Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/310500 http://purl.bioontology.org/ontology/OMIM/310500
Preferred Name	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
Synonyms	NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA CSNB1A CSNB, COMPLETE, X-LINKED HEMERALOPIA-MYOPIA NYCTALOPIA MYOPIA-NIGHT BLINDNESS NBM1
Type	http://www.w3.org/2002/07/owl#Class

altLabel	NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA CSNB1A CSNB, COMPLETE, X-LINKED HEMERALOPIA-MYOPIA NYCTALOPIA MYOPIA-NIGHT BLINDNESS NBM1 See more See less
prefLabel	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
Gene Symbol	CSNB1A NBM1 NYX
Scope Statement	Caused by mutation in the nyctalopin gene (NYX, 300278.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU038320 http://purl.bioontology.org/ontology/OMIM/MTHU038322 http://purl.bioontology.org/ontology/OMIM/MTHU002187 http://purl.bioontology.org/ontology/OMIM/MTHU038321
tui	T047
Gene Locus	Xp11.4
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	310500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C3495587 C0028077
OMIM Entry Type	3
OMIM MimType Value	pound

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