| 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 |
|
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.
|
methylenetetrahydrofolate reductase deficiency
|
0009353 |
|
|
4-hydroxy-L-proline oxidase deficiency
|
0009374 |
|
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CPS 1 deficiency
|
0009376 |
|
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CPS I deficiency
|
0009376 |
|
|
carbamoyl-phosphate synthetase deficiency
|
0009376 |
|
|
N-acetylglutamate synthase deficiency
|
0009377 |
|
|
N-acetylglutamate synthetase deficiency
|
0009377 |
|
|
NAG synthetase deficiency
|
0009377 |
|
|
familial LPL deficiency
|
0009387 |
|
|
lipase D deficiency
|
0009387 |
|
|
lipoprotein lipase deficiency
|
0009387 |
|
|
L-lysine NAD-oxido-reductase deficiency
|
0009388 |
|
|
lysine:Alpha-ketoglutarate reductase deficiency
|
0009388 |
|
|
ornithine carrier deficiency
|
0009393 |
|
|
ornithine translocase deficiency
|
0009393 |
|
