MONDO_label_synonym Find_IDs Find_Terms Annotation
manager
language -
license -
created at 2021-12-20 14:06:07 UTC
updated at 2021-12-22 07:06:57 UTC
PREFIX owl: <http://www.w3.org/2002/07/owl#>
PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#>
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
PREFIX obo: <http://www.geneontology.org/formats/oboInOwl#>
SELECT DISTINCT ?label (SUBSTR(str(?sub),38) AS ?id) WHERE {
?sub rdfs:subClassOf+ <http://purl.obolibrary.org/obo/MONDO_0000001> ;
rdf:type owl:Class .
{ { ?sub rdfs:label ?label }
UNION { ?sub obo:hasBroadSynonym ?label }
UNION { ?sub obo:hasExactSynonym ?label }
UNION { ?sub obo:hasRelatedSynonym ?label }
}
}
110,360 entries
Label
Id
2-methylacyl-CoA racemase deficiency 0008967
Alpha-methyl-acyl-CoA racemase deficiency 0008967
BASD4 0008967
CBAS4 0008967
AMACR deficiency 0008967
congenital bile acid synthesis defect 4 0008967
congenital bile acid synthesis defect type 4 0008967
Trihydroxycoprostanic acid in bile 0008967
trihydroxycoprostanic acid in bile 0008967
liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome 0008967
bile acid synthesis defect, congenital, 4 0008967
bile acid synthesis defect, congenital, type 4 0008967
Trihydroxycoprostanic acid to cholic acid 0008967
BAS defect type 4 0008967
cholestasis, intrahepatic, with defective conversion of 0008967