diff --git a/src/ontology/hp.Makefile b/src/ontology/hp.Makefile
index 1fb388562..455e3f10c 100644
--- a/src/ontology/hp.Makefile
+++ b/src/ontology/hp.Makefile
@@ -201,6 +201,103 @@ migrate_subsumptions_to_edit: #$(SRC) tmp/hp_pattern_subclasses.owl
diff_migration:
$(ROBOT) diff --left $(SRC) --right main-hp-edit.owl -f markdown -o $@.md
+#######################################################
+##### EQ normalisation pipeline #######################
+#######################################################
+
+#### How to use this pipeline #####
+# 1. Update NORM_PATTERN_URL to contain a wide table with all phenotypes, and a single 'pattern' column with the names of the target pattern.
+# 2. Update `NORM_PATTERNS` to list all patterns you would like to process
+# 3. If necessary, run `cp_patterns_for_hpo` to ensure you have all the HPO specific patterns in the patterns directory. Modify the patterns in necessary, e.g. Uppercasing labels, adding synonym patterns.
+# 4. Run `sh run.sh make hpo_phenotype_pipeline -B`. This will
+# 1. update the ontology with the new labels, EQs and definitions
+# 2. create a diff (reports/hp_chemical_phenotype_diff.md) you can paste on any pull request for easier review
+# 3.
+
+#NORM_PATTERN_URL=https://docs.google.com/spreadsheets/d/e/2PACX-1vT597OxlO_uml2xJY6ztzBEOCf1CR6sdZSn9tmyulfHMLHIh7j8HHmfQ0f4aZnoY5bKtMUX3E5JeKOO/pub?gid=2015098640&single=true&output=tsv
+NORM_PATTERN_URL=https://docs.google.com/spreadsheets/d/e/2PACX-1vT597OxlO_uml2xJY6ztzBEOCf1CR6sdZSn9tmyulfHMLHIh7j8HHmfQ0f4aZnoY5bKtMUX3E5JeKOO/pub?gid=1913984323&single=true&output=tsv
+
+$(TMPDIR)/normalised_patterns.tsv:
+ wget "$(NORM_PATTERN_URL)" -O $@
+
+$(TMPDIR)/norm_patterns/README.md: $(TMPDIR)/normalised_patterns.tsv
+ rm -rf $(TMPDIR)/norm_patterns
+ mkdir -p $(TMPDIR)/norm_patterns
+ python $(SCRIPTSDIR)/split_pattern_table.py $< $(TMPDIR)/norm_patterns
+ echo "$(TODAY)" > $@
+
+NORM_PATTERNS=abnormalLevelOfChemicalEntityInLocation \
+ abnormallyDecreasedLevelOfChemicalEntityInLocation \
+ abnormallyIncreasedLevelOfChemicalEntityInLocation
+
+$(TMPDIR)/norm_patterns.ofn: $(SRC) $(TMPDIR)/norm_patterns/README.md
+ touch $(foreach n,$(NORM_PATTERNS), $(TMPDIR)/norm_patterns/$(n).tsv)
+ $(DOSDPT) generate --catalog=$(CATALOG) \
+ --infile=$(TMPDIR)/norm_patterns --template=$(PATTERNDIR)/dosdp-patterns-hpo/ --batch-patterns="$(NORM_PATTERNS)" \
+ --ontology=$< --obo-prefixes=true --outfile=$(TMPDIR)/norm_patterns
+ $(ROBOT) merge $(foreach n,$(NORM_PATTERNS), -i $(TMPDIR)/norm_patterns/$(n).ofn) \
+ query --update ../sparql/update-chemical-labels.ru -o $@
+ sed -i '/^Declaration/d' $@
+
+tmp/chemical_phenotypes.txt: $(TMPDIR)/norm_patterns.ofn
+ $(ROBOT) query -i $< --query $(SPARQLDIR)/hp_terms.sparql $@
+
+tmp/chemical_phenotypes_incl_properties.txt: tmp/chemical_phenotypes.txt
+ cp $< $@
+ echo "rdfs:label" >> $@
+ echo "IAO:00000115" >> $@
+
+NORM_PATTERNS_YAML_HPO=$(foreach n,$(NORM_PATTERNS), $(PATTERNDIR)/dosdp-patterns-hpo/$(n).yaml)
+
+# This is a convenience method to copy all uPheno patterns to the HPO-specific directory
+# So they can be processed by the curator. It should
+# only be run manually when needed.
+cp_patterns_for_hpo:
+ rsync -av --ignore-existing $(foreach n,$(NORM_PATTERNS), $(PATTERNDIR)/dosdp-patterns/$(n).yaml) $(PATTERNDIR)/dosdp-patterns-hpo/
+
+tmp/chemical_old_labels_as_synonyms.owl: $(SRC) tmp/chemical_phenotypes_incl_properties.txt
+ $(ROBOT) filter -i $(SRC) -T tmp/chemical_phenotypes.txt --axioms annotation --signature true --trim false --preserve-structure false \
+ filter --term rdfs:label --trim false --preserve-structure false \
+ query \
+ --update ../sparql/add-labels-as-synonyms.ru \
+ -o $@
+
+
+# This is the main pipeline
+.PHONY: hpo_phenotype_pipeline
+hpo_phenotype_pipeline: $(SRC) $(TMPDIR)/norm_patterns.ofn tmp/chemical_old_labels_as_synonyms.owl tmp/chemical_phenotypes_incl_properties.txt tmp/chemical_phenotypes.txt
+ # In cases where this is rerun often, it makes sense to simply reset hp-edit.owl to the state on the branch
+ git checkout master -- $(SRC)
+
+ # We create a version of hp.obo for the diff later, to monitor the changes
+ make hp.obo IMP=false PAT=false MIR=false && mv hp.obo tmp/hp-branch.obo
+
+ # We remove all EQs, labels and definitions from hp-edit.owl
+ $(ROBOT) remove -i $(SRC) -T tmp/chemical_phenotypes_incl_properties.txt --axioms annotation --signature true --trim false --preserve-structure false \
+ remove -T tmp/chemical_phenotypes.txt --axioms equivalent --signature true --trim false --preserve-structure false \
+ merge -i $(TMPDIR)/norm_patterns.ofn -i tmp/chemical_old_labels_as_synonyms.owl --collapse-import-closure false -o $(SRC).ofn
+
+ # Then use a reasoner to classify the the chemical phenotypes.
+ # The result of that classification are stored in a temporary file...
+ $(ROBOT) reason -i $(SRC).ofn relax reduce \
+ filter -T tmp/chemical_phenotypes.txt --select "self parents" --axioms subclass -o tmp/$(SRC)-subclass.ofn
+
+ # ...which is then merged back into the main file
+ $(ROBOT) remove -i $(SRC).ofn -T tmp/chemical_phenotypes.txt --axioms subclass --signature true --trim false --preserve-structure false \
+ merge -i tmp/$(SRC)-subclass.ofn --collapse-import-closure false -o $(SRC).ofn
+
+ # (I like to work on temporary files instead of the main for no reason.)
+ mv $(SRC).ofn $(SRC)
+
+ # Generate hp.obo again with the changes...
+ make hp.obo IMP=false PAT=false MIR=false && mv hp.obo tmp/hp-after.obo
+
+ # ... and generate the diff to look at it...
+ runoak -i simpleobo:tmp/hp-branch.obo diff -X simpleobo:tmp/hp-after.obo -o reports/hp_chemical_phenotype_diff.md --output-type md
+ @echo "$@ pipeline finished!"
+
+# Generate template file seeds
+
#######################################################
##### British synonyms pipeline #######################
#######################################################
diff --git a/src/ontology/reports/hp_chemical_phenotype_diff.md b/src/ontology/reports/hp_chemical_phenotype_diff.md
new file mode 100644
index 000000000..546e1ad45
--- /dev/null
+++ b/src/ontology/reports/hp_chemical_phenotype_diff.md
@@ -0,0 +1,1055 @@
+
+Synonyms added: 347
+
+| Term | New Synonym | Predicate |
+----|----|----|
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) | Elevated circulating alkaline phosphatase concentration | oio:hasExactSynonym |
+| Increased level of leucine in blood (HP:0010911) | increased level of leucine in blood | oio:hasExactSynonym |
+| Decreased level of hypoxanthine in urine (HP:0040426) | Decreased urinary hypoxanthine level | oio:hasExactSynonym |
+| Abnormal blood L-aspartic acid level (HP:0500158) | Abnormal circulating aspartic acid concentration | oio:hasExactSynonym |
+| Increased level of gamma-aminobutyric acid in blood (HP:0410053) | increased level of gamma-aminobutyric acid in blood | oio:hasExactSynonym |
+| Abnormal blood glucocorticoid level (HP:0012111) | Abnormality of circulating glucocorticoid level | oio:hasExactSynonym |
+| Increased level of hemoglobin in urine (HP:0003641) | increased level of hemoglobin in urine | oio:hasExactSynonym |
+| Increased level of adrenaline in urine (HP:0003639) | Elevated urinary epinephrine level | oio:hasExactSynonym |
+| Increased level of chloride in urine (HP:0002914) | increased level of chloride in urine | oio:hasExactSynonym |
+| Increased level of calcium in urine (HP:0002150) | increased level of calcium atom in urine | oio:hasExactSynonym |
+| Abnormal blood carbon dioxide level (HP:0500258) | Abnormal carbon dioxide level in cord blood | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid tyrosine level (HP:0500219) | Abnormal CSF tyrosine concentration | oio:hasExactSynonym |
+| Abnormal blood creatinine level (HP:0012100) | Abnormal circulating creatinine concentration | oio:hasExactSynonym |
+| Increased level of ribose in cerebrospinal fluid (HP:0410073) | Increased CSF ribose concentration | oio:hasExactSynonym |
+| Decreased level of valine in blood (HP:0500132) | Hypovalinemia | oio:hasExactSynonym |
+| Increased level of dopamine in urine (HP:0011979) | increased level of dopamine in urine | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid serine level (HP:0500226) | Abnormal CSF serine concentration | oio:hasExactSynonym |
+| Increased level of protein in blood (HP:0002152) | Hyperproteinemia | oio:hasExactSynonym |
+| Decreased level of lysine in cerebrospinal fluid (HP:0500207) | Decreased CSF lysine concentration | oio:hasExactSynonym |
+| Increased level of arginine in blood (HP:0500153) | increased level of arginine in blood | oio:hasExactSynonym |
+| Increased level of carnosine in urine (HP:0003167) | increased level of carnosine in urine | oio:hasExactSynonym |
+| Increased level of hexacosanoic acid in blood (HP:0034298) | Elevated circulating hexacosanoic acid concentration | oio:hasExactSynonym |
+| Increased level of chondroitin sulfate in urine (HP:0012070) | Chondroitin sulfate excretion in urine | oio:hasExactSynonym |
+| Decreased level of alanine in blood (HP:0500154) | Hypoalaninemia | oio:hasExactSynonym |
+| Increased level of (R)-2-hydroxyglutaric acid in urine (HP:0012321) | increased level of (R)-2-hydroxyglutaric acid in urine | oio:hasExactSynonym |
+| Increased level of UDP-glucose 4-epimerase in blood (HP:0410194) | increased level of UDP-glucose 4-epimerase in blood | oio:hasExactSynonym |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) | Elevated tissue non-specific alkaline phosphatase | oio:hasExactSynonym |
+| Increased level of noradrenaline in urine (HP:0003345) | increased level of noradrenaline in urine | oio:hasExactSynonym |
+| Increased level of protein in cerebrospinal fluid (HP:0002922) | increased level of protein in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of D-threitol in blood (HP:0410057) | increased level of D-threitol in blood | oio:hasExactSynonym |
+| Increased level of UDP-glucose 4-epimerase in blood (HP:0410194) | Increased circulating UDP glucose-4-epimerase concentration | oio:hasExactSynonym |
+| Increased level of iron in blood (HP:0003452) | Increased circulating iron concentration | oio:hasExactSynonym |
+| Increased level of lysine in urine (HP:0003297) | Hyperlysinuria | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid alanine level (HP:0500232) | Abnormal CSF alanine concentration | oio:hasExactSynonym |
+| Increased level of iduronate 2-sulfatase in blood (HP:0003538) | Increased iduronate sulfatase level | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid glutamine level (HP:0500196) | Abnormal CSF glutamine concentration | oio:hasExactSynonym |
+| Increased level of ornithine in cerebrospinal fluid (HP:0500244) | Increased CSF ornithine concentration | oio:hasExactSynonym |
+| Abnormal blood iron cation level (HP:0011031) | Abnormality of iron homeostasis | oio:hasExactSynonym |
+| Increased level of uracil in urine (HP:0012127) | increased level of uracil in urine | oio:hasExactSynonym |
+| Increased level of glycopeptide in urine (HP:0012067) | increased level of glycopeptide in urine | oio:hasExactSynonym |
+| Increased level of uracil in urine (HP:0012127) | Uraciluria | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid glycine level (HP:0500229) | Abnormal CSF glycine concentration | oio:hasExactSynonym |
+| Decreased level of carbon dioxide in blood (HP:0012417) | Hypocapnia | oio:hasExactSynonym |
+| Increased level of iron in blood (HP:0003452) | increased level of iron atom in blood | oio:hasExactSynonym |
+| Increased level of high-density lipoprotein cholesterol in blood (HP:0012184) | Increased HDL cholesterol concentration | oio:hasExactSynonym |
+| Increased level of xylitol in cerebrospinal fluid (HP:0410075) | Increased CSF xylitol concentration | oio:hasExactSynonym |
+| Decreased level of lysine in blood (HP:0500142) | Hypolysinemia | oio:hasExactSynonym |
+| Increased level of galactitol in blood (HP:0410061) | increased level of galactitol in blood | oio:hasExactSynonym |
+| Decreased level of glutamic acid in cerebrospinal fluid (HP:0500201) | Decreased CSF glutamate concentration | oio:hasExactSynonym |
+| Increased level of 3-methylglutaric acid in urine (HP:0003344) | 3-Methylglutaric aciduria | oio:hasExactSynonym |
+| Increased level of methionine in cerebrospinal fluid (HP:0500210) | increased level of methionine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of oxalate in urine (HP:0003159) | increased level of oxalate in urine | oio:hasExactSynonym |
+| Decreased level of arginine in cerebrospinal fluid (HP:0500204) | Decreased CSF arginine concentration | oio:hasExactSynonym |
+| Increased level of threonine in urine (HP:0003296) | increased level of threonine in urine | oio:hasExactSynonym |
+| Increased level of 3-methylglutaric acid in urine (HP:0003344) | increased level of 3-methylglutaric acid in urine | oio:hasExactSynonym |
+| Increased level of UDP-glucose 4-epimerase in erythrocyte (HP:0410197) | increased level of UDP-glucose 4-epimerase in erythrocyte | oio:hasExactSynonym |
+| Abnormal blood UDP-glucose 4-epimerase level (HP:0410193) | Abnormal circulating UDP glucose-4-epimerase concentration | oio:hasExactSynonym |
+| Increased level of protein in cerebrospinal fluid (HP:0002922) | Increased CSF protein concentration | oio:hasExactSynonym |
+| Decreased level of trans-4-hydroxy-L-proline in blood (HP:0500140) | Decreased circulating hydroxyproline concentration | oio:hasExactSynonym |
+| Increased level of alpha-aminobutyrate in cerebrospinal fluid (HP:0500248) | Increased CSF alpha-aminobutyrate concentration | oio:hasExactSynonym |
+| Increased level of galactonate in blood (HP:0410063) | Increased level of galactonate in red blood cells | oio:hasExactSynonym |
+| Decreased level of dopamine in cerebrospinal fluid (HP:0012656) | Reduced CSF dopamine concentration | oio:hasExactSynonym |
+| Increased level of heparan sulfate in urine (HP:0002159) | Heparan sulfate excretion in urine | oio:hasExactSynonym |
+| Increased level of glutaric acid in urine (HP:0003150) | Glutaric aciduria | oio:hasExactSynonym |
+| Increased level of L-aspartic acid in blood (HP:0500159) | increased level of L-aspartic acid in blood | oio:hasExactSynonym |
+| Increased level of citrulline in cerebrospinal fluid (HP:0500246) | increased level of citrulline in cerebrospinal fluid | oio:hasExactSynonym |
+| Decreased level of glutamine in cerebrospinal fluid (HP:0500198) | Decreased CSF glutamine concentration | oio:hasExactSynonym |
+| Increased level of tryptophan in urine (HP:0003361) | Tryptophanuria | oio:hasExactSynonym |
+| Increased level of porphyrins in urine (HP:0010473) | Porphyrinuria | oio:hasExactSynonym |
+| Increased level of phosphoethanolamine in urine (HP:0003239) | increased level of phosphoethanolamine in urine | oio:hasExactSynonym |
+| Increased level of hypoxanthine in urine (HP:0011814) | Increased urinary hypoxanthine level | oio:hasExactSynonym |
+| Decreased level of potassium in urine (HP:0012364) | Decreased urinary potassium | oio:hasExactSynonym |
+| Decreased level of triglyceride in blood (HP:0012153) | Hypotriglyceridemia | oio:hasExactSynonym |
+| Decreased level of tyrosine in cerebrospinal fluid (HP:0500220) | Increased CSF tyrosine concentration | oio:hasExactSynonym |
+| Increased level of ribitol in cerebrospinal fluid (HP:0410071) | Increased CSF ribitol concentration | oio:hasExactSynonym |
+| Decreased level of leucine in cerebrospinal fluid (HP:0500190) | Decreased CSF leucine concentration | oio:hasExactSynonym |
+| Decreased level of tryptophan in blood (HP:0500135) | Hypotryptophanemia | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid threonine level (HP:0500211) | Abnormal CSF threonine concentration | oio:hasExactSynonym |
+| Increased level of 4-hydroxy-L-proline in urine (HP:0003080) | increased level of 4-hydroxy-L-proline in urine | oio:hasExactSynonym |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) | increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood | oio:hasExactSynonym |
+| Decreased level of phenylalanine in cerebrospinal fluid (HP:0500224) | Decreased CSF phenylalanine concentration | oio:hasExactSynonym |
+| Increased level of D-threitol in blood (HP:0410057) | Increased level of D-threitol in plasma | oio:hasExactSynonym |
+| Increased level of lysine in cerebrospinal fluid (HP:0500208) | increased level of lysine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of arginine in urine (HP:0003268) | increased level of arginine in urine | oio:hasExactSynonym |
+| Decreased level of erythritol in cerebrospinal fluid (HP:0410056) | Decreased CSF erythritol concentration | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid ornithine level (HP:0500243) | Abnormal CSF ornithine concentration | oio:hasExactSynonym |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) | increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood | oio:hasExactSynonym |
+| Decreased level of dioxygen in blood (HP:0012418) | Hypoxemia | oio:hasExactSynonym |
+| Increased level of uric acid in blood (HP:0002149) | Hyperuricemia | oio:hasExactSynonym |
+| Decreased level of carbon dioxide in umbilical cord blood (HP:0410215) | Hypocapnia in cord blood | oio:hasExactSynonym |
+| Increased level of lysine in cerebrospinal fluid (HP:0500208) | Increased CSF lysine concentration | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid methionine level (HP:0500209) | Abnormal CSF methionine concentration | oio:hasExactSynonym |
+| Increased level of uric acid in blood (HP:0002149) | increased level of uric acid in blood | oio:hasExactSynonym |
+| Decreased level of ammonia in blood (HP:0100493) | Hypoammonemia | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid isoleucine level (HP:0500192) | Abnormal CSF isoleucine concentration | oio:hasExactSynonym |
+| Increased level of testosterone in blood (HP:0030088) | Increased serum testosterone level | oio:hasExactSynonym |
+| Decreased level of UDP-glucose 4-epimerase in blood (HP:0410195) | Decreased circulating UDP glucose-4-epimerase concentration | oio:hasExactSynonym |
+| Increased level of phosphoethanolamine in urine (HP:0003239) | Phosphoethanolaminuria | oio:hasExactSynonym |
+| Increased level of intestinal alkaline phosphatase in blood (HP:0010681) | Elevated intestinal alkaline phosphatase | oio:hasExactSynonym |
