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
N-acetylglucosaminyltransferase 2 deficiency 0008908
CDG-IIa 0008908
CDG2A 0008908
CDGS2 0008908
MGAT2-CDG 0008908
Alkuraya syndrome 0008908
CDG 2A 0008908
CDG IIa 0008908
MGAT2-CDG (CDG-IIa) 0008908
intellectual disability, Growth retardation, prominent columella, and open mouth 0008908
mental retardation, Growth retardation, prominent columella, and open mouth 0008908
carbohydrate deficient glycoprotein syndrome type IIa 0008908
congenital disorder of glycosylation type 2a 0008908
congenital disorder of glycosylation type IIa 0008908
congenital disorder of glycosylation, type IIa 0008908