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
hydroxymethylbilane synthase deficiency 0008294
porphobilinogen deaminase deficiency 0008294
uroporphyrinogen synthase deficiency 0008294
AIP 0008294
pyrroloporphyria 0008294
HMBS deficiency 0008294
PBGD deficiency 0008294
UPS deficiency 0008294
porphyria, Chester type 0008294
porphyria, Swedish type 0008294
porphyria, acute intermittent 0008294
porphyria, acute intermittent, Nonerythroid variant 0008294
porphyria intermittent acute 0008294
AIP - acute intermittent porphyria 0008294
acute intermittent porphyria 0008294