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
dihydrolipoamide dehydrogenase deficiency 0009563
Ketoacidaemia 0009563
MSUD 0009563
BCKD deficiency 0009563
BCKDH deficiency 0009563
branched-chain ketoaciduria 0009563
Keto acid decarboxylase deficiency 0009563
branched-chain Alpha-Keto acid dehydrogenase deficiency 0009563
maple syrup urine disease 0009563
maple syrup urine disease, Intermediate 0009563
maple syrup urine disease, classic 0009563
maple syrup urine disease, intermittent 0009563
maple syrup urine disease, thiamine-responsive 0009563
branched-chain 2-ketoacid dehydrogenase deficiency 0009563
branched chain ketoaciduria 0009563