+| Increased level of heparan sulfate in blood (HP:0410342) | increased level of heparan sulfate in blood | oio:hasExactSynonym |
+| Decreased level of cobamamide in blood (HP:0003145) | Decreased circulating adenosylcobalamin concentration | oio:hasExactSynonym |
+| Increased level of noradrenaline in urine (HP:0003345) | Elevated urinary norepinephrine level | oio:hasExactSynonym |
+| Decreased level of vitamin E in blood (HP:0100513) | Decreased circulating vitamin E concentration | oio:hasExactSynonym |
+| Increased level of tryptophan in cerebrospinal fluid (HP:0500222) | Increased CSF tryptophan concentration | oio:hasExactSynonym |
+| Increased level of leucine in blood (HP:0010911) | Hyperleucinemia | oio:hasExactSynonym |
+| Abnormal urine sodium level (HP:0012603) | Abnormal urine sodium concentration | oio:hasExactSynonym |
+| Decreased level of ornithine in blood (HP:0500163) | Hypoornithinemia | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid citrulline level (HP:0500245) | Abnormal CSF citrulline concentration | oio:hasExactSynonym |
+| Increased level of lipoprotein cholesterol in blood (HP:0010980) | increased level of lipoprotein cholesterol in blood | oio:hasExactSynonym |
+| Increased level of ornithine in cerebrospinal fluid (HP:0500244) | increased level of ornithine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of tryptophan in cerebrospinal fluid (HP:0500222) | increased level of tryptophan in cerebrospinal fluid | oio:hasExactSynonym |
+| Decreased level of magnesium in blood (HP:0002917) | Hypomagnesemia | oio:hasExactSynonym |
+| Increased level of glycerol in urine (HP:0040301) | Increased urinary glycerol | oio:hasExactSynonym |
+| Increased level of 1-methylhistidine in urine (HP:0410315) | Increased urinary 1-methylhistidine | oio:hasExactSynonym |
+| Decreased level of 3-methylhistidine in urine (HP:0410318) | Decreased urinary 3-methylhistidine | oio:hasExactSynonym |
+| Increased level of lipoprotein cholesterol in blood (HP:0010980) | Hyperlipoproteinemia | oio:hasExactSynonym |
+| Increased level of corticotropin in blood (HP:0003154) | increased level of corticotropin in blood | oio:hasExactSynonym |
+| Increased level of D-threitol in cerebrospinal fluid (HP:0410058) | increased level of D-threitol in cerebrospinal fluid | oio:hasExactSynonym |
+| Decreased level of high-density lipoprotein cholesterol in blood (HP:0003233) | Decreased HDL cholesterol concentration | oio:hasExactSynonym |
+| Increased level of 3-methylhistidine in urine (HP:0410317) | increased level of 3-methylhistidine in urine | oio:hasExactSynonym |
+| Increased level of carboxylic acid in urine (HP:0040156) | Elevated urinary carboxylic acid | oio:hasExactSynonym |
+| Increased level of xylitol in cerebrospinal fluid (HP:0410075) | increased level of xylitol in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of tryptophan in urine (HP:0003361) | increased level of tryptophan in urine | oio:hasExactSynonym |
+| Abnormal urine 3-methylhistidine level (HP:0410316) | Abnormal urinary 3-methylhistidine level | oio:hasExactSynonym |
+| Decreased level of proline in blood (HP:0500139) | Hypoprolinemia | oio:hasExactSynonym |
+| Increased level of tyrosine in cerebrospinal fluid (HP:0500221) | increased level of tyrosine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of triglyceride in blood (HP:0002155) | increased level of triglyceride in blood | oio:hasExactSynonym |
+| Increased level of histidine in cerebrospinal fluid (HP:0500236) | increased level of histidine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of hexacosanoic acid in blood (HP:0034298) | increased level of hexacosanoic acid in blood | oio:hasExactSynonym |
+| Increased level of ribitol in cerebrospinal fluid (HP:0410071) | increased level of ribitol in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of leucine in cerebrospinal fluid (HP:0500191) | increased level of leucine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of galactitol in blood (HP:0410061) | Increased level of galactitol in plasma | oio:hasExactSynonym |
+| Decreased level of bile acid in blood (HP:0030985) | Decreased serum bile acid concentration | oio:hasExactSynonym |
+| Abnormal blood alanine level (HP:0010916) | Abnormal circulating alanine concentration | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid homocarnosine level (HP:0500241) | Abnormal CSF homocarnosine concentration | oio:hasExactSynonym |
+| Increased level of chloride in urine (HP:0002914) | Hyperchloriduria | oio:hasExactSynonym |
+| Increased level of arginine in cerebrospinal fluid (HP:0500203) | increased level of arginine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of methionine in blood (HP:0003235) | increased level of methionine in blood | oio:hasExactSynonym |
+| Increased level of adrenaline in urine (HP:0003639) | increased level of adrenaline in urine | oio:hasExactSynonym |
+| Increased level of carnosine in blood (HP:0500161) | Increased circulating carnosine concentration | oio:hasExactSynonym |
+| Increased level of tryptophan in blood (HP:0500134) | increased level of tryptophan in blood | oio:hasExactSynonym |
+| Increased level of tyrosine in cerebrospinal fluid (HP:0500221) | Decreased CSF tyrosine concentration | oio:hasExactSynonym |
+| Increased level of cortisol in urine (HP:0012030) | Increased urinary cortisol level | oio:hasExactSynonym |
+| Increased level of galactitol in blood (HP:0410064) | Increased level of galactitol in red blood cells | oio:hasExactSynonym |
+| Increased level of oxalate in urine (HP:0003159) | Hyperoxaluria | oio:hasExactSynonym |
+| Increased level of gastrin in blood (HP:0500167) | Hypergastrinemia | oio:hasExactSynonym |
+| Increased level of lysine in urine (HP:0003297) | increased level of lysine in urine | oio:hasExactSynonym |
+| Increased level of UDP-glucose 4-epimerase in erythrocyte (HP:0410197) | Increased erythrocyte UDP glucose-4-epimerase concentration | oio:hasExactSynonym |
+| Increased level of serine in cerebrospinal fluid (HP:0500227) | Increased CSF serine concentration | oio:hasExactSynonym |
+| Decreased level of histidine in blood (HP:0500145) | Hypohistidinemia | oio:hasExactSynonym |
+| Increased level of methylmalonic acid in urine (HP:0012120) | increased level of methylmalonic acid in urine | oio:hasExactSynonym |
+| Decreased level of alpha-fetoprotein in blood (HP:0045057) | Decreased circulating alpha-fetoprotein concentration | oio:hasExactSynonym |
+| Increased level of galactitol in blood (HP:0410064) | increased level of galactitol in blood | oio:hasExactSynonym |
+| Decreased level of chloride in blood (HP:0003113) | Hypochloremia | oio:hasExactSynonym |
+| Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) | increased level of carboxylic acid in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of serine in cerebrospinal fluid (HP:0500227) | increased level of serine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of biopterins in cerebrospinal fluid (HP:0040208) | Elevated CSF biopterin level | oio:hasExactSynonym |
+| Increased level of threonine in urine (HP:0003296) | Hyperthreoninuria | oio:hasExactSynonym |
+| Increased level of gamma-aminobutyric acid in urine (HP:0500253) | Increased level of gamma-aminobutyric acid in urine | oio:hasExactSynonym |
+| Increased level of proline in urine (HP:0003137) | Prolinuria | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid amino acid level (HP:0500184) | Abnormal CSF amino acid concentration | oio:hasExactSynonym |
+| Increased level of ketone in urine (HP:0002919) | Ketonuria | oio:hasExactSynonym |
+| Increased level of lysine in blood (HP:0002161) | Hyperlysinemia | oio:hasExactSynonym |
+| Increased level of carboxylic acid in urine (HP:0040156) | increased level of carboxylic acid in urine | oio:hasExactSynonym |
+| Increased level of threonine in cerebrospinal fluid (HP:0500212) | Increased CSF threonine concentration | oio:hasExactSynonym |
+| Decreased level of glutamine in blood (HP:0500147) | Hypoglutaminemia | oio:hasExactSynonym |
+| Increased level of neopterins in cerebrospinal fluid (HP:0040204) | increased level of neopterins in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of 4-hydroxy-L-proline in urine (HP:0003080) | Hydroxyprolinuria | oio:hasExactSynonym |
+| Increased level of isoleucine in cerebrospinal fluid (HP:0500193) | increased level of isoleucine in cerebrospinal fluid | oio:hasExactSynonym |
+| Decreased level of cystine in blood (HP:0500152) | Hypocystinemia | oio:hasExactSynonym |
+| Increased level of urate salt in cerebrospinal fluid (HP:0410199) | increased level of urate salt in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of nitrogen in blood (HP:0002157) | Azotemia | oio:hasExactSynonym |
+| Increased level of arginine in cerebrospinal fluid (HP:0500203) | Increased CSF arginine concentration | oio:hasExactSynonym |
+| Increased level of glutamine in cerebrospinal fluid (HP:0500197) | increased level of glutamine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of 3-aminoisobutyric acid in urine (HP:0045034) | Elevated urinary aminoisobutyric acid | oio:hasExactSynonym |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500233) | Increased CSF alanine concentration | oio:hasExactSynonym |
+| Increased level of chondroitin sulfate in urine (HP:0012070) | increased level of chondroitin sulfate in urine | oio:hasExactSynonym |
+| Increased level of glycerol in urine (HP:0040301) | increased level of glycerol in urine | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid serine family amino acid level (HP:0500225) | Abnormal CSF serine family amino acid concentration | oio:hasExactSynonym |
+| Increased level of potassium in blood (HP:0002153) | Hyperkalemia | oio:hasExactSynonym |
+| Decreased level of methylcobalamin in blood (HP:0003223) | Decreased circulating methylcobalamin concentration | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid glutamine family amino acid level (HP:0500195) | Abnormal CSF glutamine family amino acid concentration | oio:hasExactSynonym |
+| Increased level of tyrosine in blood (HP:0003231) | increased level of tyrosine in blood | oio:hasExactSynonym |
+| Decreased level of isoleucine in cerebrospinal fluid (HP:0500194) | Decreased CSF isoleucine concentration | oio:hasExactSynonym |
+| Decreased level of glucose-6-phosphate isomerase in blood (HP:0003568) | Decreased glucosephosphate isomerase level | oio:hasExactSynonym |
+| Increased level of lysine in blood (HP:0002161) | increased level of lysine in blood | oio:hasExactSynonym |
+| Decreased level of purines in urine (HP:0004369) | Decreased circulating purine concentration | oio:hasExactSynonym |
+| Increased level of biopterins in cerebrospinal fluid (HP:0040208) | increased level of biopterins in cerebrospinal fluid | oio:hasExactSynonym |
+| Decreased level of UDP-glucose 4-epimerase in erythrocyte (HP:0410198) | Decreased erythrocyte UDP glucose-4-epimerase concentration | oio:hasExactSynonym |
+| Abnormal blood carnitine level (HP:0010967) | Abnormal circulating carnitine concentration | oio:hasExactSynonym |
+| Increased level of ketone in urine (HP:0002919) | increased level of ketone in urine | oio:hasExactSynonym |
+| Increased level of 3-aminoisobutyric acid in urine (HP:0045034) | increased level of 3-aminoisobutyric acid in urine | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid pyruvate family amino acid level (HP:0500231) | Abnormal CSF pyruvate family amino acid concentration | oio:hasExactSynonym |
+| Increased level of hydrogencarbonate in urine (HP:0003646) | Bicarbonaturia | oio:hasExactSynonym |
+| Decreased level of threonine in blood (HP:0500136) | Hypothreoninemia | oio:hasExactSynonym |
+| Abnormal blood corticosterone level (HP:0012112) | Abnormal circulating corticosterone level | oio:hasExactSynonym |
+| Increased level of alkaline phosphatase, placental type in blood (HP:0010682) | increased level of alkaline phosphatase, placental type in blood | oio:hasExactSynonym |
+| Increased level of zinc in blood (HP:0011424) | increased level of zinc atom in blood | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid carboxylic acid level (HP:0500183) | Abnormal CSF carboxylic acid concentration | oio:hasExactSynonym |
+| Decreased level of lipoprotein cholesterol in blood (HP:0010981) | Hypolipoproteinemia | oio:hasExactSynonym |
+| Abnormal urine sebacic acid level (HP:0500251) | Abnormal urine sebacic acid concentration | oio:hasExactSynonym |
+| Decreased level of carnitine in blood (HP:0003234) | Decreased circulating carnitine concentration | oio:hasExactSynonym |
+| Increased level of protoporphyrins in blood (HP:0012187) | increased level of protoporphyrins in blood | oio:hasExactSynonym |
+| Increased level of methionine in cerebrospinal fluid (HP:0500210) | Increased CSF methionine concentration | oio:hasExactSynonym |
+| Increased level of very-low-density lipoprotein cholesterol in blood (HP:0003362) | Increased VLDL cholesterol concentration | oio:hasExactSynonym |
+| Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) | increased level of trans-4-hydroxy-L-proline in blood | oio:hasExactSynonym |
+| Decreased level of lactate in cerebrospinal fluid (HP:0030086) | Reduced CSF lactate | oio:hasExactSynonym |
+| Increased level of homocarnosine in cerebrospinal fluid (HP:0500242) | Increased CSF homocarnosine concentration | oio:hasExactSynonym |
+| Increased level of cystathionine in urine (HP:0003153) | increased level of cystathionine in urine | oio:hasExactSynonym |
+| Increased level of D-threitol in cerebrospinal fluid (HP:0410058) | Increased CSF D-threitol concentration | oio:hasExactSynonym |
+| Increased level of albumin in blood (HP:0012117) | increased level of albumin in blood | oio:hasExactSynonym |
+| Abnormal blood insulin gene translation product level (HP:0040214) | Abnormal circulating insulin concentration | oio:hasExactSynonym |
+| Decreased level of serine in cerebrospinal fluid (HP:0500228) | Decreased CSF serine concentration | oio:hasExactSynonym |
+| Increased level of ribose in cerebrospinal fluid (HP:0410073) | increased level of ribose in cerebrospinal fluid | oio:hasExactSynonym |
+| Abnormal blood biopterins level (HP:0040210) | Abnormal circulating biopterin concentration | oio:hasExactSynonym |
+| Increased level of dopamine in cerebrospinal fluid (HP:0012655) | Elevated CSF dopamine concentration | oio:hasExactSynonym |
+| Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) | Hydroxyprolinemia | oio:hasExactSynonym |
+| Decreased level of tyrosine in blood (HP:0500133) | Hypotyrosinemia | oio:hasExactSynonym |
+| Increased level of glycine in cerebrospinal fluid (HP:0500230) | increased level of glycine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of 3-methylhistidine in urine (HP:0410317) | Increased urinary 3-methylhistidine | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid valine level (HP:0500186) | Abnormal CSF valine concentration | oio:hasExactSynonym |
+| Increased level of copper in urine (HP:0010839) | increased level of copper atom in urine | oio:hasExactSynonym |
+| Increased level of sodium in blood (HP:0003228) | Hypernatremia | oio:hasExactSynonym |
+| Increased level of albumin in blood (HP:0012117) | Hyperalbuminemia | oio:hasExactSynonym |
+| Increased level of sulfate in urine (HP:0012613) | increased level of sulfate in urine | oio:hasExactSynonym |
+| Increased level of alkaline phosphatase, placental type in blood (HP:0010682) | Elevated placental alkaline phosphatase | oio:hasExactSynonym |
+| Increased level of histidine in urine (HP:0002927) | Histidinuria | oio:hasExactSynonym |
+| Increased level of phenylalanine in cerebrospinal fluid (HP:0500223) | Increased CSF phenylalanine concentration | oio:hasExactSynonym |
+| Abnormal blood very-low-density lipoprotein cholesterol level (HP:0031889) | Abnormal VLDL cholesterol concentration | oio:hasExactSynonym |
+| Increased level of gastrin in blood (HP:0500167) | increased level of gastrin in blood | oio:hasExactSynonym |
+| Increased level of neopterins in cerebrospinal fluid (HP:0040204) | Elevated CSF neopterin level | oio:hasExactSynonym |
+| Increased level of ethylmalonic acid in urine (HP:0003219) | increased level of ethylmalonic acid in urine | oio:hasExactSynonym |
+| Increased level of tyrosine in blood (HP:0003231) | Hypertyrosinemia | oio:hasExactSynonym |
+| Increased level of 1-methylhistidine in urine (HP:0410315) | increased level of 1-methylhistidine in urine | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid biopterins level (HP:0040207) | Abnormal CSF biopterin concentration | oio:hasExactSynonym |
+| Decreased level of carnosine in blood (HP:0500162) | Decreased circulating carnosine concentration | oio:hasExactSynonym |
+| Increased level of hemoglobin in urine (HP:0003641) | Hemoglobinuria | oio:hasExactSynonym |
+| Decreased level of histidine in cerebrospinal fluid (HP:0500237) | Decreased CSF histidine concentration | oio:hasExactSynonym |
+| Increased level of arginine in urine (HP:0003268) | Argininuria | oio:hasExactSynonym |
+| Abnormal blood 3,3',5-triiodo-L-thyronine level (HP:0032209) | Abnormal circulating free T3 concentration | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid lysine level (HP:0500206) | Abnormal CSF lysine concentration | oio:hasExactSynonym |
+| Increased level of histidine in cerebrospinal fluid (HP:0500236) | Increased CSF histidine concentration | oio:hasExactSynonym |
+| Increased level of methionine in blood (HP:0003235) | Hypermethioninemia | oio:hasExactSynonym |
+| Increased level of sulfate in urine (HP:0012613) | Increased urinary sulfate | oio:hasExactSynonym |
+| Decreased level of biopterins in cerebrospinal fluid (HP:0040209) | Decreased CSF biopterin level | oio:hasExactSynonym |
+| Decreased level of glucose-6-phosphate 1-dehydrogenase in tissue (HP:0410187) | Decreased glucose-6-phosphate dehydrogenase level in tissue | oio:hasExactSynonym |
+| Increased level of uric acid in urine (HP:0003149) | Hyperuricosuria | oio:hasExactSynonym |
+| Abnormal urine sulfate level (HP:0012612) | Abnormal urinary sulfate concentration | oio:hasExactSynonym |
+| Decreased level of hydrogencarbonate in urine (HP:0045011) | Decreased urine bicarbonate concentration | oio:hasExactSynonym |
+| Increased level of nitrogen in blood (HP:0002157) | increased level of nitrogen molecular entity in blood | oio:hasExactSynonym |
