculature", + "Growth abnormality", + "axial skeletal system", + "axial skeleton plus cranial skeleton", "Abnormality of the nervous system", - "abnormal erythroid lineage cell morphology", - "abnormal skull morphology", - "abnormal anatomical entity morphology", - "Abnormal platelet morphology", - "abnormal integument", + "Abnormal hand morphology", + "Metazoa", + "heart vasculature", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "telencephalon", + "Abnormal peripheral nerve morphology by anatomical site", + "Weakness of facial musculature", + "abnormal head", + "forelimb long bone", + "abnormal size of skull", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", "abnormal biological_process", + "kidney", "Growth delay", - "delayed biological_process", - "Abnormality of thrombocytes", - "abnormally decreased number of platelet", - "abnormal number of anatomical enitites of type platelet", - "abnormal platelet morphology", - "Abnormal platelet count", - "Localized skin lesion", - "abnormal platelet", - "Abnormality of skin morphology", - "Macule", - "abnormal pigmentation", - "abnormal skin of body" + "lateral structure", + "vessel", + "delayed growth", + "abnormal cardiovascular system", + "Absent radius", + "abnormal manual digit 1 morphology", + "Absent forearm bone", + "absent forelimb zeugopod bone", + "absent radius bone in the forelimb", + "arterial system", + "blood vasculature", + "abnormal incomplete closing of the anatomical entity", + "abnormal great vessel of heart morphology", + "abnormal arm", + "Abnormal vascular morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "Abnormal blood vessel morphology", + "artery", + "abnormal genitourinary system", + "abnormal vasculature", + "Abnormal forearm morphology", + "abnormal artery morphology", + "abnormality of anatomical entity physiology", + "abnormal cell", + "disconnected anatomical group", + "anatomical cluster", + "negative regulation of macromolecule biosynthetic process", + "abnormal vascular system morphology", + "Abnormal heart morphology", + "viscus", + "conceptus", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal coronary vessel morphology", + "abnormal limb long bone morphology", + "heart blood vessel", + "great vessel of heart", + "trunk blood vessel", + "organism subdivision", + "embryonic cardiovascular system", + "metapodium bone 1", + "abnormal blood vessel morphology", + "abnormal opening of the anatomical entity", + "ductus arteriosus", + "abnormal cardiovascular system morphology", + "abnormal artery morphology in the independent continuant", + "abnormal incomplete closing of the ductus arteriosus", + "coronary vessel", + "musculature of body", + "nerve", + "heart plus pericardium", + "vasculature of trunk", + "aplasia or hypoplasia of metacarpal bone", + "mesopodium region", + "systemic artery", + "decreased anatomical entity strength", + "phenotype", + "nerve of head region", + "absent anatomical entity in the independent continuant", + "Muscle weakness", + "Abnormal upper limb bone morphology", + "Abnormal peripheral nervous system morphology", + "abnormal muscle organ morphology", + "abnormal nerve", + "multi-tissue structure", + "abnormal peripheral nervous system morphology", + "neuron projection bundle", + "Abnormal skeletal muscle morphology", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "skeletal muscle organ, vertebrate", + "abnormal metacarpal bone of digit 1 morphology", + "paralysed cranial nerve", + "craniocervical region musculature", + "axial musculature", + "craniocervical muscle", + "Abnormal cranial nerve morphology", + "Abnormality of the face", + "Abnormality of the cardiovascular system", + "Abnormality of the seventh cranial nerve", + "Cranial nerve paralysis", + "multi cell part structure", + "circulatory organ", + "cranial nerve", + "abnormal phalanx morphology", + "Abnormal cranial nerve physiology", + "Abnormality of the hand", + "radius bone", + "manus bone", + "abnormal facial nerve", + "facial muscle", + "Aplasia/Hypoplasia involving the metacarpal bones", + "Abnormality of facial soft tissue", + "Abnormal nervous system physiology", + "main body axis", + "gustatory system", + "cranial muscle", + "cranial or facial muscle", + "Hypoplasia of the radius", + "metacarpus region", + "decreased size of the anatomical entity in the pectoral complex", + "aplastic phalanx of manus", + "aplasia or hypoplasia of phalanx of manus", + "abnormal anatomical entity morphology in the manus", + "proximal phalanx" ], "has_phenotype_count": 11, "highlight": null, "score": null }, { - "id": "MONDO:0044325", + "id": "MONDO:0009214", "category": "biolink:Disease", - "name": "Fanconi anemia, complementation group W", + "name": "Fanconi anemia complementation group D2", "full_name": null, "deprecated": null, - "description": null, - "xref": ["OMIM:617784", "UMLS:C4521564"], + "description": "Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.", + "xref": [ + "DOID:0111083", + "GARD:15169", + "NCIT:C125706", + "OMIM:227646", + "UMLS:C3160738" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, - "synonym": ["FANCW", "Fanconi anemia, complementation group W"], + "synonym": [ + "FA4", + "FAD2", + "FANCD2", + "Fad2", + "Fanconi Anemia, complementation group D", + "Fanconi anemia complementation group D2", + "Fanconi anemia, complementation group D2", + "Fanconi pancytopenia type 4", + "Fanconi pancytopenia, type 4" + ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ + "HP:0007018", + "HP:0000086", + "HP:0001875", + "HP:0002575", "HP:0009777", + "HP:0001734", + "HP:0001249", + "HP:0000238", + "HP:0001627", + "HP:0000369", "HP:0000252", - "HP:0002247", - "HP:0002984", - "HP:0002863", - "HP:0002119", - "HP:0001510", - "HP:0001511", - "HP:0001748", - "HP:0000824", - "HP:0002518", - "HP:0002308", - "HP:0031689", - "HP:0011800", - "HP:0000089", - "HP:0410049" + "HP:0009944", + "HP:0000957", + "HP:0000815", + "HP:0000075", + "HP:0000581", + "HP:0000316", + "HP:0000104", + "HP:0003974", + "HP:0000028", + "HP:0001876", + "HP:0001873", + "HP:0003221", + "HP:0001000", + "HP:0000978", + "HP:0001903", + "HP:0001909", + "HP:0001274", + "HP:0003214", + "HP:0003213", + "HP:0001017", + "HP:0009778", + "HP:0000125", + "HP:0001896", + "HP:0000601", + "HP:0000568", + "HP:0010035", + "HP:0002032", + "HP:0002079", + "HP:0000054", + "HP:0009943", + "HP:0005528", + "HP:0001643", + "HP:0000081", + "HP:0000085", + "HP:0004322", + "HP:0000365", + "HP:0000486", + "HP:0001177", + "HP:0001518" ], "has_phenotype_label": [ + "Attention deficit hyperactivity disorder", + "Ectopic kidney", + "Neutropenia", + "Tracheoesophageal fistula", "Absent thumb", + "Annular pancreas", + "Intellectual disability", + "Hydrocephalus", + "Abnormal heart morphology", + "Low-set ears", "Microcephaly", - "Duodenal atresia", - "Hypoplasia of the radius", - "Myelodysplasia", - "Ventriculomegaly", - "Growth delay", - "Intrauterine growth retardation", - "Polysplenia", - "Decreased response to growth hormone stimulation test", - "Abnormal periventricular white matter morphology", - "Chiari malformation", - "Megakaryocyte dysplasia", - "Midface retrusion", - "Renal hypoplasia", - "Abnormal radial ray morphology" + "Partial duplication of thumb phalanx", + "Cafe-au-lait spot", + "Hypergonadotropic hypogonadism", + "Renal duplication", + "Blepharophimosis", + "Hypertelorism", + "Renal agenesis", + "Absent radius", + "Cryptorchidism", + "Pancytopenia", + "Thrombocytopenia", + "Chromosomal breakage induced by crosslinking agents", + "Abnormality of skin pigmentation", + "Bruising susceptibility", + "Anemia", + "Leukemia", + "Agenesis of corpus callosum", + "Prolonged G2 phase of cell cycle", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "Anemic pallor", + "Short thumb", + "Pelvic kidney", + "Reticulocytopenia", + "Hypotelorism", + "Microphthalmia", + "Aplasia of the 1st metacarpal", + "Esophageal atresia", + "Hypoplasia of the corpus callosum", + "Micropenis", + "Complete duplication of thumb phalanx", + "Bone marrow hypocellularity", + "Patent ductus arteriosus", + "Duplicated collecting system", + "Horseshoe kidney", + "Short stature", + "Hearing impairment", + "Strabismus", + "Preaxial hand polydactyly", + "Small for gestational age" ], "has_phenotype_closure": [ - 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"HP:0002818", - "UPHENO:0086956", - "UPHENO:0012541", - "HP:0007367", - "HP:0002863", - "UPHENO:0081562", - "HP:0004377", - "UPHENO:0075772", - "HP:0001511", - "UPHENO:0000543", - "HP:0002118", - "HP:0001743", - "UPHENO:0065599", - "HP:0012718", - "UPHENO:0088047", - "UPHENO:0079876", - "HP:0002119", - "UPHENO:0001440", - "UPHENO:0000541", - "UPHENO:0005642", - "HP:0002244", - "HP:0001510", - "UPHENO:0002844", - "UPHENO:0049587", - "HP:0031071", - "UPHENO:0077890", - "HP:0002597", - "UPHENO:0049874", - "UPHENO:0056059", - "UPHENO:0080382", - "UPHENO:0080377", - "HP:0000309", - "UPHENO:0085144", + "UBERON:0011676", + "HP:0001172", + "UPHENO:0001001", + "HP:0002817", + "UPHENO:0085068", + "UBERON:0004708", + "HP:0040072", + "CL:0000094", + "UBERON:0010912", + "HP:0012090", "UPHENO:0050108", - "UPHENO:0078743", - "HP:0008678", - "UPHENO:0052178", - "UPHENO:0081792", + "HP:0100543", + "UBERON:0002097", + "HP:0011927", + "GO:0050877", + "UBERON:0015025", + "HP:0002011", + "UPHENO:0046707", + "UPHENO:0074575", + "UPHENO:0056212", + "HP:0007018", + "HP:0012759", + "HP:0002118", + "UPHENO:0014240", + "HP:0000356", "UPHENO:0005597", - 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"UPHENO:0049647", - "HP:0002060", - "HP:0000824", - "UPHENO:0051763", - "UPHENO:0001072", - "UPHENO:0076812", - "UPHENO:0077887", - "UPHENO:0080588", - "UPHENO:0087427", - "UPHENO:0002332", - "UPHENO:0087516", - "UPHENO:0081628", - "HP:0000077", - "UPHENO:0002905", - "UPHENO:0004618", - "UPHENO:0046284", - "UPHENO:0049927", - "UPHENO:0077873", - "UPHENO:0075995" + "UPHENO:0086391", + "GO:0071704", + "UPHENO:0082301", + "UPHENO:0021800", + "UBERON:0010741", + "CL:0000000", + "UBERON:0012358", + "UPHENO:0086956", + "UPHENO:0041561", + "UBERON:5101463", + "UPHENO:0081095", + "HP:0001873", + "UBERON:0010314", + "HP:0004275", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UPHENO:0082128", + "HP:0040070", + "UPHENO:0078729", + "UBERON:0000463", + "UBERON:0015063", + "UPHENO:0002751", + "HP:0009142", + "UBERON:0004535", + "UBERON:0002495", + "UPHENO:0005651", + "UPHENO:0076718", + "HP:0001161", + "HP:0011017", + "NCBITaxon:33208", + "UBERON:0012151", + "UPHENO:0075655", + "UBERON:5102389", + "UBERON:5106048", + "UPHENO:0021561", + "UBERON:0002405", + "UBERON:0003606", + "UBERON:0015024", + "GO:0006725", + "UPHENO:0087501", + "UPHENO:0009341", + "UPHENO:0079872", + "HP:0011276", + "GO:0010605", + "UBERON:0005897", + "UPHENO:0000541", + "GO:0010468", + "UBERON:0001436", + "UPHENO:0085076", + "GO:0043473", + "UBERON:0002416", + "HP:0033127", + "HP:0007400", + "UPHENO:0074589", + "UPHENO:0080221", + "RO:0002577", + "HP:0000951", + "HP:0011121", + "UBERON:0000481", + "HP:0000957", + "HP:0001034", + "HP:0000002", + "UPHENO:0076740", + "HP:0000953", + "UBERON:0003460", + "HP:0012733", + "HP:0001903", + "UPHENO:0004459", + "UPHENO:0003116", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "HP:0011028", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UBERON:0000990", + "HP:0008373" ], "has_phenotype_closure_label": [ - "Abnormal radial ray morphology", - "Renal hypoplasia", - "abnormal kidney morphology", - "Abnormality of the urinary system", - "Abnormality of the upper urinary tract", - "Renal hypoplasia/aplasia", - "abnormal size of kidney", - "abnormal renal system", - "abnormal upper urinary tract", - "decreased size of the kidney", - "abnormal renal system morphology", - "Abnormality of the face", - "abnormal midface morphology", - "anatomical entity hypoplasia in face", - "abnormal face", - "abnormal bone marrow cell", - "Abnormal megakaryocyte morphology", - "Midface retrusion", - "abnormal bone marrow cell morphology", - "abnormal cell", - "abnormal megakaryocyte morphology", - "Megakaryocyte dysplasia", - "abnormal cerebellum morphology", - "abnormally formed anatomical entity in independent continuant", - "Abnormal hindbrain morphology", - "Cerebellar malformation", - "abnormally formed anatomical entity", - "Abnormal cerebellum morphology", + "abnormality of multicellular organism mass", + "Decreased multicellular organism mass", + "abnormally increased number of manual digit in the manus", + "abnormally increased number of digit in the appendage girdle complex", + "abnormally increased number of digit in the limb", + "abnormally increased number of anatomical entity in the appendage girdle complex", + "abnormally increased number of anatomical entity in the limb", + "body part movement", + "eye movement", + "decreased sensory perception of sound", + "sensory perception of sound", + "abnormal size of multicellular organism", + "Preaxial polydactyly", + "abnormal growth", + "abnormality of multicellular organism height", + "Short stature", + "delayed biological_process", + "decreased height of the multicellular organism", + "Abnormality of eye movement", + "concave 3-D shape anatomical entity", + "3-D shape anatomical entity", + "Horseshoe kidney", + "abnormal eye movement", + "abnormal artery morphology in the independent continuant", + "heart vasculature", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "abnormal blood vessel morphology", + "trunk blood vessel", + "conceptus", + "abnormal systemic artery morphology", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "Abnormal blood vessel morphology", + "abnormal great vessel of heart morphology", + "blood vasculature", + "abnormal sensory perception", + "arterial system", + "abnormal anatomical entity morphology in the heart", + "Bone marrow hypocellularity", + "decreased size of the external male genitalia", + "abnormal penis morphology", + "Hypoplastic male external genitalia", + "Hypoplasia of penis", + "abnormal external male genitalia morphology", + "abnormal penis", + "External genital hypoplasia", + "Abnormal penis morphology", + "Hypoplasia of the corpus callosum", + "abnormal size of corpus callosum", + "corpus callosum hypoplasia", + "anatomical entity atresia", + "Esophageal atresia", + "esophagus atresia", + "manual digit 1 metacarpus endochondral element", + "decreased size of the penis", + "Aplasia/Hypoplasia involving the metacarpal bones", + "aplasia or hypoplasia of manual digit 1 phalanx", + "aplasia or hypoplasia of metacarpal bone of digit 1", + "manual digit metacarpus endochondral element", + "absent metacarpal bone in the metacarpus region", + "Abnormal metacarpal morphology", + "Aplasia/Hypoplasia of the phalanges of the hand", + "Aplasia/Hypoplasia of the 1st metacarpal", + "proximal phalanx of manus", + "absent metacarpal bone in the independent continuant", + "abnormal proximal phalanx of manus morphology", + "aplastic metacarpal bone of digit 1", + "systemic artery", + "aplasia or hypoplasia of metacarpal bone", + "abnormal size of eyeball of camera-type eye", + "decreased size of the eyeball of camera-type eye", + "abnormal metacarpal bone of digit 1 morphology", + "enucleated reticulocyte", + "Reticulocytopenia", + "reticulocyte", + "abnormal enucleated reticulocyte morphology", + "Pelvic kidney", + "aplasia or hypoplasia of proximal phalanx of manus", + "Short finger", + "decreased length of manual digit", + "Short thumb", + "aplastic phalanx of manus", + "decreased size of the anatomical entity in the pectoral complex", + "Anemic pallor", + "abnormal cellular response to stress", + "abnormal DNA repair", + "DNA repair", + "response to stress", + "delayed growth", + "abnormal DNA damage response", + "abnormal response to stress", + "Abnormality of the cell cycle", + "G2 phase", + "cell cycle process", + "Abnormal cerebral subcortex morphology", + "metacarpus region", + "Thin corpus callosum", + "aplasia or hypoplasia of phalanx of manus", + "white matter", "abnormal cerebral hemisphere white matter morphology", - "Abnormal periventricular white matter morphology", - "Atrophy/Degeneration affecting the central nervous system", - "anatomical entity degeneration", - "Leukoencephalopathy", - "anatomical entity degeneration in independent continuant", - "cerebral hemisphere white matter degeneration", + "central nervous system cell part cluster", + "multi cell part structure", + "brain commissure", + "abnormal number of anatomical enitites of type corpus callosum", + "abnormal cerebral hemisphere morphology", + "commissure of telencephalon", + "neuron projection bundle", + "absent anatomical entity in the brain", + "corpus callosum", + "intercerebral commissure", + "nervous system commissure", + "Hematological neoplasm", + "abnormal erythrocyte morphology", + "vasculature", + "abnormality of cardiovascular system physiology", + "Bruising susceptibility", + "Abnormal bleeding", + "Generalized abnormality of skin", + "Internal hemorrhage", + "Cerebral white matter hypoplasia", + "Abnormality of blood circulation", + "Vascular skin abnormality", + "blood circulation", + "Abnormality of the vasculature", + "cellular response to stimulus", + "Chromosomal breakage induced by crosslinking agents", + "Chromosome breakage", + "absent anatomical entity in the nervous system", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "Duplicated collecting system", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "intromittent organ", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "abnormal primary metabolic process", + "Abnormality of metabolism/homeostasis", + "regulation of biosynthetic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal DNA metabolic process", + "abnormal metabolic process", + "abnormal chromatin organization", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "abnormal vascular system morphology", + "negative regulation of macromolecule biosynthetic process", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "metabolic process", + "cerebral hemisphere white matter", + "cellular process", + "oxygen accumulating cell", + "bone cell", + "anucleate cell", + "abnormal cellular process", + "secretory cell", + "abnormal hematopoietic system morphology", + "Abnormality of bone marrow cell morphology", + "erythrocyte", + "Abnormality of thrombocytes", + "Abnormal platelet count", + "sperm", + "germ line cell", + "haploid cell", + "sensory perception", + "brain white matter", + "abnormal developmental process", "Abnormal cerebral white matter morphology", - "abnormal neuroendocrine gland morphology", - "abnormal role blood level", - "Abnormal growth hormone level", - "Abnormality of the kidney", - "decreased biological_process in pituitary gland", - "abnormal diencephalon morphology", - "abnormal hormone independent continuant level", - "decreased biological_process in multicellular organism", - "Abnormality of the anterior pituitary", - "Duodenal atresia", - "anatomical entity hypoplasia in independent continuant", - "Decreased response to growth hormone stimulation test", - "Abnormal duodenum morphology", - "abnormal digestive system", - "Aplasia/Hypoplasia of the radius", - "Abnormality of the gastrointestinal tract", - "Abnormal cell morphology", - "phenotype", - "abnormal hindbrain morphology", - "abnormal cerebral subcortex morphology", - "abnormal brain white matter morphology", - "absent digit", - "abnormal alimentary part of gastrointestinal system morphology", - "Gastrointestinal atresia", - "duodenum atresia", - "abnormal forelimb zeugopod bone", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "changed developmental process rate", - "Abnormality of the digestive system", - "abnormal closing of the anatomical entity", - "Abnormality of the nervous system", - "abnormal biological_process in independent continuant", - "abnormal kidney", - "abnormal central nervous system morphology", - "abnormal long bone morphology", - "Neoplasm", - "malformed anatomical entity", - "Morphological central nervous system abnormality", - "Abnormality of brain morphology", - "Aplasia/Hypoplasia of the cerebrum", - "Abnormal metencephalon morphology", - "abnormal secretion by cell", - "Abnormal skull morphology", - "decreased embryo development", - "abnormal brain morphology", - "abnormal hypothalamus-pituitary axis", - "aplasia or hypoplasia of telencephalon", - "abnormal manual digit morphology in the manus", - "forelimb zeugopod bone hypoplasia", - "Decreased head circumference", - "Abnormal axial skeleton morphology", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal skeletal morphology", - "decreased size of the anatomical entity in the pectoral complex", - "abnormal size of anatomical entity", - "abnormal axial skeleton plus cranial skeleton morphology", - "abnormal skeletal system", - "Abnormality of the skeletal system", - "Abnormal midface morphology", - "abnormally formed cerebellum", - "absent anatomical entity in the limb", - "abnormal metencephalon morphology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", + "abnormal number of anatomical enitites of type reticulocyte", + "decreased developmental process", + "arterial blood vessel", + "decreased spermatogenesis", + "abnormal male reproductive system", + "abnormal testis morphology", + "male germ cell", + "Aplasia/Hypoplasia affecting the eye", + "anatomical cluster", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "artery", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "platelet", + "absent sperm in the independent continuant", + "metapodial skeleton", + "Abnormal male reproductive system physiology", + "interphase", + "semen", + "absent gamete", + "Aplasia/Hypoplasia of the phalanges of the thumb", + "male gamete generation", + "abnormal reproductive system morphology", + "external genitalia", + "reproductive process", + "regulation of macromolecule metabolic process", + "abnormal reproductive process", + "Abnormal renal collecting system morphology", + "Aplasia of the proximal phalanges of the hand", + "decreased qualitatively developmental process", + "decreased qualitatively reproductive process", + "Abnormal testis morphology", + "abnormal male reproductive system morphology", + "abnormal blood circulation", + "arm bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", + "Aplasia involving bones of the upper limbs", + "3-D shape anatomical entity in independent continuant", + "Abnormal cellular physiology", + "absent anatomical entity in the skeletal system", + "abnormal erythroid lineage cell morphology", + "Abnormal morphology of the radius", + "absent radius bone in the forelimb", + "absent forelimb zeugopod bone", "Abnormal forearm bone morphology", - "abnormal telencephalon morphology", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Small for gestational age", + "abnormal artery morphology", + "Abnormal forearm morphology", + "zeugopod", + "metapodium region", + "Aplasia/hypoplasia involving forearm bones", + "aplastic forelimb zeugopod bone", + "forelimb zeugopod", + "Abnormal cardiovascular system physiology", + "Aplasia/Hypoplasia of the radius", + "Aplasia/Hypoplasia of the proximal phalanges of the hand", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "absent kidney", + "Renal hypoplasia/aplasia", + "absent anatomical entity in the renal system", + "immaterial anatomical entity", + "Strabismus", + "Abnormality of globe location", + "Abnormality of the eye", + "anatomical line", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", + "abnormal location of eyeball of camera-type eye", + "Abnormal eye morphology", + "Hypertelorism", + "Abnormal proximal phalanx morphology of the hand", + "erythroid lineage cell", + "non-material anatomical boundary", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", "decreased size of the anatomical entity in the independent continuant", - "abnormal manus morphology", - "abnormal manual digit morphology in the independent continuant", - "aplasia or hypoplasia of anatomical entity", - "abnormal anatomical entity morphology in the pectoral complex", - "Abnormality of digestive system morphology", - "abnormal limb", - "abnormal developmental process", - "Polysplenia", - "Abnormal appendicular skeleton morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", - "abnormality of endocrine system physiology", - "Abnormal finger morphology", - "abnormal craniocervical region morphology", - "continuant", - "abnormal embryo development", + "abnormal camera-type eye morphology", + "orbital region", + "decreased width of the anatomical entity", + "Abnormality of the face", + "Narrow palpebral fissure", + "palpebral fissure", + "Abnormal reticulocyte morphology", + "decreased length of anatomical entity in independent continuant", + "Congenital malformation of the great arteries", + "Abnormality of the ocular adnexa", + "aplastic manual digit 1 phalanx", + "Blepharophimosis", + "Abnormality of the orbital region", + "simple eye", + "Abnormality of the palpebral fissures", + "Deficient excision of UV-induced pyrimidine dimers in DNA", + "abnormal size of palpebral fissure", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "cerebral subcortex", + "Abnormal size of the palpebral fissures", + "abnormal face morphology", + "thoracic segment blood vessel", + "Hypotelorism", + "ocular adnexa", + "camera-type eye", + "Abnormal ocular adnexa morphology", + "abnormal anatomical entity length", + "abnormal skeletal system morphology", + "segment of manus", + "arm", + "endochondral bone", + "subdivision of skeleton", + "appendicular skeletal system", + "Localized skin lesion", + "aplasia or hypoplasia of skeleton", + "abnormal craniocervical region", + "Subcutaneous hemorrhage", + "Abnormal ear morphology", + "abnormal autopod region morphology", + "Absent thumb", + "abnormal bone marrow cell morphology", + "bone of free limb or fin", + "skeleton", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "skeletal system", + "metapodium bone 1", + "motile cell", + "Abnormal skeletal morphology", + "abnormally increased number of manual digit 1 in the manus", "Abnormality of limb bone morphology", - "Hypopituitarism", "Abnormality of limbs", - "abnormal brain ventricle/choroid plexus morphology", - "aplastic anatomical entity", - "abnormal vasculature", + "decreased width of the palpebral fissure", + "Abnormal appendicular skeleton morphology", + "behavior", + "growth", "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal chemical entity level", - "abnormal spleen morphology", - "Abnormality of the musculoskeletal system", - "Neurodegeneration", - "agenesis of anatomical entity", - "decreased developmental process", - "abnormal endocrine system morphology", - "All", - "Abnormal upper limb bone morphology", - "Abnormal cerebral ventricle morphology", - "decreased qualitatively biological_process", - "absent anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", + "abnormal digit", + "thoracic segment of trunk", + "Short palpebral fissure", + "acropodium region", + "increased size of the anatomical entity", + "limb", + "cell", + "bone of appendage girdle complex", + "anatomical wall", + "serotonin secreting cell", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal bone marrow morphology", + "lower respiratory tract", + "Abnormal granulocyte morphology", + "cardiovascular system", + "proximal phalanx", "abnormal anatomical entity morphology in the manus", - "abnormal forelimb morphology", - "abnormal small intestine", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "abnormal forebrain morphology", - "changed biological_process rate", - "abnormal pituitary gland morphology", - "Growth abnormality", - "abnormal cellular process", - "Abnormality of skull size", - "Abnormality of head or neck", - "abnormal limb morphology", - "Aplasia/hypoplasia involving the skeleton", - "Hypoplasia of the radius", - "abnormal gland morphology", + "proximo-distal subdivision of respiratory tract", + "bone marrow", + "Intellectual disability", + "decreased anatomical entity mass", + "Abnormality of the digestive system", + "Polydactyly", + "abnormal tracheobronchial tree morphology", + "Abnormality of the respiratory system", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "acropodial skeleton", + "Decreased anatomical entity mass", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Abnormal tracheobronchial morphology", + "Abnormality of DNA repair", + "abnormal organelle organization", + "abnormal respiratory system morphology", + "viscus", + "Azoospermia", + "abnormal granulocyte morphology", + "Aplasia/hypoplasia of the extremities", + "Agenesis of corpus callosum", + "abnormally