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
ganglioside sialidase deficiency 0009653
heparan sulfamidase deficiency 0009655
heparane sulfamidase deficiency 0009655
adult-onset Alpha-N-acetylgalactosaminidase deficiency 0012222
acquired immune deficiency 0012268
C5 complement deficiency 0012295
factor H deficiency 0012350
aminoacylase 1 deficiency 0012368
2-methylbutyryl-CoA dehydrogenase deficiency 0012392
butyryl-CoA dehydrogenase deficiency 0012392
congenital glutamine deficiency 0012393
acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency 0009657
inherited GS deficiency 0012393
pyridoxamine 5'-oxidase deficiency 0012407
pyridoxine-5'-phosphate oxidase deficiency 0012407