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
total hexosaminidase deficiency 0010006
Beta-hexosaminidase-beta-subunit deficiency 0010006
Sandhoff disease 0010006
Sandhoff-Jatzkewitz-Pilz disease 0010006
GM2 gangliosidosis 0 variant 0010006
GM2 gangliosidosis, 0 variant 0010006
GM2-gangliosidosis, type 2 0010006
Hexosaminidases A and B deficiency 0010006
Hexosaminidases a and B deficiency 0010006
hexosaminidase A and B deficiency disease 0010006
Sandhoff disease, juvenile type 0010006
Sandhoff disease, adult type 0010006
Sandhoff Jatzkewitz disease 0010006
Sandhoff disease, infantile type 0010006
GM2 gangliosidosis, type 2 0010006