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
steroid 5-alpha-reductase deficiency 0009923
1 Alpha-hydroxylase deficiency 0009924
glutathione synthetase deficiency 0009947
pyruvate carboxylase deficiency 0009949
pyruvate kinase deficiency 0009950
phytanic-CoA hydroxylase deficiency 0009958
saccharopine dehydrogenase deficiency 0010005
total hexosaminidase deficiency 0010006
secretory component deficiency 0010019
zeta-associated-protein 70 deficiency 0010023
7-dehydrocholesterol reductase deficiency 0010035
aminoacylase 2 deficiency 0010079
multiple sulfatase deficiency 0010088
sulfite oxidase deficiency 0010089
Tatsumi factor deficiency 0010097