+| Increased level of arginine in blood (HP:0500153) | Hyperargininemia | oio:hasExactSynonym |
+| Increased level of ethanolamines in blood (HP:0500250) | increased level of ethanolamines in blood | oio:hasExactSynonym |
+| Increased level of ornithine in urine (HP:0003532) | Ornithinuria | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid alpha-aminobutyrate level (HP:0500247) | Abnormal CSF alpha-aminobutyrate concentration | oio:hasExactSynonym |
+| Abnormal blood dioxygen level (HP:0500259) | Abnormal oxygen level in cord blood | oio:hasExactSynonym |
+| Increased level of gamma-aminobutyric acid in blood (HP:0410053) | Elevated circulating gamma-aminobutyric acid concentration | oio:hasExactSynonym |
+| Increased level of L-aspartic acid in blood (HP:0500159) | Increased circulating aspartic acid concentration | oio:hasExactSynonym |
+| Increased level of homocarnosine in cerebrospinal fluid (HP:0500242) | increased level of homocarnosine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of dopamine in urine (HP:0011979) | Elevated urinary dopamine level | oio:hasExactSynonym |
+| Increased level of tryptophan in blood (HP:0500134) | Hypertryptophanemia | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid carnosine level (HP:0500240) | Abnormal CSF carnosine concentration | oio:hasExactSynonym |
+| Increased level of glycine in cerebrospinal fluid (HP:0500230) | Increased CSF glycine concentration | oio:hasExactSynonym |
+| Increased level of threonine in cerebrospinal fluid (HP:0500212) | increased level of threonine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of ethylmalonic acid in urine (HP:0003219) | Ethylmalonic aciduria | oio:hasExactSynonym |
+| Decreased level of leucine in blood (HP:0500143) | Hypoleucinemia | oio:hasExactSynonym |
+| Increased level of cortisol in urine (HP:0012030) | increased level of cortisol in urine | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid albumin level (HP:0500238) | Abnormal CSF albumin concentration | oio:hasExactSynonym |
+| Decreased level of copper in blood (HP:0011967) | Decreased circulating copper concentration | oio:hasExactSynonym |
+| Increased level of sebacic acid in urine (HP:0500252) | Increased urine sebacic acid concentration | oio:hasExactSynonym |
+| Increased level of (R)-2-hydroxyglutaric acid in urine (HP:0012321) | D-2-hydroxyglutaric aciduria | oio:hasExactSynonym |
+| Increased level of carnosine in blood (HP:0500161) | increased level of carnosine in blood | oio:hasExactSynonym |
+| Decreased level of iron in blood (HP:0040303) | Decreased circulating iron concentration | oio:hasExactSynonym |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500234) | Decreased CSF alanine concentration | oio:hasExactSynonym |
+| Decreased level of adiponectin (human) in blood (HP:0030685) | Decreased adiponectin level | oio:hasExactSynonym |
+| Abnormal blood L-asparagine level (HP:0500155) | Abnormal circulating asparagine concentration | oio:hasExactSynonym |
+| Decreased level of threonine in cerebrospinal fluid (HP:0500213) | Decreased CSF threonine concentration | oio:hasExactSynonym |
+| Increased level of heparan sulfate in blood (HP:0410342) | Increased circulating heparan sulfate level | oio:hasExactSynonym |
+| Increased level of ethanolamines in blood (HP:0500250) | Increased circulating ethanolamine concentration | oio:hasExactSynonym |
+| Increased level of glycopeptide in urine (HP:0012067) | Glycopeptiduria | oio:hasExactSynonym |
+| Increased level of citrulline in cerebrospinal fluid (HP:0500246) | Increased CSF citrulline concentration | oio:hasExactSynonym |
+| Decreased level of chloride in urine (HP:0012601) | Hypochloriduria | oio:hasExactSynonym |
+| Increased level of potassium in blood (HP:0002153) | increased level of potassium atom in blood | oio:hasExactSynonym |
+| Increased level of proline in urine (HP:0003137) | increased level of proline in urine | oio:hasExactSynonym |
+| Decreased level of albumin in cerebrospinal fluid (HP:0500239) | Increased CSF albumin concentration | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid glutamic acid level (HP:0500199) | Abnormal CSF glutamate concentration | oio:hasExactSynonym |
+| Increased level of glutamine in cerebrospinal fluid (HP:0500197) | Increased CSF glutamine concentration | oio:hasExactSynonym |
+| Abnormal urine chloride level (HP:0012600) | Abnormal urine chloride concentration | oio:hasExactSynonym |
+| Decreased level of 1-methylhistidine in urine (HP:0410314) | Decreased urinary 1-methylhistidine | oio:hasExactSynonym |
+| Increased level of triglyceride in blood (HP:0002155) | Hypertriglyceridemia | oio:hasExactSynonym |
+| Increased level of cystathionine in urine (HP:0003153) | Cystathioninuria | oio:hasExactSynonym |
+| Decreased level of neopterins in cerebrospinal fluid (HP:0040205) | Decreased CSF neopterin level | oio:hasExactSynonym |
+| Increased level of serine in blood (HP:0500138) | increased level of serine in blood | oio:hasExactSynonym |
+| Increased level of hydrogencarbonate in urine (HP:0003646) | increased level of hydrogencarbonate in urine | oio:hasExactSynonym |
+| Abnormal urine hydrogencarbonate level (HP:0011279) | Abnormality of urine bicarbonate level | oio:hasExactSynonym |
+| Increased level of intestinal alkaline phosphatase in blood (HP:0010681) | increased level of intestinal alkaline phosphatase in blood | oio:hasExactSynonym |
+| Abnormal urine N-acylglycine level (HP:0012073) | Abnormal urinary acylglycine profile | oio:hasExactSynonym |
+| Increased level of glucose in urine (HP:0003076) | increased level of glucose in urine | oio:hasExactSynonym |
+| Decreased level of gamma-aminobutyric acid in blood (HP:0410054) | Decreased circulating GABA concentration | oio:hasExactSynonym |
+| Increased level of sebacic acid in urine (HP:0500252) | increased level of sebacic acid in urine | oio:hasExactSynonym |
+| Increased level of ornithine in urine (HP:0003532) | increased level of ornithine in urine | oio:hasExactSynonym |
+| Increased level of heparan sulfate in urine (HP:0002159) | increased level of heparan sulfate in urine | oio:hasExactSynonym |
+| Decreased level of albumin in cerebrospinal fluid (HP:0025458) | Decreased CSF albumin concentration | oio:hasExactSynonym |
+| Increased level of histidine in urine (HP:0002927) | increased level of histidine in urine | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid aspartate family amino acid level (HP:0500205) | Abnormal CSF aspartate family amino acid concentration | oio:hasExactSynonym |
+| Increased level of gamma-aminobutyric acid in urine (HP:0500253) | increased level of gamma-aminobutyric acid in urine | oio:hasExactSynonym |
+| Increased level of very-low-density lipoprotein cholesterol in blood (HP:0003362) | increased level of very-low-density lipoprotein cholesterol in blood | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid histidine level (HP:0500235) | Abnormal CSF histidine concentration | oio:hasExactSynonym |
+| Increased level of isoleucine in cerebrospinal fluid (HP:0500193) | Increased CSF isoleucine concentration | oio:hasExactSynonym |
+| Increased level of testosterone in blood (HP:0030088) | increased level of testosterone in blood | oio:hasExactSynonym |
+| Increased level of serine in blood (HP:0500138) | Hyperserinemia | oio:hasExactSynonym |
+| Increased level of hypoxanthine in urine (HP:0011814) | increased level of hypoxanthine in urine | oio:hasExactSynonym |
+| Increased level of sodium in blood (HP:0003228) | increased level of sodium atom in blood | oio:hasExactSynonym |
+| Increased level of porphyrins in urine (HP:0010473) | increased level of porphyrins in urine | oio:hasExactSynonym |
+| Increased level of calcium in urine (HP:0002150) | Hypercalciuria | oio:hasExactSynonym |
+| Increased level of zinc in blood (HP:0011424) | Increased serum zinc | oio:hasExactSynonym |
+| Increased level of methylmalonic acid in urine (HP:0012120) | Methylmalonic aciduria | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid aromatic amino acid level (HP:0500214) | Abnormal CSF aromatic amino acid concentration | oio:hasExactSynonym |
+| Increased level of uric acid in urine (HP:0003149) | increased level of uric acid in urine | oio:hasExactSynonym |
+| Increased level of 5-aminolevulinic acid in urine (HP:0003163) | increased level of 5-aminolevulinic acid in urine | oio:hasExactSynonym |
+| Increased level of leucine in cerebrospinal fluid (HP:0500191) | Increased CSF leucine concentration | oio:hasExactSynonym |
+| Increased level of urea in blood (HP:0003138) | increased level of urea in blood | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid dopamine level (HP:0012654) | Abnormal CSF dopamine concentration | oio:hasExactSynonym |
+| Increased level of phenylalanine in cerebrospinal fluid (HP:0500223) | increased level of phenylalanine in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of protein in blood (HP:0002152) | increased level of protein in blood | oio:hasExactSynonym |
+| Increased level of glucose in urine (HP:0003076) | Glycosuria | oio:hasExactSynonym |
+| Increased level of iduronate 2-sulfatase in blood (HP:0003538) | increased level of iduronate 2-sulfatase in blood | oio:hasExactSynonym |
+| Increased level of serotonin in blood (HP:0003144) | increased level of serotonin in blood | oio:hasExactSynonym |
+| Increased level of galactonate in blood (HP:0410063) | increased level of galactonate in blood | oio:hasExactSynonym |
+| Increased level of dopamine in cerebrospinal fluid (HP:0012655) | increased level of dopamine in cerebrospinal fluid | oio:hasExactSynonym |
+| Decreased level of heparan sulfate in blood (HP:0410343) | Decreased circulating heparan sulfate level | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid phenylalanine level (HP:0500215) | Abnormal CSF phenylalanine concentration | oio:hasExactSynonym |
+| Decreased level of phenylalanine-4-hydroxylase in blood (HP:0005982) | Reduced phenylalanine hydroxylase level | oio:hasExactSynonym |
+| Increased level of carnosine in urine (HP:0003167) | Carnosinuria | oio:hasExactSynonym |
+| Increased level of cortisol in blood (HP:0003118) | increased level of cortisol in blood | oio:hasExactSynonym |
+| Decreased level of isoleucine in blood (HP:0500144) | Hypoisoleucinemia | oio:hasExactSynonym |
+| Increased level of glutaric acid in urine (HP:0003150) | increased level of glutaric acid in urine | oio:hasExactSynonym |
+| Increased level of urate salt in cerebrospinal fluid (HP:0410199) | Increased CSF urate concentration | oio:hasExactSynonym |
+| Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) | Increased CSF valine concentration | oio:hasExactSynonym |
+| Increased level of alpha-aminobutyrate in cerebrospinal fluid (HP:0500248) | increased level of alpha-aminobutyrate in cerebrospinal fluid | oio:hasExactSynonym |
+| Increased level of galactose in urine (HP:0012023) | increased level of galactose in urine | oio:hasExactSynonym |
+| Increased level of galactose in urine (HP:0012023) | Galactosuria | oio:hasExactSynonym |
+| Increased level of high-density lipoprotein cholesterol in blood (HP:0012184) | increased level of high-density lipoprotein cholesterol in blood | oio:hasExactSynonym |
+| Abnormal urine 2-oxoglutaric acid level (HP:0012401) | Abnormal urine alpha-ketoglutarate concentration | oio:hasExactSynonym |
+| Increased level of protoporphyrins in blood (HP:0012187) | Increased erythrocyte protoporphyrin concentration | oio:hasExactSynonym |
+| Decreased level of corticosterone in blood (HP:0032363) | Decreased circulating corticosterone level | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid urate salt level (HP:0500117) | Abnormal CSF urate concentration | oio:hasExactSynonym |
+| Abnormal cerebrospinal fluid branched-chain amino acid level (HP:0500185) | Abnormal CSF branched chain amino acid concentration | oio:hasExactSynonym |
+
+
+
+
+Nodes renamed: 239
+
+| ID | Old Label | New Label |
+----|----|----|
+| HP:0003231 | Hypertyrosinemia | Increased level of tyrosine in blood |
+| HP:0410343 | Decreased circulating heparan sulfate level | Decreased level of heparan sulfate in blood |
+| HP:0003137 | Prolinuria | Increased level of proline in urine |
+| HP:0410187 | Decreased glucose-6-phosphate dehydrogenase level in tissue | Decreased level of glucose-6-phosphate 1-dehydrogenase in tissue |
+| HP:0003538 | Increased iduronate sulfatase level | Increased level of iduronate 2-sulfatase in blood |
+| HP:0003568 | Decreased glucosephosphate isomerase level | Decreased level of glucose-6-phosphate isomerase in blood |
+| HP:0003233 | Decreased HDL cholesterol concentration | Decreased level of high-density lipoprotein cholesterol in blood |
+| HP:0003159 | Hyperoxaluria | Increased level of oxalate in urine |
+| HP:0410198 | Decreased erythrocyte UDP glucose-4-epimerase concentration | Decreased level of UDP-glucose 4-epimerase in erythrocyte |
+| HP:0500226 | Abnormal CSF serine concentration | Abnormal cerebrospinal fluid serine level |
+| HP:0500228 | Decreased CSF serine concentration | Decreased level of serine in cerebrospinal fluid |
+| HP:0002157 | Azotemia | Increased level of nitrogen in blood |
+| HP:0500244 | Increased CSF ornithine concentration | Increased level of ornithine in cerebrospinal fluid |
+| HP:0500213 | Decreased CSF threonine concentration | Decreased level of threonine in cerebrospinal fluid |
+| HP:0500136 | Hypothreoninemia | Decreased level of threonine in blood |
+| HP:0500159 | Increased circulating aspartic acid concentration | Increased level of L-aspartic acid in blood |
+| HP:0012100 | Abnormal circulating creatinine concentration | Abnormal blood creatinine level |
+| HP:0500236 | Increased CSF histidine concentration | Increased level of histidine in cerebrospinal fluid |
+| HP:0500184 | Abnormal CSF amino acid concentration | Abnormal cerebrospinal fluid amino acid level |
+| HP:0003641 | Hemoglobinuria | Increased level of hemoglobin in urine |
+| HP:0003532 | Ornithinuria | Increased level of ornithine in urine |
+| HP:0500206 | Abnormal CSF lysine concentration | Abnormal cerebrospinal fluid lysine level |
+| HP:0003639 | Elevated urinary epinephrine level | Increased level of adrenaline in urine |
+| HP:0012600 | Abnormal urine chloride concentration | Abnormal urine chloride level |
+| HP:0012120 | Methylmalonic aciduria | Increased level of methylmalonic acid in urine |
+| HP:0500222 | Increased CSF tryptophan concentration | Increased level of tryptophan in cerebrospinal fluid |
+| HP:0500203 | Increased CSF arginine concentration | Increased level of arginine in cerebrospinal fluid |
+| HP:0500207 | Decreased CSF lysine concentration | Decreased level of lysine in cerebrospinal fluid |
+| HP:0002149 | Hyperuricemia | Increased level of uric acid in blood |
+| HP:0002914 | Hyperchloriduria | Increased level of chloride in urine |
+| HP:0410318 | Decreased urinary 3-methylhistidine | Decreased level of 3-methylhistidine in urine |
+| HP:0011031 | Abnormality of iron homeostasis | Abnormal blood iron cation level |
+| HP:0500183 | Abnormal CSF carboxylic acid concentration | Abnormal cerebrospinal fluid carboxylic acid level |
+| HP:0030985 | Decreased serum bile acid concentration | Decreased level of bile acid in blood |
+| HP:0002152 | Hyperproteinemia | Increased level of protein in blood |
+| HP:0500147 | Hypoglutaminemia | Decreased level of glutamine in blood |
+| HP:0500227 | Increased CSF serine concentration | Increased level of serine in cerebrospinal fluid |
+| HP:0500230 | Increased CSF glycine concentration | Increased level of glycine in cerebrospinal fluid |
+| HP:0500132 | Hypovalinemia | Decreased level of valine in blood |
+| HP:0410057 | Increased level of D-threitol in plasma | Increased level of D-threitol in blood |
+| HP:0031889 | Abnormal VLDL cholesterol concentration | Abnormal blood very-low-density lipoprotein cholesterol level |
+| HP:0012127 | Uraciluria | Increased level of uracil in urine |
+| HP:0045011 | Decreased urine bicarbonate concentration | Decreased level of hydrogencarbonate in urine |
+| HP:0500220 | Increased CSF tyrosine concentration | Decreased level of tyrosine in cerebrospinal fluid |
+| HP:0012613 | Increased urinary sulfate | Increased level of sulfate in urine |
+| HP:0500209 | Abnormal CSF methionine concentration | Abnormal cerebrospinal fluid methionine level |
+| HP:0005982 | Reduced phenylalanine hydroxylase level | Decreased level of phenylalanine-4-hydroxylase in blood |
+| HP:0500234 | Decreased CSF alanine concentration | Decreased level of alanine in cerebrospinal fluid |
+| HP:0012612 | Abnormal urinary sulfate concentration | Abnormal urine sulfate level |
+| HP:0040209 | Decreased CSF biopterin level | Decreased level of biopterins in cerebrospinal fluid |
+| HP:0003228 | Hypernatremia | Increased level of sodium in blood |
+| HP:0410056 | Decreased CSF erythritol concentration | Decreased level of erythritol in cerebrospinal fluid |
+| HP:0500211 | Abnormal CSF threonine concentration | Abnormal cerebrospinal fluid threonine level |
+| HP:0003080 | Hydroxyprolinuria | Increased level of 4-hydroxy-L-proline in urine |
+| HP:0500221 | Decreased CSF tyrosine concentration | Increased level of tyrosine in cerebrospinal fluid |
+| HP:0010839 | Increased urinary copper concentration | Increased level of copper in urine |
+| HP:0500152 | Hypocystinemia | Decreased level of cystine in blood |
+| HP:0003118 | Increased circulating cortisol level | Increased level of cortisol in blood |
+| HP:0012030 | Increased urinary cortisol level | Increased level of cortisol in urine |
+| HP:0011279 | Abnormality of urine bicarbonate level | Abnormal urine hydrogencarbonate level |
+| HP:0003113 | Hypochloremia | Decreased level of chloride in blood |
+| HP:0500239 | Increased CSF albumin concentration | Decreased level of albumin in cerebrospinal fluid |
+| HP:0410314 | Decreased urinary 1-methylhistidine | Decreased level of 1-methylhistidine in urine |
+| HP:0010681 | Elevated intestinal alkaline phosphatase | Increased level of intestinal alkaline phosphatase in blood |
+| HP:0010916 | Abnormal circulating alanine concentration | Abnormal blood alanine level |
+| HP:0003344 | 3-Methylglutaric aciduria | Increased level of 3-methylglutaric acid in urine |
+| HP:0500229 | Abnormal CSF glycine concentration | Abnormal cerebrospinal fluid glycine level |
