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Metadata
ID DOID:0110863
Name congenital stationary night blindness autosomal dominant 2
Definition A congenital stationary night blindness characterized by autosomal dominant inhertance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16.
https://www.ncbi.nlm.nih.gov/pubmed/8075643
Xrefs

OMIM:163500

Synonyms

CSNBAD2 [EXACT]

Rambusch type congenital stationary night blindness [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a congenital stationary night blindness

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