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
galactosyltransferase 1 deficiency 0007526
galactosyltransferase I deficiency 0007526
xylosylprotein 4-beta-galactosyltransferase deficiency 0007526
B4GALT7-CDG 0007526
EDSSPD1 0007526
PDS 0007526
XGPT deficiency 0007526
Pds, defective biosynthesis of 0007526
defective biosynthesis of proteodermatan sulfate 0007526
proteodermatan sulfate, defective biosynthesis of 0007526
Ehlers-Danlos syndrome progeroid type 0007526
Ehlers-Danlos syndrome, progeroid type 0007526
Ehlers-Danlos syndrome, progeroid type (former) 0007526
dermatan sulfate proteoglycan 0007526
spondylodysplastic Ehlers-Danlos syndrome 0007526