+| HP:0500204 | Decreased CSF arginine concentration | Decreased level of arginine in cerebrospinal fluid |
+| HP:0500251 | Abnormal urine sebacic acid concentration | Abnormal urine sebacic acid level |
+| HP:0040301 | Increased urinary glycerol | Increased level of glycerol in urine |
+| HP:0410193 | Abnormal circulating UDP glucose-4-epimerase concentration | Abnormal blood UDP-glucose 4-epimerase level |
+| HP:0410342 | Increased circulating heparan sulfate level | Increased level of heparan sulfate in blood |
+| HP:0032209 | Abnormal circulating free T3 concentration | Abnormal blood 3,3',5-triiodo-L-thyronine level |
+| HP:0040205 | Decreased CSF neopterin level | Decreased level of neopterins in cerebrospinal fluid |
+| HP:0010679 | Elevated tissue non-specific alkaline phosphatase | Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood |
+| HP:0500201 | Decreased CSF glutamate concentration | Decreased level of glutamic acid in cerebrospinal fluid |
+| HP:0002917 | Hypomagnesemia | Decreased level of magnesium in blood |
+| HP:0500192 | Abnormal CSF isoleucine concentration | Abnormal cerebrospinal fluid isoleucine level |
+| HP:0002927 | Histidinuria | Increased level of histidine in urine |
+| HP:0500140 | Decreased circulating hydroxyproline concentration | Decreased level of trans-4-hydroxy-L-proline in blood |
+| HP:0012184 | Increased HDL cholesterol concentration | Increased level of high-density lipoprotein cholesterol in blood |
+| HP:0010473 | Porphyrinuria | Increased level of porphyrins in urine |
+| HP:0040208 | Elevated CSF biopterin level | Increased level of biopterins in cerebrospinal fluid |
+| HP:0012601 | Hypochloriduria | Decreased level of chloride in urine |
+| HP:0003268 | Argininuria | Increased level of arginine in urine |
+| HP:0500242 | Increased CSF homocarnosine concentration | Increased level of homocarnosine in cerebrospinal fluid |
+| HP:0012187 | Increased erythrocyte protoporphyrin concentration | Increased level of protoporphyrins in blood |
+| HP:0500154 | Hypoalaninemia | Decreased level of alanine in blood |
+| HP:0012417 | Hypocapnia | Decreased level of carbon dioxide in blood |
+| HP:0500225 | Abnormal CSF serine family amino acid concentration | Abnormal cerebrospinal fluid serine family amino acid level |
+| HP:0500195 | Abnormal CSF glutamine family amino acid concentration | Abnormal cerebrospinal fluid glutamine family amino acid level |
+| HP:0040303 | Decreased circulating iron concentration | Decreased level of iron in blood |
+| HP:0003163 | Elevated urinary delta-aminolevulinic acid | Increased level of 5-aminolevulinic acid in urine |
+| HP:0003150 | Glutaric aciduria | Increased level of glutaric acid in urine |
+| HP:0500138 | Hyperserinemia | Increased level of serine in blood |
+| HP:0500162 | Decreased circulating carnosine concentration | Decreased level of carnosine in blood |
+| HP:0410064 | Increased level of galactitol in red blood cells | Increased level of galactitol in blood |
+| HP:0025458 | Decreased CSF albumin concentration | Decreased level of albumin in cerebrospinal fluid |
+| HP:0003260 | Hydroxyprolinemia | Increased level of trans-4-hydroxy-L-proline in blood |
+| HP:0012655 | Elevated CSF dopamine concentration | Increased level of dopamine in cerebrospinal fluid |
+| HP:0500205 | Abnormal CSF aspartate family amino acid concentration | Abnormal cerebrospinal fluid aspartate family amino acid level |
+| HP:0500167 | Hypergastrinemia | Increased level of gastrin in blood |
+| HP:0500193 | Increased CSF isoleucine concentration | Increased level of isoleucine in cerebrospinal fluid |
+| HP:0003138 | Increased blood urea nitrogen | Increased level of urea in blood |
+| HP:0012073 | Abnormal urinary acylglycine profile | Abnormal urine N-acylglycine level |
+| HP:0500215 | Abnormal CSF phenylalanine concentration | Abnormal cerebrospinal fluid phenylalanine level |
+| HP:0003362 | Increased VLDL cholesterol concentration | Increased level of very-low-density lipoprotein cholesterol in blood |
+| HP:0500139 | Hypoprolinemia | Decreased level of proline in blood |
+| HP:0500190 | Decreased CSF leucine concentration | Decreased level of leucine in cerebrospinal fluid |
+| HP:0040210 | Abnormal circulating biopterin concentration | Abnormal blood biopterins level |
+| HP:0500133 | Hypotyrosinemia | Decreased level of tyrosine in blood |
+| HP:0100513 | Decreased circulating vitamin E concentration | Decreased level of vitamin E in blood |
+| HP:0004369 | Decreased circulating purine concentration | Decreased level of purines in urine |
+| HP:0500233 | Increased CSF alanine concentration | Decreased level of alanine in cerebrospinal fluid |
+| HP:0500240 | Abnormal CSF carnosine concentration | Abnormal cerebrospinal fluid carnosine level |
+| HP:0003145 | Decreased circulating adenosylcobalamin concentration | Decreased level of cobamamide in blood |
+| HP:0011424 | Increased serum zinc | Increased level of zinc in blood |
+| HP:0500237 | Decreased CSF histidine concentration | Decreased level of histidine in cerebrospinal fluid |
+| HP:0003361 | Tryptophanuria | Increased level of tryptophan in urine |
+| HP:0410058 | Increased CSF D-threitol concentration | Increased level of D-threitol in cerebrospinal fluid |
+| HP:0500258 | Abnormal carbon dioxide level in cord blood | Abnormal blood carbon dioxide level |
+| HP:0500208 | Increased CSF lysine concentration | Increased level of lysine in cerebrospinal fluid |
+| HP:0500248 | Increased CSF alpha-aminobutyrate concentration | Increased level of alpha-aminobutyrate in cerebrospinal fluid |
+| HP:0012101 | Decreased serum creatinine | Decreased level of creatinine in blood |
+| HP:0500142 | Hypolysinemia | Decreased level of lysine in blood |
+| HP:0410071 | Increased CSF ribitol concentration | Increased level of ribitol in cerebrospinal fluid |
+| HP:0410199 | Increased CSF urate concentration | Increased level of urate salt in cerebrospinal fluid |
+| HP:0410075 | Increased CSF xylitol concentration | Increased level of xylitol in cerebrospinal fluid |
+| HP:0500196 | Abnormal CSF glutamine concentration | Abnormal cerebrospinal fluid glutamine level |
+| HP:0500145 | Hypohistidinemia | Decreased level of histidine in blood |
+| HP:0500238 | Abnormal CSF albumin concentration | Abnormal cerebrospinal fluid albumin level |
+| HP:0002159 | Heparan sulfate excretion in urine | Increased level of heparan sulfate in urine |
+| HP:0012112 | Abnormal circulating corticosterone level | Abnormal blood corticosterone level |
+| HP:0500235 | Abnormal CSF histidine concentration | Abnormal cerebrospinal fluid histidine level |
+| HP:0034298 | Elevated circulating hexacosanoic acid concentration | Increased level of hexacosanoic acid in blood |
+| HP:0500259 | Abnormal oxygen level in cord blood | Abnormal blood dioxygen level |
+| HP:0500232 | Abnormal CSF alanine concentration | Abnormal cerebrospinal fluid alanine level |
+| HP:0500194 | Decreased CSF isoleucine concentration | Decreased level of isoleucine in cerebrospinal fluid |
+| HP:0040204 | Elevated CSF neopterin level | Increased level of neopterins in cerebrospinal fluid |
+| HP:0500185 | Abnormal CSF branched chain amino acid concentration | Abnormal cerebrospinal fluid branched-chain amino acid level |
+| HP:0002155 | Hypertriglyceridemia | Increased level of triglyceride in blood |
+| HP:0410053 | Elevated circulating gamma-aminobutyric acid concentration | Increased level of gamma-aminobutyric acid in blood |
+| HP:0003223 | Decreased circulating methylcobalamin concentration | Decreased level of methylcobalamin in blood |
+| HP:0500158 | Abnormal circulating aspartic acid concentration | Abnormal blood L-aspartic acid level |
+| HP:0500135 | Hypotryptophanemia | Decreased level of tryptophan in blood |
+| HP:0010682 | Elevated placental alkaline phosphatase | Increased level of alkaline phosphatase, placental type in blood |
+| HP:0010967 | Abnormal circulating carnitine concentration | Abnormal blood carnitine level |
+| HP:0003239 | Phosphoethanolaminuria | Increased level of phosphoethanolamine in urine |
+| HP:0012067 | Glycopeptiduria | Increased level of glycopeptide in urine |
+| HP:0410061 | Increased level of galactitol in plasma | Increased level of galactitol in blood |
+| HP:0032363 | Decreased circulating corticosterone level | Decreased level of corticosterone in blood |
+| HP:0003153 | Cystathioninuria | Increased level of cystathionine in urine |
+| HP:0003076 | Glycosuria | Increased level of glucose in urine |
+| HP:0410073 | Increased CSF ribose concentration | Increased level of ribose in cerebrospinal fluid |
+| HP:0012401 | Abnormal urine alpha-ketoglutarate concentration | Abnormal urine 2-oxoglutaric acid level |
+| HP:0040214 | Abnormal circulating insulin concentration | Abnormal blood insulin gene translation product level |
+| HP:0410195 | Decreased circulating UDP glucose-4-epimerase concentration | Decreased level of UDP-glucose 4-epimerase in blood |
+| HP:0003292 | Decreased serum leptin | Decreased level of leptin in blood |
+| HP:0003359 | Decreased urinary sulfate | Decreased level of sulfate in urine |
+| HP:0500155 | Abnormal circulating asparagine concentration | Abnormal blood L-asparagine level |
+| HP:0500241 | Abnormal CSF homocarnosine concentration | Abnormal cerebrospinal fluid homocarnosine level |
+| HP:0100493 | Hypoammonemia | Decreased level of ammonia in blood |
+| HP:0500197 | Increased CSF glutamine concentration | Increased level of glutamine in cerebrospinal fluid |
+| HP:0500191 | Increased CSF leucine concentration | Increased level of leucine in cerebrospinal fluid |
+| HP:0011814 | Increased urinary hypoxanthine level | Increased level of hypoxanthine in urine |
+| HP:0045034 | Elevated urinary aminoisobutyric acid | Increased level of 3-aminoisobutyric acid in urine |
+| HP:0030086 | Reduced CSF lactate | Decreased level of lactate in cerebrospinal fluid |
+| HP:0030088 | Increased serum testosterone level | Increased level of testosterone in blood |
+| HP:0040426 | Decreased urinary hypoxanthine level | Decreased level of hypoxanthine in urine |
+| HP:0012603 | Abnormal urine sodium concentration | Abnormal urine sodium level |
+| HP:0003167 | Carnosinuria | Increased level of carnosine in urine |
+| HP:0500187 | Increased CSF valine concentration | Increased level of carboxylic acid in cerebrospinal fluid |
+| HP:0003452 | Increased circulating iron concentration | Increased level of iron in blood |
+| HP:0410317 | Increased urinary 3-methylhistidine | Increased level of 3-methylhistidine in urine |
+| HP:0500245 | Abnormal CSF citrulline concentration | Abnormal cerebrospinal fluid citrulline level |
+| HP:0012656 | Reduced CSF dopamine concentration | Decreased level of dopamine in cerebrospinal fluid |
+| HP:0410316 | Abnormal urinary 3-methylhistidine level | Abnormal urine 3-methylhistidine level |
+| HP:0003296 | Hyperthreoninuria | Increased level of threonine in urine |
+| HP:0500144 | Hypoisoleucinemia | Decreased level of isoleucine in blood |
+| HP:0045057 | Decreased circulating alpha-fetoprotein concentration | Decreased level of alpha-fetoprotein in blood |
+| HP:0500223 | Increased CSF phenylalanine concentration | Increased level of phenylalanine in cerebrospinal fluid |
+| HP:0002919 | Ketonuria | Increased level of ketone in urine |
+| HP:0500247 | Abnormal CSF alpha-aminobutyrate concentration | Abnormal cerebrospinal fluid alpha-aminobutyrate level |
+| HP:0002922 | Increased CSF protein concentration | Increased level of protein in cerebrospinal fluid |
+| HP:0500161 | Increased circulating carnosine concentration | Increased level of carnosine in blood |
+| HP:0500199 | Abnormal CSF glutamate concentration | Abnormal cerebrospinal fluid glutamic acid level |
+| HP:0002153 | Hyperkalemia | Increased level of potassium in blood |
+| HP:0010981 | Hypolipoproteinemia | Decreased level of lipoprotein cholesterol in blood |
+| HP:0003646 | Bicarbonaturia | Increased level of hydrogencarbonate in urine |
+| HP:0003235 | Hypermethioninemia | Increased level of methionine in blood |
+| HP:0500143 | Hypoleucinemia | Decreased level of leucine in blood |
+| HP:0011979 | Elevated urinary dopamine level | Increased level of dopamine in urine |
+| HP:0003154 | Increased circulating ACTH level | Increased level of corticotropin in blood |
+| HP:0500134 | Hypertryptophanemia | Increased level of tryptophan in blood |
+| HP:0500231 | Abnormal CSF pyruvate family amino acid concentration | Abnormal cerebrospinal fluid pyruvate family amino acid level |
+| HP:0500212 | Increased CSF threonine concentration | Increased level of threonine in cerebrospinal fluid |
+| HP:0410197 | Increased erythrocyte UDP glucose-4-epimerase concentration | Increased level of UDP-glucose 4-epimerase in erythrocyte |
+| HP:0003234 | Decreased circulating carnitine concentration | Decreased level of carnitine in blood |
+| HP:0003297 | Hyperlysinuria | Increased level of lysine in urine |
+| HP:0500246 | Increased CSF citrulline concentration | Increased level of citrulline in cerebrospinal fluid |
+| HP:0012418 | Hypoxemia | Decreased level of dioxygen in blood |
+| HP:0012321 | D-2-hydroxyglutaric aciduria | Increased level of (R)-2-hydroxyglutaric acid in urine |
+| HP:0002150 | Hypercalciuria | Increased level of calcium in urine |
+| HP:0012023 | Galactosuria | Increased level of galactose in urine |
+| HP:0410315 | Increased urinary 1-methylhistidine | Increased level of 1-methylhistidine in urine |
+| HP:0500252 | Increased urine sebacic acid concentration | Increased level of sebacic acid in urine |
+| HP:0012654 | Abnormal CSF dopamine concentration | Abnormal cerebrospinal fluid dopamine level |
+| HP:0500250 | Increased circulating ethanolamine concentration | Increased level of ethanolamines in blood |
+| HP:0500243 | Abnormal CSF ornithine concentration | Abnormal cerebrospinal fluid ornithine level |
+| HP:0500153 | Hyperargininemia | Increased level of arginine in blood |
+| HP:0003149 | Hyperuricosuria | Increased level of uric acid in urine |
+| HP:0500163 | Hypoornithinemia | Decreased level of ornithine in blood |
+| HP:0011967 | Decreased circulating copper concentration | Decreased level of copper in blood |
+| HP:0003144 | Increased serum serotonin | Increased level of serotonin in blood |
+| HP:0040207 | Abnormal CSF biopterin concentration | Abnormal cerebrospinal fluid biopterins level |
+| HP:0003219 | Ethylmalonic aciduria | Increased level of ethylmalonic acid in urine |
+| HP:0410063 | Increased level of galactonate in red blood cells | Increased level of galactonate in blood |
+| HP:0410215 | Hypocapnia in cord blood | Decreased level of carbon dioxide in umbilical cord blood |
+| HP:0030685 | Decreased adiponectin level | Decreased level of adiponectin (human) in blood |
+| HP:0012153 | Hypotriglyceridemia | Decreased level of triglyceride in blood |
+| HP:0410054 | Decreased circulating GABA concentration | Decreased level of gamma-aminobutyric acid in blood |
+| HP:0500210 | Increased CSF methionine concentration | Increased level of methionine in cerebrospinal fluid |
+| HP:0500186 | Abnormal CSF valine concentration | Abnormal cerebrospinal fluid valine level |
+| HP:0012070 | Chondroitin sulfate excretion in urine | Increased level of chondroitin sulfate in urine |
+| HP:0500214 | Abnormal CSF aromatic amino acid concentration | Abnormal cerebrospinal fluid aromatic amino acid level |
+| HP:0040156 | Elevated urinary carboxylic acid | Increased level of carboxylic acid in urine |
+| HP:0003345 | Elevated urinary norepinephrine level | Increased level of noradrenaline in urine |
+| HP:0500117 | Abnormal CSF urate concentration | Abnormal cerebrospinal fluid urate salt level |
+| HP:0010911 | Hyperleucinemia | Increased level of leucine in blood |
+| HP:0012117 | Hyperalbuminemia | Increased level of albumin in blood |
+| HP:0002161 | Hyperlysinemia | Increased level of lysine in blood |
+| HP:0012364 | Decreased urinary potassium | Decreased level of potassium in urine |
+| HP:0410194 | Increased circulating UDP glucose-4-epimerase concentration | Increased level of UDP-glucose 4-epimerase in blood |
+| HP:0010980 | Hyperlipoproteinemia | Increased level of lipoprotein cholesterol in blood |
+| HP:0012111 | Abnormality of circulating glucocorticoid level | Abnormal blood glucocorticoid level |
+| HP:0500224 | Decreased CSF phenylalanine concentration | Decreased level of phenylalanine in cerebrospinal fluid |
+| HP:0500198 | Decreased CSF glutamine concentration | Decreased level of glutamine in cerebrospinal fluid |
+| HP:0003155 | Elevated circulating alkaline phosphatase concentration | Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood |
+| HP:0500219 | Abnormal CSF tyrosine concentration | Abnormal cerebrospinal fluid tyrosine level |
+
+
+
+
+Text definitions changed: 239
+
+| Term | Old Text Definition | New Text Definition |
+----|----|----|
+| Abnormal urine hydrogencarbonate level (HP:0011279) | An abnormal amount of hydrogencarbonate in the urine. | An abnormal amount of hydrogencarbonate in the urine. |
+| Decreased level of leucine in cerebrospinal fluid (HP:0500190) | Abnormally decreased levels of leucine in the cerebrospinal fluid. | A decrease in the level of leucine in cerebrospinal fluid. |
+| Abnormal urine chloride level (HP:0012600) | An abnormal concentration of chloride in the urine. | An abnormal concentration of chloride in the urine. |
+| Increased level of homocarnosine in cerebrospinal fluid (HP:0500242) | Abnormally increased levels of homocarnosine in cerebrospinal fluid. | Abnormally increased levels of homocarnosine in cerebrospinal fluid. |
+| Abnormal blood corticosterone level (HP:0012112) | An abnormality of the concentration of corticosterone in the blood. | An abnormal level of corticosterone in the blood. |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500234) | Abnormally decreased levels of alanine in cerebrospinal fluid. | A decrease in the level of alanine in cerebrospinal fluid. |
+| Decreased level of 3-methylhistidine in urine (HP:0410318) | Decreased concentration of 3-methylhistidine in the urine. | A decrease in the level of 3-methylhistidine in urine. |
+| Increased level of cortisol in urine (HP:0012030) | Abnormally increased concentration of cortisol in the urine. | Abnormally increased concentration of cortisol in the urine. |
