Systematized Nomenclature of Medicine, International Version

Last uploaded: January 31, 2024

Preferred Name	Dihydropteridine reductase deficiency
Synonyms	DHPR deficiency
ID	http://purl.bioontology.org/ontology/SNMI/D6-A1150
altLabel	DHPR deficiency Atypical phenylketonuria Phenylketonuria II Hyperphenylalaninemia, type IV Atypical PKU
Associated with	http://purl.bioontology.org/ontology/SNMI/M-27000 http://purl.bioontology.org/ontology/SNMI/F-66F60
cui	C0268465
notation	D6-A1150
prefLabel	Dihydropteridine reductase deficiency
SIC	270.1
SMX	(M-27000) (F-66F60)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/SNMI/D6-A1000

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/58256000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MSHFRE/D010661	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/261630	OMIM	CUI
http://purl.bioontology.org/ontology/RCD/X40Rf	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58256000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/612676	OMIM	CUI
http://purl.bioontology.org/ontology/MESH/D010661	MESH	CUI
http://purl.obolibrary.org/obo/MONDO_0009862	EFO	LOOM
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	DOVES	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_457	HRDO	LOOM
http://www.gamuts.net/entity#dihydropteridine_reductase_deficiency	GAMUTS	LOOM
http://purl.bioontology.org/ontology/RCD/X40Rf	RCD	LOOM
http://www.orpha.net/ORDO/Orphanet_226	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/58256000	SNOMEDCT	LOOM