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
Pechet factor deficiency 0008212
intrinsic factor deficiency 0008228
GM2 synthase deficiency 0012213
hydroxymethylbilane synthase deficiency 0008294
porphobilinogen deaminase deficiency 0008294
uroporphyrinogen synthase deficiency 0008294
uroporphyrinogen decarboxylase deficiency 0008296
protoporphyrinogen oxidase deficiency 0008297
heme synthetase deficiency 0008319
Proc cofactor deficiency 0008560
transcobalamin 1 deficiency 0008659
transcobalamin I deficiency 0008659
apolipoprotein B deficiency 0008692
acid phosphatase deficiency 0008705
inherited zinc deficiency 0008713