+| Decreased level of UDP-glucose 4-epimerase in erythrocyte (HP:0410198) | A decrease in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. | A decrease in the level of UDP-glucose 4-epimerase in erythrocyte. |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) | An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. | An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. |
+| Increased level of galactonate in blood (HP:0410063) | An increase in the level of galactonate in the red blood cells. | An increase in the level of galactonate in blood. |
+| Increased level of glycine in cerebrospinal fluid (HP:0500230) | Abnormally increased levels of glycine in cerebrospinal fluid. | Abnormally increased levels of glycine in cerebrospinal fluid. |
+| Increased level of UDP-glucose 4-epimerase in blood (HP:0410194) | An increase in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. | An increase in the level of UDP-glucose 4-epimerase in blood. |
+| Increased level of 3-methylhistidine in urine (HP:0410317) | Increased concentration of 3-methylhistidine in the urine. | An increase in the level of 3-methylhistidine in urine. |
+| Increased level of arginine in blood (HP:0500153) | An increased amount of arginine levels in the blood. | An increase in the level of arginine in blood. |
+| Decreased level of carnosine in blood (HP:0500162) | A decreased amount of carnosine in blood. | A decrease in the level of carnosine in blood. |
+| Increased level of D-threitol in blood (HP:0410057) | An increase in the level of D-threitol in the plasma. | An increase in the level of D-threitol in blood. |
+| Abnormal urine N-acylglycine level (HP:0012073) | An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. | An abnormal distribution of N-acylglycines in the urine. There are numerous different N-acylglycines, and this term refers to pathological alterations in their level or distribution. |
+| Increased level of alkaline phosphatase, placental type in blood (HP:0010682) | An abnormally increased level of alkaline phosphatase, placental type in the blood. | An abnormally increased level of alkaline phosphatase, placental type in the blood. |
+| Increased level of 5-aminolevulinic acid in urine (HP:0003163) | An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. | An increase in the level of 5-aminolevulinic acid in urine. |
+| Abnormal urine sodium level (HP:0012603) | An abnormal concentration of sodium in the urine. | An abnormal concentration of sodium in the urine. |
+| Increased level of D-threitol in cerebrospinal fluid (HP:0410058) | The concentration of D-threitol in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of D-threitol in cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid glutamic acid level (HP:0500199) | Any deviation from the normal concentration of glutamic acid in the cerebrospinal fluid. | An abnormal level of glutamic acid in the cerebrospinal fluid. |
+| Decreased level of magnesium in blood (HP:0002917) | An abnormally decreased magnesium concentration in the blood. | A decrease in the level of magnesium in blood. |
+| Decreased level of phenylalanine in cerebrospinal fluid (HP:0500224) | Abnormally decreased levels of phenylalanine in cerebrospinal fluid. | A decrease in the level of phenylalanine in cerebrospinal fluid. |
+| Increased level of L-aspartic acid in blood (HP:0500159) | An increased concentration of aspartic acid in the blood circulation. | An increase in the level of L-aspartic acid in blood. |
+| Increased level of carnosine in blood (HP:0500161) | Concentration of carnosine in the blood circulation above normal limits. | An increase in the level of carnosine in blood. |
+| Abnormal cerebrospinal fluid alanine level (HP:0500232) | Any deviation from the normal concentration of alanine in the cerebrospinal fluid. | An abnormal level of alanine in the cerebrospinal fluid. |
+| Increased level of zinc in blood (HP:0011424) | An increased concentration of zinc in the blood. | An increase in the level of zinc in blood. |
+| Increased level of galactitol in blood (HP:0410064) | An increase in the level of galactitol in the red blood cells. | An increase in the level of galactitol in blood. |
+| Increased level of serotonin in blood (HP:0003144) | A increased concentration of serotonin in the blood. | A increased concentration of serotonin in the blood. |
+| Abnormal cerebrospinal fluid glycine level (HP:0500229) | Any deviation from the normal concentration of glycine in the cerebrospinal fluid. | An abnormal level of glycine in the cerebrospinal fluid. |
+| Decreased level of sulfate in urine (HP:0003359) | Decreased concentration of sulfate in the urine. | A decrease in the level of sulfate in urine. |
+| Decreased level of lipoprotein cholesterol in blood (HP:0010981) | An abnormal decrease in the level of lipoprotein cholesterol in the blood. | A decrease in the level of lipoprotein cholesterol in blood. |
+| Increased level of histidine in cerebrospinal fluid (HP:0500236) | Abnormally increased levels of histidine in cerebrospinal fluid. | Abnormally increased levels of histidine in cerebrospinal fluid. |
+| Decreased level of adiponectin (human) in blood (HP:0030685) | A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. | A decrease in the level of adiponectin (human) in blood. |
+| Increased level of gamma-aminobutyric acid in blood (HP:0410053) | An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. | An increase in the level of Gamma-aminobutyric acid (GABA) in the blood circulation. |
+| Abnormal blood carbon dioxide level (HP:0500258) | Abnormal amount of carbon dioxide in umbilical cord blood | Abnormal amount of carbon dioxide in umbilical cord blood |
+| Increased level of carnosine in urine (HP:0003167) | An increased concentration of carnosine in the urine. | An increase in the level of carnosine in urine. |
+| Decreased level of dioxygen in blood (HP:0012418) | An abnormally low level of blood oxygen. | A decrease in the level of dioxygen in blood. |
+| Abnormal blood dioxygen level (HP:0500259) | An abnormal level of blood oxygen in the cord blood. | An abnormal level of blood oxygen in the cord blood. |
+| Abnormal cerebrospinal fluid carboxylic acid level (HP:0500183) | Any deviation from the normal concentration of a carboxylic acid in the cerebrospinal fluid. | An abnormal level of carboxylic acid in the cerebrospinal fluid. |
+| Abnormal blood L-asparagine level (HP:0500155) | Any deviation from the normal concentration of asparagine in the blood circulation. | An abnormal level of L-asparagine in the blood. |
+| Decreased level of serine in cerebrospinal fluid (HP:0500228) | Abnormally decreased levels of serine in cerebrospinal fluid. | A decrease in the level of serine in cerebrospinal fluid. |
+| Increased level of protein in blood (HP:0002152) | An increased concentration of proteins in the blood. | An increase in the level of protein in blood. |
+| Abnormal urine sebacic acid level (HP:0500251) | Abnormal concentration of sebacic acid in the urine. | Abnormal concentration of sebacic acid in the urine. |
+| Increased level of glutamine in cerebrospinal fluid (HP:0500197) | Abnormally increased levels of glutamine in cerebrospinal fluid. | Abnormally increased levels of glutamine in cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid branched-chain amino acid level (HP:0500185) | Any deviation from the normal concentration of branched-chain amino acids in the cerebrospinal fluid. | An abnormal level of branched-chain amino acid in the cerebrospinal fluid. |
+| Increased level of heparan sulfate in urine (HP:0002159) | An increased concentration of heparan sulfates in the urine. | An increase in the level of heparan sulfate in urine. |
+| Decreased level of leptin in blood (HP:0003292) | A decreased concentration of leptin in the blood. | A decrease in the level of leptin in blood. |
+| Increased level of copper in urine (HP:0010839) | An increased concentration of copper in the urine. | An increase in the level of copper in urine. |
+| Abnormal urine 3-methylhistidine level (HP:0410316) | Abnormal amount of 3-methylhistidine in the urine. | Abnormal amount of 3-methylhistidine in the urine. |
+| Decreased level of copper in blood (HP:0011967) | A reduced concentration of copper in the blood. | A decrease in the level of copper in blood. |
+| Decreased level of iron in blood (HP:0040303) | The concentration of iron in the blood circulation is below the lower limit of normal. | A decrease in the level of iron in blood. |
+| Increased level of potassium in blood (HP:0002153) | An abnormally increased potassium concentration in the blood. | An abnormally increased potassium concentration in the blood. |
+| Increased level of serine in blood (HP:0500138) | An increased amount of serine in the blood. | An increase in the level of serine in blood. |
+| Increased level of phosphoethanolamine in urine (HP:0003239) | An increased level of phosphoethanolamine (synonym: O-phosphoethanolamine) in the urine. | An increase in the level of phosphoethanolamine in urine. |
+| Abnormal cerebrospinal fluid urate salt level (HP:0500117) | Abnormal concentration of urate in the cerebrospinal fluid (CSF). | Abnormal concentration of urate in the cerebrospinal fluid (CSF). |
+| Decreased level of leucine in blood (HP:0500143) | Decreased amount of leucine in the blood. | A decrease in the level of leucine in blood. |
+| Increased level of galactose in urine (HP:0012023) | Elevated concentration of galactose in the urine. | An increase in the level of galactose in urine. |
+| Increased level of leucine in cerebrospinal fluid (HP:0500191) | Abnormally increased levels of leucine in cerebrospinal fluid. | Abnormally increased levels of leucine in cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid citrulline level (HP:0500245) | Any deviation from the normal concentration of citrulline in the cerebrospinal fluid. | An abnormal level of citrulline in the cerebrospinal fluid. |
+| Decreased level of valine in blood (HP:0500132) | A decreased amount of valine in the blood. | A decrease in the level of valine in blood. |
+| Increased level of methionine in cerebrospinal fluid (HP:0500210) | Concentration of methionine in the cerebrospinal fluid above the upper limit of normal. | An increase in the level of methionine in cerebrospinal fluid. |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) | Abnormally increased serum levels of alkaline phosphatase activity. | Abnormally increased serum levels of alkaline phosphatase activity. |
+| Increased level of sodium in blood (HP:0003228) | An abnormally increased sodium concentration in the blood. | An abnormally increased sodium concentration in the blood. |
+| Increased level of proline in urine (HP:0003137) | Level of proline in the urine anove the upper limit of normal. | An increase in the level of proline in urine. |
+| Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) | Any increased amount from normal of valine in the cerebrospinal fluid. | An increase in the level of carboxylic acid in cerebrospinal fluid. |
+| Increased level of xylitol in cerebrospinal fluid (HP:0410075) | The concentration of xylitol in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of xylitol in cerebrospinal fluid. |
+| Increased level of hexacosanoic acid in blood (HP:0034298) | Elevated concentration of hexacosanoic acid (a C26 straight-chain saturated fatty acid) in the blood circulation. | An increase in the level of hexacosanoic acid in blood. |
+| Decreased level of vitamin E in blood (HP:0100513) | A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. | A decrease in the level of vitamin E in blood. |
+| Decreased level of corticosterone in blood (HP:0032363) | An abnormally reduced concentration of corticosterone in the blood. | A decrease in the level of corticosterone in blood. |
+| Increased level of leucine in blood (HP:0010911) | An increased concentration of leucine in the blood. | An increase in the level of leucine in blood. |
+| Abnormal blood UDP-glucose 4-epimerase level (HP:0410193) | An abnormality in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. | An abnormal level of UDP-glucose 4-epimerase in the blood. |
+| Abnormal blood carbon dioxide level (HP:0500164) | An abnormality of carbon dioxide (CO2) in the arterial blood. | An abnormal level of carbon dioxide in the blood. |
+| Abnormal cerebrospinal fluid albumin level (HP:0500238) | Any deviation from the normal concentration of albumin in the cerebrospinal fluid. | An abnormal level of albumin in the cerebrospinal fluid. |
+| Increased level of glutaric acid in urine (HP:0003150) | The concentration of glutaric acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of glutaric acid in urine. |
+| Increased level of intestinal alkaline phosphatase in blood (HP:0010681) | An abnormally increased level of alkaline phosphatase, intestinal type in the blood. | An abnormally increased level of alkaline phosphatase, intestinal type in the blood. |
+| Increased level of hydrogencarbonate in urine (HP:0003646) | Abnormally increased concentration of hydrogencarbonate in the urine. | Abnormally increased concentration of hydrogencarbonate in the urine. |
+| Increased level of gastrin in blood (HP:0500167) | An elevated amount of gastrin in the blood. | An elevated amount of gastrin in the blood. |
+| Decreased level of glucose-6-phosphate 1-dehydrogenase in tissue (HP:0410187) | A decrease in the level of glucose-6-phosphate dehydrogenase in tissue. | A decrease in the level of glucose-6-phosphate 1-dehydrogenase in tissue. |
+| Increased level of citrulline in cerebrospinal fluid (HP:0500246) | Abnormally increased levels of citrulline in cerebrospinal fluid. | Abnormally increased levels of citrulline in cerebrospinal fluid. |
+| Decreased level of bile acid in blood (HP:0030985) | A reduction in the concentration of bile acid in the blood. | A decrease in the level of bile acid in blood. |
+| Decreased level of methylcobalamin in blood (HP:0003223) | The concentration of methylcobalamin in the blood circulation is below the lower limit of normal. Methylcobalamin is a form of vitamin B12. | A decrease in the level of methylcobalamin in blood. |
+| Decreased level of ornithine in blood (HP:0500163) | An abnormal decrease in ornithine in the blood. | A decrease in the level of ornithine in blood. |
+| Abnormal blood iron cation level (HP:0011031) | An abnormality of the homeostasis (concentration) of iron cation. | An abnormal level of iron cation in the blood. |
+| Decreased level of glutamine in blood (HP:0500147) | Decreased amount of glutamine in the blood. | A decrease in the level of glutamine in blood. |
+| Increased level of methionine in blood (HP:0003235) | An increased concentration of methionine in the blood. | An increase in the level of methionine in blood. |
+| Decreased level of tyrosine in cerebrospinal fluid (HP:0500220) | Abnormally increased levels of tyrosine in cerebrospinal fluid. | A decrease in the level of tyrosine in cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid ornithine level (HP:0500243) | Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. | An abnormal level of ornithine in the cerebrospinal fluid. |
+| Decreased level of purines in urine (HP:0004369) | Abnormally reduced concentration of a purine compound. Purine compounds are aromatic heterocyclic compounds containing a purine moiety, which is formed a pyrimidine-ring ring fused to an imidazole ring. | A decrease in the level of purines in urine. |
+| Decreased level of trans-4-hydroxy-L-proline in blood (HP:0500140) | A decreased amount of hydroxyproline in the blood. | A decrease in the level of trans-4-hydroxy-L-proline in blood. |
+| Abnormal cerebrospinal fluid isoleucine level (HP:0500192) | Any deviation from the normal concentration of isoleucine in the cerebrospinal fluid. | An abnormal level of isoleucine in the cerebrospinal fluid. |
+| Decreased level of chloride in urine (HP:0012601) | An decreased concentration of chloride in the urine. | A decrease in the level of chloride in urine. |
+| Abnormal cerebrospinal fluid phenylalanine level (HP:0500215) | Any deviation from the normal concentration of phenylalanine in the cerebrospinal fluid. | An abnormal level of phenylalanine in the cerebrospinal fluid. |
+| Decreased level of ammonia in blood (HP:0100493) | A decreased concentration of ammonia in the blood. | A decrease in the level of ammonia in blood. |
+| Increased level of (R)-2-hydroxyglutaric acid in urine (HP:0012321) | An increased concentration of 2-hydroxyglutaric acid in the urine. | An increase in the level of (R)-2-hydroxyglutaric acid in urine. |
+| Abnormal blood creatinine level (HP:0012100) | An abnormal concentration of creatinine in the blood. | An abnormal concentration of creatinine in the blood. |
+| Abnormal blood alanine level (HP:0010916) | An abnormality of an alanine metabolic process. | An abnormal level of alanine in the blood. |
+| Abnormal blood very-low-density lipoprotein cholesterol level (HP:0031889) | Any deviation from the normal concentration of very-low-density lipoprotein cholesterol in the blood. | An abnormal level of very-low-density lipoprotein cholesterol in the blood. |
+| Decreased level of UDP-glucose 4-epimerase in blood (HP:0410195) | A decrease in uridine diphosphate glucose-4-epimerase level in plasma. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. | A decrease in the level of UDP-glucose 4-epimerase in blood. |
+| Increased level of tryptophan in blood (HP:0500134) | An increased amount of tryptophan in the blood. | An increase in the level of tryptophan in blood. |
+| Abnormal cerebrospinal fluid alpha-aminobutyrate level (HP:0500247) | Any deviation from the normal concentration of alpha-aminobutyrate in the cerebrospinal fluid. | An abnormal level of alpha-aminobutyrate in the cerebrospinal fluid. |
+| Increased level of oxalate in urine (HP:0003159) | Increased excretion of oxalates in the urine. | An increase in the level of oxalate in urine. |
+| Decreased level of threonine in blood (HP:0500136) | A decreased amount of threonine in the blood. | A decrease in the level of threonine in blood. |
+| Decreased level of histidine in blood (HP:0500145) | A decreased amount of histidine in the blood. | A decrease in the level of histidine in blood. |
