| 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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steroid 18-hydroxylase deficiency
|
0008751 |
|
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homogentisate 1,2-dioxygenase deficiency
|
0008753 |
|
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2-ketoglutarate dehydrogenase deficiency
|
0008759 |
|
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ALPHA-ketoglutarate dehydrogenase deficiency
|
0008759 |
|
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Alpha KGD deficiency
|
0008759 |
|
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Alpha-ketoglutarate dehydrogenase deficiency
|
0008759 |
|
|
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
|
0008760 |
|
|
Beta ketothiolase deficiency
|
0008760 |
|
|
peroxisomal thiolase deficiency
|
0008760 |
|
|
familial alpha-lipoprotein deficiency
|
0008783 |
|
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apolipoprotein C-II deficiency
|
0008810 |
|
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familial apoC-II deficiency
|
0008810 |
|
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arginino succinase deficiency
|
0008815 |
|
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argininosuccinate lyase deficiency
|
0008815 |
|
|
Aspartylglucosamidase (AGA) deficiency
|
0008830 |
|
