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
aldolase a deficiency 0012747
Man5GlcNAc2-PP-Dol flippase deficiency 0012783
primary CD59 deficiency 0012858
Hcf 2 deficiency 0012876
Rosenthal factor deficiency 0012897
factor 11 deficiency 0012897
factor XI deficiency 0012897
Fletcher Factor deficiency 0012901
congenital prekallikrein deficiency 0012901
hereditary prekallikrein deficiency 0012901
inherited prekallikrein deficiency 0012901
sepiapterin reductase deficiency 0012994
heparan-alpha-glucosaminide N-acetyltransferase deficiency 0009657
N-acetylglucosamine-6-sulfate sulfatase deficiency 0009658
glucosamine N-acetyl-6-sulfatase deficiency 0009658