decreased functionality of the anatomical entity", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "thoracic segment organ", + "subdivision of digestive tract", + "respiratory airway", + "nucleate cell", + "penis", + "digestive system element", + "Preaxial hand polydactyly", + "paired limb/fin", + "programmed DNA elimination", + "obsolete cell", + "internal male genitalia", + "digestive system", + "Abnormal platelet morphology", + "Abnormal leukocyte morphology", + "abnormal ear", + "Low-set ears", "Morphological abnormality of the gastrointestinal tract", - "decreased qualitatively biological_process in central nervous system", - "abnormal cerebral hemisphere morphology", + "Duplication of phalanx of hand", + "negative regulation of cellular process", + "abnormal limb", + "abnormal eyelid morphology", + "manus", + "Renal agenesis", + "abnormal respiratory system", + "Abnormality of cardiovascular system morphology", + "Pallor", + "absent radius bone", + "orifice", + "abnormal bone of pectoral complex morphology", + "thoracic cavity element", + "regulation of macromolecule biosynthetic process", + "Thrombocytopenia", + "multicellular organism", + "hematopoietic system", + "abnormal coronary vessel morphology", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "tracheobronchial tree", + "system", + "subdivision of tube", + "increased length of the anatomical line between pupils", + "multi organ part structure", + "Abnormal erythrocyte morphology", + "Abnormal finger morphology", + "Hypergonadotropic hypogonadism", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "cellular metabolic process", + "Abnormality of neutrophils", + "Abnormal myeloid leukocyte morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "abnormal neutrophil", + "ectoderm-derived structure", + "neutrophil", + "digitopodium region", + "great vessel of heart", + "abnormal myeloid cell morphology", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "circulatory system process", + "Abnormal leukocyte count", + "cavitated compound organ", + "Abnormal cellular immune system morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal brain morphology", "alimentary part of gastrointestinal system atresia", - "abnormal adenohypophysis", + "respiratory tract", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "Abnormal vascular morphology", + "abnormal arm", + "renal system", + "forelimb zeugopod bone", + "nervous system", + "absent digit", + "Abnormality of the gastrointestinal tract", + "phenotype", + "Abnormal cell morphology", + "abnormal digestive system morphology", + "abnormal forelimb morphology", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "absent kidney in the renal system", + "Hypermelanotic macule", + "Abnormal esophagus morphology", + "outflow tract", + "blood vessel", + "Hyperactivity", + "abnormal platelet morphology", + "digit 1", + "face", + "aplasia or hypoplasia of manual digit", + "decreased qualitatively sensory perception of sound", + "abnormal anatomical entity topology in independent continuant", + "upper digestive tract", + "anatomical system", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "metacarpal bone", + "abnormal male reproductive organ morphology", + "occurrent", + "material anatomical entity", + "Abnormality of mental function", + "abnormal cardiovascular system morphology", + "abnormal phalanx of manus morphology", + "Growth delay", + "abnormal biological_process", + "kidney", + "regional part of nervous system", + "Abnormality of body height", + "tube", + "abnormally localised anatomical entity in independent continuant", + "radius endochondral element", + "abnormal behavior", + "Abnormal cellular phenotype", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Micropenis", + "Abnormal hand morphology", + "Metazoa", + "abnormality of anatomical entity physiology", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "gamete generation", + "protein-containing material entity", + "abnormally decreased number of cell in the independent continuant", + "organ part", + "multicellular organismal process", + "abnormal limb morphology", + "anatomical conduit", + "genitourinary system", + "endocrine system", + "forelimb skeleton", + "Abnormal conjugate eye movement", + "anatomical entity hypoplasia", + "forelimb bone", + "non-connected functional system", "abnormal phenotype by ontology source", "absent manual digit", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal hand morphology", - "Neoplasm by anatomical site", - "absent anatomical entity in the independent continuant", - "abnormal small intestine morphology", - "Aplasia/hypoplasia involving bones of the hand", - "bone element hypoplasia in independent continuant", - "Myelodysplasia", - "Abnormal nervous system morphology", - "abnormal limb bone", - "increased size of the anatomical entity", + "abnormal closing of the anatomical entity", + "aplasia or hypoplasia of corpus callosum", + "abnormal response to stimulus", + "abnormal incomplete closing of the anatomical entity", + "abnormal alimentary part of gastrointestinal system morphology", + "Hearing abnormality", + "abnormal esophagus morphology", + "entity", + "decreased length of anatomical entity", + "bone of pectoral complex", + "shape kidney", + "negative regulation of metabolic process", + "developmental process", + "manual digit 1 or 5", + "Tracheoesophageal fistula", + "Neoplasm", + "abnormal hematopoietic system", + "Aplasia/Hypoplasia of the thumb", + "male reproductive organ", + "abnormal cell", + "disconnected anatomical group", + "hematopoietic cell", + "protein-DNA complex organization", + "vestibulo-auditory system", + "abnormally localised anatomical entity", + "abnormal gamete generation", + "leukocyte", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "abnormal renal system", + "Abnormality of the upper urinary tract", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", + "axon tract", + "abnormal upper urinary tract", + "abnormal cellular metabolic process", + "musculoskeletal system", + "abnormal anatomical entity", + "abnormal immune system", + "aplastic manual digit 1", + "pigmentation", + "Abnormal finger phalanx morphology", + "Abnormal eye physiology", + "segment of autopod", + "manual digitopodium bone", + "reproductive system", + "anatomical line between pupils", + "independent continuant", + "abnormal leukocyte morphology", + "renal collecting system", + "Ectopic kidney", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "behavior process", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "cleft anatomical entity in independent continuant", + "quality", + "Reduced impulse control", + "nucleobase-containing compound metabolic process", + "Short attention span", + "U-shaped anatomical entity", + "abnormal location of external ear", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "Atypical behavior", + "Abnormality of the kidney", + "phalanx endochondral element", + "abnormal ocular adnexa morphology", + "phenotype by ontology source", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "specifically dependent continuant", + "Abnormal cerebral morphology", + "digestive tract", + "vessel", + "DNA damage response", + "lateral structure", + "abnormal dorsal telencephalic commissure morphology", + "abnormal renal system morphology", + "alimentary part of gastrointestinal system", + "abnormal postcranial axial skeleton morphology", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", + "biological_process", + "myeloid leukocyte", + "Abnormal localization of kidney", + "abnormal external genitalia", "Abnormal renal morphology", + "decreased multicellular organism mass", "Aplasia/Hypoplasia involving the central nervous system", - "abnormal duodenum morphology", - "Phenotypic abnormality", - "increased size of the anatomical entity in independent continuant", - "changed biological_process rate in brain", - "quality", + "continuant", + "systemic arterial system", + "absent radius bone in the independent continuant", + "entire sense organ system", + "abnormal multicellular organismal reproductive process", + "manual digit", + "abdomen element", + "dorsal telencephalic commissure", + "abnormal brain commissure morphology", + "abnormal vasculature", + "changed developmental process rate", + "abnormal genitourinary system", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "abnormal blood cell", + "Complete duplication of thumb phalanx", + "abnormal forelimb zeugopod bone", + "manual digit 1 phalanx", + "decreased length of palpebral fissure", + "abnormal digestive system", + "Attention deficit hyperactivity disorder", + "Aplasia of the 1st metacarpal", + "Partial absence of thumb", + "Macule", + "abnormally increased number of manual digit in the independent continuant", + "excretory system", + "bone marrow cell", + "circulatory system", + "endoderm-derived structure", + "trunk region element", + "cell cycle", + "pectoral complex", + "abnormal kidney morphology", + "main body axis", + "biological regulation", + "abdominal segment of trunk", + "abdominal segment element", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "transudate", + "abnormal central nervous system morphology", + "abnormality of male reproductive system physiology", + "abnormally localised kidney", + "abnormal renal collecting system", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal number of anatomical enitites of type granulocyte", + "abnormal behavior process", + "Aplasia/hypoplasia involving bones of the hand", + "regulation of gene expression", + "respiratory system", + "manual digit 1 digitopodial skeleton", + "pectoral appendage", + "body proper", + "abnormal nervous system", + "abnormal manus morphology", + "Prolonged G2 phase of cell cycle", + "abnormal blood cell morphology", + "pectoral appendage skeleton", + "granulocyte", + "Complete duplication of phalanx of hand", + "limb bone", + "Abnormality of digestive system morphology", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "embryonic cardiovascular system", + "organism subdivision", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "abnormality of nervous system physiology", + "Reduced attention regulation", "abnormal limb bone morphology", - "entity", - "aplasia or hypoplasia of manual digit 1", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal digit morphology", - "Abnormal forebrain morphology", - "abnormal manus", - "abnormal size of skull", - "abnormal hormone blood level", - "abnormal digestive system morphology", - "kidney hypoplasia", + "abnormal shape of external ear", + "abnormally decreased number of cell", + "abnormal myeloid leukocyte morphology", + "hemolymphoid system", + "esophagus", + "Abnormal location of ears", + "response to stimulus", + "Abnormal eyelid morphology", + "abnormally decreased number of granulocyte", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "external male genitalia", + "shape long bone", + "abnormal number of anatomical enitites of type anatomical entity", "Finger aplasia", - "abnormal localization", - "abnormal skull morphology", - "Anterior hypopituitarism", + "abnormal number of anatomical enitites of type leukocyte", + "absent sperm", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "abnormal immune system morphology", + "shape phalanx of manus", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "biological phase", + "autopod bone", + "mesoderm-derived structure", + "U-shaped kidney", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormally decreased number of reticulocyte", + "Abnormal tracheal morphology", + "upper limb segment", + "cellular response to stress", + "appendicular skeleton", + "manual digit 1 plus metapodial segment", + "abdomen", + "abnormal hematopoietic cell morphology", + "bone element", + "abnormally increased number of manual digit 1 in the independent continuant", + "abnormality of camera-type eye physiology", + "immune system", + "Leukemia", + "abnormal cell morphology", + "abnormal nervous system morphology", + "blood cell", + "Abnormality of the genitourinary system", + "Abnormality of the cardiovascular system", + "white matter of forebrain", + "forebrain", + "abnormally decreased number of hematopoietic cell", + "subdivision of trunk", "Abnormal thumb morphology", - "abnormal nervous system", - "abnormal secretion in independent continuant", - "decreased secretion in pituitary gland", - "Abnormal cerebral subcortex morphology", - "abnormal head morphology", - "Abnormal morphology of the radius", + "decreased length of digit", + "Abnormality of the male genitalia", + "manual digitopodium region", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "Abnormal respiratory system morphology", + "Abnormal granulocyte count", + "Abnormal corpus callosum morphology", + "organism", + "biogenic amine secreting cell", + "trachea", + "Abnormality of the skeletal system", + "absent kidney in the independent continuant", + "subdivision of skeletal system", + "abnormally decreased number of neutrophil", + "eye", + "compound organ", + "limb long bone", + "abnormally decreased number of myeloid cell", + "Aplasia/Hypoplasia of fingers", + "skeleton of pectoral complex", + "aplastic anatomical entity", + "decreased length of manual digit 1", + "anterior region of body", "Abnormal digit morphology", - "abnormal hematopoietic system morphology", - "midface hypoplasia", - "Abnormal intestine morphology", - "Abnormal pituitary gland morphology", - "Abnormal endocrine morphology", - "absent anatomical entity in the forelimb", - "abnormal arm", - "Chiari malformation", - "Abnormality of the head", - "Abnormal cerebral morphology", - "abnormal anatomical entity morphology", - "specifically dependent continuant", - "aplastic manual digit 1", - "abnormal intestine morphology", - "abnormal anatomical entity morphology in the brain", - "decreased biological_process", - "Aplasia/hypoplasia of the extremities", - "anatomical entity hypoplasia", - "Abnormal small intestine morphology", - "Abnormality of limb bone", - "Abnormality of the upper limb", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "head", + "Decreased body weight", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "Aplasia of metacarpal bones", + "abnormal face", + "digit", + "decreased size of the corpus callosum", + "Hyperpigmentation of the skin", + "abnormal skeletal system", + "digit 1 plus metapodial segment", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "paired limb/fin segment", + "endochondral element", + "multi-limb segment region", + "agenesis of anatomical entity", "absent anatomical entity in the multicellular organism", - "aplasia or hypoplasia of manual digit", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", + "appendage", + "root", + "digit plus metapodial segment", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "Hand polydactyly", + "aplasia or hypoplasia of manual digit 1", + "absent metacarpal bone", + "absent anatomical entity", + "manual digit phalanx endochondral element", + "Absent forearm bone", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal manual digit 1 morphology", + "Abnormal 1st metacarpal morphology", + "abnormal digit morphology", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "paired limb/fin skeleton", + "organelle organization", + "abnormal spermatogenesis", + "postcranial axial skeletal system", + "penis hypoplasia", + "limb endochondral element", + "autopodial skeleton", + "subdivision of organism along appendicular axis", + "skeletal element", + "skeleton of limb", + "Abnormality of skin pigmentation", + "skeleton of manus", + "cell cycle phase", + "Abnormal pancreas morphology", + "organ", + "abnormal pancreas morphology", + "Abnormality of the pancreas", + "abnormal integument", + "Annular pancreas", + "abnormal pancreas", + "cognition", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "ventricular system of brain", + "Cognitive impairment", + "Neurodevelopmental abnormality", + "system process", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", + "abnormally increased number of anatomical entity", + "Abnormality of brain morphology", + "Aplasia of the phalanges of the hand", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "cleft manual digit 1 phalanx", + "organism substance", + "abnormal brain white matter morphology", + "abnormal gamete", + "Abnormality of the outer ear", + "ventricular system of central nervous system", + "abnormal brain ventricle/choroid plexus morphology", + "Abnormality of the urinary system", + "pancreas", + "organ component layer", + "Morphological central nervous system abnormality", + "Hydrocephalus", + "male organism", "abnormal appendicular skeleton morphology", - "Absent thumb", - "abnormal autopod region morphology", - "abnormally increased number of spleen", - "Intestinal atresia", - "abnormal face morphology", - "Limb undergrowth", - "decreased length of long bone", - "delayed biological_process", - "Short forearm", + "Irregular hyperpigmentation", + "autopod endochondral element", + "Abnormality of limb bone", + "central nervous system", + "Abnormal morphology of the great vessels", + "manual digit bone", + "decreased length of anatomical line between pupils", + "ventricle of nervous system", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "limb skeleton subdivision", + "skull", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "eyeball of camera-type eye", + "brain ventricle", + "metacarpus skeleton", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal brain ventricle morphology", + "absent anatomical entity in the metacarpus region", + "cerebrospinal fluid", + "organic substance metabolic process", + "Abnormality of the head", + "heart", + "abnormal pigmentation", + "vasculature of trunk", + "heart plus pericardium", + "circulatory organ", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "abnormal head morphology", + "increased biological_process", + "abnormal external ear", + "sensory system", + "Abnormality of the abdominal organs", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "gonad", + "abnormal bone marrow cell", + "trunk", + "abnormal shape of continuant", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Abnormal neutrophil count", + "Decreased anatomical entity position", + "absent anatomical entity in the central nervous system", + "abnormal ear morphology", + "Microphthalmia", + "abnormal external ear morphology", + "postcranial axial skeleton", + "ear", + "abnormal craniocervical region morphology", + "Abnormality of chromosome stability", + "immaterial entity", + "anatomical entity dysfunction in independent continuant", + "eyelid", + "abnormally decreased number of leukocyte", + "Abnormality of the ear", + "Patent ductus arteriosus", + "Abnormal pinna morphology", + "Abnormality of head or neck", + "abnormal kidney", + "abnormal reproductive system", + "craniocervical region", + "aplasia or hypoplasia of radius bone", + "abnormal heart morphology", + "abnormal long bone morphology", + "Decreased external ear position", + "abnormal manual digit morphology in the independent continuant", + "shape anatomical entity in independent continuant", + "abnormal location of ear", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal size of anatomical entity", + "Abnormal axial skeleton morphology", + "bodily fluid", + "multi-tissue structure", + "abnormal forebrain morphology", + "forelimb", + "Abnormal forebrain morphology", + "negative regulation of cellular metabolic process", + "Eukaryota", + "kinesthetic behavior", + "Eumetazoa", + "abnormally decreased number of granulocyte in the independent continuant", + "Abnormal skull morphology", + "absent corpus callosum", + "Abnormality of the musculoskeletal system", + "Microcephaly", + "changed biological_process rate in independent continuant", + "Hearing impairment", + "abnormal metacarpal bone morphology", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "regional part of brain", + "Growth abnormality", + "axial skeletal system", + "abnormal palpebral fissure", + "abnormal skull morphology", + "reproductive organ", + "Abnormality of body weight", + "aplasia or hypoplasia of telencephalon", + "telencephalon", + "Decreased head circumference", + "external ear", + "abnormal telencephalon morphology", + "abnormality of anatomical entity mass", + "abnormal cell cycle", + "Duplication of thumb phalanx", + "abnormal phalanx morphology", + "absent sperm in the semen", + "absent anatomical entity in the limb", "Abnormal long bone morphology", - "Upper limb undergrowth", - "Aplasia/Hypoplasia of the thumb", - "abnormal size of brain ventricle", - "decreased size of the anatomical entity", - "Forearm undergrowth", - "Aplasia/hypoplasia involving forearm bones", - "decreased length of anatomical entity", - "abnormal growth hormone secretion", - "abnormal bone of pectoral complex morphology", + "shape anatomical entity in pectoral complex", + "increased biological_process in independent continuant", + "abnormal skin of body morphology", + "abnormal trachea morphology", + "abnormal anatomical entity morphology in the skeleton of manus", + "abnormally increased number of anatomical entity in the manus", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "Abnormality of male external genitalia", + "Partial duplication of thumb phalanx", + "shape limb long bone", + "abnormal nitrogen compound metabolic process", + "nervous system process", + "Duplication of hand bones", + "Renal duplication", + "Partial duplication of the phalanx of hand", + "Duplication of bones involving the upper extremities", + "increased anatomical entity length in independent continuant", + "shape forelimb bone", + "concave anatomical entity", + "decreased qualitatively sensory perception of mechanical stimulus", + "cleft anatomical entity", + "primary circulatory organ", + "skeleton of manual digitopodium", + "glandular system", + "manual digit digitopodial skeleton", + "shape manual digit 1 phalanx", + "digit 1 digitopodial skeleton", + "abnormal respiratory tube morphology", + "abnormal pigmentation in independent continuant", + "heart blood vessel", + "eukaryotic cell", "abnormal limb long bone morphology", + "Abnormality of thumb phalanx", + "Abnormality of globe size", + "abnormally decreased number of platelet", + "shape anatomical entity in manual digit 1", + "Short digit", + "skeleton of digitopodium", + "white matter of telencephalon", + "regulation of cellular metabolic process", + "individual digit of digitopodial skeleton", + "Anemia", + "radius bone", "Abnormality of the hand", - "Hematological neoplasm", - "decreased length of forelimb zeugopod bone", - "changed biological_process rate in independent continuant", - "Microcephaly", - "abnormal forelimb zeugopod morphology", - "decreased length of anatomical entity in independent continuant", - "aplasia or hypoplasia of radius bone", - "abnormal anatomical entity", - "Abnormal forearm morphology", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "abnormal hematopoietic system", - "Abnormality of blood and blood-forming tissues", - "abnormal brain ventricle morphology", - "increased size of the brain ventricle", - "Ventriculomegaly", - "abnormal role bodily fluid level", - "abnormal biological_process", - "Growth delay", - "Supernumerary spleens", - "abnormal growth", - "abnormal digit", - "abnormal development of anatomical entity", - "decreased qualitatively developmental process", - "abnormal bone marrow morphology", - "decreased biological_process in independent continuant", - "abnormal manual digit 1 morphology", - "Intrauterine growth retardation", - "changed embryo development rate", - "Abnormal spleen morphology", - "decreased qualitatively biological_process in independent continuant", - "abnormal radius bone morphology", - "abnormal hemopoietic organ morphology", - "abnormally increased number of anatomical entity", - "abnormal spleen", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "abnormal diencephalon", - "Abnormality of the abdominal organs", - "radius bone hypoplasia", - "Abnormality of the vasculature", - "delayed growth", - "abnormal cardiovascular system", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the lymphatic system", - "abnormal genitourinary system", - "abnormal lymphatic part of lymphoid system", - "abnormal immune system", - "Short long bone", - "abnormally increased number of anatomical entity in the abdomen", - "Abnormality of the genitourinary system", - "Abnormality of the cardiovascular system", - "Abnormality of the immune system", - "Abnormality of the spleen", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal immune system morphology", - "abnormal transport", + "manus bone", + "abnormal size of skull", + "forelimb long bone", + "metapodium bone", + "metacarpal bone of digit 1", + "skeleton of manual acropodium", + "digitopodium bone", + "vasculature of organ", + "phalanx", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "phalanx of manus", + "tissue", + "manual digit 1 phalanx endochondral element", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormally increased number of digit in the independent continuant", + "Abnormality of skin morphology", + "increased size of the anatomical entity in independent continuant", + "Abnormality of the integument", + "abnormal skin of body", + "integumental system", + "integument", + "sensory perception of mechanical stimulus", + "abnormally decreased number of anatomical entity", + "Abnormal upper limb bone morphology", + "skin of body", + "abnormally decreased number of anatomical entity in the independent continuant", + "abnormal anatomical entity morphology", + "increased pigmentation", + "Neutropenia", + "reproductive structure", + "increased length of the anatomical entity", + "Cafe-au-lait spot", + "Phenotypic abnormality", + "increased pigmentation in skin of body", + "increased pigmentation in independent continuant", + "decreased size of the anatomical entity", + "abnormal biological_process in independent continuant", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "tract of brain", + "male gamete", + "abnormally decreased functionality of the gonad", + "Abnormality of the genital system", "abnormal endocrine system", - "decreased growth hormone secretion", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "anatomical entity atresia", - "abnormality of anatomical entity physiology", - "abnormal multicellular organism chemical entity level", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal biological_process in central nervous system", - "decreased biological_process in brain", - "intestine atresia", - "Abnormal endocrine physiology", "Abnormality of the endocrine system", - "decreased secretion in independent continuant", - "Abnormality of bone marrow cell morphology", - "Abnormal response to endocrine stimulation test", - "Abnormality of the diencephalon", - "abnormal independent continuant chemical entity level", - "Abnormal circulating hormone concentration", - "abnormal role independent continuant level", - "phenotype by ontology source", - "abnormal endocrine gland morphology" + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "Abnormality of reproductive system physiology", + "Puberty and gonadal disorders" ], - "has_phenotype_count": 16, + "has_phenotype_count": 50, "highlight": null, "score": null }, { - "id": "MONDO:0011325", + "id": "MONDO:0013565", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group F", + "name": "Fanconi anemia complementation group G", "full_name": null, "deprecated": null, - "description": "Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.", - "xref": [ - "DOID:0111088", - "EFO:0009045", - "GARD:15355", - "NCIT:C125707", - "OMIM:603467" - ], - "provided_by": "phenio_nodes", - "in_taxon": null, - "in_taxon_label": null, - "symbol": null, - "synonym": [ - "FANCF", - "Fanconi Anemia, complementation group type F", - "Fanconi anaemia complementation group type F", - "Fanconi anemia complementation group F", - "Fanconi anemia complementation group type F", - "Fanconi anemia, complementation group F" - ], - "uri": null, - "iri": null, - "namespace": "MONDO", - "has_phenotype": [ - "HP:0009777", - "HP:0000960", - "HP:0002247", - "HP:0002984", - "HP:0000028", - "HP:0001631", - "HP:0009778", - "HP:0001873", - "HP:0000125", - "HP:0000405", - "HP:0000824", - "HP:0001511", - "HP:0008551", - "HP:0000750", - "HP:0001882", - "HP:0000252", - "HP:0000957", - "HP:0000568", - "HP:0002090", - "HP:0003221", - "HP:0000076", - "HP:0001643", - "HP:0005528", - "HP:0030260", - "HP:0000953", - "HP:0001328", - "HP:0001903", - "HP:0001508", - "HP:0001195", - "HP:0000089", - "HP:0001233", - "HP:0004322", - "HP:0001561", - "HP:0011419" - ], - "has_phenotype_label": [ - "Absent thumb", - "Sacral dimple", - "Duodenal atresia", - "Hypoplasia of the radius", - "Cryptorchidism", - "Atrial septal defect", - "Short thumb", - "Thrombocytopenia", - "Pelvic kidney", - "Conductive hearing impairment", - "Decreased response to growth hormone stimulation test", - "Intrauterine growth retardation", - "Microtia", - "Delayed speech and language development", - "Leukopenia", - "Microcephaly", - "Cafe-au-lait spot", - "Microphthalmia", - "Pneumonia", - "Chromosomal breakage induced by crosslinking agents", - "Vesicoureteral reflux", - "Patent ductus arteriosus", - "Bone marrow hypocellularity", - "Microphallus", - "Hyperpigmentation of the skin", - "Specific learning disability", - "Anemia", - "Failure to thrive", - "Single umbilical artery", - "Renal hypoplasia", - "2-3 finger syndactyly", - "Short stature", - "Polyhydramnios", - "Placental abruption" - ], - "has_phenotype_closure": [ - "UPHENO:0005170", - "HP:0011419", - "HP:0100767", - "HP:0001561", - "UPHENO:0080351", - "UPHENO:0075159", - "UPHENO:0080352", - "UPHENO:0081424", - "UPHENO:0081423", - "UPHENO:0078215", - "HP:0001159", - "UPHENO:0076747", - "HP:0004100", - "UPHENO:0078288", - "UPHENO:0078125", - "UPHENO:0069254", - "HP:0001233", - "UPHENO:0078307", - "UPHENO:0082671", - "UPHENO:0081210", - "UPHENO:0075182", - "HP:0008678", - "HP:0011403", - "HP:0001194", - "HP:0001195", - "UPHENO:0075949", - "HP:0010881", - "HP:0010948", - "UPHENO:0054299", - "UPHENO:0054261", - "UPHENO:0082794", - "UPHENO:0053208", - "UPHENO:0010795", - "HP:0001508", - "UPHENO:0082761", - "UPHENO:0088162", - "HP:0001877", - "HP:0001328", - "UPHENO:0087548", - "UPHENO:0003058", - "UPHENO:0069391", - "HP:0008736", - "HP:0000036", - "UPHENO:0081320", - "UPHENO:0063722", - "UPHENO:0085068", - 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"HP:0001155", - "UPHENO:0076783", - "HP:0011844", - "HP:0001167", - "UPHENO:0085875", - "UPHENO:0082875", - "HP:0011355", - "UPHENO:0008523", - "UPHENO:0087518", - "HP:0006496", - "UPHENO:0050008", - "UPHENO:0084766", - "UPHENO:0006910", - "UPHENO:0050034", - "UPHENO:0081095", - "HP:0001873", - "HP:0001034", - "UPHENO:0001003", - "UPHENO:0003055", - "UPHENO:0021474", - "UPHENO:0086201", - "UPHENO:0086023", + "description": "Fanconi anemia caused by mutations of the FANCG gene.", + "xref": ["DOID:0111086", "GARD:15753", "NCIT:C125708", "OMIM:614082"], + "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": [ + 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"UPHENO:0059829", + "UPHENO:0080221", + "UPHENO:0002635", + "UBERON:0004088", + "UPHENO:0060026", + "HP:0000957", + "HP:0001873", + "HP:0001034", "HP:0002011", - "UPHENO:0046707", "UPHENO:0074575", - "UPHENO:0049587", - "HP:0011747", - "HP:0009115", - "UPHENO:0004523", - "UPHENO:0002595", - "UPHENO:0079826", - "UPHENO:0077889", - "UPHENO:0050116", - "UPHENO:0076287", - "HP:0002060", + "HP:0007364", + "CL:0000094", + "UPHENO:0076739", + "HP:0001574", + "HP:0012733", + "UBERON:0000020", + "UBERON:0015212", + "NCBITaxon:33154", + "UBERON:0000970", + "UPHENO:0085189", + "HP:0000315", + "UPHENO:0077426", + "UPHENO:0075219", "HP:0012372", - "HP:0011452", - "UPHENO:0086735", - "UPHENO:0080221", - "HP:0032367", - "UPHENO:0087186", - "UPHENO:0081435", + "UBERON:0012140", + "HP:0100887", + "UPHENO:0001002", + "UPHENO:0087924", + "UBERON:0010230", + "HP:0011842", + "UPHENO:0075696", + "UBERON:0001444", + "UPHENO:0068971", + "UBERON:0002104", + "HP:0025461", + "UPHENO:0076805", + "UBERON:0000047", + "UPHENO:0069523", "UPHENO:0020888", + "GO:0008150", "UPHENO:0075997", - "UPHENO:0042775", - "HP:0000818", - "UPHENO:0075772", - "UPHENO:0074572", + "UPHENO:0012541" + ], + "has_phenotype_closure_label": [ + "Abnormal cellular physiology", + "Abnormality of metabolism/homeostasis", + "metabolic process", + "obsolete cell", + "oxygen accumulating cell", + "Abnormal erythrocyte morphology", + "abnormal erythroid lineage cell morphology", + "abnormal erythrocyte morphology", + "skeletal element", + "subdivision of organism along appendicular axis", + "limb endochondral element", + "system", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormal digit morphology", + "abnormal manual digit 1 morphology", + "abnormal manus", + "digit plus metapodial segment", + "abnormal limb bone morphology", + "multi-limb segment region", + "endochondral element", + "manual digit plus metapodial segment", + "digit 1 plus metapodial segment", + "pectoral complex", + "Abnormal digit morphology", + "limb skeleton subdivision", + "Abnormal finger morphology", + "arm", + "bone of appendage girdle complex", + "manual digit 1 plus metapodial segment", + "appendicular skeletal system", + "bone of free limb or fin", + "abnormal autopod region morphology", + "abnormal manual digit morphology in the independent continuant", + "segment of autopod", + "appendicular skeleton", + "upper limb segment", + "digit 1", + "paired limb/fin", + "abnormal limb morphology", + "Abnormality of limb bone morphology", + "abnormal forelimb morphology", + "manual digitopodium region", + "appendage girdle complex", + "Abnormality of limbs", + "Abnormal appendicular skeleton morphology", + "abnormal anatomical entity morphology in the manus", + "abnormal manus morphology", + "acropodium region", + "digitopodium region", + "forelimb", + "Abnormal skeletal morphology", + "erythroid lineage cell", + "Abnormal axial skeleton morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "abnormal digit", + "cellular organisms", + "Abnormal skull morphology", + "Abnormal leukocyte morphology", + "regional part of nervous system", + "forebrain", + "abnormal craniocervical region morphology", + "endochondral bone", + "subdivision of skeleton", + "skin of body", + "skull", + "Abnormality of the skeletal system", + "abnormally decreased number of neutrophil", + "Abnormal granulocyte count", + "decreased size of the anatomical entity", + "multi-tissue structure", + "Myelodysplasia", + "immune system", + "appendage", + "root", + "myeloid cell", + "hemolymphoid system", + "hematopoietic cell", + "Abnormality of the face", + "eukaryotic cell", + "integument", + "autopod region", + "organism", + "anatomical system", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "Abnormality of the hand", + "Hematological neoplasm", + "aplasia or hypoplasia of anatomical entity", + "Abnormality of the head", + "Abnormal forebrain morphology", + "Abnormality of the immune system", + "Thrombocytopenia", + "Eukaryota", + "Eumetazoa", + "abnormal cell", + "abnormally decreased number of cell", + "skeleton", + "neutrophil", + "Morphological central nervous system abnormality", + "Abnormal granulocyte morphology", + "Abnormal leukocyte count", + "abnormal myeloid leukocyte morphology", + "abnormal skull morphology", + "Abnormal platelet morphology", + "mesoderm-derived structure", + "abnormal head morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "abnormal number of anatomical enitites of type leukocyte", + "anterior region of body", + "abnormal size of eyeball of camera-type eye", + "abnormally decreased number of granulocyte", + "Neoplasm by anatomical site", + "quality", + "Abnormal cell morphology", + "phenotype", + "anatomical entity", + "Abnormality of the skin", + "anatomical structure", + "organism subdivision", + "abnormally decreased number of leukocyte in the independent continuant", + "abnormal hematopoietic cell morphology", + "bone element", + "abnormally decreased number of leukocyte", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "Abnormal neutrophil count", + "Abnormality of neutrophils", + "Abnormality of skull size", + "multicellular anatomical structure", + "skeletal system", + "motile cell", + "Abnormal thumb morphology", + "abnormally decreased number of hematopoietic cell", + "autopodial extension", + "abnormal face", + "manual digit 1 or 5", + "Neoplasm", + "abnormal number of anatomical enitites of type neutrophil", + "abnormal nervous system", + "Abnormal erythroid lineage cell morphology", + "leukocyte", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "material entity", + "Macule", + "Abnormal cellular phenotype", + "abnormal phenotype by ontology source", + "erythrocyte", + "organ system subdivision", + "abnormal blood cell", + "abnormal appendicular skeleton morphology", + "disconnected anatomical group", + "abnormal hematopoietic system", + "Abnormality of blood and blood-forming tissues", + "abnormal number of anatomical enitites of type cell", + "abnormally decreased number of anatomical entity", + "Abnormal immune system morphology", + "abnormal anatomical entity", + "abnormal immune system", + "abnormally decreased number of cell in the independent continuant", + "Neutropenia", + "nucleate cell", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "material anatomical entity", + "abnormal platelet morphology", + "Abnormal platelet count", + "serotonin secreting cell", + "Anemia", + "camera-type eye", + "Abnormality of thrombocytes", + "abnormal size of anatomical entity", + "abnormal number of anatomical enitites of type granulocyte", + "non-connected functional system", + "abnormally decreased number of granulocyte in the independent continuant", + "abnormal manual digit morphology in the manus", + "blood cell", + "digit", + "Hyperpigmentation of the skin", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "abnormal granulocyte morphology", + "abnormal craniocervical region", + "skeleton of limb", + "Abnormality of skin pigmentation", + "myeloid leukocyte", + "biological_process", + "phenotype by ontology source", + "abnormally decreased number of anatomical entity in the independent continuant", + "growth", + "anucleate cell", + "hematopoietic system", + "multicellular organism", + "Abnormality of the orbital region", + "Phenotypic abnormality", + "abnormal blood cell morphology", + "limb bone", + "granulocyte", + "abnormal number of anatomical enitites of type myeloid cell", + "abnormally decreased number of myeloid cell in the independent continuant", + "cranial skeletal system", + "specifically dependent continuant", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "segment of manus", + "protein-containing material entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "abnormally decreased number of myeloid cell", + "Abnormality of the musculoskeletal system", + "Abnormality of head or neck", + "structure with developmental contribution from neural crest", + "abnormal neutrophil", + "ectoderm-derived structure", + "manual digit", + "Abnormal eye morphology", + "central nervous system", + "regional part of brain", + "nervous system", + "abnormal orbital region", + "Growth abnormality", + "face", + "Abnormality of the eye", + "musculoskeletal system", + "Abnormality of the integument", + "abnormal skin of body", + "craniocervical region", + "Leukemia", + "entity", + "subdivision of skeletal system", + "axial skeletal system", + "abnormal camera-type eye morphology", + "decreased size of the eyeball of camera-type eye", + "Abnormality of skin morphology", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "Irregular hyperpigmentation", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", + "abnormal postcranial axial skeleton morphology", + "Aplasia/Hypoplasia affecting the eye", + "abnormal cell morphology", + "abnormal nervous system morphology", + "platelet", + "telencephalon", + "Abnormality of limb bone", + "head", + "Abnormal myeloid leukocyte morphology", + "abnormal head", + "subdivision of organism along main body axis", + "main body axis", + "axial skeleton plus cranial skeleton", + "Abnormality of the nervous system", + "Metazoa", + "abnormal size of skull", + "Decreased head circumference", + "delayed growth", + "abnormal telencephalon morphology", + "secretory cell", + "decreased size of the anatomical entity in the independent continuant", + "body proper", + "pectoral appendage", + "organ", + "occurrent", + "delayed biological_process", + "abnormal biological_process", + "Growth delay", + "independent continuant", + "abnormal leukocyte morphology", + "abnormal growth", + "abnormal number of anatomical enitites of type hematopoietic cell", + "process", + "abnormally decreased number of platelet", + "abnormal number of anatomical enitites of type platelet", + "abnormal platelet", + "Abnormal hand morphology", + "Localized skin lesion", + "abnormal myeloid cell morphology", + "increased biological_process", + "abnormal face morphology", + "integumental system", + "increased pigmentation", + "increased pigmentation in independent continuant", + "Abnormality of globe size", + "Microcephaly", + "changed biological_process rate in independent continuant", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "Cafe-au-lait spot", + "abnormal pigmentation in independent continuant", + "abnormal skin of body morphology", + "anatomical collection", + "All", + "increased qualitatively biological_process", + "Hypermelanotic macule", + "increased biological_process in independent continuant", + "Abnormality of the upper limb", + "cell", + "limb", + "increased pigmentation in skin of body", + "abnormal pigmentation", + "biogenic amine secreting cell", + "simple eye", + "abnormal eyeball of camera-type eye", + "lateral structure", + "abnormal integument", + "eyeball of camera-type eye", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "Multiple cafe-au-lait spots", + "abnormal skeletal system", + "Microphthalmia", + "orbital region", + "paired limb/fin segment", + "Opisthokonta", + "eye", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Abnormality of brain morphology", + "subdivision of head", + "continuant", + "entire sense organ system", + "abnormal anatomical entity morphology in the brain", + "visual system", + "pigmentation", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormal number of anatomical entities of type myeloid cell in independent continuant", + "abnormal arm", + "manus", + "abnormal limb", + "abnormal immune system morphology", + "manual digit 1" + ], + "has_phenotype_count": 11, + "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", + "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:0000957", + "HP:0002023", + "HP:0000252", + "HP:0004808", + "HP:0009778", + "HP:0005528", "HP:0001511", - "UPHENO:0000543", - "UPHENO:0051668", - "UPHENO:0087355", - "HP:0012243", - "UPHENO:0081547", - "UPHENO:0000541", - "UPHENO:0005642", - "HP:0001507", - "UPHENO:0080393", - "HP:0012145", - "HP:0040064", - "UPHENO:0080111", - "HP:0012759", - "UPHENO:0076730", - "UPHENO:0081119", - "UPHENO:0082129", - "UPHENO:0005986", - "HP:0000356", - "UPHENO:0085874", - "HP:0008772", - "UPHENO:0078278", - "UPHENO:0069196", - "UPHENO:0020659", - "UPHENO:0049990", - "UPHENO:0049622", - "UPHENO:0069110", - "UPHENO:0019890", - "UPHENO:0002263", - "UPHENO:0019970", - "UPHENO:0087309", - "UPHENO:0051804", - "HP:0002167", - "UPHENO:0080114", - "HP:0002463", - "HP:0000076", - "UPHENO:0049586", - "UPHENO:0002433", - "HP:0006101", - "HP:0012638", - "UPHENO:0087643", - "UPHENO:0002948", - "UPHENO:0050101", - "UPHENO:0088338", - "UPHENO:0075872", - "UPHENO:0035147", - "UPHENO:0078327", - "UPHENO:0087123", - "HP:0001631", - "UPHENO:0085410", - "UPHENO:0088319", - "UPHENO:0088321", - "HP:0002715", - "HP:0010460", - "UPHENO:0035025", - "HP:0005561", + "HP:0003221", + "HP:0001508", + "HP:0004322", + "HP:0006727" + ], + "has_phenotype_label": [ + "Cafe-au-lait spot", + "Anal atresia", + "Microcephaly", + "Acute myeloid leukemia", + "Short thumb", + "Bone marrow hypocellularity", + "Intrauterine growth retardation", + "Chromosomal breakage induced by crosslinking agents", + "Failure to thrive", + "Short stature", + "T-cell acute lymphoblastic leukemias" + ], + "has_phenotype_closure": [ + "HP:0006727", + "HP:0006721", + "UPHENO:0081424", + "HP:0000002", + "UPHENO:0080351", + "HP:0004325", + "UPHENO:0082761", + "UPHENO:0010795", + "UPHENO:0010763", + "HP:0004323", + "HP:0001508", + "UPHENO:0054299", + "HP:0003220", + "GO:0050794", + "GO:0019222", + "GO:0048519", + "GO:0043170", + "GO:0006139", + "GO:0034641", + "GO:0010629", + "UPHENO:0050021", + "GO:0010468", + "GO:0031327", + "GO:0009890", + "GO:0031324", + "GO:0071824", + "HP:0003221", + "UPHENO:0049990", + "GO:0005623", + "GO:0031049", + "GO:0006807", + "GO:0071840", + "UPHENO:0049748", + "GO:0031052", + "GO:0009889", + "GO:0048523", + "GO:0043933", + "GO:0065007", + "GO:0008152", + "GO:0009987", + "UPHENO:0050116", + "GO:0006996", + "HP:0001939", + "UPHENO:0050113", + "HP:0001510", + "UPHENO:0049874", + "UPHENO:0005597", + "UPHENO:0050034", + "UPHENO:0005642", + "UPHENO:0080382", + "UPHENO:0000543", + "HP:0001511", + "UPHENO:0000541", + "UPHENO:0082794", + "GO:0032501", + "HP:0001507", + "UBERON:0002371", + "CL:0001035", + "UPHENO:0084928", + "CL:0002092", + "HP:0005528", + "UPHENO:0087339", + "UPHENO:0080393", + "HP:0012145", + "UPHENO:0087355", + "UBERON:0004375", + "UPHENO:0052178", + "UBERON:0011582", + "UBERON:0004708", + "UPHENO:0079876", + "UPHENO:0086700", + "UPHENO:0012541", + "UPHENO:0049700", + "HP:0005927", + "HP:0002817", + "HP:0001172", + "UPHENO:0012274", + "GO:0006325", + "UPHENO:0052778", + "HP:0011927", + "UBERON:0011249", + "HP:0040068", + "HP:0011297", + "UPHENO:0084761", + "HP:0006265", + "HP:0001155", + "UPHENO:0087006", + "HP:0005922", + "GO:0046483", + "UPHENO:0084766", + "GO:0040007", + "UBERON:0001460", + "UBERON:0002529", + "UPHENO:0087907", + "UPHENO:0020584", + "UBERON:0002091", + "UPHENO:0046411", + "HP:0000924", "HP:0010987", - "HP:0011893", - "HP:0002977", - "HP:0000812", - "UPHENO:0086635", - "HP:0000240", - "HP:0000252", - "UPHENO:0086855", - "UPHENO:0081628", + "GO:0032502", + "UBERON:0001440", + "UPHENO:0084763", + "GO:0044238", + "UPHENO:0001001", + "UPHENO:0069254", "UPHENO:0075220", - "UPHENO:0080200", - "BFO:0000020", + "GO:0031326", + "UBERON:0002090", + "UPHENO:0050845", + "HP:0004377", + "HP:0011121", "UPHENO:0081566", - "HP:0000957", - "UPHENO:0074584", - "HP:0033127", + "HP:0025461", + "UPHENO:0076805", + "GO:0050789", + "UBERON:0013701", + "UBERON:0002204", + "HP:0000240", + "UPHENO:0005431", + "UBERON:0000475", + "HP:0012443", + "UPHENO:0004523", + "UBERON:0010758", + "GO:0006725", + "UBERON:0001893", + "UPHENO:0046624", + "UBERON:0000033", + "HP:0025354", + "PATO:0000001", + "UBERON:0001017", + "UBERON:0011676", + "UPHENO:0076740", + "UPHENO:0076703", + "UBERON:0010314", + "UBERON:0001062", + "HP:0004322", + "UBERON:0015061", + "UBERON:0003129", + "UPHENO:0002833", + "UPHENO:0080099", + "UPHENO:0080126", + "UPHENO:0076799", + "UBERON:0000481", "HP:0007400", + "UBERON:0000479", + "UBERON:0001007", + "GO:0090304", + "UPHENO:0015280", + "UPHENO:0002839", + "UBERON:0006048", + "UPHENO:0074228", + "HP:0040195", + "UPHENO:0001005", + "BFO:0000002", + "HP:0012639", + "UBERON:0000025", + "HP:0002715", + "UBERON:0000161", + "HP:0025031", + "UBERON:0011137", + "UPHENO:0078606", + "HP:0002664", + "HP:0002488", + "UPHENO:0074589", + "HP:0004378", + "UBERON:0000465", + "HP:0002060", + "CL:0000988", + "UPHENO:0076791", + "UPHENO:0086589", + "UPHENO:0049873", + "HP:0005561", + "UBERON:0000153", + "HP:0000951", + "UPHENO:0002896", + "HP:0011793", + "HP:0002023", + "UPHENO:0063599", "UPHENO:0080662", - "HP:0000050", - "UPHENO:0054970", - "UPHENO:0082682", - "HP:0000002", - "UPHENO:0076740", + "UBERON:0004120", + "UBERON:0010707", + "BFO:0000015", + "UBERON:0019221", + "UBERON:0000062", + "UPHENO:0076803", + "BFO:0000020", + "UBERON:0001555", + "UPHENO:0059829", + "UBERON:0004121", + "UBERON:0010740", + "UBERON:0002416", + "HP:0000001", + "UBERON:0001442", + "GO:0043473", + "HP:0025033", "HP:0000953", - "UPHENO:0003020", - "UPHENO:0002725", - "UPHENO:0069523", - "HP:0000125", - "UPHENO:0002910", - "HP:0000568", - "HP:0030962", - "UPHENO:0020041", - "HP:0000271", - "HP:0000478", - "HP:0100887", - "HP:0012252", - "HP:0012647", - "HP:0002090", - "HP:0012649", - "UPHENO:0086908", - "UPHENO:0076812", - "UPHENO:0074685", - "HP:0010978", - "UPHENO:0074589", - "UPHENO:0076684", - "UPHENO:0074804", - "UPHENO:0015329", - "UPHENO:0004536", - "UPHENO:0002827", - "UPHENO:0082723", - "UPHENO:0086700", - "UPHENO:0020748", - "HP:0011994", - "UPHENO:0074722", - "HP:0000707", - "UPHENO:0049748", - "UPHENO:0050021", - "HP:0000009", - "UPHENO:0050845", - "HP:0001939", - "HP:0003221", - "UPHENO:0083648", - "HP:0011017", - "HP:0010936", - "UPHENO:0002806", - "HP:0000069", - "UPHENO:0075852", - "HP:0000014", - "UPHENO:0075933", - "HP:0031073", - "UPHENO:0076765", - "HP:0025015", - "UPHENO:0086797", - "HP:0012130", - "UPHENO:0033603", - "HP:0033353", - "UPHENO:0076729", - "HP:0000830", - "HP:0001643", - "UPHENO:0087339", - "UPHENO:0063629", + "NCBITaxon:6072", + "UPHENO:0020888", + "GO:0008150", + "HP:0045060", + "UBERON:0000468", + "UBERON:0001463", + "UBERON:0001245", + "UPHENO:0002635", + "UBERON:0010712", + "UPHENO:0087089", + "UPHENO:0086644", + "HP:0011355", + "UPHENO:0075195", + "UBERON:0002097", + "HP:0000252", "UPHENO:0085195", - "HP:0031071", - "HP:0005528" + "UBERON:0012475", + "HP:0001574", + "HP:0009815", + "UBERON:0000075", + "UPHENO:0088186", + "UPHENO:0001002", + "HP:0000152", + "HP:0011842", + "UPHENO:0075696", + "HP:0001871", + "UBERON:0002470", + "UPHENO:0074584", + "BFO:0000040", + "BFO:0000004", + "GO:0048856", + "UPHENO:0003811", + "GO:0060255", + "UPHENO:0082682", + "HP:0000118", + "GO:0007275", + "HP:0034915", + "UPHENO:0088166", + "BFO:0000001", + "UBERON:0002616", + "UPHENO:0054970", + "CL:0000000", + "UPHENO:0080221", + "HP:0001034", + "HP:0000957", + "OBI:0100026", + "UPHENO:0087518", + "UPHENO:0050008", + "UPHENO:0060026", + "UBERON:0001016", + "UPHENO:0080377", + "UBERON:0011216", + "UBERON:0007811", + "UPHENO:0050121", + "GO:0009790", + "UPHENO:0074572", + "NCBITaxon:1", + "UPHENO:0054261", + "UBERON:0006717", + "UPHENO:0001003", + "GO:0016043", + "HP:0002011", + "UPHENO:0074575", + "HP:0007364", + "UPHENO:0076739", + "BFO:0000003", + "GO:0010556", + "PR:000050567", + "UBERON:5002389", + "HP:0012733", + "UPHENO:0002905", + "HP:0009121", + "UPHENO:0002764", + "HP:0000234", + "UPHENO:0005433", + "UPHENO:0080114", + "UBERON:0002101", + "UPHENO:0002964", + "HP:0002813", + "UBERON:0013702", + "NCBITaxon:33154", + "UPHENO:0022529", + "UPHENO:0081423", + "UBERON:0015203", + "UPHENO:0076702", + "HP:0001000", + "UBERON:0012354", + "UPHENO:0076692", + "UPHENO:0002536", + "NCBITaxon:33208", + "UBERON:0001890", + "UPHENO:0080200", + "UBERON:0005944", + "UBERON:0034925", + "UPHENO:0050108", + "UPHENO:0085144", + "UBERON:0004288", + "UBERON:0034923", + "HP:0040012", + "UBERON:0000467", + "UBERON:0004765", + "UPHENO:0063565", + "UBERON:0010912", + "UPHENO:0087123", + "HP:0001909", + "UPHENO:0031839", + "UBERON:0010000", + "UBERON:0002390", + "HP:0000707", + "UPHENO:0086172", + "HP:0009115", + "GO:0010605", + "GO:0009892", + "UPHENO:0080079", + "HP:0011844", + "UPHENO:0081436", + "HP:0001881", + "HP:0032251", + "HP:0004808", + "UPHENO:0002948", + "UBERON:0002544", + "CL:0000255", + "GO:0010558", + "UBERON:0008785", + "GO:0071704", + "CL:0000219", + "CL:0002242", + "UBERON:0002199", + "UBERON:0002193", + "UPHENO:0086633", + "HP:0006496", + "UBERON:0001434", + "HP:0009778", + "UPHENO:0053208", + "UBERON:0002102", + "UBERON:0004111", + "UBERON:0005451", + "UBERON:0012140", + "UBERON:0002398", + "HP:0040064", + "HP:0001167", + "UBERON:0000061", + "UPHENO:0076724", + "HP:0009381", + "UPHENO:0075159", + "HP:0100547", + "UPHENO:0002880", + "GO:1901360", + "UPHENO:0002830", + "UBERON:0015212", + "UPHENO:0081435", + "UBERON:5006048", + "GO:0006259", + "UBERON:0001474", + "UBERON:0010538", + "UBERON:0004710", + "UPHENO:0084448", + "GO:0044237", + "HP:0002977", + "UBERON:0010363", + "UBERON:0006058", + "UPHENO:0049587", + "UPHENO:0002844", + "UBERON:0019231", + "UPHENO:0080352", + "UBERON:0002405", + "UBERON:0000026", + "HP:0033127", + "UPHENO:0086635", + "UBERON:0012139", + "UBERON:0010323", + "UPHENO:0046707", + "HP:0009601", + "UBERON:0000955", + "HP:0000929", + "UBERON:0000073", + "RO:0002577", + "HP:0011017", + "UBERON:0012141", + "UPHENO:0002708", + "UPHENO:0046505", + "UBERON:5002544", + "NCBITaxon:131567", + "UPHENO:0076723", + "UBERON:0010708", + "CL:0000738", + "UBERON:0005881", + "UPHENO:0068971", + "UPHENO:0076727", + "UBERON:0004381", + "UBERON:0007272", + "UPHENO:0054957", + "UPHENO:0004459", + "UBERON:0002428", + "NCBITaxon:2759", + "UBERON:0002389", + "UBERON:5001463", + "GO:0031323", + "UBERON:0011138", + "UBERON:0002513" ], "has_phenotype_closure_label": [ - "Placental abruption", - "Abnormal placenta morphology", - "abnormal female reproductive system", - "abnormal amniotic fluid", - "Abnormality of the amniotic fluid", - "Short stature", - "abnormality of anatomical entity height", - "decreased height of the multicellular organism", - "abnormality of multicellular organism height", + "T-cell acute lymphoblastic leukemias", "decreased height of the anatomical entity", + "abnormality of multicellular organism height", + "decreased size of the multicellular organism", + "decreased height of the multicellular organism", "Abnormality of body height", - "abnormal size of multicellular organism", - "abnormal manual digit 2 morphology", - "Abnormal 2nd finger morphology", - "abnormally fused manual digit 2 and manual digit 3", - "Finger syndactyly", - "abnormally fused anatomical entity and manual digit 3", - "Syndactyly", - "abnormally fused digit and anatomical entity", - "2-3 finger syndactyly", - "abnormally fused anatomical entity in independent continuant with anatomical entity in independent continuant", - "abnormally fused digit and digit", - "abnormally fused anatomical entity and anatomical entity", - "abnormally fused anatomical entity and digit", - "Renal hypoplasia", - "decreased size of the kidney", - "Fetal ultrasound soft marker", - "abnormal late embryo", - "Single umbilical artery", - "abnormal umbilical cord", - "Abnormality of the umbilical cord", - "Abnormal umbilical cord blood vessel morphology", - "Decreased body weight", - "abnormality of anatomical entity mass", "Failure to thrive", + "abnormality of anatomical entity mass", + "decreased multicellular organism mass", + "Abnormality of body weight", "abnormality of multicellular organism mass", "Decreased multicellular organism mass", - "abnormal erythrocyte morphology", - "abnormal number of anatomical enitites of type cell", - "Abnormal immune system morphology", - "abnormal size of anatomical entity", - "abnormal nervous system morphology", - "Sacral dimple", - "abnormally decreased number of myeloid cell", - "Abnormal cardiac atrium morphology", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Congenital malformation of the great arteries", - "Abnormal platelet count", - "abnormal sensory perception of sound", - "abnormal platelet morphology", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "Short digit", - "Short thumb", - "Intrauterine growth retardation", - "abnormal vascular system morphology", - "Short finger", - "Abnormality of cardiovascular system morphology", - "abnormal respiratory system", + "Chromosomal breakage induced by crosslinking agents", "abnormal cellular metabolic process", - "abnormal cardiac atrium morphology", - "abnormal hypothalamus-pituitary axis", - "abnormal cardiac septum morphology", - "abnormal cardiovascular system morphology", - "Abnormality of mental function", - "abnormally localised anatomical entity", - "Abnormality of the genital system", - "abnormal male reproductive organ morphology", - "Non-obstructive azoospermia", - "Abnormal penis morphology", - "abnormal number of anatomical enitites of type sperm", - "absent sperm", - "abnormally localised anatomical entity in independent continuant", - "absent sperm in the independent continuant", - "decreased spermatogenesis", - "abnormal kidney morphology", - "abnormal male reproductive system", - "decreased qualitatively developmental process", - "abnormal ureter", - "Abnormality of male external genitalia", - "absent anatomical entity in the semen", - "abnormal axial skeleton plus cranial skeleton morphology", - "Polyhydramnios", + "regulation of macromolecule biosynthetic process", + "negative regulation of biosynthetic process", + "regulation of cellular process", + "negative regulation of biological process", + "nucleobase-containing compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal cellular physiology", + "organic substance metabolic process", + "obsolete nitrogen compound metabolic process", + "primary metabolic process", + "cellular metabolic process", + "cellular component organization or