| 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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hepatic fructokinase deficiency
|
0009252 |
|
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alpha fucosidase deficiency
|
0009254 |
|
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hereditary galactokinase deficiency
|
0009255 |
|
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galactose epimerase deficiency
|
0009257 |
|
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galactose-1-phosphate uridyltransferase deficiency
|
0009258 |
|
|
galactose-1-phosphate uridylyltransferase deficiency
|
0009258 |
|
|
gamma-glutamylcysteine synthetase deficiency
|
0009259 |
|
|
glutamate-cysteine ligase deficiency
|
0009259 |
|
|
acid Beta-glucosidase deficiency
|
0009265 |
|
|
3-hydroxyacyl-CoA dehydrogenase deficiency
|
0009278 |
|
|
3-hydroxylacyl-CoA dehydrogenase deficiency
|
0009278 |
|
|
glutaryl-CoA dehydrogenase deficiency
|
0009281 |
|
|
glutaryl-CoA oxidase deficiency
|
0009283 |
|
|
glutaryl-Coa oxidase deficiency
|
0009283 |
|
|
gamma-glutamyl transpeptidase deficiency
|
0009285 |
|
