Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616389 http://purl.bioontology.org/ontology/OMIM/616389
Preferred Name	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
Synonyms	CSNB1G
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CSNB1G
prefLabel	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G
Gene Symbol	CSNB1G CSNBAD3 GNAT1
Scope Statement	Retinal degeneration may develop with age (based on a report of an affected octogenarian) [MISCELLANEOUS] Caused by mutation in the guanine nucleotide-binding protein, alpha-transducing activity polypeptide-1 gene (GNAT1, 139330.0003) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU060560 http://purl.bioontology.org/ontology/OMIM/MTHU050261 http://purl.bioontology.org/ontology/OMIM/MTHU050262 http://purl.bioontology.org/ontology/OMIM/MTHU034003 http://purl.bioontology.org/ontology/OMIM/MTHU050260 http://purl.bioontology.org/ontology/OMIM/MTHU028985 http://purl.bioontology.org/ontology/OMIM/MTHU036072 http://purl.bioontology.org/ontology/OMIM/MTHU050263 See more See less
tui	T047
Gene Locus	3p21
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616389
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4225345
OMIM Entry Type	3
OMIM MimType Value	pound

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