biogenesis", + "abnormal primary metabolic process", + "programmed DNA elimination", + "negative regulation of macromolecule metabolic process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal cellular process", + "regulation of biosynthetic process", + "negative regulation of metabolic process", + "negative regulation of cellular process", + "nucleic acid metabolic process", + "protein-containing complex organization", + "abnormal metabolic process", + "Chromosome breakage", + "abnormal chromatin organization", + "regulation of gene expression", + "negative regulation of cellular biosynthetic process", + "chromatin organization", + "regulation of cellular biosynthetic process", + "biological regulation", + "metabolic process", + "obsolete cell", + "abnormal programmed DNA elimination by chromosome breakage", + "delayed growth", + "abnormal embryo development", + "Growth delay", + "embryo development", + "anatomical structure development", + "abnormal cellular component organization", + "decreased qualitatively biological_process", + "delayed biological_process", + "decreased embryo development", + "developmental process", + "obsolete cellular aromatic compound metabolic process", + "multicellular organismal process", + "Acute lymphoblastic leukemia", + "growth", + "programmed DNA elimination by chromosome breakage", + "Growth abnormality", + "abnormal hematopoietic system morphology", + "Abnormality of multiple cell lineages in the bone marrow", + "negative regulation of cellular metabolic process", + "abnormal bone marrow cell morphology", + "skeleton of manus", + "limb bone", + "Bone marrow hypocellularity", + "skeletal element", + "subdivision of organism along appendicular axis", + "autopodial skeleton", + "limb endochondral element", + "bone marrow cell", + "system", "abnormal anatomical entity morphology in the pectoral complex", - "Thrombocytopenia", - "Abnormality of the cardiovascular system", - "Abnormality of the genitourinary system", - "Abnormal external genitalia", - "Abnormal myeloid cell morphology", - "abnormal interatrial septum morphology", - "Abnormal ear physiology", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal postcranial axial skeleton morphology", - "abnormal diencephalon", - "abnormal incomplete closing of the interatrial septum", - "penis hypoplasia", - "Abnormal cellular phenotype", - "decreased size of the radius bone", - "decreased growth hormone secretion", - "abnormally fused manual digit and anatomical entity", - "Abnormality of head or neck", - "abnormality of anatomical entity physiology", - "abnormally fused manual digit and manual digit", - "anatomical entity atresia", - "abnormal cell", - "Abnormal testis morphology", - "abnormal reproductive process", - "abnormal multicellular organismal reproductive process", - "abnormal internal genitalia", - "abnormal gamete generation", - "abnormal erythroid lineage cell morphology", - "Abnormal morphology of the radius", - "abnormal artery morphology", - "Abnormal forearm morphology", - "abnormal anatomical entity", - "abnormal incomplete closing of the ductus arteriosus", - "decreased length of anatomical entity in independent continuant", - "changed biological_process rate in independent continuant", - "Abnormality of the musculoskeletal system", - "Microcephaly", - "abnormal lung morphology", - "decreased length of forelimb zeugopod bone", - "decreased size of the anatomical entity in the pectoral complex", - "Abnormal skeletal morphology", - "Abnormal male reproductive system physiology", - "decreased length of anatomical entity", - "abnormally decreased number of cell", - "Aplasia/hypoplasia involving forearm bones", - "Forearm undergrowth", - "abnormal growth hormone secretion", - "Abnormality of the vasculature", - "Absent thumb", - "abnormal ear", - "abnormal blood cell", - "aplasia or hypoplasia of manual digit", - "absent anatomical entity in the multicellular organism", - "decreased sensory perception of sound", - "abnormality of middle ear physiology", - "Abnormality of limb bone", - "Abnormal small intestine morphology", - "Abnormal fetal morphology", - "abnormal intestine morphology", - "Abnormal cerebral morphology", - "abnormal blood vessel morphology", - "Abnormal vascular morphology", - "abnormal arm", - "Abnormal digit morphology", - "decreased qualitatively reproductive process", - "abnormal localization", - "Language impairment", - "Anemia", - "Abnormality of the hand", - "decreased size of the external ear", - "phenotype by ontology source", - "abnormal endocrine gland morphology", - "Microtia", - "Azoospermia", - "Aplasia/Hypoplasia of the ear", - "continuant", - "abnormal manus", - "aplasia or hypoplasia of ear", - "abnormal sensory perception", - "Abnormal fetal cardiovascular morphology", - "Cryptorchidism", - "abnormal artery morphology in the independent continuant", "abnormal digit morphology", - "abnormal anatomical entity morphology in the appendage girdle complex", + "decreased size of the anatomical entity in the independent continuant", + "decreased length of digit", "aplasia or hypoplasia of manual digit 1", - "entity", - "abnormal testis morphology", - "abnormal limb bone morphology", - "abnormal shape of external ear", - "abnormal reproductive system morphology", - "changed biological_process rate in brain", - "abnormal blood cell morphology", - "Abnormality of the skin", - "abnormal duodenum morphology", - "abnormal anatomical entity morphology in the heart", - "abnormal external genitalia", - "Abnormal renal morphology", - "decreased multicellular organism mass", + "abnormal manus", + "Short finger", + "digit plus metapodial segment", + "central nervous system", + "anatomical entity", + "Aplasia/hypoplasia involving the skeleton", + "Morphological central nervous system abnormality", + "Abnormality of the musculoskeletal system", + "abnormal anatomical entity morphology in the brain", + "obsolete heterocycle metabolic process", + "Abnormal axial skeleton morphology", "Aplasia/Hypoplasia involving the central nervous system", - "bone element hypoplasia in independent continuant", - "abnormally decreased number of anatomical entity in the blood", - "Abnormal erythroid lineage cell morphology", - "abnormal limb long bone morphology", - "abnormal small intestine morphology", - "decreased length of manual digit 1", - "Aplasia/hypoplasia of the extremities", - "Atrial septal defect", - "abnormal spermatogenesis", - "Abnormal hand morphology", - "Localized skin lesion", - "Abnormality of the female genitalia", - "abnormal forelimb zeugopod morphology", - "Abnormal spermatogenesis", - "Abnormal morphology of the great vessels", - "decreased length of long bone", + "aplasia or hypoplasia of anatomical entity", + "organism subdivision", + "skeleton", + "bone of free limb or fin", + "abnormal autopod region morphology", + "Abnormal skull morphology", + "regional part of nervous system", + "forebrain", + "skin of body", + "Abnormality of brain morphology", + "Aplasia/Hypoplasia of the cerebrum", + "Abnormality of chromosome stability", + "abnormal central nervous system morphology", + "leukocyte", + "abnormal size of anatomical entity", + "abnormal forebrain morphology", + "skeleton of limb", + "Abnormality of skin pigmentation", + "abnormal nervous system", + "Anal atresia", + "anatomical entity atresia", + "abnormal head morphology", + "manual digit", + "abnormal anus", + "Abnormality of the skeletal system", + "decreased size of the anatomical entity", + "Abnormality of the head", + "anatomical conduit", + "anatomical structure", + "decreased anatomical entity mass", + "craniocervical region", + "protein-DNA complex organization", + "Abnormal anus morphology", + "hematopoietic cell", + "regional part of brain", + "abnormal craniocervical region morphology", + "continuant", + "anus", + "multi-tissue structure", + "Abnormality of the immune system", + "abnormal developmental process", + "tube", + "DNA metabolic process", + "orifice", + "Abnormal leukocyte morphology", + "digestive system", + "paired limb/fin", + "abnormal manual digit morphology in the independent continuant", + "digestive tract", + "changed developmental process rate", + "lateral structure", + "abnormal digestive system", + "abnormal closing of the anatomical entity", + "abnormal skull morphology", + "brain", "abnormal anatomical entity morphology in the independent continuant", - "absent manual digit", - "abnormal phenotype by ontology source", - "alimentary part of gastrointestinal system atresia", - "Morphological abnormality of the gastrointestinal tract", - "abnormal gland morphology", - "abnormal immune system morphology", - "Abnormal reproductive system morphology", - "abnormal cardiovascular system", - "abnormal cardiac atrium morphology in the heart", - "delayed growth", - "Abnormality of the integument", - "absent germ cell", - "Abnormal response to endocrine stimulation test", + "limb segment", + "increased qualitatively biological_process in independent continuant", + "musculoskeletal system", "Abnormality of bone marrow cell morphology", - "Short forearm", - "delayed biological_process", - "Pneumonia", - "Abnormal cardiac septum morphology", - "abnormal transport", - "Hypoplasia of the radius", - "Aplasia/hypoplasia involving the skeleton", - "abnormal limb morphology", - "abnormal skeletal system morphology", - "abnormal biological_process in central nervous system", - "Hypermelanotic macule", - "abnormal bone marrow morphology", - "abnormal small intestine", - "abnormal digestive system morphology", - "abnormal forelimb morphology", - "abnormal penis", - "abnormality of ureter physiology", - "abnormal penis morphology", - "decreased length of manual digit", - "abnormal developmental process", - "abnormal hormone independent continuant level", - "decreased biological_process in independent continuant", - "absent anatomical entity", - "Abnormality of reproductive system physiology", - "aplastic manual digit 1", - "Abnormal sacrum morphology", - "Abnormality of the endocrine system", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormally decreased number of anatomical entity", - "Abnormal upper limb bone morphology", - "All", - "increased qualitatively biological_process", - "decreased developmental process", - "abnormal response to stress", - "agenesis of anatomical entity", - "Skin dimple", - "Abnormality of thrombocytes", - "Upper limb undergrowth", - "abnormal ductus arteriosus morphology", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal platelet", - "abnormal face morphology", - "abnormal myeloid cell morphology", - "Aplasia/Hypoplasia of fingers", - "abnormal blood chemical entity level", - "Aplasia/hypoplasia involving bones of the upper limbs", - "abnormal skin of body morphology", - "increased biological_process in independent continuant", - "aplastic anatomical entity", - "abnormal anatomical entity topology in independent continuant", - "decreased qualitatively sensory perception of sound", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of limbs", - "Hypopituitarism", - "Delayed speech and language development", - "Hypoplasia of penis", - "Abnormality of limb bone morphology", - "Abnormal erythrocyte morphology", - "Abnormal finger morphology", - "absent gamete", - "Finger aplasia", - "abnormal number of anatomical enitites of type leukocyte", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Abnormal appendicular skeleton morphology", - "abnormal limb", - "abnormally fused manual digit 2 and anatomical entity", - "abnormal number of anatomical enitites of type myeloid cell", - "Abnormality of digestive system morphology", - "aplasia or hypoplasia of skeleton", - "abnormal craniocervical region", - "Abnormal ear morphology", - "anatomical entity hypoplasia", - "Abnormality of the ureter", - "abnormal cardiac atrium morphology in the independent continuant", - "abnormal manus morphology", - "changed embryo development rate", - "abnormal number of anatomical entities of type anatomical entity in blood", - "abnormal digit", + "Abnormality of the integument", + "abnormal skin of body", + "Abnormal cell morphology", + "phenotype", + "appendage", + "root", + "immune system", + "Neoplasm by anatomical site", + "decreased length of manual digit 1", + "quality", + "phenotype by ontology source", "Abnormal thumb morphology", - "abnormal development of anatomical entity", - "Abnormal forearm bone morphology", + "biological_process", + "abnormal biological_process", + "decreased qualitatively growth", + "abnormal integument", + "abnormal digestive system morphology", + "increased biological_process", + "increased pigmentation in skin of body", + "hematopoietic system", + "multicellular organism", + "increased pigmentation", + "increased pigmentation in independent continuant", + "regulation of macromolecule metabolic process", + "Abnormality of the digestive system", + "multicellular anatomical structure", + "cranial skeletal system", + "autopodial extension", + "abnormal pigmentation", + "anatomical system", + "abnormal phenotype by ontology source", + "Abnormality of skull size", + "pectoral complex", + "organ", + "occurrent", + "abnormal anatomical entity", + "integumental system", "abnormal pigmentation in independent continuant", - "absent sperm in the semen", - "Abnormal long bone morphology", - "absent anatomical entity in the limb", - "Abnormality of the skeletal system", + "arm", + "Abnormality of metabolism/homeostasis", + "abnormal anus morphology", + "Irregular hyperpigmentation", "abnormal skeletal system", - "abnormal external ear morphology", - "Microphthalmia", - "Fetal anomaly", + "integument", + "eukaryotic cell", + "decreased length of anatomical entity in independent continuant", + "skeleton of pectoral complex", "Abnormality of skin morphology", - "abnormal camera-type eye morphology", - "decreased size of the eyeball of camera-type eye", - "radius bone hypoplasia", - "decreased biological_process", - "aplasia or hypoplasia of anatomical entity", - "Abnormal axial skeleton morphology", - "Abnormality of globe size", - "abnormally decreased number of platelet", - "increased pigmentation in skin of body", - "Phenotypic abnormality", - "abnormality of immune system physiology", - "abnormal vertebral column", - "Abnormality of the vertebral column", - "abnormal location of anatomical entity", - "Gastrointestinal atresia", + "decreased developmental process", + "axial skeletal system", + "nervous system", + "Abnormality of head or neck", + "Abnormal hand morphology", + "Localized skin lesion", + "material entity", "Macule", - "abnormal fused sacrum morphology", - "abnormal role bodily fluid level", - "aplasia or hypoplasia of external ear", - "abnormal integument", - "Sacrococcygeal pilonidal abnormality", - "intestine atresia", - "Abnormal endocrine physiology", - "decreased anatomical entity mass", - "Abnormality of the digestive system", - "abnormal cell morphology", - "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", - "abnormal forelimb zeugopod bone", - "duodenum atresia", - "abnormal incomplete closing of the anatomical entity", - "abnormal alimentary part of gastrointestinal system morphology", - "decreased qualitatively sensory perception of mechanical stimulus", - "abnormal male reproductive system morphology", - "phenotype", - "abnormal placenta", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", - "Abnormality of the gastrointestinal tract", - "Aplasia/Hypoplasia of the radius", - "abnormal digestive system", - "decreased growth", - "increased qualitatively inflammatory response", - "Abnormal duodenum morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "abnormal coronary vessel morphology", - "Abnormal atrial septum morphology", - "abnormal heart morphology", - "aplasia or hypoplasia of radius bone", - "abnormal long bone morphology", - "abnormal opening of the anatomical entity", - "abnormal alimentary part of gastrointestinal system", - "abnormal biological_process in nervous system", - "absent anatomical entity in the independent continuant", - "abnormally localised testis", - "Decreased anatomical entity mass", - "Neoplasm by anatomical site", - "Abnormality of the upper limb", - "Duodenal atresia", - "forelimb zeugopod bone hypoplasia", - "Abnormal internal genitalia", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "abnormally decreased number of leukocyte", - "Abnormality of the ear", - "Abnormal pituitary gland morphology", - "Intestinal atresia", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "decreased size of the anatomical entity in the independent continuant", - "abnormal renal system morphology", - "abnormal reproductive system", - "abnormal kidney", - "abnormal central nervous system morphology", - "Abnormality of chromosome stability", - "Limb undergrowth", - "abnormal upper urinary tract", - "Abnormality of the eye", - "abnormality of male reproductive system physiology", - "abnormally localised kidney", - "abnormally decreased number of anatomical entity in the multicellular organism", - "abnormal renal system", - "Ectopic kidney", - "Abnormality of the lower urinary tract", - "Abnormal localization of kidney", - "abnormal adenohypophysis", - "Growth abnormality", - "abnormal orbital region", - "Abnormality of the kidney", - "decreased biological_process in pituitary gland", - "abnormal eyeball of camera-type eye", - "Abnormality of the upper urinary tract", - "Pelvic kidney", - "abnormality of nervous system physiology", - "Abnormal cellular physiology", - "kidney hypoplasia", - "abnormal craniocervical region morphology", - "Hearing abnormality", + "abnormal size of multicellular organism", + "bone element", + "obsolete cellular nitrogen compound metabolic process", + "organelle organization", + "Cafe-au-lait spot", + "structure with developmental contribution from neural crest", + "ectoderm-derived structure", "abnormal anatomical entity morphology in the manus", - "abnormal role blood level", - "Conductive hearing impairment", - "abnormal middle ear", - "abnormal genitourinary system", - "changed developmental process rate", - "abnormal vasculature", - "abnormal head morphology", - "decreased vibrational conductance of sound to the inner ear", + "Decreased anatomical entity mass", + "manual digitopodium region", + "tissue", + "abnormal axial skeleton plus cranial skeleton morphology", + "abnormal brain morphology", + "Abnormal cellular immune system morphology", + "Abnormality of the skin", + "negative regulation of gene expression", + "Phenotypic abnormality", + "abnormal bone marrow morphology", + "Hypermelanotic macule", + "abnormal skin of body morphology", + "changed biological_process rate", + "increased biological_process in skin of body", + "abnormal biological_process in independent continuant", "Abnormal forebrain morphology", - "Functional abnormality of the middle ear", + "abnormal anatomical entity morphology", + "Abnormal cerebral morphology", + "specifically dependent continuant", + "anus atresia", + "Microcephaly", + "changed biological_process rate in independent continuant", + "All", + "increased qualitatively biological_process", + "anatomical collection", + "skeletal system", + "motile cell", + "organic cyclic compound metabolic process", + "multicellular organism development", + "segment of autopod", + "process", + "organ system subdivision", + "Abnormality of the anus", + "material anatomical entity", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "nucleate cell", + "Abnormal finger morphology", + "Decreased body weight", + "decreased qualitatively developmental process", + "postcranial axial skeleton", + "abnormal DNA metabolic process", + "abnormal manual digit morphology in the manus", + "aplasia or hypoplasia of telencephalon", + "Short digit", + "Acute myeloid leukemia", + "abnormal cell morphology", + "abnormal nervous system morphology", + "telencephalon", + "Hyperpigmentation of the skin", + "digit", + "anterior region of body", + "entity", + "subdivision of skeletal system", + "Leukemia", + "appendicular skeleton", + "upper limb segment", + "Short stature", + "decreased biological_process", + "Aplasia/hypoplasia of the extremities", "abnormal head", - "absent anatomical entity in the forelimb", - "abnormality of ear physiology", - "abnormal ear morphology", - "abnormal endocrine system", - "absent digit", - "Respiratory tract infection", + "subdivision of skeleton", + "endochondral bone", + "subdivision of organism along main body axis", + "main body axis", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "Metazoa", + "abnormal size of skull", + "digit 1 plus metapodial segment", + "Decreased head circumference", + "abnormal telencephalon morphology", + "body proper", + "pectoral appendage", + "paired limb/fin segment", + "Opisthokonta", + "decreased length of manual digit", + "Eukaryota", + "Eumetazoa", + "manual digit plus metapodial segment", + "abnormal hematopoietic system", "Neoplasm", - "Abnormal intestine morphology", - "decreased qualitatively biological_process in independent continuant", - "abnormal endocrine system morphology", - "Abnormality of the respiratory system", + "manual digit 1 or 5", + "manual digit 1 plus metapodial segment", + "Abnormal cellular phenotype", + "decreased growth", + "disconnected anatomical group", + "bone cell", "Aplasia/Hypoplasia of the thumb", - "decreased secretion in pituitary gland", - "abnormal secretion in independent continuant", - "abnormal nervous system", - "abnormal external male genitalia", - "Hearing impairment", - "abnormal anatomical entity morphology in the brain", - "abnormal forebrain morphology", - "abnormality of reproductive system physiology", - "Abnormal heart morphology", - "Abnormality of the bladder", - "abnormal multicellular organism chemical entity level", - "abnormal pituitary gland morphology", - "abnormal number of anatomical enitites of type platelet", - "abnormal brain morphology", - "Abnormal cellular immune system morphology", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of the hypothalamus-pituitary axis", - "abnormal cellular process", - "Abnormal communication", - "Abnormality of brain morphology", - "abnormal bone of pectoral complex morphology", - "decreased qualitatively biological_process in central nervous system", - "decreased secretion in independent continuant", - "Abnormality of the urinary system", - "Morphological central nervous system abnormality", - "Abnormal endocrine morphology", - "decreased biological_process in brain", - "abnormal secretion by cell", - "abnormality of endocrine system physiology", - "Decreased response to growth hormone stimulation test", - "increased inflammatory response in lung", - "Abnormality of the diencephalon", - "abnormal behavior", - "abnormal independent continuant chemical entity level", - "Abnormality of metabolism/homeostasis", - "abnormal chemical entity level", - "abnormal inflammatory response", - "Abnormal circulating hormone concentration", - "abnormal hormone blood level", - "Abnormalities of placenta or umbilical cord", - "abnormal size of skull", - "Anterior hypopituitarism", - "decreased size of the penis", - "abnormal role independent continuant level", - "decreased size of the anatomical entity", - "Specific learning disability", - "abnormal biological_process in independent continuant", - "Abnormality of the anterior pituitary", - "quality", - "decreased biological_process in multicellular organism", - "abnormal diencephalon morphology", - "Abnormal growth hormone level", - "decreased qualitatively growth", - "abnormally decreased number of hematopoietic cell", - "Abnormal inflammatory response", - "abnormal neuroendocrine gland morphology", - "abnormality of internal male genitalia physiology", - "Abnormality of the nervous system", - "abnormal umbilical blood vessel morphology", - "decreased embryo development", - "abnormal biological_process", - "Growth delay", + "mesoderm-derived structure", + "non-connected functional system", "abnormal growth", - "abnormally fused anatomical entity and manual digit", + "independent continuant", "abnormal leukocyte morphology", - "increased biological_process", - "abnormal external ear", - "abnormal manual digit morphology in the independent continuant", - "shape anatomical entity in independent continuant", - "external ear hypoplasia", - "Abnormal eye morphology", - "abnormal gamete", - "Abnormality of the outer ear", - "abnormal great vessel of heart morphology", - "anatomical entity hypoplasia in independent continuant", - "shape anatomical entity", "Abnormality of blood and blood-forming tissues", - "decreased length of digit", - "Abnormality of the male genitalia", - "Abnormal respiratory system morphology", - "Abnormality of the immune system", - "Abnormal nervous system physiology", - "Functional abnormality of male internal genitalia", - "abnormal developmental process involved in reproduction", - "Aplasia/Hypoplasia affecting the eye", - "abnormal hematopoietic system morphology", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal behavior process", - "abnormal skin of body", - "Neurodevelopmental delay", - "Atypical behavior", - "abnormal closing of the anatomical entity", - "abnormal response to stimulus", - "Short long bone", - "abnormal skull morphology", - "Neurodevelopmental abnormality", - "Abnormality of speech or vocalization", - "abnormally decreased number of leukocyte in the blood", - "Abnormal leukocyte count", - "abnormal manual digit 1 morphology", - "abnormally decreased number of leukocyte in the independent continuant", + "Abnormal immune system morphology", + "organism", + "autopod region", + "digit 1", + "aplasia or hypoplasia of manual digit", "abnormal immune system", - "Leukopenia", - "Abnormality of body weight", - "aplasia or hypoplasia of telencephalon", - "Renal hypoplasia/aplasia", - "abnormal size of kidney", - "abnormal lower urinary tract", - "Abnormal platelet morphology", - "Abnormal leukocyte morphology", - "abnormally decreased number of cell in the independent continuant", - "Decreased head circumference", - "abnormal telencephalon morphology", - "decreased size of the multicellular organism", - "Abnormality of skull size", - "abnormal urinary bladder", - "Abnormal skull morphology", - "Aplasia/Hypoplasia of the cerebrum", - "aplasia or hypoplasia of eyeball of camera-type eye", - "increased pigmentation in independent continuant", - "Abnormality of the head", - "abnormal pigmentation", - "decreased size of the external male genitalia", - "Abnormal ureter physiology", - "increased qualitatively biological_process in independent continuant", - "Cafe-au-lait spot", - "Abnormality of skin pigmentation", - "abnormal anatomical entity morphology", - "abnormally decreased number of anatomical entity in the independent continuant", - "increased pigmentation", + "abnormal bone marrow cell", + "Acute leukemia", + "abnormal cell", + "macromolecule metabolic process", + "appendage girdle complex", + "hemolymphoid system", "abnormal appendicular skeleton morphology", - "Irregular hyperpigmentation", - "Hyperpigmentation of the skin", - "abnormal size of eyeball of camera-type eye", - "abnormal face", - "Abnormality of the orbital region", - "Abnormality of the face", - "increased inflammatory response in independent continuant", - "Abnormality of the middle ear", - "abnormality of urinary bladder physiology", - "Abnormality of immune system physiology", - "Abnormal lung morphology", - "Abnormality of prenatal development or birth", - "increased inflammatory response", - "increased qualitatively response to stimulus", - "abnormal autopod region morphology", - "increased qualitatively inflammatory response in independent continuant", - "Increased inflammatory response", - "abnormal primary metabolic process", - "Chromosomal breakage induced by crosslinking agents", - "abnormal metabolic process", - "Abnormality of multiple cell lineages in the bone marrow", - "specifically dependent continuant", - "increased biological_process in lung", - "abnormal programmed DNA elimination by chromosome breakage", - "Chromosome breakage", - "abnormal chromatin organization", - "abnormal respiratory system morphology", - "abnormal organelle organization", - "abnormal nitrogen compound metabolic process", - "Functional abnormality of the bladder", + "pigmentation", + "abnormal anatomical entity morphology in the appendage girdle complex", + "abnormality of anatomical entity height", + "bone of appendage girdle complex", + "abnormal arm", + "Abnormality of digestive system morphology", + "manus", + "abnormal