| manager |
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| language |
- |
| 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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HPRT complete deficiency
|
0010298 |
|
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LNS
|
0010298 |
|
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HG-PRT deficiency
|
0010298 |
|
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HPRT deficiency
|
0010298 |
|
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Hprt1 deficiency
|
0010298 |
|
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Lesch-Nyhan syndrome
|
0010298 |
|
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X-linked hyperuricemia
|
0010298 |
|
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hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])
|
0010298 |
|
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X-linked hyperuricemia (disorder) [ambiguous]
|
0010298 |
|
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deficiency of IMP pyrophosphorylase
|
0010298 |
|
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Lesch - Nyhan syndrome
|
0010298 |
|
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HPRT deficiency, complete
|
0010298 |
|
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Lesch Nyhan disease
|
0010298 |
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HPRT deficiency grade IV
|
0010298 |
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HPRT deficiency, neurologic variant
|
0010298 |
|
