| 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 |
|
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 }
}
}
|
110,360 entries
|
There is 0 pattern entry.
|
sulfoiduronate sulfatase deficiency
|
0010674 |
|
|
ornithine carbamoyltransferase deficiency
|
0010703 |
|
|
ornithine transcarbamylase deficiency
|
0010703 |
|
|
pyruvate decarboxylase deficiency
|
0010717 |
|
|
benign COX deficiency
|
0010780 |
|
|
alkyldihydroxyacetonephosphate synthase deficiency
|
0010823 |
|
|
alkylglycerone-phosphate synthase deficiency
|
0010823 |
|
|
mannosyltransferase 6 deficiency
|
0010998 |
|
|
winged helix deficiency
|
0011132 |
|
|
PHOSPHOGLYCERATE dehydrogenase deficiency
|
0011152 |
|
|
severe ABCB11 deficiency
|
0011156 |
|
|
Mannosephosphate isomerase deficiency
|
0011257 |
|
|
phosphomannose isomerase deficiency
|
0011257 |
|
|
endplate acetylcholinesterase deficiency
|
0011281 |
|
|
12p-
|
0022174 |
|
