| 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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proline oxidase deficiency
|
0009400 |
|
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1-pyrroline-5-carboxylate dehydrogenase deficiency
|
0009401 |
|
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delta1-pyrroline-5-carboxylate dehydrogenase deficiency
|
0009401 |
|
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vitamin C deficiency
|
0009412 |
|
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glycogen synthase deficiency
|
0009414 |
|
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mild ATP8B1 deficiency
|
0009469 |
|
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isovaleryl-CoA dehydrogenase deficiency
|
0009475 |
|
|
succinyl-CoA:3-oxoacid-CoA transferase deficiency
|
0009492 |
|
|
succinyl-Coa:3-ketoacid Coa-transferase deficiency
|
0009492 |
|
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AASA dehydrogenase deficiency
|
0009945 |
|
|
succinyl-Coa:acetoacetate transferase deficiency
|
0009492 |
|
|
beta galactocerebrosidase deficiency
|
0009499 |
|
|
galactosylceramide Beta-galactosidase deficiency
|
0009499 |
|
|
2-oxoglutarate complex deficiency
|
0009503 |
|
|
dihydrolipoyl dehydrogenase deficiency
|
0009503 |
|