limb", + "abnormal skeletal system morphology", + "protein-containing material entity", + "segment of manus", + "digitopodium region", + "Aplasia/Hypoplasia of fingers", + "bone marrow", + "acropodium region", + "pectoral appendage skeleton", + "abnormal manus morphology", + "abnormal development of anatomical entity", + "cellular organisms", + "abnormal digit", + "Abnormal nervous system morphology", + "abnormal limb bone", + "increased biological_process in independent continuant", + "Aplasia/hypoplasia involving bones of the upper limbs", + "Abnormal appendicular skeleton morphology", + "abnormal postcranial axial skeleton morphology", "abnormal anatomical entity length", - "Vesicoureteral reflux", - "Abnormal pinna morphology", - "Patent ductus arteriosus", - "Abnormal blood vessel morphology", - "abnormal systemic artery morphology", - "abnormal bone marrow cell morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "abnormal shape of continuant", - "abnormal bone marrow cell", - "abnormal embryo development", - "Microphallus", - "abnormal vertebral column morphology", - "abnormal external male genitalia morphology", - "External genital hypoplasia" + "Abnormality of limbs", + "regulation of metabolic process", + "regulation of cellular metabolic process", + "Abnormality of limb bone morphology", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "forelimb", + "skull", + "decreased length of anatomical entity", + "abnormal forelimb morphology", + "abnormal immune system morphology", + "manual digit 1", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal limb morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "Hematological neoplasm", + "Abnormality of the hand", + "appendicular skeletal system", + "digit 1 or 5", + "limb skeleton subdivision", + "forelimb skeleton", + "cell", + "limb", + "Abnormality of the upper limb", + "negative regulation of macromolecule biosynthetic process", + "Aplasia/hypoplasia involving bones of the hand", + "cellular process", + "Abnormal digit morphology", + "head", + "Abnormality of limb bone", + "endochondral element", + "multi-limb segment region", + "Intrauterine growth retardation", + "changed embryo development rate", + "abnormal manual digit 1 morphology", + "Short thumb", + "abnormal limb bone morphology" ], - "has_phenotype_count": 34, + "has_phenotype_count": 11, "highlight": null, "score": null }, { - "id": "MONDO:0013566", + "id": "MONDO:0010351", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group L", + "name": "Fanconi anemia complementation group B", "full_name": null, "deprecated": null, - "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.", - "xref": ["DOID:0111082", "GARD:15754", "OMIM:614083"], + "description": "Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.", + "xref": [ + "DOID:0111098", + "GARD:15257", + "MESH:C564497", + "NCIT:C125703", + "OMIM:300514", + "UMLS:C1845292" + ], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCL", - "FANCL Fanconi anaemia", - "FANCL Fanconi anemia", - "Fanconi Anemia, complementation Group 50", - "Fanconi Anemia, complementation group type 50", - "Fanconi anaemia caused by mutation in FANCL", - "Fanconi anaemia complementation group type L", - "Fanconi anemia caused by mutation in FANCL", - "Fanconi anemia complementation group L", - "Fanconi anemia complementation group type L", - "Fanconi anemia, complementation group L" + "FA2", + "FACB", + "FANCB", + "Fanconi Anemia, complementation group type B", + "Fanconi anaemia complementation group type B", + "Fanconi anemia complementation group B", + "Fanconi anemia complementation group type B", + "Fanconi anemia, complementation group B", + "Fanconi anemia, complementation group B, X-linked recessive", + "Fanconi pancytopenia type 2", + "Fanconi pancytopenia, type 2" ], "uri": null, "iri": null, "namespace": "MONDO", "has_phenotype": [ - "HP:0040012", - "HP:0007018", - "HP:0000582", - "HP:0008551", "HP:0000470", "HP:0009777", - "HP:0004590", "HP:0002575", + "HP:0001249", + "HP:0007766", "HP:0000238", "HP:0000369", - "HP:0000465", - "HP:0000957", - "HP:0002023", - "HP:0000316", + "HP:0002101", "HP:0001510", - "HP:0001776", - "HP:0000347", - "HP:0003974", - "HP:0001511", - "HP:0009892", - "HP:0000151", - "HP:0001263", - "HP:0003221", + "HP:0000815", + "HP:0002247", + "HP:0002119", + "HP:0000104", + "HP:0001873", + "HP:0001915", + "HP:0001680", "HP:0002032", - "HP:0011968", + "HP:0003220", "HP:0001321", - "HP:0000175", + "HP:0002079", "HP:0000054", - "HP:0000437", - "HP:0001903", - "HP:0000122", + "HP:0000396", + "HP:0003468", + "HP:0000135", + "HP:0004977", + "HP:0001643", + "HP:0001629", + "HP:0001195", "HP:0002188", - "HP:0000568", - "HP:0000431", - "HP:0005528", - "HP:0000089" + "HP:0001511" ], "has_phenotype_label": [ - "Chromosome breakage", - "Attention deficit hyperactivity disorder", - "Upslanted palpebral fissure", - "Microtia", "Short neck", "Absent thumb", - "Hypoplastic sacrum", "Tracheoesophageal fistula", + "Intellectual disability", + "Optic disc hypoplasia", "Hydrocephalus", "Low-set ears", - "Webbed neck", - "Cafe-au-lait spot", - "Anal atresia", - "Hypertelorism", + "Abnormal lung lobation", "Growth delay", - "Bilateral talipes equinovarus", - "Micrognathia", - "Absent radius", - "Intrauterine growth retardation", - "Anotia", - "Aplasia of the uterus", - "Global developmental delay", - "Chromosomal breakage induced by crosslinking agents", + "Hypergonadotropic hypogonadism", + "Duodenal atresia", + "Ventriculomegaly", + "Renal agenesis", + "Thrombocytopenia", + "Aplastic anemia", + "Coarctation of aorta", "Esophageal atresia", - "Feeding difficulties", + "Abnormality of chromosome stability", "Cerebellar hypoplasia", - "Cleft palate", + "Hypoplasia of the corpus callosum", "Micropenis", - "Depressed nasal tip", - "Anemia", - "Unilateral renal agenesis", + "Overfolded helix", + "Abnormal vertebral morphology", + "Hypogonadism", + "Bilateral radial aplasia", + "Patent ductus arteriosus", + "Ventricular septal defect", + "Single umbilical artery", "Delayed CNS myelination", - "Microphthalmia", - "Wide nasal bridge", - "Bone marrow hypocellularity", - "Renal hypoplasia" + "Intrauterine growth retardation" ], "has_phenotype_closure": [ - "HP:0000089", - "UPHENO:0087355", - "UPHENO:0085195", - "UPHENO:0002948", - "UPHENO:0087278", - "HP:0000422", - "HP:0000431", - "UPHENO:0081800", - "HP:0000568", - "HP:0008056", - "UPHENO:0075219", - "UPHENO:0069523", - "UPHENO:0000552", - "UPHENO:0050372", - "HP:0012447", - "UPHENO:0050406", - "HP:0002715", - "HP:0002188", - "UPHENO:0062527", - "HP:0012448", - "UPHENO:0084007", - "UPHENO:0008593", - "HP:0000079", - "HP:0012210", - "HP:0010935", - "HP:0012130", - "UPHENO:0084928", - "HP:0001871", - "HP:0001877", - "HP:0001903", - "UPHENO:0041458", - "HP:0000366", - "HP:0000436", - "UPHENO:0088168", - "UPHENO:0082467", - "UPHENO:0002597", - "HP:0000054", - "HP:0003241", - "HP:0008736", - "UPHENO:0000553", - "UPHENO:0068843", - "UPHENO:0081095", - "HP:0000036", - "HP:5201015", - "HP:0000202", - "HP:0000174", - "UPHENO:0006147", - "UPHENO:0087585", - "UPHENO:0033572", - "UPHENO:0080089", - "HP:0001321", - "UPHENO:0068984", - "UPHENO:0087548", - "UPHENO:0033635", - "HP:0002977", - "UPHENO:0081601", - "HP:0001317", - "UPHENO:0081099", - "HP:0011458", - "HP:0011968", - "HP:0000811", - "HP:0025032", - "UPHENO:0063639", - "HP:0002589", - "UPHENO:0063603", - "HP:0003221", - "HP:0000078", - "UPHENO:0003055", - "HP:0010460", - "HP:0000151", - "UPHENO:0002598", - "UPHENO:0087974", - "UPHENO:0020950", - "UPHENO:0009305", - "UPHENO:0087339", - "UPHENO:0026954", - "UPHENO:0026984", - "UPHENO:0025708", - "HP:0008678", - "UPHENO:0052178", - "HP:0012145", + "GO:0009790", "UPHENO:0080393", - "UPHENO:0075902", - "UPHENO:0081436", - "UPHENO:0085144", - "HP:0000309", - "UPHENO:0050108", "UPHENO:0005642", "UPHENO:0080382", + "UPHENO:0005433", + "UPHENO:0052178", "UPHENO:0052778", - "HP:0000437", - "UPHENO:0002751", - "UPHENO:0079872", - "HP:0009822", - "UPHENO:0086956", - "UPHENO:0076718", - "HP:0002973", - "UPHENO:0025211", - "HP:0012758", - "UPHENO:0009399", - "HP:0040072", - "HP:0040070", - "UPHENO:0080187", - "HP:0003953", - "UPHENO:0025945", - "UPHENO:0020013", - "HP:0006503", - "HP:0009825", - "UPHENO:0081511", - "UPHENO:0050034", - "UPHENO:0009341", - "UPHENO:0087501", - "UPHENO:0075182", - "UPHENO:0082454", - "UPHENO:0081566", - "UPHENO:0083646", - "HP:0009118", - "HP:0011821", - "HP:0000277", - "UPHENO:0080158", - "UPHENO:0081786", - "HP:0010461", - "UPHENO:0003053", - "HP:0000929", - "HP:0031816", - "UPHENO:0081314", - "UPHENO:0076800", - "UPHENO:0087123", - "UPHENO:0081788", - "UPHENO:0080087", - 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"HP:0007766", + "UPHENO:0087596", + "HP:0008056", + "UBERON:0000122", + "CL:0002242", + "UPHENO:0005986", + "HP:0011400", + "HP:0002060", + "HP:0012372", + "UPHENO:0087472", + "HP:0001713", + "UBERON:0002048", + "UBERON:0001043", + "UBERON:0010913", + "UPHENO:0081786", + "HP:0000478", + "UPHENO:0006910", + "UPHENO:0021037", + "UBERON:5001463", + "UPHENO:0021474", + "UBERON:0001783", + "UPHENO:0085984", + "UBERON:0002336", "HP:0025033", - "UPHENO:0088162", - "HP:0000953", - "HP:0012243", - "HP:0005607", - "UPHENO:0087433", - "UPHENO:0002725", - "HP:0000050", - "UPHENO:0076735", - "UPHENO:0088047", - "HP:0012718", - "UPHENO:0002635", - "UPHENO:0078606", - "HP:0002664", - "UPHENO:0026980", - "UPHENO:0056212", - "HP:0000130", - "UPHENO:0020748", - "HP:0000347", - "HP:0025031", - "HP:0000377", + "UBERON:0000966", + "UPHENO:0069391", + "UBERON:0001017", + "UPHENO:0087355", "UPHENO:0076803", - "UPHENO:0085068", - "UPHENO:0009382", - "HP:0000238", - "UPHENO:0026183", - "HP:0040068", - "UPHENO:0056072", - "HP:0009380", - "HP:0002086", - "UPHENO:0060026", - "HP:0007360", - "UPHENO:0076766", - "UPHENO:0076702", - "HP:0012443", - "UPHENO:0006161", + "HP:0000587", + "UPHENO:0081790", + "HP:0000479", + "HP:0002715", + "UPHENO:0075949", + "UBERON:0000941", + "HP:0012145", + "GO:0048646", + "UPHENO:0087907", + "UPHENO:0002910", + "HP:0001098", + "HP:0000234", + "UBERON:0005388", + "HP:0000271", + "HP:0008058", + "UBERON:0002090", + "HP:0002247", + "HP:0006503", + "UBERON:0002104", + "HP:0012759", "HP:0002118", - "UPHENO:0087430", - "UPHENO:0056333", - "HP:0001511", - "UPHENO:0000543", - "UPHENO:0081784", - "HP:0009823", - "HP:0000957", - "HP:0001034", - "UPHENO:0002907", - "HP:0002011", - "UPHENO:0074575", - "HP:0002692", + "UBERON:0000047", + "UBERON:0004451", + "UBERON:0000170", + "UPHENO:0076805", + "UPHENO:0009399", + "HP:0025461", + "UBERON:0000475", + "UPHENO:0076702", + "UBERON:0002473", + "HP:0012795", + "UPHENO:0056212", + "UPHENO:0021656", + "UBERON:0000073", + "GO:0050890", + "UPHENO:0087614", + "HP:0001629", + "UBERON:0034923", + "NCBITaxon:1", + "UBERON:0000063", + "UPHENO:0021803", + "UPHENO:0076776", + "NCBITaxon:6072", + "UBERON:0005281", + "UPHENO:0014240", + "HP:0000356", + "UPHENO:0005597", + "UBERON:0005282", + "GO:0021782", + "UPHENO:0087433", + "UBERON:0005358", + "UPHENO:0081598", + "GO:0048856", + "UBERON:0001359", + "UPHENO:0088185", + "UPHENO:0076779", + "UPHENO:0020950", + "UPHENO:0085344", + "HP:0002818", + "HP:0002813", + "HP:0002921", + "CL:0000738", + "UBERON:0000160", + "UBERON:0006314", + "UBERON:0002544", + "UBERON:0007779", + "HP:0000598", "UPHENO:0076730", - "UPHENO:0050121", - "UPHENO:0074572", - "UPHENO:0008523", - "UPHENO:0050008", - "UPHENO:0025875", - "UPHENO:0080377", - "BFO:0000020", - "UPHENO:0059829", - "UPHENO:0080221", - "UPHENO:0025100", - "HP:0025668", - "UPHENO:0076739" - ], - "has_phenotype_closure_label": [ - "Abnormality of multiple cell lineages in the bone marrow", - "Abnormality of the immune system", - "abnormal immune system", - "abnormal bone marrow cell morphology", - "increased width of the anatomical entity in independent continuant", - "increased width of anatomical entity", - "Abnormal nasal bridge morphology", - "abnormal size of eyeball of camera-type eye", - "aplasia or hypoplasia of eyeball of camera-type eye", - "Abnormal myelination", - "delayed central nervous system myelination", - "abnormal kidney morphology", - "Abnormality of the upper urinary tract", - "delayed biological_process in independent continuant", - "Renal hypoplasia/aplasia", - "absent kidney", - "abnormal renal system", - "absent kidney in the independent continuant", - "Unilateral renal agenesis", - "abnormal renal system morphology", - "Abnormality of blood and blood-forming tissues", - "abnormal bone marrow cell", - "Anemia", - "Abnormal myeloid cell morphology", - "Renal agenesis", - "abnormal hematopoietic system", - "abnormal hematopoietic cell morphology", - "abnormal external nose morphology", - "abnormal myelination", - "abnormal erythrocyte morphology", - "Depressed nasal tip", - "abnormal nose", - "Abnormal nasal tip morphology", - "abnormal nose morphology", - "Abnormality of male external genitalia", - "abnormal external male genitalia", - "abnormal male reproductive organ morphology", - "decreased size of the penis", - "abnormal male reproductive system", - "penis hypoplasia", - "Abnormality of globe size", - "Abnormal penis morphology", - "Abnormal external genitalia", - "Micropenis", - "abnormal male reproductive system morphology", - "abnormal external male genitalia morphology", - "Bone marrow hypocellularity", - "external male genitalia hypoplasia", - "External genital hypoplasia", - "Abnormal palate morphology", - "abnormal midface morphology", - "abnormal incomplete closing of the anatomical entity", - "abnormal incomplete closing of the secondary palate", - "Craniofacial cleft", - "abnormal oral cavity morphology", - "abnormal opening of the anatomical entity", - "abnormal cerebellum morphology", - "Abnormality of the male genitalia", - "decreased size of the cerebellum", - "Abnormal hindbrain morphology", - "Aplasia/Hypoplasia of the cerebellum", - "abnormal anatomical entity morphology in the brain", - "Abnormal cerebellum morphology", - "abnormality of digestive system physiology", - "Abnormality of digestive system physiology", - "Wide nasal bridge", - "Abdominal symptom", - "alimentary part of gastrointestinal system atresia", - "Neurodevelopmental abnormality", - "Neurodevelopmental delay", - "Abnormality of the uterus", - "aplasia or hypoplasia of uterus", - "Abnormality of the genital system", - "abnormal female reproductive organ morphology", - "abnormal internal female genitalia morphology", - "Aplasia of the uterus", - "Abnormality of the genitourinary system", - "Abnormal morphology of female internal genitalia", - "abnormal female reproductive system", - "Aplasia/hypoplasia of the uterus", - "absent anatomical entity in the reproductive system", - "abnormal female reproductive system morphology", - "absent uterus", - "absent external ear in the independent continuant", - "Anotia", - "decreased developmental process", - "abnormal developmental process", - "decreased embryo development", - "aplasia or hypoplasia of cerebellum", - "changed developmental process rate", - "Abnormal upper limb bone morphology", - "Abnormal erythrocyte morphology", - "aplasia or hypoplasia of radius bone", - "abnormal nose tip morphology", - "Aplasia/hypoplasia involving forearm bones", - "abnormal long bone morphology", - "abnormal limb long bone morphology", - "Aplasia involving bones of the upper limbs", - "absent anatomical entity in the skeletal system", - "Abnormal morphology of the radius", - "absent radius bone in the forelimb", - "Global developmental delay", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Aplasia/Hypoplasia of the radius", - "Absent radius", - "Aplasia/Hypoplasia involving bones of the skull", - "aplasia or hypoplasia of mandible", - "shape nose tip", - "anatomical entity hypoplasia in face", - "Abnormal renal morphology", - "Aplasia/Hypoplasia involving the central nervous system", - "facial bone hypoplasia", - "abnormal axon ensheathment in central nervous system in independent continuant", - "Abnormal jaw morphology", - "bone element hypoplasia in face", - "cerebellum hypoplasia", - "Abnormal skull morphology", - "Abnormality of the mouth", + "UPHENO:0086932", + "UPHENO:0086699", + "UPHENO:0082129", + "HP:0001511", + "UBERON:0002417", + "UPHENO:0049367", + "HP:0000369", + "UBERON:0002105", + "CL:0002092", + "UPHENO:0081466", + "UPHENO:0081783", + "UPHENO:0002903", + "UPHENO:0086045", + "HP:0011875", + "UPHENO:0041226", + "UPHENO:0087846", + "UBERON:0001555", + "UPHENO:0088020", + "GO:0030323", + "UPHENO:0063722", + "UBERON:0019294", + "UPHENO:0076791", + "UPHENO:0075183", + "GO:0030324", + "GO:0060541", + "UBERON:0000171", + "UPHENO:0019970", + "HP:0000924", + "UBERON:0004121", + "GO:0007275", + "UPHENO:0004459", + "UPHENO:0003116", + "GO:0009653", + "HP:0010438", + "GO:0048513", + "GO:0035295", + "UBERON:0004151", + "UPHENO:0087548", + "UBERON:0000061", + "UPHENO:0056333", + "UPHENO:0025211", + "UPHENO:0086049", + "GO:0060462", + "HP:0002101", + "UPHENO:0087018", + "UPHENO:0078603", + "UBERON:0002616", + "UPHENO:0026181", + "UPHENO:0002964", + "UBERON:0001032", + "HP:0012443", + "HP:4000059", + "HP:0001507", + "UPHENO:0049874", + "HP:0001510", + "HP:0002244", + "UPHENO:0080126", + "UBERON:0015204", + "UBERON:0005156", + "UBERON:0010712", + "HP:0000080", + "UPHENO:0003055", + "UPHENO:0066927", + "UBERON:0000990", + "HP:0009380", + "UPHENO:0074228", + "UPHENO:0002595", + "UBERON:0004122", + "HP:0003241", + "HP:0010935", + "UPHENO:0003020", + "UBERON:0005944", + "UBERON:0000991", + "HP:0000818", + "UBERON:0003466", + "UBERON:0000949", + "UBERON:0003834", + "HP:0001876", + "HP:0000118", + "UPHENO:0024906", + "UPHENO:0066972", + "UPHENO:0018426", + "HP:0000078", + "UPHENO:0063639", + "UBERON:0011143", + "UPHENO:0081594", + "HP:0002589", + "UPHENO:0085195", + "UBERON:0034713", + "UPHENO:0063629", + "UPHENO:0076783", + "HP:0010461", + "UPHENO:0086621", + "UPHENO:0085070", + "UBERON:0002114", + "UBERON:0008962", + "UBERON:0001463", + "HP:0012210", + "UPHENO:0001440", + "GO:0030154", + "UBERON:0002113", + "UPHENO:0085118", + "UPHENO:0015280", + "UPHENO:0075902", + "HP:0001881", + "UBERON:0000916", + "UBERON:0005173", + "UPHENO:0026980", + "UPHENO:0008593", + "UPHENO:0083952", + "UBERON:8450002", + "UPHENO:0002934", + "UPHENO:0002803", + "UBERON:0005172", + "UBERON:0001981", + "UPHENO:0082875", + "HP:0000104", + "UBERON:0000055", + "UBERON:0000489", + "UPHENO:0081320", + "UBERON:0001008", + "UBERON:0001637", + "UBERON:0002037", + "UPHENO:0077426", + "HP:0020047", + "UPHENO:0085371", + "UBERON:0000079", + "UBERON:0005970", + "HP:0001871", + "UBERON:0015410", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "UPHENO:0081095", + "UBERON:0010314", + "HP:0001873", + "UBERON:0001018", + "CL:0000458", + "UPHENO:0086854", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "UPHENO:0084761", + "HP:0001872", + "CL:0000457", + "UBERON:0004537", + "UBERON:0000064", + "CL:0000081", + "UBERON:0003951", + "CL:0000763", + "UPHENO:0026028", + "UPHENO:0063565", + "UPHENO:0085302", + "UPHENO:0084928", + "UBERON:0003037", + "CL:0000151", + "UBERON:0002413", + "CL:0000988", + "UPHENO:0087339", + "UPHENO:0087089", + "CL:0000764", + "HP:0010987", + "HP:0005561", + "HP:0011893" + ], + "has_phenotype_closure_label": [ "abnormal embryo development", - "abnormal mouth morphology", - "abnormal jaw skeleton morphology", - "abnormal head bone morphology", - "abnormal facial skeleton morphology", - "abnormal genitourinary system", - "Abnormal foot morphology", - "Bilateral talipes equinovarus", - "Talipes equinovarus", - "Abnormality of the lower limb", - "delayed growth", - "abnormal growth", - "delayed biological_process", - "Growth delay", - "increased anatomical entity length in independent continuant", - "absent external ear", - "abnormal location of eyeball of camera-type eye", - "Abnormality of the urinary system", - "increased length of the anatomical entity", - "abnormal nasal bridge morphology", - "Hypertelorism", - "abnormal upper urinary tract", - "curvature anatomical entity", - "abnormal pes morphology", - "Abnormality of the eye", - "Abnormality of the kidney", - "abnormal eyeball of camera-type eye", - "Esophageal atresia", - "increased size of the anatomical entity in independent continuant", - "absent anatomical entity", - "aplasia or hypoplasia of anatomical entity", - "curvature anatomical entity in independent continuant", - "decreased qualitatively developmental process", - "abnormal external ear morphology", - "abnormal anatomical entity morphology in the independent continuant", - "abnormal immune system morphology", - "Aplasia/Hypoplasia of the mandible", - "Aplasia/hypoplasia involving bones of the extremities", - "agenesis of anatomical entity", - "abnormal digit morphology", - "decreased length of anatomical entity in independent continuant", - "abnormal neck morphology", - "Aplasia/Hypoplasia of the ear", - "abnormal forelimb morphology", - "Abnormality of the musculoskeletal system", - "Cafe-au-lait spot", - "Orofacial cleft", - "Morphological abnormality of the gastrointestinal tract", - "aplasia or hypoplasia of manual digit 1", - "abnormal vertebral column", - "fused sacrum hypoplasia", - "abnormal axial skeleton plus cranial skeleton morphology", - "aplastic forelimb zeugopod bone", - "aplasia or hypoplasia of fused sacrum", - "decreased size of the anatomical entity", - "Abnormal midface morphology", - "Abnormal mandible morphology", - "absent anatomical entity in the limb", - "aplasia or hypoplasia of ear", - "Microphthalmia", - "Abnormal neck morphology", - "abnormal skeletal system", - "Abnormal pinna morphology", - "abnormal hindlimb morphology", - "increased pigmentation in skin of body", - "Abnormality of the ear", - "changed embryo development rate", "Intrauterine growth retardation", - "abnormal manual digit 1 morphology", - "abnormal fused sacrum morphology", - "Abnormal axial skeleton morphology", - "Abnormal facial skeleton morphology", - "Abnormality of the cervical spine", - "Abnormal skeletal morphology", - "abnormal skull morphology", - "abnormal response to stimulus", - "abnormal manual digit morphology in the independent continuant", - "decreased size of the kidney", - "Abnormal eye morphology", - "external ear hypoplasia", - "Hypoplastic sacrum", - "Abnormality of the respiratory system", - "shape anatomical entity in independent continuant", - "anatomical entity hypoplasia in independent continuant", - "esophagus atresia", - "absent radius bone", - "anatomical entity hypoplasia", - "flattened anatomical entity in independent continuant", - "abnormal palpebral fissure", - "absent anatomical entity in the head", - "decreased biological_process", - "Hypoplastic facial bones", - "Aplasia/hypoplasia of the extremities", - "abnormal external ear", - "Talipes", - "abnormal cerebrospinal fluid morphology", - "decreased length of anatomical entity", - "abnormal radius bone morphology", - "Aplasia/Hypoplasia of the external ear", - "Abnormality of the face", - "Abnormal anus morphology", - "abnormal erythroid lineage cell morphology", - "abnormal shape of continuant", - "Growth abnormality", - "abnormal orbital region", - "flat nose tip", - "Micrognathia", - "Abnormality of the skeletal system", - "Abnormality of the ocular adnexa", - "Abnormality of mental function", - "abnormal chromatin organization", - "Chromosome breakage", - "kidney hypoplasia", - "Finger aplasia", - "abnormal reproductive system morphology", - "Phenotypic abnormality", - "quality", - "abnormal nitrogen compound metabolic process", - "abnormal hindbrain morphology", - "absent digit", - "Abnormal cell morphology", - "Hypoplastic male external genitalia", - "phenotype", - "absent external ear in the head", - "decreased length of neck", - "abnormal central nervous system myelination in independent continuant", - "abnormal internal genitalia", - "Aplasia/hypoplasia affecting bones of the axial skeleton", - "abnormal manual digit morphology in the manus", - "abnormal DNA metabolic process", - "Abnormal reproductive system morphology", - "abnormal postcranial axial skeleton morphology", - "abnormal anatomical entity length", - "decreased size of the external male genitalia", - "decreased size of the anatomical entity in the independent continuant", - "Abnormality of the palpebral fissures", - "Abnormal oral cavity morphology", - "abnormal head morphology", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal snout morphology", - "abnormal face", - "abnormal metabolic process", - "Abnormal forearm morphology", - "decreased size of the mandible", - "abnormal anatomical entity", - "Abnormality of the outer ear", - "continuant", - "abnormal craniocervical region morphology", - "abnormal leg", - "Attention deficit hyperactivity disorder", - "abnormal digestive system", - "abnormal integument", - "Morphological central nervous system abnormality", - "abnormal behavior process", - "Abnormality of the nose", - "abnormal brain ventricle morphology", - "abnormal neck", - "Atypical behavior", - "absent manual digit", - "abnormal phenotype by ontology source", - "Abnormality of limb bone morphology", - "Hypoplasia of penis", - "Abnormality of limbs", - "abnormal mandible morphology", - "abnormal brain ventricle/choroid plexus morphology", - "Abnormality of the head", - "abnormal anus", - "Abnormality of the female genitalia", - "abnormal primary metabolic process", - "abnormal external genitalia", - "abnormal size of anatomical entity", - "abnormal organelle organization", + "decreased developmental process", + "changed embryo development rate", + "decreased qualitatively developmental process", + "changed biological_process rate", + "delayed central nervous system myelination", "Abnormal CNS myelination", - "abnormal development of anatomical entity", - "abnormal digit", - "Positional foot deformity", - "Abnormal cerebral ventricle morphology", - "abnormal cellular process", + "oligodendrocyte differentiation", + "gliogenesis", + "oligodendrocyte development", + "abnormal myelination in independent continuant", + "abnormal axon ensheathment in central nervous system in independent continuant", + "axon ensheathment", + "ensheathment of neurons", + "cellular developmental process", + "Delayed CNS myelination", + "glial cell differentiation", + "neurogenesis", + "abnormal central nervous system myelination in independent continuant", + "Delayed myelination", + "abnormal biological_process in nervous system", + "Abnormal fetal cardiovascular morphology", + "Fetal anomaly", + "decreased embryo development", + "abnormal umbilical blood vessel morphology", + "extraembryonic structure", + "Abnormality of the umbilical cord", + "entire extraembryonic component", + "abnormal late embryo", + "Abnormality of prenatal development or birth", + "interventricular septum", + "abnormal cardiac ventricle morphology in the independent continuant", + "Abnormal cardiac ventricle morphology", + "abnormal interventricular septum morphology", + "abnormal incomplete closing of the interventricular septum", "abnormal biological_process in central nervous system", - "abnormal skeletal system morphology", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", - "Slanting of the palpebral fissure", - "increased width of nasal bridge", - "Abnormal tracheobronchial morphology", - "abnormal biological_process", - "aplasia or hypoplasia of external ear", - "abnormal cell", - "abnormal limb morphology", - "abnormal reproductive system", - "Abnormality of head or neck", - "entity", - "abnormal anatomical entity morphology in the appendage girdle complex", - "absent radius bone in the independent continuant", - "Upslanted palpebral fissure", - "Abnormal cellular phenotype", - "Irregular hyperpigmentation", - "Hydrocephalus", - "abnormal behavior", - "Abnormality of digestive system morphology", - "abnormal limb", - "mandible hypoplasia", - "Microtia", - "phenotype by ontology source", - "Abnormal thumb morphology", - "abnormal size of kidney", - "Abnormal eyelid morphology", - "abnormal head", - "abnormally increased number of anatomical entity in the independent continuant", + "primary circulatory organ", + "systemic artery", + "vasculature of organ", + "abnormal artery morphology in the independent continuant", + "heart vasculature", + "trunk blood vessel", + "conceptus", + "circulatory organ", + "abnormal systemic artery morphology", + "vasculature of trunk", + "heart plus pericardium", + "coronary vessel", + "abnormal incomplete closing of the ductus arteriosus", + "thoracic segment blood vessel", + "artery", + "abnormal anatomical entity morphology in the heart", + "Congenital malformation of the great