MONDO_label_synonym Find_IDs Find_Terms Annotation
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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
myopathic carnitine deficiency 0008920
sterol 27-hydroxylase deficiency 0008948
2-methylacyl-CoA racemase deficiency 0008967
Alpha-methyl-acyl-CoA racemase deficiency 0008967
AD13 0012630
argininosuccinate synthase deficiency 0008988
argininosuccinate synthetase deficiency 0008988
C2 complement deficiency 0009006
cortisol 11-Beta-ketoreductase deficiency 0009025
cortisol 11-beta-ketoreductase deficiency 0009025
Complex IV deficiency 0009068
cytochrome-C oxidase deficiency 0009068
isolated COX deficiency 0009068
D-glycerate kinase deficiency 0009070
glycerate kinase deficiency 0009070