| manager |
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| language |
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| license |
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| created at |
2021-12-20 14:06:07 UTC |
| updated at |
2021-12-22 07:06:57 UTC |
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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 }
}
}
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110,360 entries
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There is 0 pattern entry.
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cobalamin C deficiency
|
0010184 |
|
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cobalamin D deficiency
|
0010185 |
|
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xanthine dehydrogenase deficiency
|
0010209 |
|
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xanthine oxidase deficiency
|
0010209 |
|
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xanthine oxidoreductase deficiency
|
0010209 |
|
|
HPRT complete deficiency
|
0010298 |
|
|
HPRT partial deficiency
|
0010299 |
|
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HPRT1 partial deficiency
|
0010299 |
|
|
X-linked creatine deficiency
|
0010305 |
|
|
creatine transporter deficiency
|
0010305 |
|
|
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
|
0010327 |
|
|
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
|
0010327 |
|
|
monocarboxylate transporter-8 deficiency
|
0010354 |
|
|
Phosphoglycerate kinase deficiency
|
0010392 |
|
|
N acetyltransferase deficiency
|
0010457 |
|