+| Increased level of arginine in urine (HP:0003268) | A increased concentration of arginine in the urine. | A increased concentration of arginine in the urine. |
+| Decreased level of arginine in cerebrospinal fluid (HP:0500204) | Abnormally decreased levels of arginine in cerebrospinal fluid. | A decrease in the level of arginine in cerebrospinal fluid. |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500233) | Abnormally increased levels of alanine in cerebrospinal fluid. | A decrease in the level of alanine in cerebrospinal fluid. |
+| Increased level of porphyrins in urine (HP:0010473) | Abnormally increased excretion of porphyrins in the urine. | Abnormally increased excretion of porphyrins in the urine. |
+| Increased level of ethanolamines in blood (HP:0500250) | Abnormally increased levels of ethanolamine in circulation. | Abnormally increased levels of ethanolamine in circulation. |
+| Increased level of protein in cerebrospinal fluid (HP:0002922) | Increased concentration of protein in the cerebrospinal fluid. | An increase in the level of protein in cerebrospinal fluid. |
+| Decreased level of lactate in cerebrospinal fluid (HP:0030086) | Decreased concentration of lactate in the cerebrospinal fluid. | A decrease in the level of lactate in cerebrospinal fluid. |
+| Decreased level of chloride in blood (HP:0003113) | An abnormally decreased chloride concentration in the blood. | A decrease in the level of chloride in blood. |
+| Increased level of lipoprotein cholesterol in blood (HP:0010980) | An abnormal increase in the level of lipoprotein cholesterol in the blood. | An abnormal increase in the level of lipoprotein cholesterol in the blood. |
+| Decreased level of 1-methylhistidine in urine (HP:0410314) | Decreased concentration of 1-methylhistidine in the urine. | A decrease in the level of 1-methylhistidine in urine. |
+| Decreased level of creatinine in blood (HP:0012101) | An abnormally reduced amount of creatinine in the blood. | A decrease in the level of creatinine in blood. |
+| Abnormal cerebrospinal fluid biopterins level (HP:0040207) | Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). | Abnormal concentration of biopterin in the cerebrospinal fluid (CSF). |
+| Decreased level of neopterins in cerebrospinal fluid (HP:0040205) | Decreased concentration of neopterin in the cerebrospinal fluid (CSF). | A decrease in the level of neopterins in cerebrospinal fluid. |
+| Increased level of phenylalanine in cerebrospinal fluid (HP:0500223) | Abnormally increased levels of phenylalanine in cerebrospinal fluid. | Abnormally increased levels of phenylalanine in cerebrospinal fluid. |
+| Increased level of isoleucine in cerebrospinal fluid (HP:0500193) | Abnormally increased levels of isoleucine in cerebrospinal fluid. | Abnormally increased levels of isoleucine in cerebrospinal fluid. |
+| Decreased level of high-density lipoprotein cholesterol in blood (HP:0003233) | An decreased concentration of high-density lipoprotein cholesterol in the blood. | A decrease in the level of high-density lipoprotein cholesterol in blood. |
+| Decreased level of tyrosine in blood (HP:0500133) | An decreased concentration of tyrosine in the blood. | A decrease in the level of tyrosine in blood. |
+| Decreased level of tryptophan in blood (HP:0500135) | A decreased amount of tryptophan in the blood. | A decrease in the level of tryptophan in blood. |
+| Abnormal cerebrospinal fluid amino acid level (HP:0500184) | Any deviation from the normal concentration of amino acids in the cerebrospinal fluid. | An abnormal level of amino acid in the cerebrospinal fluid. |
+| Decreased level of triglyceride in blood (HP:0012153) | An decrease in the level of triglycerides in the blood. | A decrease in the level of triglyceride in blood. |
+| Abnormal blood carnitine level (HP:0010967) | Any deviation from the normal concentration of carnitine in the blood circulation. | An abnormal level of carnitine in the blood. |
+| Decreased level of glutamic acid in cerebrospinal fluid (HP:0500201) | Abnormally decreased levels of glutamic acid in cerebrospinal fluid. | A decrease in the level of glutamic acid in cerebrospinal fluid. |
+| Increased level of urea in blood (HP:0003138) | An increased amount of nitrogen in the form of urea in the blood. | An increase in the level of urea in blood. |
+| Decreased level of carbon dioxide in umbilical cord blood (HP:0410215) | Abnormally decreased blood carbon dioxide (CO2) level in the cord blood. | A decrease in the level of carbon dioxide in umbilical cord blood. |
+| Abnormal cerebrospinal fluid pyruvate family amino acid level (HP:0500231) | Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. | An abnormal level of pyruvate family amino acid in the cerebrospinal fluid. |
+| Decreased level of isoleucine in blood (HP:0500144) | A decreased amount of isoleucine in the blood. | A decrease in the level of isoleucine in blood. |
+| Decreased level of glutamine in cerebrospinal fluid (HP:0500198) | Abnormally decreased levels of glutamine in cerebrospinal fluid. | A decrease in the level of glutamine in cerebrospinal fluid. |
+| Increased level of tyrosine in blood (HP:0003231) | An increased concentration of tyrosine in the blood. | An increase in the level of tyrosine in blood. |
+| Increased level of uracil in urine (HP:0012127) | Increased concentration of uracil in the urine. | An increase in the level of uracil in urine. |
+| Decreased level of carbon dioxide in blood (HP:0012417) | Abnormally reduced blood carbon dioxide (CO2) level. | A decrease in the level of carbon dioxide in blood. |
+| Increased level of ribose in cerebrospinal fluid (HP:0410073) | The concentration of ribose in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of ribose in cerebrospinal fluid. |
+| Decreased level of histidine in cerebrospinal fluid (HP:0500237) | Abnormally decreased levels of histidine in cerebrospinal fluid. | A decrease in the level of histidine in cerebrospinal fluid. |
+| Decreased level of glucose-6-phosphate isomerase in blood (HP:0003568) | A decreased level of glucose-6-phosphate isomerase. | A decrease in the level of glucose-6-phosphate isomerase in blood. |
+| Increased level of iron in blood (HP:0003452) | The concentration of iron in the blood circulation is above the upper limit of normal. | An increase in the level of iron in blood. |
+| Increased level of ornithine in cerebrospinal fluid (HP:0500244) | Abnormally increased levels of ornithine in cerebrospinal fluid. | Abnormally increased levels of ornithine in cerebrospinal fluid. |
+| Increased level of cortisol in blood (HP:0003118) | Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. | An increase in the level of cortisol in blood. |
+| Increased level of very-low-density lipoprotein cholesterol in blood (HP:0003362) | An increase in the amount of very-low-density lipoprotein cholesterol in the blood. | An increase in the amount of very-low-density lipoprotein cholesterol in the blood. |
+| Increased level of lysine in urine (HP:0003297) | An increased concentration of lysine in the urine. | An increase in the level of lysine in urine. |
+| Abnormal cerebrospinal fluid aromatic amino acid level (HP:0500214) | Any deviation from the normal concentration of aromatic amino acids in the cerebrospinal fluid. | An abnormal level of aromatic amino acid in the cerebrospinal fluid. |
+| Increased level of chondroitin sulfate in urine (HP:0012070) | An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. | An increase in the level of chondroitin sulfate in urine. |
+| Increased level of lysine in cerebrospinal fluid (HP:0500208) | Abnormally increased levels of lysine in cerebrospinal fluid. | Abnormally increased levels of lysine in cerebrospinal fluid. |
+| Increased level of threonine in cerebrospinal fluid (HP:0500212) | Abnormally increased levels of threonine in cerebrospinal fluid. | Abnormally increased levels of threonine in cerebrospinal fluid. |
+| Increased level of sebacic acid in urine (HP:0500252) | Elevated concentration of sebacic acid in the urine. | An increase in the level of sebacic acid in urine. |
+| Increased level of galactitol in blood (HP:0410061) | An increase in the level of galactitol in the plasma. | An increase in the level of galactitol in blood. |
+| Decreased level of threonine in cerebrospinal fluid (HP:0500213) | Abnormally decreased levels of threonine in cerebrospinal fluid. | A decrease in the level of threonine in cerebrospinal fluid. |
+| Increased level of urate salt in cerebrospinal fluid (HP:0410199) | Increased concentration of urate in the cerebrospinal fluid. | An increase in the level of urate salt in cerebrospinal fluid. |
+| Increased level of gamma-aminobutyric acid in urine (HP:0500253) | Elevated concentration of gamma-aminobutyric acid in the urine. | An increase in the level of gamma-aminobutyric acid in urine. |
+| Decreased level of erythritol in cerebrospinal fluid (HP:0410056) | Concentration of erythritol in the cerebrospinal fluid below the lower limit of normal. | A decrease in the level of erythritol in cerebrospinal fluid. |
+| Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) | An increased concentration of hydroxyproline in the blood. | An increase in the level of trans-4-hydroxy-L-proline in blood. |
+| Increased level of dopamine in cerebrospinal fluid (HP:0012655) | Increased concentration of dopamine in the cerebrospinal fluid (CSF). | An increase in the level of dopamine in cerebrospinal fluid. |
+| Increased level of sulfate in urine (HP:0012613) | Elevated concentration of SO4(2-), i.e., sulfate, in the urine. | An increase in the level of sulfate in urine. |
+| Abnormal cerebrospinal fluid histidine level (HP:0500235) | Any deviation from the normal concentration of histidine in the cerebrospinal fluid. | An abnormal level of histidine in the cerebrospinal fluid. |
+| Decreased level of hypoxanthine in urine (HP:0040426) | The concentration of hypoxanthine in the urine, normalized for urine concentration, is below the lower limit of normal. | A decrease in the level of hypoxanthine in urine. |
+| Increased level of 1-methylhistidine in urine (HP:0410315) | Increased concentration of 1-methylhistidine in the urine. | An increase in the level of 1-methylhistidine in urine. |
+| Decreased level of cobamamide in blood (HP:0003145) | The concentration of adenosylcobalam in the blood circulation is below the lower limit of normal. Adenosylcobalamin is one of the active forms of vitamin B12. | A decrease in the level of cobamamide in blood. |
+| Decreased level of isoleucine in cerebrospinal fluid (HP:0500194) | Abnormally decreased levels of isoleucine in cerebrospinal fluid. | A decrease in the level of isoleucine in cerebrospinal fluid. |
+| Decreased level of alanine in blood (HP:0500154) | A decreased amount of alanine in the blood. | A decrease in the level of alanine in blood. |
+| Increased level of protoporphyrins in blood (HP:0012187) | Concentration of protoporphyrins in erythrocytes above the upper limit of normal. | An increase in the level of protoporphyrins in blood. |
+| Increased level of tryptophan in urine (HP:0003361) | An increased concentration of tryptophan in the urine. | An increase in the level of tryptophan in urine. |
+| Abnormal cerebrospinal fluid threonine level (HP:0500211) | Any deviation from the normal concentration of threonine in the cerebrospinal fluid. | An abnormal level of threonine in the cerebrospinal fluid. |
+| Increased level of hypoxanthine in urine (HP:0011814) | The concentration of hypoxanthine in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of hypoxanthine in urine. |
+| Abnormal cerebrospinal fluid lysine level (HP:0500206) | Any deviation from the normal concentration of lysine in the cerebrospinal fluid. | An abnormal level of lysine in the cerebrospinal fluid. |
+| Increased level of neopterins in cerebrospinal fluid (HP:0040204) | Increased concentration of neopterin in the cerebrospinal fluid (CSF). | An increase in the level of neopterins in cerebrospinal fluid. |
+| Increased level of triglyceride in blood (HP:0002155) | An abnormal increase in the level of triglycerides in the blood. | An abnormal increase in the level of triglycerides in the blood. |
+| Decreased level of heparan sulfate in blood (HP:0410343) | An abnormal decrease in the concentration of heparan sulfate in the blood. | A decrease in the level of heparan sulfate in blood. |
+| Decreased level of carnitine in blood (HP:0003234) | Concentration of carnitine in the blood circulation below the lower limit of normal. | A decrease in the level of carnitine in blood. |
+| Increased level of glycopeptide in urine (HP:0012067) | Increased excretion of glycopeptides in the urine. Glycopeptides are peptides with carbohydrate moieties covalently attached to the side chains of the amino acid residues. | An increase in the level of glycopeptide in urine. |
+| Increased level of glucose in urine (HP:0003076) | An increased concentration of glucose in the urine. | An increase in the level of glucose in urine. |
+| Increased level of dopamine in urine (HP:0011979) | The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of dopamine in urine. |
+| Increased level of tryptophan in cerebrospinal fluid (HP:0500222) | Abnormally increased levels of tryptophan in cerebrospinal fluid. | Abnormally increased levels of tryptophan in cerebrospinal fluid. |
+| Increased level of heparan sulfate in blood (HP:0410342) | An abnormal increase in the concentration of heparan sulfate in the blood. | An abnormal increase in the concentration of heparan sulfate in the blood. |
+| Decreased level of alpha-fetoprotein in blood (HP:0045057) | Concentration of alpha-fetoprotein in the blood circulation below the lower limit of normal. | A decrease in the level of alpha-fetoprotein in blood. |
+| Decreased level of lysine in cerebrospinal fluid (HP:0500207) | Abnormally decreased levels of lysine in cerebrospinal fluid. | A decrease in the level of lysine in cerebrospinal fluid. |
+| Increased level of ketone in urine (HP:0002919) | High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. | An increase in the level of ketone in urine. |
+| Decreased level of dopamine in cerebrospinal fluid (HP:0012656) | Decreased concentration of dopamine in the cerebrospinal fluid (CSF). | A decrease in the level of dopamine in cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid serine family amino acid level (HP:0500225) | Any deviation from the normal concentration of serine-family amino acids in the cerebrospinal fluid. | An abnormal level of serine family amino acid in the cerebrospinal fluid. |
+| Abnormal blood L-aspartic acid level (HP:0500158) | Any deviation from the normal concentration of aspartate in the blood circulation. | An abnormal level of L-aspartic acid in the blood. |
+| Increased level of histidine in urine (HP:0002927) | An increased concentration of histidine in the urine. | An increase in the level of histidine in urine. |
+| Increased level of adrenaline in urine (HP:0003639) | The concentration of epinephrine in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of adrenaline in urine. |
+| Abnormal cerebrospinal fluid valine level (HP:0500186) | Any deviation from the normal concentration of valine in the cerebrospinal fluid. | An abnormal level of valine in the cerebrospinal fluid. |
+| Abnormal blood insulin gene translation product level (HP:0040214) | An abnormal concentration of insulin in the body. | An abnormal concentration of insulin in the body. |
+| Increased level of high-density lipoprotein cholesterol in blood (HP:0012184) | An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. | An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. |
+| Increased level of 3-methylglutaric acid in urine (HP:0003344) | An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. | An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine. |
+| Increased level of alpha-aminobutyrate in cerebrospinal fluid (HP:0500248) | Concentration of alpha-aminobutyrate in the cerebrospinal fluid above the upper limit of normal. | An increase in the level of alpha-aminobutyrate in cerebrospinal fluid. |
+| Abnormal urine sulfate level (HP:0012612) | Abnormal concentration of sulfate in the urine. | Abnormal concentration of sulfate in the urine. |
+| Abnormal cerebrospinal fluid serine level (HP:0500226) | Any deviation from the normal concentration of serine in the cerebrospinal fluid. | An abnormal level of serine in the cerebrospinal fluid. |
+| Increased level of ornithine in urine (HP:0003532) | Level of ornithine in the urine above the upper limit of normal. | An increase in the level of ornithine in urine. |
+| Abnormal cerebrospinal fluid tyrosine level (HP:0500219) | Any deviation from the normal concentration of tyrosine in the cerebrospinal fluid. | An abnormal level of tyrosine in the cerebrospinal fluid. |
+| Increased level of serine in cerebrospinal fluid (HP:0500227) | Abnormally increased levels of serine in cerebrospinal fluid. | Abnormally increased levels of serine in cerebrospinal fluid. |
+| Increased level of chloride in urine (HP:0002914) | An increased concentration of chloride in the urine. | An increase in the level of chloride in urine. |
+| Increased level of arginine in cerebrospinal fluid (HP:0500203) | Abnormally increased levels of arginine in cerebrospinal fluid. | Abnormally increased levels of arginine in cerebrospinal fluid. |
+| Increased level of uric acid in urine (HP:0003149) | An abnormally high level of uric acid in the urine. | An abnormally high level of uric acid in the urine. |
+| Increased level of 3-aminoisobutyric acid in urine (HP:0045034) | An increased amount of 3-aminoisobutyric acid in the urine. | An increase in the level of 3-aminoisobutyric acid in urine. |
+| Abnormal blood glucocorticoid level (HP:0012111) | An abnormality of the concentration of a glucocorticoid in the blood. | An abnormal level of glucocorticoid in the blood. |
+| Abnormal cerebrospinal fluid dopamine level (HP:0012654) | Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). | Abnormal concentration of dopamine in the cerebrospinal fluid (CSF). |
+| Decreased level of gamma-aminobutyric acid in blood (HP:0410054) | A decrease in the level of GABA in the serum. | A decrease in the level of GABA in the serum. |
