Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	QUINOID DIHYDROPTERIDINE REDUCTASE
Synonyms	QDPR
ID	http://purl.bioontology.org/ontology/OMIM/612676
altLabel	QDPR DHPR HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C DIHYDROPTERIDINE REDUCTASE
cui	C1419182 C0268465
Gene Locus	4p15.31
Gene Symbol	QDPR DHPR
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/612676.0004 http://purl.bioontology.org/ontology/OMIM/612676.0001 http://purl.bioontology.org/ontology/OMIM/612676.0006 http://purl.bioontology.org/ontology/OMIM/612676.0003 http://purl.bioontology.org/ontology/OMIM/612676.0002 http://purl.bioontology.org/ontology/OMIM/612676.0005 http://purl.bioontology.org/ontology/OMIM/612676.0007
MIMTYPEMEANING	Gene with known sequence
notation	612676
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	QUINOID DIHYDROPTERIDINE REDUCTASE
tui	T047 T028

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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/RCD/X40Rf	RCD	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/MESH/D010661	MESH	CUI
http://www.limics.org/hrdo/rdfns#gen_id_15178	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_118184	ORDO	LOOM