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
2-oxoglutarate complex deficiency 0009503
dihydrolipoyl dehydrogenase deficiency 0009503
lipoamide dehydrogenase deficiency 0009503
PDHXD 0009503
diaphorase deficiency 0009503
pyruvate dehydrogenase E3-binding PROTEIN deficiency 0009503
pyruvate dehydrogenase E3-binding protein deficiency 0009503
branched chain alpha-ketoacid dehydrogenase complex deficiency 0009503
pyruvate dehydrogenase complex component E3 deficiency 0009503
lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex 0009503
pyruvate dehydrogenase protein X component deficiency 0009503
Glycine cleavage system L protein deficiency 0009503