+| Increased level of 4-hydroxy-L-proline in urine (HP:0003080) | An increased concentration of 4-hydroxy-L-proline in the urine. | An increase in the level of 4-hydroxy-L-proline in urine. |
+| Decreased level of biopterins in cerebrospinal fluid (HP:0040209) | Concentration of biopterin in the cerebrospinal fluid (CSF) below the lower limit of normal. | A decrease in the level of biopterins in cerebrospinal fluid. |
+| Increased level of ethylmalonic acid in urine (HP:0003219) | The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of ethylmalonic acid in urine. |
+| Increased level of carboxylic acid in urine (HP:0040156) | An increased amount of carboxylic acid in the urine. | An increase in the level of carboxylic acid in urine. |
+| Increased level of testosterone in blood (HP:0030088) | An elevated circulating testosterone level in the blood. | An elevated circulating testosterone level in the blood. |
+| Increased level of hemoglobin in urine (HP:0003641) | The presence of free hemoglobin in the urine. | An increase in the level of hemoglobin in urine. |
+| Increased level of tyrosine in cerebrospinal fluid (HP:0500221) | Abnormally decreased levels of tyrosine in cerebrospinal fluid. | Abnormally decreased levels of tyrosine in cerebrospinal fluid. |
+| Decreased level of lysine in blood (HP:0500142) | A decreased amount of lysine in the blood. | A decrease in the level of lysine in blood. |
+| Decreased level of potassium in urine (HP:0012364) | A decreased concentration of potassium(1+) in the urine. | A decrease in the level of potassium in urine. |
+| Decreased level of phenylalanine-4-hydroxylase in blood (HP:0005982) | A reduction in phenylalanine 4-monooxygenase level. | A decrease in the level of phenylalanine-4-hydroxylase in blood. |
+| Abnormal cerebrospinal fluid methionine level (HP:0500209) | Any deviation from the normal concentration of methionine in the cerebrospinal fluid. | An abnormal level of methionine in the cerebrospinal fluid. |
+| Abnormal blood 3,3',5-triiodo-L-thyronine level (HP:0032209) | A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. | A deviation from the normal concentration of free triiodothyronine (T3) in the blood circulation. A proportion of T3 is bound to plasma proteins in the blood, including mainly thyroxine binding globulin, transthyretin, and albumin. T3 that is not bound to a protein is referred to as free T3. |
+| Increased level of threonine in urine (HP:0003296) | An increased concentration of threonine in the urine. | An increase in the level of threonine in urine. |
+| Increased level of UDP-glucose 4-epimerase in erythrocyte (HP:0410197) | An increase in uridine diphosphate glucose-4-epimerase level in red blood cells. Uridine diphosphate glucose-4-epimerase catalyzes the reaction: UDP-glucose = UDP-galactose. | An increase in the level of UDP-glucose 4-epimerase in erythrocyte. |
+| Increased level of cystathionine in urine (HP:0003153) | An elevated urinary concentration of cystathionine. | An elevated urinary concentration of cystathionine. |
+| Increased level of glycerol in urine (HP:0040301) | An increased concentration of glycerol in the urine. | An increase in the level of glycerol in urine. |
+| Increased level of lysine in blood (HP:0002161) | An increased concentration of lysine in the blood. | An increase in the level of lysine in blood. |
+| Abnormal blood biopterins level (HP:0040210) | A deviation from the normal concentration of biopterin in the blood circulation. | A deviation from the normal concentration of biopterin in the blood circulation. |
+| Decreased level of proline in blood (HP:0500139) | A decreased amount of proline in the blood. | A decrease in the level of proline in blood. |
+| Abnormal cerebrospinal fluid aspartate family amino acid level (HP:0500205) | Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. | An abnormal level of aspartate family amino acid in the cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid homocarnosine level (HP:0500241) | Any deviation from the normal concentration of homocarnosine in the cerebrospinal fluid. | An abnormal level of homocarnosine in the cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid glutamine level (HP:0500196) | Any deviation from the normal concentration of glutamine amino acids in the cerebrospinal fluid. | An abnormal level of glutamine in the cerebrospinal fluid. |
+| Increased level of iduronate 2-sulfatase in blood (HP:0003538) | An increased level of iduronate-2-sulfatase activity in the blood. | An increase in the level of iduronate 2-sulfatase in blood. |
+| Decreased level of cystine in blood (HP:0500152) | A decreased amount of cystine in the blood. | A decrease in the level of cystine in blood. |
+| Increased level of albumin in blood (HP:0012117) | Elevation in the concentration of albumin in the blood. | An increase in the level of albumin in blood. |
+| Decreased level of hydrogencarbonate in urine (HP:0045011) | Abnormally decreased concentration of hydrogencarbonate in the urine. | A decrease in the level of hydrogencarbonate in urine. |
+| Increased level of methylmalonic acid in urine (HP:0012120) | Increased concentration of methylmalonic acid in the urine. | An increase in the level of methylmalonic acid in urine. |
+| Increased level of uric acid in blood (HP:0002149) | An abnormally high level of uric acid in the blood. | An abnormally high level of uric acid in the blood. |
+| Abnormal urine 2-oxoglutaric acid level (HP:0012401) | A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. | A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. |
+| Increased level of biopterins in cerebrospinal fluid (HP:0040208) | Concentration of biopterin in the cerebrospinal fluid (CSF) above the upper limit of normal. | An increase in the level of biopterins in cerebrospinal fluid. |
+| Increased level of nitrogen in blood (HP:0002157) | An increased concentration of nitrogen compounds in the blood. | An increase in the level of nitrogen in blood. |
+| Increased level of ribitol in cerebrospinal fluid (HP:0410071) | The concentration of ribitol in the cerebrospinal fluid is above the upper limit of normal. | An increase in the level of ribitol in cerebrospinal fluid. |
+| Increased level of noradrenaline in urine (HP:0003345) | The concentration of noradrenaline in the urine, normalized for urine concentration, is above the upper limit of normal. | An increase in the level of noradrenaline in urine. |
+| Increased level of corticotropin in blood (HP:0003154) | An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. | An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. |
+| Decreased level of albumin in cerebrospinal fluid (HP:0025458) | CSF albumin level is below the lower limit of normal. | A decrease in the level of albumin in cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid carnosine level (HP:0500240) | Any deviation from the normal concentration of carnosine in the cerebrospinal fluid. | An abnormal level of carnosine in the cerebrospinal fluid. |
+| Abnormal cerebrospinal fluid glutamine family amino acid level (HP:0500195) | Any deviation from the normal concentration of glutamine-family amino acids in the cerebrospinal fluid. | An abnormal level of glutamine family amino acid in the cerebrospinal fluid. |
+
+
+
+
+Relationships added: 177
+
+| Subject | Predicate | Object|
+----|----|----|
+| Abnormal circulating organic amino compound concentration (HP:0033405) | subClassOf (rdfs:subClassOf) | Abnormal circulating nitrogen compound concentration (HP:0004364) |
+| Decreased level of albumin in cerebrospinal fluid (HP:0025458) | subClassOf (rdfs:subClassOf) | Increased level of protein in cerebrospinal fluid (HP:0002922) |
+| Increased level of testosterone in blood (HP:0030088) | subClassOf (rdfs:subClassOf) | Hyperketonemia (HP:0410175) |
+| Increased level of galactitol in blood (HP:0410064) | subClassOf (rdfs:subClassOf) | Abnormal cellular phenotype (HP:0025354) |
+| Abnormal circulating serine concentration (HP:0012278) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Decreased level of lipoprotein cholesterol in blood (HP:0010981) | subClassOf (rdfs:subClassOf) | Hypolipidemia (HP:0045014) |
+| Increased level of iduronate 2-sulfatase in blood (HP:0003538) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal circulating aspartate family amino acid concentration (HP:0010899) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating testosterone concentration (HP:0030087) | subClassOf (rdfs:subClassOf) | Abnormal circulating lipid concentration (HP:0003119) |
+| Increased level of testosterone in blood (HP:0030088) | subClassOf (rdfs:subClassOf) | Hyperlipidemia (HP:0003077) |
+| Abnormal circulating gastrin concentration (HP:0500166) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Hyperphosphaturia (HP:0003109) | subClassOf (rdfs:subClassOf) | Abnormal urinary electrolyte concentration (HP:0012591) |
+| Abnormal circulating histidine concentration (HP:0010904) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of ethanolamines in blood (HP:0500250) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal blood potassium concentration (HP:0011042) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) |
+| Abnormal blood oxygen level (HP:0500165) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) |
+| Abnormal circulating GABA concentration (HP:0034025) | subClassOf (rdfs:subClassOf) | Abnormal circulating monocarboxylic acid concentration (HP:0010996) |
+| Increased level of L-aspartic acid in blood (HP:0500159) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of alkaline phosphatase, placental type in blood (HP:0010682) | subClassOf (rdfs:subClassOf) | Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) |
+| Decreased level of trans-4-hydroxy-L-proline in blood (HP:0500140) | subClassOf (rdfs:subClassOf) | Abnormal circulating monocarboxylic acid concentration (HP:0010996) |
+| Abnormal circulating tryptophan concentration (HP:0004365) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of gamma-aminobutyric acid in blood (HP:0410053) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased level of methionine in cerebrospinal fluid (HP:0500210) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Abnormal circulating cysteine concentration (HP:0010918) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of serine in cerebrospinal fluid (HP:0500227) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased level of homocarnosine in cerebrospinal fluid (HP:0500242) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased level of lysine in cerebrospinal fluid (HP:0500208) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased circulating very long-chain fatty acid concentration (HP:0033643) | subClassOf (rdfs:subClassOf) | Abnormal circulating lipid concentration (HP:0003119) |
+| Decreased level of histidine in cerebrospinal fluid (HP:0500237) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Abnormal circulating tyrosine concentration (HP:0010917) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Decreased level of lysine in cerebrospinal fluid (HP:0500207) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Abnormal circulating pyruvate family amino acid concentration (HP:0010915) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of intestinal alkaline phosphatase in blood (HP:0010681) | subClassOf (rdfs:subClassOf) | Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) |
+| Decreased level of carbon dioxide in blood (HP:0012417) | subClassOf (rdfs:subClassOf) | Abnormal blood carbon dioxide level (HP:0500258) |
+| Abnormal circulating isoleucine concentration (HP:0010912) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Abnormal blood carbon dioxide level (HP:0500164) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic compound concentration (HP:0430071) |
+| Increased level of histidine in cerebrospinal fluid (HP:0500236) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Abnormal blood oxygen level (HP:0500165) | subClassOf (rdfs:subClassOf) | Abnormal blood gas level in cord blood (HP:0410211) |
+| Increased level of phenylalanine in cerebrospinal fluid (HP:0500223) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Abnormal blood carnitine level (HP:0010967) | subClassOf (rdfs:subClassOf) | Abnormal circulating nitrogen compound concentration (HP:0004364) |
+| Abnormal circulating isoleucine concentration (HP:0010912) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of phosphoethanolamine in urine (HP:0003239) | subClassOf (rdfs:subClassOf) | Hyperphosphaturia (HP:0003109) |
+| Aminoaciduria (HP:0003355) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in urine (HP:0040156) |
+| Decreased level of bile acid in blood (HP:0030985) | subClassOf (rdfs:subClassOf) | Hypolipidemia (HP:0045014) |
+| Abnormal blood L-aspartic acid level (HP:0500158) | subClassOf (rdfs:subClassOf) | Abnormal circulating dicarboxylic acid concentration (HP:0010995) |
+| Increased level of serotonin in blood (HP:0003144) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased level of hemoglobin in urine (HP:0003641) | subClassOf (rdfs:subClassOf) | Abnormal hemoglobin (HP:0011902) |
+| Decreased level of tyrosine in cerebrospinal fluid (HP:0500220) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased level of cortisol in blood (HP:0003118) | subClassOf (rdfs:subClassOf) | Hyperlipidemia (HP:0003077) |
+| Decreased level of corticosterone in blood (HP:0032363) | subClassOf (rdfs:subClassOf) | Hypolipidemia (HP:0045014) |
+| Abnormal circulating testosterone concentration (HP:0030087) | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased level of iduronate 2-sulfatase in blood (HP:0003538) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating valine concentration (HP:0010914) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal blood 3,3',5-triiodo-L-thyronine level (HP:0032209) | subClassOf (rdfs:subClassOf) | Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109) |
+| Decreased level of glucose-6-phosphate isomerase in blood (HP:0003568) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of leucine in blood (HP:0010911) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal circulating arginine concentration (HP:0010909) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating arginine concentration (HP:0010909) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of citrulline in cerebrospinal fluid (HP:0500246) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Abnormal circulating tyrosine concentration (HP:0010917) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of protoporphyrins in blood (HP:0012187) | subClassOf (rdfs:subClassOf) | Abnormal cellular phenotype (HP:0025354) |
+| Abnormal blood insulin gene translation product level (HP:0040214) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of lysine in urine (HP:0003297) | subClassOf (rdfs:subClassOf) | Diaminoaciduria (HP:0008339) |
+| Abnormal circulating protein concentration (HP:0010876) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Decreased level of serine in cerebrospinal fluid (HP:0500228) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Increased level of 5-aminolevulinic acid in urine (HP:0003163) | subClassOf (rdfs:subClassOf) | Aminoaciduria (HP:0003355) |
+| Increased level of arginine in cerebrospinal fluid (HP:0500203) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased circulating very long-chain fatty acid concentration (HP:0033643) | subClassOf (rdfs:subClassOf) | Hyperlipidemia (HP:0003077) |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500234) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Abnormal circulating leptin concentration (HP:0004361) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating glutamine concentration (HP:0010903) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500234) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased level of tyrosine in blood (HP:0003231) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal blood sodium concentration (HP:0010931) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) |
+| Increased level of lipoprotein cholesterol in blood (HP:0010980) | subClassOf (rdfs:subClassOf) | Hyperlipidemia (HP:0003077) |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500233) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Increased level of serine in blood (HP:0500138) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal erythrocyte UDP glucose-4-epimerase concentration (HP:0410196) | subClassOf (rdfs:subClassOf) | Abnormal cellular phenotype (HP:0025354) |
+| Decreased level of alanine in cerebrospinal fluid (HP:0500233) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased level of methionine in blood (HP:0003235) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal circulating serine concentration (HP:0012278) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Hyperketonemia (HP:0410175) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic compound concentration (HP:0430071) |
+| Abnormal blood carbon dioxide level (HP:0500258) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic compound concentration (HP:0430071) |
+| Decreased level of tyrosine in cerebrospinal fluid (HP:0500220) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Increased level of serotonin in blood (HP:0003144) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating histidine concentration (HP:0010904) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of ornithine in cerebrospinal fluid (HP:0500244) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased level of lysine in blood (HP:0002161) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased level of tryptophan in cerebrospinal fluid (HP:0500222) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Abnormal blood gas level in cord blood (HP:0410211) | subClassOf (rdfs:subClassOf) | Abnormal blood gas level (HP:0012415) |
+| Abnormal urinary hypoxanthine level (HP:0040425) | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) |
+| Increased level of tryptophan in blood (HP:0500134) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased level of gastrin in blood (HP:0500167) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal circulating leucine concentration (HP:0004357) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Decreased level of vitamin E in blood (HP:0100513) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic compound concentration (HP:0430071) |
