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
2M3HBA 0010327
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 0010327
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency 0010327
HSD10MD 0010327
MRXS10 0010327
2-methyl-3-hydroxybutyric aciduria 0010327
3H2MBD deficiency 0010327
HSD10 deficiency 0010327
HSD17B10 deficiency 0010327
MHBD deficiency 0010327
17-beta-hydroxysteroid dehydrogenase 10 deficiency 0010327
3-hydroxyacyl-CoA dehydrogenase 2 deficiency 0010327
hydroxyacyl-CoA dehydrogenase II deficiency 0010327
17-beta-hydroxysteroid dehydrogenase X deficiency 0010327
mental retardation, X-linked syndromic 10 0010327