Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	DIHYDROPYRIMIDINASE
Synonyms	DIHYDROPYRIMIDINASE DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/613326
altLabel	DIHYDROPYRIMIDINASE DEFICIENCY 5,6-DIHYDROPYRIMIDINE AMIDOHYDROLASE DPYS DHP
cui	C1414144 C0342803
Gene Locus	8q22
Gene Symbol	DHP DPYS
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/613326.0006 http://purl.bioontology.org/ontology/OMIM/613326.0003 http://purl.bioontology.org/ontology/OMIM/613326.0001 http://purl.bioontology.org/ontology/OMIM/613326.0007 http://purl.bioontology.org/ontology/OMIM/613326.0005 http://purl.bioontology.org/ontology/OMIM/613326.0002 http://purl.bioontology.org/ontology/OMIM/613326.0004
MIMTYPEMEANING	Gene with known sequence
notation	613326
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	DIHYDROPYRIMIDINASE
tui	T047 T028

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C562815	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X40Up	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/238014002	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/238014002	SCTSPA	CUI
http://purl.obolibrary.org/obo/PR_000006679	OBA	LOOM
http://purl.obolibrary.org/obo/PR_000006679	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000006679	OBA	LOOM
http://purl.obolibrary.org/obo/PR_000006679	PR	LOOM
http://purl.obolibrary.org/obo/PR_000006679	NIFSTD	LOOM
http://purl.jp/bio/4/id/200906075056018260	IOBC	LOOM
http://purl.bioontology.org/ontology/SNMI/F-6B2C8	SNMI	LOOM
http://purl.bioontology.org/ontology/MESH/C020047	MESH	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15888	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_121174	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/70695005	SNOMEDCT	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C020047	RH-MESH	LOOM