Details of Disease | DrugMAP

General Information of Disease (ID: DISQJU07)

Disease Name	Congenital stationary night blindness autosomal dominant 2
Synonyms	night blindness, congenital stationary, autosomal dominant 2; night blindness, congenital stationary, Rambusch type; congenital stationary night blindness autosomal dominant type 2; Rambusch type congenital stationary night blindness; congenital stationary night blindness caused by mutation in PDE6B; night blindness, congenital stationary, autosomal dominant type 2; CSNBAD2; PDE6B congenital stationary night blindness
Definition	Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene.
Disease Hierarchy	DISX0CWK: Congenital stationary night blindness DIS2BIP8: Congenital nervous system disorder DISQJU07: Congenital stationary night blindness autosomal dominant 2
Disease Identifiers	MONDO ID MONDO_0008099 MESH ID C566869 UMLS CUI C1876182 OMIM ID 163500 MedGen ID 361814

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE6B	OTOJMB1V	Strong	Autosomal dominant	[1]
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References

1	Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64.