Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Dihydropteridine reductase deficiency
Synonyms	PKU type 2 Phenylketonuria type 2 Hyperphenylalaninemia due to dihydropteridine reductase deficiency
ID	http://www.limics.org/hrdo/rdfns#pat_id_457
ageOfDeath	Any age
ageOfOnset	Neonatal/infancy
altLabel	PKU type 2 Phenylketonuria type 2 Hyperphenylalaninemia due to dihydropteridine reductase deficiency
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dihydropteridine+reductase/df%5Bmajr%5D
id_MeSH	C537896
id_MIM	261630
id_OMS	E70.1
id_Orpha	226
id_SNOMEDCT	58256000
id_UMLS	C0268465 C2936906
inheritance	Autosomal recessive
patType	clinical subtype
prefixIRI	hrdo:pat_id_457
prefLabel	Dihydropteridine reductase deficiency
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_2

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009862	MONDO	LOOM
http://purl.jp/bio/4/id/200906081149206171	IOBC	LOOM
http://purl.obolibrary.org/obo/MONDO_0009862	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009862	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009862	DOVES	LOOM
http://purl.bioontology.org/ontology/RCD/X40Rf	RCD	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-A1150	SNMI	LOOM
http://www.orpha.net/ORDO/Orphanet_226	ORDO	LOOM
rgo:29968	GAMUTS	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/58256000	SNOMEDCT	LOOM