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
phosphorylase deficiency glycogen-storage disease of liver 0009294
hepatophosphorylase deficiency glycogenosis 0009294
PYGL glycogen storage disease 0009294
GSD due to liver glycogen phosphorylase deficiency 0009294
glycogenosis due to liver glycogen phosphorylase deficiency 0009294
hepatic glycogen phosphorylase deficiency 0009294
liver glycogen phosphorylase deficiency 0009294