arteries", + "Abnormalities of placenta or umbilical cord", + "forelimb long bone", + "forelimb zeugopod skeleton", + "Aplasia involving forearm bones", + "Aplasia involving bones of the upper limbs", + "Abnormal morphology of the radius", + "radius endochondral element", + "limb long bone", + "absent radius bone in the forelimb", + "absent forelimb zeugopod bone", + "delayed biological_process in central nervous system", + "Abnormal forearm bone morphology", + "umbilical blood vessel", + "abnormal heart morphology", + "abnormal long bone morphology", + "aplasia or hypoplasia of radius bone", + "abnormal forelimb zeugopod morphology", + "absent radius bone", + "abnormal bone of pectoral complex morphology", + "aplastic forelimb zeugopod bone", + "abnormal forelimb zeugopod bone", + "Aplasia/Hypoplasia of the radius", + "embryo development", + "abnormal cardiac ventricle morphology in the heart", + "abnormal radius bone morphology", + "Aplasia involving bones of the extremities", + "Abnormal vertebral morphology", + "Abnormally folded helix", + "surface feature shape anatomical entity", + "pinna", + "Abnormal helix morphology", + "abnormal helix of outer ear morphology", + "folded anatomical entity", + "folded anatomical entity in independent continuant", + "decreased size of the external male genitalia", + "abnormal male reproductive system", + "Abnormal external genitalia", + "intromittent organ", + "external male genitalia", + "male reproductive system", + "abnormal penis morphology", + "Abnormality of male external genitalia", + "abnormal vertebral column morphology", + "abnormal external male genitalia morphology", + "abnormal penis", + "External genital hypoplasia", + "abnormal reproductive system morphology", + "Abnormal penis morphology", + "abnormal male reproductive system morphology", + "decreased size of the penis", + "Abnormal cerebral subcortex morphology", + "Cerebral white matter hypoplasia", + "nervous system development", + "Thin corpus callosum", + "white matter", + "telencephalon", + "abnormal cerebral hemisphere white matter morphology", + "aplasia or hypoplasia of telencephalon", + "Hypoplasia of the corpus callosum", + "cerebral subcortex", + "Abnormal ventricular septum morphology", + "Abnormal cerebral white matter morphology", + "Abnormal cerebral morphology", + "folded helix of outer ear", + "forebrain", + "white matter of forebrain", + "brain commissure", + "abnormal cerebral hemisphere morphology", + "white matter of telencephalon", + "corpus callosum", + "decreased size of the corpus callosum", + "abnormal forebrain morphology", + "cellular process", + "cerebral hemisphere white matter", + "intercerebral commissure", + "nervous system commissure", + "abnormal size of corpus callosum", + "corpus callosum hypoplasia", + "external genitalia", + "cerebellum", + "metencephalon", + "delayed myelination", + "abnormal hindbrain morphology", + "cerebellum hypoplasia", + "segmental subdivision of nervous system", + "forelimb zeugopod", + "Aplasia/Hypoplasia of the cerebellum", + "Cerebellar hypoplasia", + "abnormal cerebellum morphology", + "regional part of nervous system", + "Abnormal metencephalon morphology", + "absent anatomical entity in the skeletal system", "Abnormal cellular physiology", + "Abnormality of metabolism/homeostasis", + "metabolic process", + "abnormal vertebra morphology", + "Esophageal atresia", + "esophagus atresia", + "Bilateral radial aplasia", + "abnormal metencephalon morphology", + "abnormal cardiovascular system morphology", + "abnormal aorta morphology", + "Abnormal reproductive system morphology", + "abnormal cardiovascular system", + "thoracic cavity blood vessel", + "helix of outer ear", + "arterial blood vessel", + "Abnormality of the cardiovascular system", + "aortic system", + "Abnormality of cardiovascular system morphology", + "Abnormal aortic morphology", + "aorta", + "Abnormal blood vessel morphology", + "Abnormality of the vasculature", + "abnormal great vessel of heart morphology", + "cardiovascular system", + "Coarctation of aorta", + "blood vasculature", + "arterial system", + "outflow tract", + "blood vessel", + "Abnormal morphology of the great vessels", + "immune system", + "oxygen accumulating cell", + "bone cell", + "nucleate cell", + "abnormal cardiac ventricle morphology", + "motile cell", + "abnormal face", + "Abnormality of mental function", "abnormality of nervous system physiology", - "abnormal face morphology", - "abnormal digestive system morphology", - "abnormal myeloid cell morphology", - "increased biological_process", - "abnormal nervous system", - "Neoplasm", - "Anal atresia", - "specifically dependent continuant", - "abnormal anatomical entity morphology", - "abnormal hematopoietic system morphology", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "Abnormality of the nervous system", + "axial skeleton plus cranial skeleton", + "forelimb zeugopod bone", + "nervous system", + "renal system", + "nervous system process", + "system process", + "biological_process", + "Abnormal optic nerve morphology", + "abnormality of anatomical entity physiology", + "anatomical entity atresia", + "bone marrow", + "Intellectual disability", + "proximo-distal subdivision of respiratory tract", + "anatomical structure morphogenesis", + "Abnormality of the digestive system", + "Abnormality of the respiratory system", + "Abnormal esophagus morphology", + "Abnormal tracheobronchial morphology", + "thoracic segment of trunk", + "abnormal digit", + "subdivision of digestive tract", + "delayed biological_process", + "respiratory airway", + "pectoral complex", + "anatomical cluster", "Aplasia/Hypoplasia affecting the eye", - "Abnormal nervous system physiology", - "Feeding difficulties", + "abnormal incomplete closing of the anatomical entity", "abnormal alimentary part of gastrointestinal system morphology", "abnormal esophagus morphology", - "Abnormal internal genitalia", - "abnormal eyelid morphology", - "Abnormality of the nervous system", - "delayed biological_process in central nervous system", - "changed biological_process rate", - "increased biological_process in skin of body", - "abnormal biological_process in independent continuant", + "thoracic cavity element", + "Abnormal systemic arterial morphology", + "hematopoietic system", + "Single umbilical artery", + "developing anatomical structure", + "Abnormal location of ears", + "abnormal nervous system", + "Abnormality of the vertebral column", + "retina", + "trunk region element", + "endoderm-derived structure", + "abnormal cerebral subcortex morphology", + "respiratory tube", + "cell development", + "skeleton of manus", + "abnormal tracheobronchial tree morphology", + "abnormal manus morphology", + "Neurodevelopmental abnormality", + "subdivision of organism along appendicular axis", + "umbilical cord", + "autopodial skeleton", + "penis hypoplasia", + "limb endochondral element", + "paired limb/fin skeleton", + "postcranial axial skeletal system", + "lung lobe formation", + "abnormal digit morphology", "Absent forearm bone", - "abnormal ocular adnexa morphology", - "flattened anatomical entity", - "Aplasia involving forearm bones", - "Abnormality of globe location", - "Abnormality of skin pigmentation", - "abnormal forelimb zeugopod bone", - "Abnormal ocular adnexa morphology", - "Abnormality of the orbital region", + "abnormal manual digit 1 morphology", + "absent anatomical entity", + "abnormal coronary vessel morphology", + "tracheobronchial tree", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "abnormal skeletal system morphology", + "segment of manus", + "protein-containing material entity", + "abnormal manus", + "abnormally increased number of brain ventricle in the independent continuant", + "cognition", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "tube", + "brain white matter", + "abnormal developmental process", + "appendage", + "root", + "abnormal limb bone morphology", + "abnormal shape of external ear", + "agenesis of anatomical entity", + "multi-limb segment region", + "abnormal postcranial axial skeleton morphology", + "abnormal anatomical entity length", + "axon ensheathment in central nervous system", + "compound organ", + "eye", + "abnormal ductus arteriosus morphology", + "manual digit plus metapodial segment", + "digit", + "head", + "Abnormal digit morphology", + "Absent thumb", + "abnormal autopod region morphology", + "Low-set ears", + "abnormal ear", + "aplastic anatomical entity", + "anterior region of body", + "Aplasia/hypoplasia involving bones of the hand", + "decreased size of the optic disc", + "absent anatomical entity in the renal system", + "cell", + "genitourinary system", + "abnormal male reproductive organ morphology", + "occurrent", + "organ", + "appendicular skeleton", + "Abnormal cerebellum morphology", + "upper limb segment", + "limb skeleton subdivision", + "digestive tract", + "vessel", + "lateral structure", + "arm", + "abnormal head morphology", + "manual digit", + "Abnormal eye morphology", + "cell differentiation", + "appendicular skeletal system", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "abnormal size of brain ventricle", + "vertebral element", + "viscus", + "abnormal respiratory system morphology", + "Aplasia/hypoplasia of the extremities", + "abnormally decreased functionality of the anatomical entity", + "forelimb skeleton", + "endocrine system", + "radius bone", + "Abnormality of the hand", + "Abnormal vascular morphology", + "abnormal arm", + "Phenotypic abnormality", + "abnormal anatomical entity morphology in the retina", + "bone of pectoral complex", + "decreased length of anatomical entity", + "zeugopodial skeleton", + "abnormal cerebrospinal fluid morphology", + "reproductive organ", + "abnormal anatomical entity morphology in the manus", + "skeleton of pectoral complex", + "decreased length of anatomical entity in independent continuant", + "abnormally decreased number of hematopoietic cell", + "phenotype by ontology source", + "Abnormality of head or neck", + "Abnormality of the musculoskeletal system", + "abnormally decreased number of myeloid cell", + "anatomical collection", + "endochondral bone", + "Abnormal cardiac septum morphology", + "subdivision of skeleton", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal neck morphology", + "abnormal manual digit morphology in the manus", + "postcranial axial skeleton", + "abnormal external ear morphology", + "Abnormal finger morphology", + "cervical vertebra endochondral element", + "decreased length of neck", + "segmental subdivision of hindbrain", + "digit 1 or 5", + "Abnormal myeloid cell morphology", + "abnormal vertebral column", + "entity", + "abnormal anatomical entity morphology", + "forelimb endochondral element", + "abnormal duodenum morphology", + "abnormal external genitalia", + "Abnormal renal morphology", + "vertebral column", "absent anatomical entity in the multicellular organism", - "decreased size of the eyeball of camera-type eye", - "Abnormality of skin morphology", - "abnormal camera-type eye morphology", + "long bone", + "material entity", + "Abnormal appendicular skeleton morphology", + "thoracic segment organ", + "musculoskeletal system", + "Abnormality of the eye", + "axon tract", + "abnormal upper urinary tract", + "Abnormality of the gastrointestinal tract", + "absent digit", + "glial cell development", + "Abnormal hindbrain morphology", + "phenotype", + "Abnormal cell morphology", + "Micropenis", + "Metazoa", + "Abnormal hand morphology", + "cardiac ventricle", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "Abnormal ear morphology", + "abnormal digestive system", + "Abnormality of the cervical spine", + "Abnormal skeletal morphology", + "Abnormal forebrain morphology", + "forelimb", + "material anatomical entity", + "skeleton of limb", + "abnormal systemic arterial system morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "Short neck", + "embryonic cardiovascular system", + "organism subdivision", + "Aplasia/hypoplasia involving the skeleton", + "optic disc hypoplasia", + "decreased qualitatively biological_process", + "anatomical entity", + "abnormal anatomical entity", + "skeletal system", + "Opisthokonta", + "abnormal axial skeleton plus cranial skeleton morphology", + "tissue", + "cervical vertebra", + "penis", + "digestive system element", + "abnormal size of anatomical entity", + "Abnormality of thrombocytes", + "abnormal craniocervical region morphology", + "Abnormality of chromosome stability", + "anatomical entity dysfunction in independent continuant", + "continuant", + "absent radius bone in the independent continuant", + "systemic arterial system", + "neck bone", + "entire sense organ system", + "absent anatomical entity in the limb", + "abnormal blood vessel morphology", + "lung", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "abnormal limb morphology", + "anatomical conduit", + "heart", + "Abnormality of the head", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "anatomical structure", + "craniocervical region", + "abnormal development of anatomical entity", + "Abnormal thumb morphology", + "subdivision of trunk", + "decreased size of the cerebellum", + "abnormal phenotype by ontology source", + "subdivision of vertebral column", + "absent manual digit", + "abnormal trachea morphology", + "male organism", + "abnormal appendicular skeleton morphology", + "bone element", + "decreased size of the anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the optic nerve", + "abnormal cellular process", + "secretory cell", + "autopodial extension", + "manual digit 1", + "abnormal platelet", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal immune system morphology", + "Cognitive impairment", + "abnormal central nervous system myelination", + "organ subunit", + "obsolete cell", + "digestive system", + "skeleton", + "abnormal artery morphology", + "Abnormal forearm morphology", + "vertebra", + "upper digestive tract", + "anatomical system", + "abnormal neck morphology", + "quality", + "abnormal alimentary part of gastrointestinal system", + "organ system subdivision", + "embryo", + "abnormal blood cell", + "erythrocyte", + "Abnormal tracheal morphology", + "abnormal respiratory tube morphology", + "dorsum", + "digit plus metapodial segment", + "Fetal ultrasound soft marker", + "abnormal neck", + "abnormal brain ventricle morphology", + "endochondral element", + "bone of dorsum", + "Abnormality of the neck", + "limb bone", + "abnormal limb bone", + "Abnormal nervous system morphology", + "sense organ", + "limb", + "increased size of the anatomical entity", "abnormal number of anatomical enitites of type anatomical entity", - "aplasia or hypoplasia of vertebral column", - "flat anatomical entity", - "Aplasia/hypoplasia involving the skeleton", - "abnormal penis morphology", - "abnormal roof of mouth morphology", - "abnormal anatomical entity morphology in the manus", - "Abnormal appendicular skeleton morphology", - "abnormal cervical vertebra", + "Abnormal retinal morphology", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "shape helix of outer ear", + "abnormal digestive system morphology", + "abnormal forelimb morphology", "aplastic manual digit 1", - "Abnormal finger morphology", + "abnormal cervical vertebra", + "Abnormal fetal morphology", + "commissure of telencephalon", + "abnormal intestine morphology", + "independent continuant", + "abnormal leukocyte morphology", + "multicellular organism development", + "reproductive system", + "main body axis", + "abnormal kidney morphology", + "neck", "Aplasia/Hypoplasia of fingers", - "Abnormal digit morphology", - "abnormal ear", - "abnormal autopod region morphology", - "Absent thumb", - "aplastic anatomical entity", - "abnormal bone of pectoral complex morphology", - "abnormal cellular metabolic process", - "abnormal respiratory system", - "Abnormality of limb bone", - "flat anatomical entity in independent continuant", + "delayed biological_process in independent continuant", + "digitopodium region", + "subdivision of tube", + "aplasia or hypoplasia of manual digit 1", + "system", + "circulatory system", + "bone marrow cell", + "Morphological abnormality of the gastrointestinal tract", "absent anatomical entity in the forelimb", - "abnormal arm", - "absent anatomical entity in the renal system", - "Abnormality of the upper limb", - "Abnormal nasal morphology", - "Aplasia/hypoplasia involving bones of the hand", - "Abnormal erythroid lineage cell morphology", - "bone element hypoplasia in independent continuant", - "Delayed CNS myelination", - "Hyperactivity", + "multicellular anatomical structure", + "skeletal element", + "bone of appendage girdle complex", + "anatomical wall", + "limb segment", + "abnormal anatomical entity morphology in the independent continuant", + "brain", + "abnormal limb", + "manus", + "abnormal number of anatomical enitites of type myeloid cell", + "Abnormality of digestive system morphology", + "tube development", + "acropodium region", + "subdivision of organism along main body axis", + "small intestine", + "ductus arteriosus", + "abnormal opening of the anatomical entity", + "dorsal region element", + "body proper", + "respiratory system", + "pectoral appendage", + "abnormal hematopoietic system morphology", + "system development", + "multicellular organismal process", + "organ part", + "growth", + "Aplasia/hypoplasia involving bones of the upper limbs", + "absent kidney in the renal system", + "Abnormality of limb bone morphology", + "paired limb/fin", + "abnormal optic disc morphology", + "Hypoplasia of penis", + "animal organ development", + "Abnormality of limbs", + "trunk or cervical vertebra", + "Renal hypoplasia/aplasia", + "mesoderm-derived structure", + "Aplasia/Hypoplasia of the cerebrum", + "autopod region", + "Abnormal corpus callosum morphology", + "irregular bone", + "organism", + "abnormal myelination", + "abnormal anatomical entity morphology in the pectoral complex", + "abnormally increased number of anatomical entity in the cerebrospinal fluid", + "decreased biological_process", + "aplasia or hypoplasia of anatomical entity", + "shape anatomical entity in independent continuant", + "abnormal manual digit morphology in the independent continuant", + "abnormal cranial nerve II morphology", + "vestibulo-auditory system", + "hematopoietic cell", + "cranial neuron projection bundle", + "abnormal vascular system morphology", + "photoreceptor array", + "Aplastic anemia", + "sensory system", + "abnormal growth", + "abnormal ocular fundus morphology", + "gonad", + "abnormal reproductive system", + "abnormal kidney", + "abnormal retina morphology", + "great vessel of heart", + "abnormal myeloid cell morphology", + "camera-type eye", + "chorioretinal region", + "abnormal immune system", + "Abnormal umbilical cord blood vessel morphology", + "Eukaryota", + "Eumetazoa", + "surface feature shape anatomical entity in independent continuant", + "Abnormal optic disc morphology", + "abnormal face morphology", + "anatomical entity hypoplasia in face", + "ear", + "external male genitalia hypoplasia", + "brain ventricle/choroid plexus", + "aplasia or hypoplasia of cranial nerve II", + "non-connected functional system", + "neuron projection bundle", + "abnormal corpus callosum morphology", + "abnormal orbital region", + "cardiac chamber", "aplasia or hypoplasia of manual digit", - "abnormal appendicular skeleton morphology", - "decreased qualitatively biological_process", - "abnormal cellular component organization", - "abnormal trachea morphology", - "shape anatomical entity", - "Abnormal respiratory system morphology", - "Aplasia/Hypoplasia of facial bones", - "decreased size of the external ear", - "Abnormality of the hand", - "Aplasia/Hypoplasia of the thumb", - "absent anatomical entity in the ear", - "absent anatomical entity in the independent continuant", - "Neoplasm by anatomical site", - "abnormal mouth", - "Abnormal ear morphology", - "abnormal craniocervical region", - "aplasia or hypoplasia of skeleton", - "abnormal manus morphology", - "abnormal secondary palate morphology", - "abnormal shape of external ear", - "Reduced attention regulation", - "abnormal limb bone morphology", - "Cerebellar hypoplasia", - "Abnormal metencephalon morphology", - "Aplasia/Hypoplasia of the sacrum", - "Abnormal sacrum morphology", - "Abnormality of the neck", - "abnormal vertebral column morphology", - "Abnormal external nose morphology", - "Aplasia/Hypoplasia involving the vertebral column", - "Low-set ears", + "face", + "axial skeletal system", + "Growth abnormality", + "abnormal size of optic disc", + "regional part of brain", + "Abnormal posterior eye segment morphology", + "Abnormality of the genital system", + "cervical region", + "Optic disc hypoplasia", + "central nervous system myelination", + "abnormal posterior segment of eyeball morphology", + "forelimb bone", + "anatomical entity hypoplasia", + "simple eye", + "trachea", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Aplasia/Hypoplasia affecting the fundus", + "lung morphogenesis", + "Abnormal platelet count", + "Abnormality of the orbital region", + "Hypergonadotropic hypogonadism", + "respiratory system development", + "Ventricular septal defect", + "cerebral hemisphere", + "abnormal eyeball of camera-type eye", + "Abnormality of the kidney", + "ectoderm-derived structure", + "multi cell part structure", + "optic disc", + "Abnormality of limb bone", + "central nervous system", + "All", + "posterior segment of eyeball", + "cerebrospinal fluid", + "central nervous system cell part cluster", + "Abnormality of the face", + "abnormal nervous system morphology", + "cranial nerve II", + "central nervous system development", + "esophagus", + "hemolymphoid system", + "orbital region", + "Abnormality of the ear", "Tracheoesophageal fistula", + "Neoplasm", + "Abnormal intestine morphology", + "abnormal camera-type eye morphology", + "Pancytopenia", + "abnormal head", + "Aplasia/Hypoplasia of the corpus callosum", + "appendage girdle complex", + "subdivision of head", + "Abnormality of brain morphology", + "ventricular system of brain", + "shape anatomical entity", + "anatomical entity hypoplasia in independent continuant", + "Puberty and gonadal disorders", + "Aplasia/Hypoplasia of the cerebral white matter", + "visual system", + "abnormal external male genitalia", + "abnormal anatomical entity morphology in the brain", + "myelination", + "vascular system", + "abnormally increased number of brain ventricle in the cerebrospinal fluid", "abnormally increased number of anatomical entity", - "abnormal respiratory system morphology", - "increased length of the anatomical line between pupils", - "Abnormality of the digestive system", - "Abnormal esophagus morphology", - "abnormal myelination in independent continuant", - "Aplasia involving bones of the extremities", - "All", - "increased qualitatively biological_process", - "aplasia or hypoplasia of skull", - "abnormal skin of body morphology", - "Abnormal tracheal morphology", - "absent forelimb zeugopod bone", - "abnormal respiratory tube morphology", - "delayed myelination", - "Chromosomal breakage induced by crosslinking agents", - "abnormal tracheobronchial tree morphology", - "abnormal biological_process in nervous system", - "abnormal alimentary part of gastrointestinal system", - "Abnormality of metabolism/homeostasis", - "abnormal anus morphology", - "increased size of the anatomical entity", - "abnormal limb bone", - "Abnormal nervous system morphology", - "Delayed myelination", + "abnormal umbilical cord", + "structure with developmental contribution from neural crest", + "Abnormal cerebral ventricle morphology", + "Abnormal cellular immune system morphology", + "abnormal cardiac septum morphology", + "organism substance", + "multi-tissue structure", + "bodily fluid", + "abnormal brain white matter morphology", + "Abnormality of the outer ear", + "ventricular system of central nervous system", + "abnormal brain ventricle/choroid plexus morphology", + "Hydrocephalus", + "ventricle of nervous system", + "increased size of the anatomical entity in independent continuant", + "Absent radius", + "Abnormal cerebrospinal fluid morphology", + "eyeball of camera-type eye", + "brain ventricle", + "aplasia or hypoplasia of cerebellum", + "abnormally increased number of anatomical entity in the independent continuant", + "abnormal central nervous system morphology", + "transudate", + "organ component layer", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "abnormal anatomical entity topology in independent continuant", + "abnormal external ear", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "cellular organisms", + "Abnormal lung morphology", + "Decreased anatomical entity position", + "abnormal ear morphology", + "abnormal location of external ear", + "abnormal telencephalon morphology", + "external ear", + "late embryo", + "Gastrointestinal atresia", + "abnormal location of anatomical entity", + "lower respiratory tract", + "abnormal bone marrow morphology", + "Patent ductus arteriosus", + "dorsal part of neck", + "Abnormal pinna morphology", + "Decreased external ear position", + "platelet", + "abnormal location of ear", + "Abnormal lung development", + "manual digit 1 or 5", + "developmental process", + "abnormal lung lobe formation", + "abnormal lung morphology", + "respiratory tube development", + "Aplasia/hypoplasia involving forearm bones", + "lung development", + "tract of brain", + "abnormally decreased functionality of the gonad", + "zeugopod", + "pair of lungs", + "Abnormal lung lobation", + "Hypoplastic male external genitalia", + "anatomical structure development", + "anatomical structure formation involved in morphogenesis", + "lung lobe development", + "segment of autopod", + "respiration organ", + "delayed growth", + "aplasia or hypoplasia of eyeball of camera-type eye", + "Hypogonadism", + "glandular system", + "blood cell", + "Abnormality of the genitourinary system", + "hindbrain", + "animal organ morphogenesis", + "abnormal endocrine system", + "Abnormality of the endocrine system", + "reproductive structure", + "Abnormal myelination", + "Abnormal heart morphology", + "abnormality of reproductive system physiology", + "changed developmental process rate", + "dorsal telencephalic commissure", + "abnormal brain commissure morphology", + "abnormal vasculature", + "abnormal genitourinary system", + "Abnormality of reproductive system physiology", + "abnormal small intestine", + "Abnormal duodenum morphology", + "abnormal axon tract morphology", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "Duodenal atresia", + "respiratory tract", + "alimentary part of gastrointestinal system atresia", + "aplasia or hypoplasia of corpus callosum", + "abnormal closing of the anatomical entity", + "arm bone", + "Intestinal atresia", + "ocular fundus", + "abnormal cell morphology", + "abnormal anatomical entity morphology in the alimentary part of gastrointestinal system", + "vasculature", + "duodenum atresia", + "Abnormal small intestine morphology", + "intestine atresia", + "duodenum", + "intestine", + "Abnormality of the male genitalia", + "manual digitopodium region", + "cervical region of vertebral column", + "Abnormal respiratory system morphology", + "upper urinary tract", + "Abnormality of blood and blood-forming tissues", + "increased size of the brain ventricle", + "septum", + "paired limb/fin segment", + "Ventriculomegaly", + "subdivision of skeletal system", + "absent kidney in the independent continuant", + "abnormal dorsal telencephalic commissure morphology", + "alimentary part of gastrointestinal system", + "abnormal renal system morphology", + "abnormal biological_process", + "Growth delay", + "kidney", + "abnormal renal system", + "abnormal respiratory system", + "Renal agenesis", + "abnormal hematopoietic system", + "abdomen element", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "excretory system", + "Abnormality of the upper urinary tract", + "manual digit 1 plus metapodial segment", + "abdomen", + "lung lobe morphogenesis", + "abdominal segment of trunk", + "abdominal segment element", + "absent kidney", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "digit 1", + "abnormal platelet morphology", + "multicellular organism", + "Thrombocytopenia", + "Abnormal nervous system physiology", + "Abnormality of the immune system", + "Abnormal cellular phenotype", + "myeloid cell", + "Overfolded helix", + "Abnormal leukocyte morphology", + "Abnormal platelet morphology", + "pectoral appendage skeleton", + "abnormal blood cell