MONDO_label_synonym Find_IDs Find_Terms Annotation
manager
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
Label
Id
6-pyruvoyl-tetrahydropterin synthase deficiency 0009863
HPABH4A 0009863
PTS deficiency 0009863
BH4-deficient hyperphenylalaninemia A 0009863
hyperphenylalanemia, BH4-deficient, A 0009863
hyperphenylalaninemia, BH4-deficient A 0009863
hyperphenylalaninemia, BH4-deficient, A 0009863
hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency 0009863
tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency 0009863
hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency 0009863
PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included 0009863
6-pyruvoyl tetrahydropterin synthase deficiency 0009863
hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency 0009863
hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency 0009863
Bh4-deficient hyperphenylalaninemia type A 0009863