Read Codes, Clinical Terms Version 3 (CTV3)

Last uploaded: January 31, 2024

Preferred Name	Dihydropteridine reductase deficiency
Synonyms	DHPR - Dihydropteridine reductase deficiency
ID	http://purl.bioontology.org/ontology/RCD/X40Rf
altLabel	DHPR - Dihydropteridine reductase deficiency Atypical phenylketonuria
cui	C0268465
notation	X40Rf
prefLabel	Dihydropteridine reductase deficiency
RID	Y41hc Y41hd Y41hb
tui	T047
subClassOf	http://purl.bioontology.org/ontology/RCD/X40Re

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/SNMI/D6-A1150	SNMI	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/SNMI/D6-A1150	SNMI	LOOM
http://www.orpha.net/ORDO/Orphanet_226	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/58256000	SNOMEDCT	LOOM