morphology", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", + "abnormally decreased number of cell", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "abnormal hematopoietic cell morphology", "abnormal brain morphology", - "Abnormality of brain morphology", - "abnormal manus", - "abnormally increased number of brain ventricle in the independent continuant", - "abnormal anatomical entity morphology in the pectoral complex", - "abnormally increased number of anatomical entity in the cerebrospinal fluid", - "abnormal central nervous system myelination", - "abnormal closing of the anatomical entity", - "abnormally increased number of brain ventricle in the cerebrospinal fluid", - "abnormal cell morphology", - "abnormal nervous system morphology", - "Abnormal cerebrospinal fluid morphology", - "abnormal kidney", - "Abnormality of chromosome stability", - "abnormal central nervous system morphology", - "abnormal ocular adnexa", - "abnormal location of ear", - "Decreased external ear position", - "abnormal anatomical entity topology in independent continuant", - "Reduced impulse control", - "Short attention span", - "abnormal location of external ear", - "Abnormal location of ears", - "abnormal ear morphology", - "Decreased anatomical entity position", - "Abnormality of the gastrointestinal tract", - "Webbed neck", - "Gastrointestinal atresia", - "Abnormality of the vertebral column", - "Macule", - "Abnormal oral morphology", - "increased pigmentation in independent continuant", - "increased pigmentation", - "abnormal pigmentation", - "Renal hypoplasia", - "increased qualitatively biological_process in independent continuant", + "abnormal number of anatomical enitites of type platelet", + "cardiac septum", + "anucleate cell", + "leukocyte", + "specifically dependent continuant", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal fundus morphology", "Abnormality of bone marrow cell morphology", - "Abnormality of the integument", - "abnormal skin of body", - "Cleft palate", - "Abnormal hand morphology", - "Localized skin lesion", - "abnormal bone marrow morphology", - "abnormal location of anatomical entity", - "Hypermelanotic macule", - "absent kidney in the renal system", - "Aplasia/hypoplasia involving bones of the upper limbs", - "increased biological_process in independent continuant", - "Hyperpigmentation of the skin", - "abnormal penis", - "abnormal uterus", - "Abnormality of the skin", - "abnormal metencephalon morphology", - "Abnormal forearm bone morphology", - "Short neck", - "abnormal pigmentation in independent continuant", - "abnormal forelimb zeugopod morphology", - "changed biological_process rate in independent continuant", - "anus atresia", - "abnormality of anatomical entity physiology", - "anatomical entity atresia", - "Abnormality of the anus" + "cavitated compound organ", + "Abnormal leukocyte count", + "heart blood vessel", + "abnormal limb long bone morphology", + "abnormal small intestine morphology", + "eukaryotic cell" ], - "has_phenotype_count": 36, + "has_phenotype_count": 30, "highlight": null, "score": null }, { - "id": "MONDO:0014638", + "id": "MONDO:0013499", "category": "biolink:Disease", - "name": "Fanconi anemia complementation group T", + "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 UBE2T gene.", - "xref": ["DOID:0111081", "GARD:16111", "OMIM:616435", "UMLS:C4084840"], + "description": "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene.", + "xref": ["DOID:0111092", "GARD:15731", "OMIM:613951"], "provided_by": "phenio_nodes", "in_taxon": null, "in_taxon_label": null, "symbol": null, "synonym": [ - "FANCT", - "Fanconi Anemia, complementation group type T", - "Fanconi anaemia caused by mutation in UBE2T", - "Fanconi anaemia complementation group type T", - "Fanconi anemia caused by mutation in UBE2T", - "Fanconi anemia complementation group type T", - "Fanconi anemia, complementation group T", - "UBE2T Fanconi anaemia", - "UBE2T 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:0004808", + "HP:0002984", + "HP:0009777", + "HP:0000957", + "HP:0000252", + "HP:0002860", + "HP:0001510", + "HP:0000581", "HP:0001876", - "HP:0001873", + "HP:0000347", "HP:0009778", - "HP:0005528", - "HP:0009942", + "HP:0000414", "HP:0001903", + "HP:0012745", + "HP:0000085", "HP:0003221", "HP:0004322", "HP:0000365", - "HP:0010628" + "HP:0000028", + "HP:0000125", + "HP:0001045" ], "has_phenotype_label": [ - "Acute myeloid leukemia", + "Hypoplasia of the radius", + "Absent thumb", + "Cafe-au-lait spot", + "Microcephaly", + "Squamous cell carcinoma", + "Growth delay", + "Blepharophimosis", "Pancytopenia", - "Thrombocytopenia", + "Micrognathia", "Short thumb", - "Bone marrow hypocellularity", - "Duplication of thumb phalanx", + "Bulbous nose", "Anemia", + "Short palpebral fissure", + "Horseshoe kidney", "Chromosomal breakage induced by crosslinking agents", "Short stature", "Hearing impairment", - "Facial palsy" + "Cryptorchidism", + "Pelvic kidney", + "Vitiligo" ], "has_phenotype_closure": [ - "HP:0012638", - "UPHENO:0002433", - "HP:0010827", - "HP:0000271", - "UPHENO:0076772", - "UPHENO:0078730", - "HP:0011804", - "HP:0010628", - "UPHENO:0004508", - "HP:0000301", - "UPHENO:0003587", - "UPHENO:0076722", - "UPHENO:0081709", - "UPHENO:0087907", - "UPHENO:0080556", - "HP:0410008", - "HP:0000759", - "UPHENO:0076702", - "HP:0003011", - "HP:0000364", - "UPHENO:0002903", - "UPHENO:0052178", - "HP:0012639", - "UPHENO:0050625", - "HP:0000152", - 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"HP:0020047", + "UPHENO:0002903", + "UPHENO:0081466", + "CL:0002092", + "UPHENO:0085070", + "GO:0065007", + "UPHENO:0087355", "HP:0012145", - "UPHENO:0075159", + "UPHENO:0085371", + "UPHENO:0086045", + "HP:0011875", "UPHENO:0087339", - "UPHENO:0015280", - "UPHENO:0076740", + "UBERON:0000079", + "HP:0001871", + "UPHENO:0085984", + "HP:0002715", + "UBERON:0000479", + "UPHENO:0079876", + "UBERON:0001007", + "UBERON:0001690", + "UPHENO:0086173", + "UBERON:0004375", + "HP:0011873", + "CL:0000232", + "CL:0000458", + "UPHENO:0087089", + "CL:0000764", "UPHENO:0063722", - "HP:0001872", - "HP:0005927", - "UPHENO:0000543", - "HP:0004377", - "UPHENO:0085344", "HP:0001881", - "UPHENO:0049874", - "UPHENO:0086049", - "HP:0000924", + "GO:0016043", + "UPHENO:0015280", + "UPHENO:0075902", + "UBERON:0002100", + "UPHENO:0076675", + "HP:0025354", + "HP:0005561", + "HP:0011893", "HP:0010987", - "HP:0001877", - "HP:0001909", - "HP:0045010", - "HP:0001324", - "HP:0002488", - "HP:0002664", - "UPHENO:0050845", - "BFO:0000020", - "HP:0011842", - "UPHENO:0087123", - "HP:0006265", - "UPHENO:0076727", - "BFO:0000001", - "HP:0009997", - "HP:0001873", - "HP:0006496", + "UPHENO:0002597", + "UPHENO:0002764", + "UPHENO:0076941", + "GO:0032502", + "UPHENO:0002832", "HP:0032251", - "UPHENO:0080352", - "UPHENO:0076692", - "UPHENO:0085070", - "UPHENO:0002844", - "UPHENO:0001002", - "HP:0005528", - "HP:0011793", - "UPHENO:0002948", - "UPHENO:0001005", - "HP:0040064", - "UPHENO:0000541", - "UPHENO:0086005", - "UPHENO:0086635", - "HP:0000118", - "UPHENO:0076710", - "HP:0001172", - "HP:0011805", - "UPHENO:0082875", - "HP:0004322", - "UPHENO:0046707", - "UPHENO:0079876", - "UPHENO:0001003", - "UPHENO:0004459", - "UPHENO:0031839", - "BFO:0000002", - "UPHENO:0052231", - "UPHENO:0002536", - "HP:0001291", - "UPHENO:0021800", - "HP:0045060", - "HP:0011799", - "HP:0004808", + "UPHENO:0026028", "UPHENO:0084928", - "UPHENO:0002320", - "UPHENO:0087355", - "HP:0005561", - "HP:0025461", - "UPHENO:0085189", - "UPHENO:0069254", - "UPHENO:0076718", - "UPHENO:0046624", - "HP:0000001", - "PATO:0000001", - "UPHENO:0050620", - "HP:0002715", - "UPHENO:0076703", - "UPHENO:0088166", - "HP:0011875", - "UPHENO:0002964", + "UPHENO:0085302", + "CL:0000000", + "UPHENO:0002948", + "CL:0000457", + "UBERON:0000064", + "CL:0000081", + "CL:0000763", + "HP:0031816", + "CL:0000233", + "UBERON:0013522", + "UBERON:0001710", + "UBERON:0019231", + "UBERON:0010364", + "UPHENO:0020950", + "HP:0000581", + "UPHENO:0085344", + "UPHENO:0076779", + "CL:0000255", "UPHENO:0080099", - "UPHENO:0080351", - "UPHENO:0046411", - "HP:0002813", - "UPHENO:0020584", - "HP:0020047", - "HP:0011893", - "UPHENO:0086173", - "UPHENO:0002908", - "UPHENO:0075195", - "HP:0011927", - "HP:0004275", - "UPHENO:0085118", - "HP:0011297", - "UPHENO:0005116", - "HP:0040070", - "HP:0040068", - "UPHENO:0085195", - "HP:0009381", - "UPHENO:0076724", - "UPHENO:0002880", - "UPHENO:0076675", + "CL:0000219", + "CL:0002242", + "UPHENO:0075997", + "UBERON:0002371", + "UPHENO:0081091", + "UPHENO:0080165", + "HP:0009122", + "HP:0011821", + "HP:0009118", + "UBERON:0010313", + "CL:0000015", "UPHENO:0002830", - "UPHENO:0068971", - "UPHENO:0002905", - "UPHENO:0086589", + "UBERON:0004288", + "UBERON:0011595", + "UBERON:0004088", + "UBERON:0000025", + "UBERON:0003457", + "GO:0071840", + "HP:0002818", + "HP:0002813", + "HP:0000277", + "UPHENO:0046411", + "UPHENO:0081786", + "UBERON:0011158", + "UBERON:0003135", + "HP:0009116", + "HP:0000347", + "HP:0025031", + "UBERON:0001684", + "UBERON:0015021", + "UBERON:0001708", "UPHENO:0002896", - "HP:0000365", - "UPHENO:0084448", - "UPHENO:0084763", - "HP:0009778", - "UPHENO:0084761", - "UPHENO:0088186", - "UPHENO:0086633", - "HP:0001167", - "HP:0001507", - "HP:0009601", - "UPHENO:0080126", - "UPHENO:0084766", - "UPHENO:0077426", - "UPHENO:0087006", - "HP:0001155", - "HP:0000707", - "HP:0002817", - "UPHENO:0086172", - "HP:0011844", - "HP:0009115", + "GO:0043933", + "UBERON:0012360", + "GO:0006725", "UPHENO:0087501", - "UPHENO:0084447" + "UPHENO:0076800", + "HP:0034261", + "UPHENO:0053644", + "UBERON:0007842", + "UPHENO:0087924", + "UBERON:0007914", + "HP:0025033", + "UBERON:0004768", + "UPHENO:0081141", + "UPHENO:0076692", + "UPHENO:0069249", + "UPHENO:0076803", + "UPHENO:0011498", + "UBERON:0004381", + "UPHENO:0046624", + "HP:0009381", + "GO:0050877", + "HP:0011927", + "GO:0031326", + "UPHENO:0065599", + "UPHENO:0087907", + "UBERON:0034929", + "GO:0008150", + "UBERON:0006983", + "UPHENO:0084727", + "OBI:0100026", + "UPHENO:0001072", + "UPHENO:0076805", + "UPHENO:0088168", + "UBERON:0002268", + "UBERON:0000466", + "UPHENO:0084715", + "UBERON:0002470", + "UBERON:0007827", + "UPHENO:0087430", + "CL:0000300", + "HP:0012130", + "UBERON:0011143", + "UBERON:0005177", + "UPHENO:0041629", + "UPHENO:0087427", + "UBERON:0000916", + "HP:0100542", + "UPHENO:0074572", + "UBERON:0002417", + "UPHENO:0082129", + "UBERON:0005173", + "UBERON:0008962", + "UBERON:0008907", + "UBERON:0001463", + "HP:0012210", + "UBERON:8450002", + "UPHENO:0002595", + "UBERON:0004122", + "UPHENO:0002907", + "HP:0010935", + "UBERON:0002398", + "UBERON:0009569", + "HP:0000085", + "UBERON:0010323", + "UBERON:0000489", + "UPHENO:0041226", + "UBERON:0001008", + "UPHENO:0050113", + "UPHENO:0050845", + "HP:0001939", + "GO:0006996", + "UPHENO:0050116", + "GO:0008152", + "HP:0000079", + "GO:0048523" ], "has_phenotype_closure_label": [ - "Abnormality of the nervous system", - "Abnormality of the seventh cranial nerve", - "abnormal cranial nerve morphology", - "paralysed anatomical entity", - "Abnormal skeletal muscle morphology", - "Abnormal muscle physiology", - "Abnormality of facial musculature", - "abnormality of cranial nerve physiology", - "abnormal facial muscle", - "abnormal facial nerve", - "abnormal muscle organ morphology", - "Abnormality of the peripheral nervous system", - "abnormal head morphology", - "Cranial nerve paralysis", - "decreased anatomical entity strength", - "Abnormal nervous system physiology", - "Abnormal nervous system morphology", - "Abnormal peripheral nerve morphology by anatomical site", - "Facial palsy", - "abnormal ear", - "decreased qualitatively sensory perception of sound", - "decreased sensory perception of sound", - "Abnormality of head or neck", - "decreased biological_process", - "abnormal craniocervical region", - "abnormality of anatomical entity physiology", - "Hearing abnormality", - "Hearing impairment", - "delayed growth", - "abnormal growth", - "Abnormal peripheral nervous system morphology", - "decreased size of the multicellular organism", - "delayed biological_process", - "abnormality of muscle organ physiology", - "Growth delay", - "abnormality of anatomical entity height", - "abnormality of multicellular organism height", - "decreased height of the anatomical entity", + "Pelvic kidney", + "Ectopic kidney", + "sperm", + "haploid cell", + "abnormally localised kidney", + "abnormality of male reproductive system physiology", + "Abnormality of reproductive system physiology", + "absent germ cell", + "abnormal internal genitalia", + "internal genitalia", + "absent anatomical entity in the semen", + "decreased developmental process", + "decreased spermatogenesis", + "abnormal testis morphology", + "male germ cell", + "male gamete", + "reproductive system", + "abnormality of reproductive system physiology", + "abnormal gamete", + "abnormal location of anatomical entity", + "Functional abnormality of male internal genitalia", + "abnormal developmental process involved in reproduction", + "Abnormal external genitalia", + "Cryptorchidism", + "testis", + "external male genitalia", + "germ cell", + "gamete", + "sexual reproduction", + "spermatogenesis", + "reproduction", + "developmental process involved in reproduction", + "multicellular organismal reproductive process", + "male reproductive system", + "abnormal number of anatomical enitites of type sperm", + "abnormally localised anatomical entity in independent continuant", + "Abnormality of male external genitalia", + "Abnormal male reproductive system physiology", + "semen", + "reproductive structure", + "organism substance", + "absent gamete", + "male gamete generation", + "Abnormal reproductive system morphology", + "abnormal reproductive system morphology", + "gonad", + "external genitalia", + "reproductive process", + "decreased qualitatively developmental process", + "Abnormal testis morphology", + "Azoospermia", + "abnormal male reproductive system morphology", + "decreased sensory perception of sound", + "abnormal sensory perception", + "Hearing abnormality", + "abnormal anatomical entity topology in independent continuant", + "decreased qualitatively sensory perception of sound", + "system process", + "ear", + "abnormal developmental process", + "sensory perception", + "abnormality of anatomical entity physiology", + "decreased qualitatively sensory perception of mechanical stimulus", + "sensory perception of sound", + "multicellular organismal process", "abnormal size of multicellular organism", - "abnormal nitrogen compound metabolic process", + "abnormality of multicellular organism height", + "Short stature", + "decreased height of the multicellular organism", + "Chromosomal breakage induced by crosslinking agents", "Chromosome breakage", - "abnormal programmed DNA elimination by chromosome breakage", - "abnormal metabolic process", - "Abnormal cranial nerve morphology", - "abnormal peripheral nervous system morphology", - "abnormal biological_process", + "regulation of cellular biosynthetic process", + "negative regulation of macromolecule metabolic process", + "DNA metabolic process", + "vestibulo-auditory system", + "protein-DNA complex organization", + "abnormal cellular component organization", + "negative regulation of gene expression", + "decreased height of the anatomical entity", + "regulation of cellular process", + "negative regulation of biological process", + "macromolecule metabolic process", + "organic cyclic compound metabolic process", + "obsolete heterocycle metabolic process", + "obsolete cellular aromatic compound metabolic process", + "obsolete cellular nitrogen compound metabolic process", + "cellular component organization", + "regulation of biological process", + "Abnormal ear physiology", + "obsolete nitrogen compound metabolic process", + "cellular metabolic process", "abnormal primary metabolic process", - "abnormality of ear physiology", "Abnormality of metabolism/homeostasis", - "abnormal cellular metabolic process", + "nervous system process", + "abnormal nitrogen compound metabolic process", + "abnormal organelle organization", + "abnormal reproductive process", + "regulation of macromolecule metabolic process", + "regulation of biosynthetic process", + "regulation of cellular metabolic process", + "Abnormality of head or neck", + "Abnormal cerebral morphology", + "arm bone", + "abnormal external male genitalia", + "Hearing impairment", + "abnormal anatomical entity morphology in the brain", + "visual system", + "root", + "appendage", + "organism", + "Neoplasm of the skin", + "Abnormal skull morphology", + "Abnormal cellular immune system morphology", + "regional part of nervous system", + "Abnormality of brain morphology", + "autopod region", + "Aplasia/Hypoplasia of the cerebrum", + "sensory system", + "multi-tissue structure", + "tissue", + "changed biological_process rate in independent continuant", + "Abnormal spermatogenesis", + "abnormal forelimb zeugopod morphology", + "Aplasia/Hypoplasia involving the central nervous system", + "facial bone hypoplasia", + "abnormal external genitalia", + "Abnormal renal morphology", + "abnormal craniocervical region", + "aplasia or hypoplasia of skeleton", + "abnormal mouth", + "Abnormality of skin pigmentation", + "skeleton of limb", + "organic substance metabolic process", "Abnormality of the head", - "Anemia", - "Abnormal cellular physiology", - "Abnormal erythrocyte morphology", - "Duplication of phalanx of hand", + "abnormal pigmentation", + "process", + "abnormal number of anatomical enitites of type hematopoietic cell", + "decreased length of forelimb zeugopod bone", + "increased biological_process in skin of body", + "abnormally increased volume of nose", + "Hypermelanotic macule", + "abnormal bone marrow morphology", + "increased qualitatively biological_process", + "anatomical collection", + "All", + "aplasia or hypoplasia of skull", + "neural crest-derived structure", + "Cafe-au-lait spot", + "primary subdivision of skull", + "increased qualitatively biological_process in independent continuant", + "absent sperm", + "limb segment", + "biological_process", + "abnormal integument", + "increased pigmentation in independent continuant", + "Abnormal oral morphology", + "abnormal anatomical entity morphology", + "increased pigmentation", + "pigmentation", + "increased biological_process", + "abnormal myeloid cell morphology", + "abnormal forebrain morphology", + "skeleton of manus", + "abnormal manual digit 1 morphology", + "Short thumb", + "integumental system", + "absent anatomical entity", + "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "segment of manus", + "abnormal skeletal system morphology", + "gamete generation", + "protein-containing material entity", + "agenesis of anatomical entity", + "digit", + "Hyperpigmentation of the skin", + "Abnormal digit morphology", + "cellular process", + "Absent thumb", + "abnormal autopod region morphology", + "Abnormal myeloid cell morphology", + "abnormally localised testis", + "absent anatomical entity in the independent continuant", + "Aplasia/Hypoplasia of the thumb", + "bone cell", + "obsolete multicellular organism reproduction", + "cellular organisms", + "Localized skin lesion", + "Abnormality of chromosome stability", + "immaterial entity", + "Neoplasm", + "ectoderm-derived structure", + "abnormal anatomical entity morphology in the manus", + "abnormal manus morphology", + "negative regulation of cellular process", + "abnormal limb", + "bone marrow", + "abnormal immune system morphology", + "Aplasia/Hypoplasia of fingers", + "digitopodium region", + "primary metabolic process", + "Abnormality of the skin", + "forelimb endochondral element", + "skeletal element", + "zeugopod", + "cranial skeletal system", + "regulation of metabolic process", + "manual digit 1", + "autopodial extension", + "abnormal face", + "decreased size of the radius bone", + "Abnormal cellular phenotype", + "abnormal central nervous system morphology", + "abnormal reproductive system", + "abnormal kidney", + "craniocervical region", + "forelimb zeugopod skeleton", + "facial skeleton", + "anatomical conduit", + "abnormal limb morphology", + "Aplasia/Hypoplasia of the radius", + "endochondral bone", + "subdivision of skeleton", + "lateral structure", + "decreased length of anatomical entity", + "bone of pectoral complex", + "entity", + "subdivision of skeletal system", + "increased pigmentation in skin of body", + "Phenotypic abnormality", + "subdivision of head", + "appendage girdle complex", + "manual digit plus metapodial segment", + "abnormal craniocervical region morphology", + "continuant", + "abnormal size of anatomical entity", + "subdivision of organism along appendicular axis", + "paired limb/fin skeleton", + "abnormal spermatogenesis", + "organelle organization", + "postcranial axial skeletal system", + "abnormal digit morphology", + "skeleton of lower jaw", + "material anatomical entity", + "anatomical structure", + "abnormal anatomical entity morphology in the skeleton of pectoral complex", + "abnormal phenotype by ontology source", + "abnormal radius bone morphology", + "organ system subdivision", + "decreased length of palpebral fissure", + "erythrocyte", + "abnormal blood cell", + "quality", + "absent digit", + "phenotype", + "Abnormal cell morphology", + "abnormal skin of body", + "Abnormality of bone marrow cell morphology", + "abnormal cellular metabolic process", + "Aplasia/Hypoplasia of facial bones", + "musculoskeletal system", + "skeletal system", + "motile cell", + "skull", + "limb skeleton subdivision", + "Abnormal axial skeleton morphology", + "erythroid lineage cell", + "Abnormal skeletal morphology", + "decreased size of the anatomical entity in the pectoral complex", + "Abnormal forebrain morphology", + "forelimb", + "autopodial skeleton", + "Abnormal facial skeleton morphology", + "Abnormal forearm morphology", + "abnormal anatomical entity", + "absent manual digit", + "decreased size of the mandible", + "Aplasia/hypoplasia involving bones of the hand", + "negative regulation of macromolecule biosynthetic process", + "germ line cell", + "bone element hypoplasia in independent continuant", + "abnormal gamete generation", + "leukocyte", + "head", + "digit plus metapodial segment", + "external soft tissue zone", + "abnormality of ear physiology", + "multicellular anatomical structure", + "absent anatomical entity in the forelimb", + "Abnormality of digestive system morphology", "abnormal number of anatomical enitites of type myeloid cell", + "abnormal arm", + "forelimb zeugopod", + "organ", + "abnormal male reproductive organ morphology", + "occurrent", + "anatomical system", + "abnormal skin of body morphology", + "increased biological_process in independent continuant", + "negative regulation of cellular metabolic process", + "Eukaryota", + "Eumetazoa", + "decreased length of manual digit", + "Forearm undergrowth", + "abnormal biological_process in independent continuant", + "decreased size of the anatomical entity", + "endochondral element", + "Abnormality of limb bone morphology", + "Abnormality of limbs", + "membrane bone", + "paired limb/fin", + "Hypoplasia of the radius", + "abnormal anatomical entity length", + "abnormal postcranial axial skeleton morphology", + "Abnormal nervous system morphology", + "abnormal limb bone", + "sense organ", + "limb", + "increased size of the anatomical entity", + "bone element", + "abnormal head morphology", + "abnormal multicellular organismal reproductive process", + "manual digit", + "U-shaped anatomical entity", + "decreased size of the anatomical entity in the independent continuant", + "abnormal cellular process", + "secretory cell", + "abnormal limb bone morphology", + "abnormal number of anatomical enitites of type anatomical entity", + "Finger aplasia", + "abnormal number of anatomical enitites of type leukocyte", + "limb bone", + "Abnormal internal genitalia", + "abnormal manual digit morphology in the manus", "abnormal DNA metabolic process", - "abnormally decreased number of myeloid cell", + "Aplasia/hypoplasia involving forearm bones", + "abnormal nose tip morphology", + "forelimb skeleton", + "genitourinary system", + "Morphological central nervous system abnormality", + "Abnormality of the urinary system", + "Aplasia/hypoplasia of the extremities", + "decreased qualitatively reproductive process", + "Hypoplastic facial bones", + "forelimb bone", + "anatomical entity hypoplasia", + "Macule", + "negative regulation of biosynthetic process", + "long bone", + "material entity", + "decreased size of the multicellular organism", + "Abnormality of skull size", + "trunk region element", + "absent sperm in the semen", + "Abnormal long bone morphology", + "absent anatomical entity in the limb", + "Abnormal forearm bone morphology", + "abnormal pigmentation in independent continuant", + "Abnormality of the ocular adnexa", + "abnormally localised anatomical entity", + "Micrognathia", + "Aplasia/hypoplasia involving the skeleton", + "decreased qualitatively biological_process", + "anatomical entity", "abnormal long bone morphology", - "Duplication of bones involving the upper extremities", - "abnormal platelet", - "Abnormality of chromosome stability", - "abnormal manus", - "abnormal manual digit morphology in the manus", - "Abnormal cranial nerve physiology", - "changed biological_process rate", - "abnormal sensory perception", - "Abnormal myeloid cell morphology", - "decreased height of the multicellular organism", - "Abnormal finger phalanx morphology", + "aplasia or hypoplasia of radius bone", + "Abnormal finger morphology", + "Abnormal erythrocyte morphology", + "upper limb segment", + "appendicular skeleton", + "appendicular skeletal system", + "brain", + "abnormal anatomical entity morphology in the independent continuant", + "system", + "bone marrow cell", + "bone of appendage girdle complex", + "aplastic manual digit 1", + "dentary", + "segment of autopod", + "independent continuant", + "abnormal growth", + "abnormal leukocyte morphology", + "arm", + "abnormal nose morphology", + "skeleton", + "organism subdivision", + "forelimb zeugopod bone hypoplasia", + "Microcephaly", "Abnormality of the musculoskeletal system", - "abnormal skeletal system morphology", - "Duplication of hand bones", - "abnormal face", + "subdivision of trunk", + "Abnormal thumb morphology", "abnormally decreased number of hematopoietic cell", - "paralysed cranial nerve", - "abnormal head", - "abnormal bone marrow morphology", - "decreased size of the anatomical entity in the independent continuant", - "Abnormal platelet count", - "abnormal platelet morphology", + "bone of lower jaw", + "mandible hypoplasia", + "integument", + "skeleton of pectoral complex", "decreased length of anatomical entity in independent continuant", - "abnormal hematopoietic cell morphology", - "abnormal anatomical entity morphology in the independent continuant", - "Abnormal leukocyte count", - "abnormal musculature", - "abnormal number of anatomical enitites of type platelet", - "abnormally decreased number of platelet", - "Abnormal cell morphology", - "abnormal number of anatomical enitites of type cell", - "abnormal number of anatomical enitites of type hematopoietic cell", - "Acute leukemia", - "decreased qualitatively sensory perception of mechanical stimulus", - "entity", - "abnormal hematopoietic system", - "aplasia or hypoplasia of manual digit 1", - "Abnormality of bone marrow cell morphology", - "abnormal limb bone morphology", - "Growth abnormality", - "abnormal cellular process", - "abnormal number of anatomical entities of type anatomical entity in independent continuant", + "paired limb/fin segment", + "abnormal axial skeleton plus cranial skeleton morphology", + "Opisthokonta", + "abnormal forelimb zeugopod bone", + "Abnormal ocular adnexa morphology", + "Short forearm", + "delayed biological_process", + "subdivision of digestive tract", + "limb endochondral element", + "male organism", + "abnormal appendicular skeleton morphology", + "Irregular hyperpigmentation", + "digit 1 plus metapodial segment", + "abnormal skeletal system", + "Abnormal nasal morphology", + "absent anatomical entity in the multicellular organism", + "hematopoietic system", + "multi-limb segment region", + "abnormal upper urinary tract", + "Limb undergrowth", + "abnormal face morphology", + "radius endochondral element", + "limb long bone", + "zeugopodial skeleton", + "eye", + "compound organ", + "decreased biological_process", + "radius bone hypoplasia", + "aplasia or hypoplasia of anatomical entity", + "abnormal anatomical entity morphology in the pectoral