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
methemoglobin reductase deficiency 0009604
NADH diaphorase deficiency 0009606
MAT I/III deficiency 0009607
Mat I/III deficiency 0009607
methionine adenosyltransferase deficiency 0009607
methionine synthase deficiency 0009609
3-methylglutaconyl-CoA hydratase deficiency 0009610
3-methylglutaconyl-Coa hydratase deficiency 0009610
3MG-CoA hydratase deficiency 0009610
methylmalonyl-CoA mutase deficiency 0009612
methylmalonyl-CoA epimerase deficiency 0009615
methylmalonyl-Coa racemase deficiency 0009615
N-acetylglucosamine 1-phosphotransferase deficiency 0009650
N-acetylglucosamine 1phosphotransferase deficiency 0009650
ganglioside neuraminidase deficiency 0009653