+| Abnormal urinary pyrimidine level (HP:0033162) | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) |
+| Abnormal circulating aspartate family amino acid concentration (HP:0010899) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of hexacosanoic acid in blood (HP:0034298) | subClassOf (rdfs:subClassOf) | Increased circulating very long-chain fatty acid concentration (HP:0033643) |
+| Decreased level of phenylalanine in cerebrospinal fluid (HP:0500224) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Abnormal circulating glutamine concentration (HP:0010903) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal glucose-6-phosphate dehydrogenase level in tissue (HP:0410185) | subClassOf (rdfs:subClassOf) | Abnormal circulating protein concentration (HP:0010876) |
+| Abnormal circulating vitamin B12 concentration (HP:0040126) | subClassOf (rdfs:subClassOf) | Abnormal circulating nitrogen compound concentration (HP:0004364) |
+| Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of albumin in blood (HP:0012117) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Decreased level of phenylalanine-4-hydroxylase in blood (HP:0005982) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Decreased level of hypoxanthine in urine (HP:0040426) | subClassOf (rdfs:subClassOf) | Decreased level of purines in urine (HP:0004369) |
+| Abnormal circulating methionine concentration (HP:0010901) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating proline concentration (HP:0010907) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Decreased level of arginine in cerebrospinal fluid (HP:0500204) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Abnormal circulating proline concentration (HP:0010907) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Increased level of galactitol in blood (HP:0410061) | subClassOf (rdfs:subClassOf) | Abnormal cellular phenotype (HP:0025354) |
+| Decreased level of leucine in cerebrospinal fluid (HP:0500190) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) | subClassOf (rdfs:subClassOf) | Abnormality of alkaline phosphatase level (HP:0004379) |
+| Abnormal blood chloride concentration (HP:0011422) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) |
+| Increased level of cortisol in urine (HP:0012030) | subClassOf (rdfs:subClassOf) | Increased level of ketone in urine (HP:0002919) |
+| Decreased level of albumin in cerebrospinal fluid (HP:0500239) | subClassOf (rdfs:subClassOf) | Increased level of protein in cerebrospinal fluid (HP:0002922) |
+| Abnormality of mitochondrial metabolism (HP:0003287) | subClassOf (rdfs:subClassOf) | Abnormal cellular phenotype (HP:0025354) |
+| Abnormal circulating adrenocorticotropin concentration (HP:0011043) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating fatty-acid anion concentration (HP:0010966) | subClassOf (rdfs:subClassOf) | Abnormal circulating lipid concentration (HP:0003119) |
+| Abnormal circulating valine concentration (HP:0010914) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Abnormal circulating pyruvate family amino acid concentration (HP:0010915) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Abnormal blood transition element cation concentration (HP:0011030) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) |
+| Decreased level of cobamamide in blood (HP:0003145) | subClassOf (rdfs:subClassOf) | Abnormal circulating coenzyme concentration (HP:0034616) |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal circulating methionine concentration (HP:0010901) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of leucine in cerebrospinal fluid (HP:0500191) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Abnormal blood dioxygen level (HP:0500259) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) |
+| Abnormal magnesium concentration (HP:0004921) | subClassOf (rdfs:subClassOf) | Abnormal circulating metabolite concentration (HP:0032180) |
+| Increased level of galactonate in blood (HP:0410063) | subClassOf (rdfs:subClassOf) | Abnormal cellular phenotype (HP:0025354) |
+| Abnormal blood UDP-glucose 4-epimerase level (HP:0410193) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal hemoglobin (HP:0011902) | subClassOf (rdfs:subClassOf) | Abnormal cellular phenotype (HP:0025354) |
+| Increased level of threonine in cerebrospinal fluid (HP:0500212) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Increased circulating very long-chain fatty acid concentration (HP:0033643) | subClassOf (rdfs:subClassOf) | Abnormal circulating monocarboxylic acid concentration (HP:0010996) |
+| Increased level of heparan sulfate in blood (HP:0410342) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal cerebrospinal fluid histidine level (HP:0500235) | subClassOf (rdfs:subClassOf) | Abnormal cerebrospinal fluid aromatic amino acid level (HP:0500214) |
+| Increased level of sebacic acid in urine (HP:0500252) | subClassOf (rdfs:subClassOf) | Dicarboxylic aciduria (HP:0003215) |
+| Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) | subClassOf (rdfs:subClassOf) | Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109) |
+| Decreased level of glutamine in cerebrospinal fluid (HP:0500198) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Increased level of corticotropin in blood (HP:0003154) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased circulating androgen concentration (HP:0030348) | subClassOf (rdfs:subClassOf) | Abnormal circulating hormone concentration (HP:0003117) |
+| Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) | subClassOf (rdfs:subClassOf) | Abnormal circulating monocarboxylic acid concentration (HP:0010996) |
+| Increased level of cortisol in blood (HP:0003118) | subClassOf (rdfs:subClassOf) | Hyperketonemia (HP:0410175) |
+| Increased level of tyrosine in cerebrospinal fluid (HP:0500221) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Decreased level of threonine in cerebrospinal fluid (HP:0500213) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Decreased level of trans-4-hydroxy-L-proline in blood (HP:0500140) | subClassOf (rdfs:subClassOf) | Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109) |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating heparan sulfate level (HP:0410341) | subClassOf (rdfs:subClassOf) | Abnormal circulating nitrogen compound concentration (HP:0004364) |
+| Abnormal circulating tryptophan concentration (HP:0004365) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of UDP-glucose 4-epimerase in blood (HP:0410194) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal blood carbon dioxide level (HP:0500164) | subClassOf (rdfs:subClassOf) | Abnormal blood gas level in cord blood (HP:0410211) |
+| Increased level of 3-methylglutaric acid in urine (HP:0003344) | subClassOf (rdfs:subClassOf) | Dicarboxylic aciduria (HP:0003215) |
+| Increased level of glutamine in cerebrospinal fluid (HP:0500197) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Elevated urinary catecholamine level (HP:0011976) | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) |
+| Abnormal blood glucocorticoid level (HP:0012111) | subClassOf (rdfs:subClassOf) | Abnormal circulating lipid concentration (HP:0003119) |
+| Decreased level of carbon dioxide in umbilical cord blood (HP:0410215) | subClassOf (rdfs:subClassOf) | Decreased level of carbon dioxide in blood (HP:0012417) |
+| Increased level of glycine in cerebrospinal fluid (HP:0500230) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Abnormal circulating cysteine concentration (HP:0010918) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Abnormal serum bile acid concentration (HP:0030984) | subClassOf (rdfs:subClassOf) | Abnormal circulating lipid concentration (HP:0003119) |
+| Increased level of trans-4-hydroxy-L-proline in blood (HP:0003260) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Increased level of arginine in blood (HP:0500153) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Decreased level of adiponectin (human) in blood (HP:0030685) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormal circulating leucine concentration (HP:0004357) | subClassOf (rdfs:subClassOf) | Abnormal circulating carboxylic acid concentration (HP:0004354) |
+| Increased level of carnosine in blood (HP:0500161) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Abnormal circulating carnosine concentration (HP:0500160) | subClassOf (rdfs:subClassOf) | Abnormal circulating organic amino compound concentration (HP:0033405) |
+| Abnormality of lipoprotein cholesterol concentration (HP:0010979) | subClassOf (rdfs:subClassOf) | Abnormal circulating lipid concentration (HP:0003119) |
+| Elevated circulating porphyrin concentration (HP:0034606) | subClassOf (rdfs:subClassOf) | Abnormal circulating nitrogen compound concentration (HP:0004364) |
+| Decreased level of isoleucine in cerebrospinal fluid (HP:0500194) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Increased level of isoleucine in cerebrospinal fluid (HP:0500193) | subClassOf (rdfs:subClassOf) | Increased level of carboxylic acid in cerebrospinal fluid (HP:0500187) |
+| Mucopolysacchariduria (HP:0008155) | subClassOf (rdfs:subClassOf) | Abnormal urine metabolite level (HP:0033354) |
+| Decreased level of glutamic acid in cerebrospinal fluid (HP:0500201) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+| Decreased level of ammonia in blood (HP:0100493) | subClassOf (rdfs:subClassOf) | Abnormal blood gas level (HP:0012415) |
+| Elevated circulating porphyrin concentration (HP:0034606) | subClassOf (rdfs:subClassOf) | Increased level of nitrogen in blood (HP:0002157) |
+| Decreased level of dioxygen in blood (HP:0012418) | subClassOf (rdfs:subClassOf) | Abnormal blood dioxygen level (HP:0500259) |
+| Increased level of tyrosine in cerebrospinal fluid (HP:0500221) | subClassOf (rdfs:subClassOf) | Decreased CSF valine concentration (HP:0500188) |
+
+
+
+
+Text definitions added: 2
+
+| Term | New Text Definition |
+----|----|
+| Decreased level of albumin in cerebrospinal fluid (HP:0500239) | A decrease in the level of albumin in cerebrospinal fluid. |
+| Increased level of calcium in urine (HP:0002150) | An increase in the level of calcium in urine. |
+
+
+
+
+Relationships removed: 3
+
+| Subject| Predicate| Object|
+----|----|----|
+| Decreased level of carbon dioxide in umbilical cord blood (HP:0410215) | subClassOf (rdfs:subClassOf) | Abnormal blood carbon dioxide level (HP:0500258) |
+| Abnormal cerebrospinal fluid histidine level (HP:0500235) | subClassOf (rdfs:subClassOf) | Abnormal cerebrospinal fluid amino acid level (HP:0500184) |
+| Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0010679) | subClassOf (rdfs:subClassOf) | Increased level of alkaline phosphatase, tissue-nonspecific isozyme in blood (HP:0003155) |
+
+
+
diff --git a/src/patterns/dosdp-patterns-hpo/README.md b/src/patterns/dosdp-patterns-hpo/README.md
new file mode 100644
index 000000000..90ec635f3
--- /dev/null
+++ b/src/patterns/dosdp-patterns-hpo/README.md
@@ -0,0 +1,4 @@
+# Modified uPheno patterns for HPO
+
+These are some uPheno patterns which are slightly modified and reflect
+the preferences within HPO.
\ No newline at end of file
diff --git a/src/patterns/dosdp-patterns-hpo/abnormalLevelOfChemicalEntityInLocation.yaml b/src/patterns/dosdp-patterns-hpo/abnormalLevelOfChemicalEntityInLocation.yaml
new file mode 100644
index 000000000..6cfb0e94d
--- /dev/null
+++ b/src/patterns/dosdp-patterns-hpo/abnormalLevelOfChemicalEntityInLocation.yaml
@@ -0,0 +1,47 @@
+pattern_name: abnormalLevelOfChemicalEntityInLocation
+pattern_iri: http://purl.obolibrary.org/obo/upheno/patterns/abnormalLevelOfChemicalEntityInLocation.yaml
+description: "An abnormal level of a chemical in an anatomical entity, such as abnormal level of sodium in the blood."
+
+contributors:
+ - https://orcid.org/0000-0003-4606-0597
+ - https://orcid.org/0000-0002-9900-7880
+ - https://orcid.org/0000-0002-3528-5267
+ - https://orcid.org/0000-0001-5208-3432
+ - https://orcid.org/0000-0003-4148-4606
+ - https://orcid.org/0000-0001-7941-2961
+ - https://orcid.org/0000-0002-7356-1779
+ - https://orcid.org/0000-0001-9076-6015
+
+classes:
+ amount: PATO:0000070
+ abnormal: PATO:0000460
+ chemical entity: CHEBI:24431
+ independent continuant: BFO:0000004
+
+relations:
+ inheres_in: RO:0000052
+ has_modifier: RO:0002573
+ has_part: BFO:0000051
+ part_of: BFO:0000050
+
+vars:
+ chemical_entity: "'chemical entity'"
+ location: "'independent continuant'"
+
+name:
+ text: "Abnormal %s %s level"
+ vars:
+ - location
+ - chemical_entity
+
+def:
+ text: "An abnormal level of %s in the %s."
+ vars:
+ - chemical_entity
+ - location
+
+equivalentTo:
+ text: "'has_part' some ('amount' and ('inheres_in' some (%s and ('part_of' some %s))) and ('has_modifier' some 'abnormal'))"
+ vars:
+ - chemical_entity
+ - location
diff --git a/src/patterns/dosdp-patterns-hpo/abnormallyDecreasedLevelOfChemicalEntityInLocation.yaml b/src/patterns/dosdp-patterns-hpo/abnormallyDecreasedLevelOfChemicalEntityInLocation.yaml
new file mode 100644
index 000000000..2e65a9362
--- /dev/null
+++ b/src/patterns/dosdp-patterns-hpo/abnormallyDecreasedLevelOfChemicalEntityInLocation.yaml
@@ -0,0 +1,49 @@
+pattern_name: abnormallyDecreasedLevelOfChemicalEntityInLocation
+pattern_iri: http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyDecreasedLevelOfChemicalEntityInLocation.yaml
+description: ""
+
+contributors:
+ - https://orcid.org/0000-0003-4606-0597
+ - https://orcid.org/0000-0002-9900-7880
+ - https://orcid.org/0000-0001-9076-6015
+ - https://orcid.org/0000-0002-3528-5267
+ - https://orcid.org/0000-0001-5208-3432
+ - https://orcid.org/0000-0001-7941-2961
+ - https://orcid.org/0000-0003-4148-4606
+
+classes:
+ decreased amount: PATO:0001997
+ abnormal: PATO:0000460
+ chemical entity: CHEBI:24431
+ independent continuant: BFO:0000004
+
+relations:
+ inheres_in: RO:0000052
+ has_modifier: RO:0002573
+ has_part: BFO:0000051
+ part_of: BFO:0000050
+
+annotationProperties:
+ exact_synonym: oio:hasExactSynonym
+
+vars:
+ chemical_entity: "'chemical entity'"
+ location: "'independent continuant'"
+
+name:
+ text: "Decreased level of %s in %s"
+ vars:
+ - chemical_entity
+ - location
+
+def:
+ text: "A decrease in the level of %s in %s."
+ vars:
+ - chemical_entity
+ - location
+
+equivalentTo:
+ text: "'has_part' some ('decreased amount' and ('inheres_in' some (%s and ('part_of' some %s))) and ('has_modifier' some 'abnormal'))"
+ vars:
+ - chemical_entity
+ - location
diff --git a/src/patterns/dosdp-patterns-hpo/abnormallyIncreasedLevelOfChemicalEntityInLocation.yaml b/src/patterns/dosdp-patterns-hpo/abnormallyIncreasedLevelOfChemicalEntityInLocation.yaml
new file mode 100644
index 000000000..541905adc
--- /dev/null
+++ b/src/patterns/dosdp-patterns-hpo/abnormallyIncreasedLevelOfChemicalEntityInLocation.yaml
@@ -0,0 +1,48 @@
+pattern_name: abnormallyIncreasedLevelOfChemicalEntityInLocation
+pattern_iri: http://purl.obolibrary.org/obo/upheno/patterns-dev/abnormallyIncreasedLevelOfChemicalEntityInLocation.yaml
+description: "An abnormal increase of a chemical entity in a lcoation. Example 'Increased CSF lactate', i.e. increased lactate in cerebrospinal fluid (HP_0002490)."
+
+classes:
+ increased amount: PATO:0000470
+ abnormal: PATO:0000460
+ chemical entity: CHEBI:24431
+ independent continuant: BFO:0000004
+
+relations:
+ inheres_in: RO:0000052
+ has_modifier: RO:0002573
+ has_part: BFO:0000051
+ part_of: BFO:0000050
+
+annotationProperties:
+ exact_synonym: oio:hasExactSynonym
+
+vars:
+ chemical_entity: "'chemical entity'"
+ location: "'independent continuant'"
+name:
+ text: "Increased level of %s in %s"
+ vars:
+ - chemical_entity
+ - location
+
+def:
+ text: "An increase in the level of %s in %s."
+ vars:
+ - chemical_entity
+ - location
+
+annotations:
+- annotationProperty: exact_synonym
+ text: "increased level of %s in %s"
+ vars:
+ - chemical_entity
+ - location
+
+equivalentTo:
+ text: "'has_part' some ('increased amount' and ('inheres_in' some (%s and ('part_of' some %s))) and ('has_modifier' some 'abnormal'))"
+ vars:
+ - chemical_entity
+ - location
+contributors:
+- https://orcid.org/0000-0002-3528-5267
diff --git a/src/scripts/split_pattern_table.py b/src/scripts/split_pattern_table.py
new file mode 100644
index 000000000..012d07a25
--- /dev/null
+++ b/src/scripts/split_pattern_table.py
@@ -0,0 +1,33 @@
+import click
+import pandas as pd
+import os
+
+@click.command()
+@click.argument('input_tsv', type=click.Path(exists=True))
+@click.argument('output_dir', type=click.Path())
+def split_tsv_by_pattern(input_tsv, output_dir):
+ """
+ This script reads a TSV file and splits it into multiple TSV files based on the "pattern" column.
+
+ INPUT_TSV is the path to the input TSV file.
+ OUTPUT_DIR is the directory where the output TSV files will be saved.
+ """
+ # Read the input TSV file
+ df = pd.read_csv(input_tsv, sep='\t')
+
+ # Ensure the output directory exists
+ os.makedirs(output_dir, exist_ok=True)
+
+ # Check if the 'pattern' column exists
+ if 'pattern' not in df.columns:
+ click.echo("Error: The input TSV file does not contain a 'pattern' column.")
+ return
+
+ # Group the dataframe by the 'pattern' column and save each group to a separate TSV file
+ for pattern, group in df.groupby('pattern'):
+ output_file = os.path.join(output_dir, f"{pattern}.tsv")
+ group.drop(columns=['pattern']).to_csv(output_file, sep='\t', index=False)
+ click.echo(f"Saved {len(group)} records to {output_file}")
+
+if __name__ == '__main__':
+ split_tsv_by_pattern()
diff --git a/src/sparql/add-labels-as-synonyms.ru b/src/sparql/add-labels-as-synonyms.ru
new file mode 100644
index 000000000..fc5f1b5b4
--- /dev/null
+++ b/src/sparql/add-labels-as-synonyms.ru
@@ -0,0 +1,12 @@
+PREFIX rdfs:
+PREFIX oboInOwl:
+
+DELETE {
+ ?s rdfs:label ?label .
+}
+INSERT {
+ ?s oboInOwl:hasExactSynonym ?label .
+}
+WHERE {
+ ?s rdfs:label ?label .
+}
\ No newline at end of file
diff --git a/src/sparql/update-chemical-labels.ru b/src/sparql/update-chemical-labels.ru
new file mode 100644
index 000000000..07877a558
--- /dev/null
+++ b/src/sparql/update-chemical-labels.ru
@@ -0,0 +1,15 @@
+PREFIX rdfs:
+PREFIX IAO:
+
+DELETE {
+ ?s ?property ?oldLabel .
+}
+INSERT {
+ ?s ?property ?newLabel .
+}
+WHERE {
+ VALUES ?property { rdfs:label IAO:0000115 }
+ ?s ?property ?oldLabel .
+ BIND(REPLACE(REPLACE(STR(?oldLabel), " atom", ""), " molecular entity", "") AS ?newLabel)
+ FILTER(?oldLabel != ?newLabel)
+}
\ No newline at end of file