complex", + "Abnormality of skin morphology", + "abnormal camera-type eye morphology", "abnormal nervous system", - "Neoplasm", - "abnormal erythrocyte morphology", - "abnormally decreased number of anatomical entity", - "abnormal peripheral nervous system", + "Abnormality of limb bone", + "central nervous system", + "regional part of brain", + "forelimb zeugopod bone", + "nervous system", + "Narrow palpebral fissure", + "renal system", + "axial skeleton plus cranial skeleton", + "abnormality of internal male genitalia physiology", + "Abnormality of the nervous system", + "Abnormal hand morphology", + "Metazoa", + "postcranial axial skeleton", + "aplasia or hypoplasia of telencephalon", + "abnormal nervous system morphology", + "abnormal cell morphology", + "telencephalon", + "forebrain", + "blood cell", + "head bone", + "Abnormality of the genitourinary system", + "abnormal facial skeleton morphology", + "main body axis", + "Abnormal appendicular skeleton morphology", + "decreased width of the palpebral fissure", + "abnormal kidney morphology", + "forelimb long bone", + "abnormal size of skull", + "cell", + "Abnormality of the mouth", + "Decreased head circumference", + "pectoral complex", + "dermatocranium", + "abnormal telencephalon morphology", + "body proper", + "mesoderm-derived structure", + "Squamous cell carcinoma", + "Abnormality of the upper limb", + "Neoplasm by anatomical site", + "axial skeletal system", + "Growth abnormality", + "abnormal orbital region", + "aplasia or hypoplasia of manual digit", + "face", + "Abnormal localization of kidney", + "cellular component organization or biogenesis", + "programmed DNA elimination by chromosome breakage", + "Aplasia/hypoplasia involving bones of the upper limbs", + "growth", + "kidney", + "abnormal biological_process", + "Growth delay", + "digestive system element", + "delayed growth", + "Non-obstructive azoospermia", + "abnormal ocular adnexa", + "multi organ part structure", + "hemolymphoid system", + "camera-type eye", "Abnormality of the hand", - "Short digit", - "Abnormal thumb morphology", + "radius bone", + "Anemia", + "ocular adnexa", + "manus", + "abnormal eyelid morphology", + "Abnormal size of the palpebral fissures", + "non-connected functional system", + "abnormal size of palpebral fissure", + "Abnormality of the palpebral fissures", + "protein-containing complex organization", + "reproductive organ", + "abnormal skull morphology", + "Short long bone", + "abnormal palpebral fissure", + "Abnormal mandible morphology", + "abnormally decreased number of cell", + "simple eye", + "Abnormality of the skeletal system", + "biogenic amine secreting cell", + "Abnormality of the orbital region", + "Blepharophimosis", + "bone of free limb or fin", + "abnormal bone marrow cell morphology", + "abdomen element", + "palpebral fissure", + "Abnormality of the ear", + "eyelid", + "organ part", + "abnormal bone of pectoral complex morphology", + "orifice", + "Abnormality of the face", + "decreased width of the anatomical entity", + "Abnormality of the upper urinary tract", + "orbital region", + "Vitiligo", + "acropodium region", + "Short palpebral fissure", + "Abnormal eyelid morphology", "phenotype by ontology source", - "Abnormal cellular phenotype", - "Abnormal ear physiology", - "abnormal anatomical entity morphology in the appendage girdle complex", - "abnormal phenotype by ontology source", - "decreased length of digit", - "abnormal cellular component organization", + "abnormal ocular adnexa morphology", + "sensory perception of mechanical stimulus", + "skin of body", + "Abnormal upper limb bone morphology", + "abnormally decreased number of anatomical entity", + "abnormal number of anatomical enitites of type cell", + "Abnormal immune system morphology", + "internal male genitalia", + "programmed DNA elimination", + "decreased length of long bone", + "obsolete cell", + "digestive system", + "abnormal hematopoietic system", + "digit 1", + "abnormal platelet morphology", + "Abnormal platelet count", + "regulation of macromolecule biosynthetic process", + "multicellular organism", + "Thrombocytopenia", + "Abnormality of the immune system", "specifically dependent continuant", - "abnormal erythroid lineage cell morphology", + "abnormal programmed DNA elimination by chromosome breakage", + "Abnormality of multiple cell lineages in the bone marrow", + "Abnormal erythroid lineage cell morphology", + "myeloid cell", + "absent sperm in the independent continuant", + "platelet", + "Abnormal leukocyte morphology", "Abnormal platelet morphology", - "abnormal anatomical entity morphology", - "Pancytopenia", - "decreased length of manual digit 1", - "Neoplasm by anatomical site", - "quality", - "abnormal craniocervical region morphology", - "continuant", - "decreased qualitatively biological_process", - "Abnormal upper limb bone morphology", - "All", - "Abnormality of blood and blood-forming tissues", - "abnormal hematopoietic system morphology", - "Abnormal digit morphology", + "pectoral appendage skeleton", "abnormal blood cell morphology", - "Phenotypic abnormality", - "Muscle weakness", - "abnormal bone of pectoral complex morphology", - "abnormal bone marrow cell morphology", - "decreased length of anatomical entity", - "Acute myeloid leukemia", - "abnormal cell", - "abnormal anatomical entity length", - "abnormally decreased number of cell", - "Short stature", - "abnormal number of anatomical enitites of type leukocyte", - "Leukemia", - "Aplasia/hypoplasia involving bones of the extremities", - "abnormal anatomical entity", + "abnormally decreased number of platelet", + "abnormal anatomical entity morphology in the appendage girdle complex", + "serotonin secreting cell", "abnormal immune system", - "Chromosomal breakage induced by crosslinking agents", - "Abnormal cellular immune system morphology", - "Aplasia/Hypoplasia of the thumb", - "abnormality of nervous system physiology", - "abnormal immune system morphology", - "phenotype", - "Abnormal hand morphology", - "Abnormality of the immune system", - "Abnormality of body height", - "Abnormal appendicular skeleton morphology", + "Aplasia/hypoplasia involving bones of the extremities", + "abnormal platelet", + "male reproductive organ", + "disconnected anatomical group", + "abnormal cell", + "cavitated compound organ", + "Abnormal leukocyte count", + "primary subdivision of cranial skeletal system", + "abnormal hematopoietic cell morphology", + "abnormal brain morphology", + "abnormal number of anatomical enitites of type platelet", + "abnormal hematopoietic system morphology", "abnormal limb long bone morphology", - "Hematological neoplasm", - "Abnormal leukocyte morphology", - "abnormal anatomical entity morphology in the pectoral complex", - "aplasia or hypoplasia of anatomical entity", - "abnormal chromatin organization", - "Abnormal skeletal morphology", - "Aplasia/hypoplasia of the extremities", - "abnormal leukocyte morphology", - "abnormal bone marrow cell", - "Weakness of facial musculature", - "abnormal cell morphology", - "abnormal sensory perception of sound", - "Abnormal long bone morphology", + "eukaryotic cell", + "hematopoietic cell", + "anucleate cell", + "changed biological_process rate", + "external nose", + "nucleate cell", + "oxygen accumulating cell", + "aplasia or hypoplasia of mandible", + "abnormal male reproductive system", + "abnormal mouth morphology", + "digit 1 or 5", + "U-shaped kidney", + "bone of jaw", + "Aplasia/Hypoplasia involving bones of the skull", + "abnormal manus", + "bone element hypoplasia in face", + "abnormal ear", + "Abnormal jaw morphology", + "Pancytopenia", + "decreased width of the anatomical entity in independent continuant", + "abnormal head", + "jaw region", + "abnormal digit", + "lower jaw region", + "subdivision of tube", + "anatomical entity hypoplasia in face", + "abnormal digestive system", + "digestive tract", + "Abnormality of the genital system", + "intramembranous bone", + "structure with developmental contribution from neural crest", + "bone of craniocervical region", + "abnormality of anatomical entity height", + "subdivision of organism along main body axis", + "dermal skeletal element", + "Abnormality of the integument", + "increased size of the anatomical entity in independent continuant", + "Abnormality of body height", + "tube", + "aplasia or hypoplasia of manual digit 1", + "dermal skeleton", + "immune system", + "facial bone", + "mandible", "Abnormality of thrombocytes", - "decreased size of the anatomical entity", - "Abnormality of the skeletal system", - "abnormal phalanx of manus morphology", - "abnormal skeletal system", + "Upper limb undergrowth", + "jaw skeleton", + "dermal bone", + "nucleobase-containing compound metabolic process", + "Aplasia/hypoplasia affecting bones of the axial skeleton", + "mouth", + "abnormal mandible morphology", + "abnormal head bone morphology", + "abnormal jaw skeleton morphology", + "Abnormality of the digestive system", "abnormal forelimb morphology", - "abnormal anatomical entity morphology in the manus", - "abnormal size of anatomical entity", - "decreased length of manual digit", - "Abnormality of facial soft tissue", - "Aplasia/hypoplasia involving bones of the upper limbs", + "abnormal digestive system morphology", + "anterior region of body", + "decreased length of manual digit 1", + "Short digit", "Short finger", - "Aplasia/hypoplasia involving the skeleton", - "abnormal number of anatomical enitites of type anatomical entity", - "Abnormality of multiple cell lineages in the bone marrow", - "abnormal limb bone", - "Abnormality of limb bone morphology", - "Abnormality of limbs", - "Abnormal finger morphology", - "Abnormality of the musculature", - "abnormal myeloid cell morphology", - "Aplasia/Hypoplasia of fingers", - "decreased muscle organ strength", - "Short thumb", - "abnormal phalanx morphology", - "Abnormality of limb bone", - "abnormal nervous system morphology", - "decreased size of the anatomical entity in the pectoral complex", - "Duplication of thumb phalanx", - "abnormal anatomical entity morphology in the skeleton of pectoral complex", - "Abnormality of the upper limb", - "Aplasia/hypoplasia involving bones of the hand", - "abnormal arm", - "Abnormal erythroid lineage cell morphology", - "Abnormal immune system morphology", - "aplasia or hypoplasia of manual digit", - "abnormal blood cell", - "abnormal appendicular skeleton morphology", - "abnormal autopod region morphology", - "abnormal limb", - "aplasia or hypoplasia of skeleton", + "Aplasia/Hypoplasia of the mandible", + "abnormally decreased number of myeloid cell", + "abnormal nose", + "anatomical point", + "aplastic anatomical entity", + "Bulbous nose", + "abnormally increased volume of anatomical entity", + "Abnormal external nose morphology", + "Abnormality of the nose", + "nose", + "nose tip", + "olfactory organ", + "Abnormal nasal tip morphology", + "entire sense organ system", + "abnormal external nose morphology", + "immaterial anatomical entity", + "abnormal erythrocyte morphology", + "Abnormal morphology of the radius", + "abnormal erythroid lineage cell morphology", + "trunk", + "abnormal bone marrow cell", + "abnormal shape of continuant", + "Horseshoe kidney", + "abnormal renal system morphology", + "developmental process", + "negative regulation of metabolic process", + "manual digit 1 or 5", + "shape kidney", + "Abnormality of the male genitalia", + "manual digitopodium region", + "Abnormality of blood and blood-forming tissues", + "decreased length of digit", + "upper urinary tract", + "abnormal renal system", + "anatomical entity hypoplasia in independent continuant", + "shape anatomical entity", + "3-D shape anatomical entity", + "changed developmental process rate", + "abnormal genitourinary system", + "excretory system", + "Abnormality of the kidney", + "manual digit 1 plus metapodial segment", + "abdomen", + "abdominal segment element", + "Abnormal cellular physiology", + "3-D shape anatomical entity in independent continuant", + "concave 3-D shape anatomical entity", "abnormal manual digit morphology in the independent continuant", - "abnormal manus morphology", - "abnormal nerve", - "abnormal organelle organization", - "abnormal digit", - "Abnormality of the face", - "Bone marrow hypocellularity", - "Abnormality of the ear", - "abnormal manual digit 1 morphology", - "Thrombocytopenia", - "abnormal digit morphology", - "abnormal anatomical entity morphology in the skeleton of manus", - "abnormal limb morphology", - "Abnormality of thumb phalanx" + "shape anatomical entity in independent continuant", + "metabolic process", + "abdominal segment of trunk", + "biological regulation", + "chromatin organization", + "negative regulation of cellular biosynthetic process", + "pectoral appendage", + "regulation of gene expression", + "abnormal chromatin organization", + "abnormal metabolic process", + "abnormal sensory perception of sound", + "nucleic acid metabolic process" ], - "has_phenotype_count": 11, + "has_phenotype_count": 20, "highlight": null, "score": null } diff --git a/frontend/src/api/phenotype-explorer.ts b/frontend/src/api/phenotype-explorer.ts index b17693b92..2c3c37a02 100644 --- a/frontend/src/api/phenotype-explorer.ts +++ b/frontend/src/api/phenotype-explorer.ts @@ -10,6 +10,13 @@ import { stringify } from "@/util/object"; import { apiUrl, request } from "./"; import { getAutocomplete } from "./search"; +/** similarity metrics available for comparison */ +export const metricOptions = [ + { id: "ancestor_information_content", label: "Ancestor Information Content" }, + { id: "jaccard_similarity", label: "Jaccard Similarity" }, + { id: "phenodigm_score", label: "Phenodigm Score" }, +]; + /** search individual phenotypes or gene/disease phenotypes */ export const getPhenotypes = async (search = ""): ReturnType => { /** @@ -141,29 +148,11 @@ export type Group = (typeof groups)[number]; type ObjectSet = { id?: string; label?: string; phenotypes: string[] }; -/** compare a set of phenotypes to several other sets of phenotypes */ -export const compareSetToSets = async ( +export function processMulticompareResponse( + response: SemsimSearchResult[], subjects: string[], objectSets: ObjectSet[], - metric?: string, -) => { - /** fill in missing object set fields */ - objectSets.forEach((set, index) => { - set.id ??= String(index); - set.label ??= `Set ${index + 1}`; - }); - - /** make request */ - const headers = new Headers(); - headers.append("Content-Type", "application/json"); - headers.append("Accept", "application/json"); - const body = { subjects, object_sets: objectSets, metric }; - const options = { method: "POST", headers, body: stringify(body) }; - - /** make query */ - const url = `${apiUrl}/semsim/multicompare`; - const response = await request(url, {}, options); - +) { /** make flat lists of rows/cols from subjects/objects */ let cols: Phenogrid["cols"] = response.map((match, index) => ({ id: match.subject.id || String(index), @@ -192,7 +181,8 @@ export const compareSetToSets = async ( for (const [index, col] of Object.entries(cols)) { for (const row of rows) { - const match = response[+index]?.similarity?.object_best_matches?.[row.id]; + const match = + response[+index]?.similarity?.subject_best_matches?.[row.id]; col.total += match?.score || 0; row.total += match?.score || 0; @@ -205,6 +195,7 @@ export const compareSetToSets = async ( ...pick(match?.similarity, [ "ancestor_id", "ancestor_label", + "ancestor_information_content", "jaccard_similarity", "phenodigm_score", ]), @@ -240,6 +231,31 @@ export const compareSetToSets = async ( const phenogrid = { cols, rows, cells, unmatched } satisfies Phenogrid; return { phenogrid }; +} + +/** compare a set of phenotypes to several other sets of phenotypes */ +export const compareSetToSets = async ( + subjects: string[], + objectSets: ObjectSet[], + metric?: string, +) => { + /** fill in missing object set fields */ + objectSets.forEach((set, index) => { + set.id ??= String(index); + set.label ??= `Set ${index + 1}`; + }); + + /** make request */ + const headers = new Headers(); + headers.append("Content-Type", "application/json"); + headers.append("Accept", "application/json"); + const body = { subjects, object_sets: objectSets, metric }; + const options = { method: "POST", headers, body: stringify(body) }; + + /** make query */ + const url = `${apiUrl}/semsim/multicompare`; + const response = await request(url, {}, options); + return processMulticompareResponse(response, subjects, objectSets); }; /** compare a set of phenotypes to a group of phenotypes */ diff --git a/frontend/src/pages/PageTestbed.vue b/frontend/src/pages/PageTestbed.vue index 02be52e00..f9d8bf2b8 100644 --- a/frontend/src/pages/PageTestbed.vue +++ b/frontend/src/pages/PageTestbed.vue @@ -18,7 +18,7 @@ src="/phenogrid-search?subjects=HP:0000939,HP:0000444,HP:0000546,HP:0000135&object-group=Human+Diseases" > - + @@ -30,6 +30,8 @@ frameBorder="0" src="/phenogrid-multi-compare?subjects=HP:0002616,HP:0001763,HP:0004944,HP:0010749,HP:0001533,HP:0002020,HP:0012450&object-sets=HP:0002616,HP:0001763,HP:0000767,HP:0000023,HP:0002108,HP:0000490,HP:0000545,HP:0100785,HP:0000268&object-sets=HP:0002616,HP:0001763,HP:0004944,HP:0010749,HP:0001533,HP:0002020,HP:0012450,HP:0003394,HP:0003771,HP:0012378,HP:0001278,HP:0002827,HP:0002829,HP:0002999,HP:0003010&object-sets=HP:0002616,HP:0001763,HP:0000767,HP:0000023,HP:0002108,HP:0000490,HP:0000545,HP:0100785,HP:0000268,HP:0001634,HP:0001653,HP:0001659,HP:0002360,HP:0003179,HP:0004970,HP:0005059,HP:0002705,HP:0012432,HP:0007800,HP:0001704" > + + @@ -226,15 +228,21 @@ useEventListener( const iframe = document.querySelector( `iframe[name='${name}']`, ); - if (!iframe) return; - iframe.style.maxWidth = width + "px"; - iframe.style.maxHeight = height + "px"; + if (!iframe) { + console.error(`Could not find iframe ${name}`); + return; + } else { + iframe.style.maxWidth = width + "px"; + iframe.style.maxHeight = height + "px"; + } }, ); /** send message to iframe with longer params */ -function sendMessage() { - const iframe = document.querySelector("iframe"); +function postPhenogridSearch() { + const iframe = document.querySelector( + "iframe[name=pheno-search]", + ); if (!iframe) return; iframe.contentWindow?.postMessage( { @@ -251,6 +259,63 @@ function sendMessage() { ); } +/** Same as above, but for multi-compare phenogrid */ +function postPhenogridMulti() { + const iframe = document.querySelector( + "iframe[name=pheno-multi]", + ); + if (!iframe) { + return; + } + iframe.contentWindow?.postMessage( + { + metric: "ancestor_information_content", + subjects: [ + "HP:0002616", + "HP:0001763", + "HP:0004944", + "HP:0010749", + "HP:0001533", + "HP:0002020", + "HP:0012450", + ], + "object-sets": [ + { + id: "MGI:2441732", + label: "Adgrg7", + phenotypes: [ + "MP:0011965", + "MP:0002834", + "MP:0003731", + "MP:0011962", + "MP:0011960", + "MP:0008489", + "MP:0003291", + "MP:0001262", + ], + }, + { + id: "MGI:87909", + label: "Acta2", + phenotypes: [ + "MP:0002834", + "MP:0003070", + "MP:0004022", + "MP:0004021", + "MP:0003026", + "MP:0006264", + "MP:0000230", + "MP:0000233", + "MP:0000272", + "MP:0009862", + ], + }, + ], + }, + "*", + ); +} + const input = ref(""); type ButtonProps = InstanceType["$props"]; diff --git a/frontend/src/pages/explore/PagePhenogridMulticompare.vue b/frontend/src/pages/explore/PagePhenogridMulticompare.vue index eb2c4cd2b..91ad91ec2 100644 --- a/frontend/src/pages/explore/PagePhenogridMulticompare.vue +++ b/frontend/src/pages/explore/PagePhenogridMulticompare.vue @@ -24,7 +24,7 @@ import { ref, watch } from "vue"; import { useRoute } from "vue-router"; import { isEmpty } from "lodash"; import { useEventListener } from "@vueuse/core"; -import { compareSetToSets } from "@/api/phenotype-explorer"; +import { compareSetToSets, metricOptions } from "@/api/phenotype-explorer"; import ThePhenogrid from "@/components/ThePhenogrid.vue"; import TheSnackbar from "@/components/TheSnackbar.vue"; import { useQuery } from "@/composables/use-query"; @@ -35,6 +35,7 @@ const route = useRoute(); /** input params */ const aPhenotypes = ref[0]>([]); const bPhenotypes = ref[1]>([]); +const similarityMetric = ref(metricOptions[0]); const stylesheetHref = ref(""); /** comparison analysis */ @@ -45,7 +46,11 @@ const { isError, } = useQuery( async function () { - return await compareSetToSets(aPhenotypes.value, bPhenotypes.value); + return await compareSetToSets( + aPhenotypes.value, + bPhenotypes.value, + similarityMetric.value.id, + ); }, /** default value */ @@ -53,7 +58,7 @@ const { ); /** re-rerun analysis when inputs change */ -watch([aPhenotypes, bPhenotypes], runAnalysis); +watch([aPhenotypes, bPhenotypes, similarityMetric], runAnalysis); /** get input url params */ watch( @@ -62,6 +67,7 @@ watch( let { subjects = "", "object-sets": objectSets = "", + metric = "", stylesheet = "", } = route.query; @@ -75,6 +81,10 @@ watch( phenotypes: object?.split(",") || [], })); } + if (metric && typeof metric === "string") + similarityMetric.value = + metricOptions.find((option) => option.id === metric) || + metricOptions[0]; }, { immediate: true, deep: true }, ); @@ -85,6 +95,10 @@ useEventListener("message", (event: MessageEvent) => { aPhenotypes.value = event.data.subjects; bPhenotypes.value = event.data["object-sets"]; } + if ("metric" in event.data) + similarityMetric.value = + metricOptions.find((option) => option.id === event.data.metric) || + metricOptions[0]; if ("stylesheet" in event.data) stylesheetHref.value = event.data.stylesheet; }); diff --git a/frontend/src/pages/explore/PagePhenogridSearch.vue b/frontend/src/pages/explore/PagePhenogridSearch.vue index b9744e560..86e48a59f 100644 --- a/frontend/src/pages/explore/PagePhenogridSearch.vue +++ b/frontend/src/pages/explore/PagePhenogridSearch.vue @@ -24,7 +24,11 @@ import { ref, watch } from "vue"; import { useRoute } from "vue-router"; import { isEmpty } from "lodash"; import { useEventListener } from "@vueuse/core"; -import { compareSetToGroup, type Group } from "@/api/phenotype-explorer"; +import { + compareSetToGroup, + metricOptions, + type Group, +} from "@/api/phenotype-explorer"; import ThePhenogrid from "@/components/ThePhenogrid.vue"; import TheSnackbar from "@/components/TheSnackbar.vue"; import { useQuery } from "@/composables/use-query"; @@ -35,6 +39,7 @@ const route = useRoute(); /** input params */ const aPhenotypes = ref[0]>([]); const bGroup = ref[1]>("Human Diseases"); +const similarityMetric = ref(metricOptions[0]); const stylesheetHref = ref(""); /** comparison analysis */ @@ -45,7 +50,11 @@ const { isError, } = useQuery( async function () { - return await compareSetToGroup(aPhenotypes.value, bGroup.value); + return await compareSetToGroup( + aPhenotypes.value, + bGroup.value, + similarityMetric.value.id, + ); }, /** default value */ @@ -53,7 +62,7 @@ const { ); /** re-rerun analysis when inputs change */ -watch([aPhenotypes, bGroup], runAnalysis); +watch([aPhenotypes, bGroup, similarityMetric], runAnalysis); /** get input url params */ watch( @@ -62,6 +71,7 @@ watch( const { subjects = "", "object-group": objectGroup = "", + metric = "", stylesheet = "", } = route.query; @@ -77,6 +87,10 @@ watch( aPhenotypes.value = subjects.split(","); bGroup.value = objectGroup as Group; } + if (metric && typeof metric === "string") + similarityMetric.value = + metricOptions.find((option) => option.id === metric) || + metricOptions[0]; }, { immediate: true, deep: true }, ); @@ -87,6 +101,10 @@ useEventListener("message", (event: MessageEvent) => { aPhenotypes.value = event.data.subjects; bGroup.value = event.data["object-group"]; } + if ("metric" in event.data) + similarityMetric.value = + metricOptions.find((option) => option.id === event.data.metric) || + metricOptions[0]; if ("stylesheet" in event.data) stylesheetHref.value = event.data.stylesheet; }); diff --git a/frontend/src/pages/explore/TabPhenotypeExplorer.vue b/frontend/src/pages/explore/TabPhenotypeExplorer.vue index f761cef3d..0ea47f109 100644 --- a/frontend/src/pages/explore/TabPhenotypeExplorer.vue +++ b/frontend/src/pages/explore/TabPhenotypeExplorer.vue @@ -263,6 +263,7 @@ import { compareSetToSet, getPhenotypes, groups, + metricOptions, type Group, } from "@/api/phenotype-explorer"; import AppAlert from "@/components/AppAlert.vue"; @@ -298,12 +299,6 @@ const bModeOptions = [ /** search group options */ const bGroupOptions = groups.map((group) => ({ id: group, label: group })); -const metricOptions = [ - { id: "ancestor_information_content", label: "Ancestor Information Content" }, - { id: "jaccard_similarity", label: "Jaccard Similarity" }, - { id: "phenodigm_score", label: "Phenodigm Score" }, -]; - /** example data */ type GeneratedFrom = { /** the option (gene/disease/phenotype) that the phenotypes came from */ diff --git a/frontend/src/pages/metadata.json b/frontend/src/pages/metadata.json index 3c752d9eb..e342874a3 100644 --- a/frontend/src/pages/metadata.json +++ b/frontend/src/pages/metadata.json @@ -3,7 +3,7 @@ { "label": "Genes", "icon": "category-gene", - "count": 558753 + "count": 566876 }, { "label": "Phenotypes", @@ -13,12 +13,12 @@ { "label": "Diseases", "icon": "category-disease", - "count": 27943 + "count": 28018 }, { "label": "Total Nodes", "icon": "node", - "count": 851729 + "count": 860305 } ], "association": [ @@ -26,24 +26,24 @@ "label": "Gene to Disease", "icon": "category-gene", "icon2": "category-disease", - "count": 15048 + "count": 15327 }, { "label": "Gene to Phenotype", "icon": "category-gene", "icon2": "category-phenotypic-quality", - "count": 930977 + "count": 935715 }, { "label": "Disease to Phenotype", "icon": "category-disease", "icon2": "category-phenotypic-quality", - "count": 241553 + "count": 245981 }, { "label": "Total Associations", "icon": "association", - "count": 10482579 + "count": 10610462 } ] } diff --git a/frontend/unit/PhenotypeExplorerTransforms.test.ts b/frontend/unit/PhenotypeExplorerTransforms.test.ts new file mode 100644 index 000000000..3accf07f9 --- /dev/null +++ b/frontend/unit/PhenotypeExplorerTransforms.test.ts @@ -0,0 +1,36 @@ +import { readFileSync } from "fs"; +import { join } from "path"; +import { expect, test } from "vitest"; +import { processMulticompareResponse } from "@/api/phenotype-explorer"; + +test("processMulticompareResponse works", async () => { + // Load the data from the JSON file + const data = JSON.parse( + readFileSync( + join(__dirname, "../fixtures/phenotype-explorer-multi-compare.json"), + "utf-8", + ), + ); + + const request = JSON.parse( + readFileSync( + join( + __dirname, + "../fixtures/phenotype-explorer-multi-compare-request.json", + ), + "utf-8", + ), + ); + + // Call the processMulticompareResponse function with the test data + const result = processMulticompareResponse( + data, + request.subjects, + request.object_sets, + ); + + // Add your assertions here + // For example: + expect(result.phenogrid.rows.length).eq(7); + expect(result.phenogrid.cols.length).eq(2); +}); diff --git a/scripts/generate_fixtures.py b/scripts/generate_fixtures.py index d4d3f083b..6ea305cf4 100644 --- a/scripts/generate_fixtures.py +++ b/scripts/generate_fixtures.py @@ -377,29 +377,8 @@ def main( for key, value in backend_fixtures.items(): write_backend_fixture(key, value) - -semsim_multicompare_request = SemsimMultiCompareRequest( - subjects=["HP:0002616","HP:0001763","HP:0004944","HP:0010749","HP:0001533","HP:0002020","HP:0012450"], - object_sets=[ - SemsimMultiCompareObject( - id="test1", - label="Test1", - phenotypes=["HP:0002616","HP:0001763","HP:0000767","HP:0000023","HP:0002108","HP:0000490","HP:0000545","HP:0100785","HP:0000268"], - ), - SemsimMultiCompareObject( - id="test2", - label="Test2", - phenotypes=["HP:0002616","HP:0001763","HP:0004944","HP:0010749","HP:0001533","HP:0002020","HP:0012450","HP:0003394","HP:0003771","HP:0012378","HP:0001278","HP:0002827","HP:0002829","HP:0002999","HP:0003010"], - ), - SemsimMultiCompareObject( - id="test3", - label="Test3", - phenotypes=["HP:0002616","HP:0001763","HP:0000767","HP:0000023","HP:0002108","HP:0000490","HP:0000545","HP:0100785","HP:0000268","HP:0001634","HP:0001653","HP:0001659","HP:0002360","HP:0003179","HP:0004970","HP:0005059","HP:0002705","HP:0012432","HP:0007800","HP:0001704"], - ), - ], - metric="jaccard_similarity", -) - +multi_compare_request_file = Path(root) / "frontend" / "fixtures" / "phenotype-explorer-multi-compare-request.json" +semsim_multicompare_request = SemsimMultiCompareRequest.parse_file(multi_compare_request_file) if __name__ == "__main__": parser = argparse.ArgumentParser(description="Generate fixtures for monarch-app")