Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	HYPOASCORBEMIA
Synonyms	GULO, NONFUNCTIONAL
ID	http://purl.bioontology.org/ontology/OMIM/240400
altLabel	GULO, NONFUNCTIONAL SCURVY GULOP L-GULONOLACTONE OXIDASE, NONFUNCTIONAL VITAMIN C, INABILITY TO SYNTHESIZE L-GULONOLACTONE OXIDASE PSEUDOGENE
cui	C5574898 C0036474 C1855867
Gene Locus	8p21.1
Gene Symbol	GULOP GULO
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048970 http://purl.bioontology.org/ontology/OMIM/MTHU048971
MIMTYPEMEANING	Other, mainly phenotypes with suspected mendelian basis
notation	240400
OMIM Entry Type	0
OMIM MimType Value	none
prefLabel	HYPOASCORBEMIA
Scope Statement	Homo sapiens do not have a functional L-gulonolactone oxidase gene [MISCELLANEOUS]
tui	T047 T033

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRGER/10039768	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/C565486	MESH	CUI
http://purl.bioontology.org/ontology/RCD/X40YI	RCD	CUI
http://purl.bioontology.org/ontology/ICD10CM/E54	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNMI/D6-C2000	SNMI	CUI
http://purl.bioontology.org/ontology/MESH/D012614	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D012614	MSHFRE	CUI
http://purl.bioontology.org/ontology/CSP/2116-7533	CRISP	CUI
http://purl.bioontology.org/ontology/MDRFRE/10039768	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICPC2P/T91011	ICPC2P	CUI
http://purl.bioontology.org/ontology/SCTSPA/76169001	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/76169001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10039768	MEDDRA	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002708	NDFRT	CUI