| manager |
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| language |
- |
| license |
- |
| 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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3-Methylcrotonyl-Coa carboxylase deficiency
|
0008861 |
|
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MCC 1 deficiency
|
0008861 |
|
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Methylcrotonyl-Coa carboxylase deficiency
|
0008861 |
|
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MCC 2 deficiency
|
0008862 |
|
|
riboflavin transporter deficiency
|
0008891 |
|
|
severe ATP8B1 deficiency
|
0008892 |
|
|
phosphomannomutase 2 deficiency
|
0008907 |
|
|
N-acetylglucosaminyltransferase 2 deficiency
|
0008908 |
|
|
carboxypeptidase N deficiency
|
0008910 |
|
|
CARNITINE-acylcarnitine translocase deficiency
|
0008918 |
|
|
carnitine-acylcarnitine translocase deficiency
|
0008918 |
|
|
Carnitine uptake deficiency
|
0008919 |
|
|
carnitine transporter deficiency
|
0008919 |
|
|
primary carnitine deficiency
|
0008919 |
|
|
systemic Carnitine deficiency
|
0008919 |
|
