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
xylosylprotein 4-beta-galactosyltransferase deficiency 0007526
mannosyltransferase 1 deficiency 0012052
ribose-5-P isomerase deficiency 0012073
alpha-lecithin:cholesterol acyltransferase deficiency 0007620
partial LCAT deficiency 0007620
flood factor deficiency 0007622
Dopa decarboxylase deficiency 0012084
platelet alpha-granule deficiency 0007686
mannosyltransferase 7-9 deficiency 0012117
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 0007700
PDH phosphatase deficiency 0012120
familial CD8 deficiency 0012161
trifunctional Protein deficiency 0012172
phosphodiester glycoside deficiency 0007945
Dynia factor deficiency 0008212