MONDO_label_synonym Find_IDs Find_Terms Annotation
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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
Label
Id
dihydropteridine reductase deficiency 0009862
HPABH4C 0009862
DHPR deficiency 0009862
Qdpr deficiency 0009862
6,7-dihydropteridine reductase activity disease 0009862
disorder of 6,7-dihydropteridine reductase activity 0009862
hyperphenylalaninemia, BH-4-deficient, C 0009862
hyperphenylalaninemia, BH4-deficient C 0009862
hyperphenylalaninemia, BH4-deficient, C 0009862
PKU type 2 0009862
phenylketonuria type 2 0009862
quinoid dihydropteridine reductase deficiency 0009862
hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to DHPR deficiency 0009862
hyperphenylalaninemia due to dihydropteridine reductase deficiency 0009862
hyperphenylalaninemia, Bh4-deficient, type C 0009862