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Metadata
ID DOID:0110869
Name congenital stationary night blindness 1E
Definition A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12.
https://www.ncbi.nlm.nih.gov/pubmed/22325361
Xrefs

MIM:614565

Synonyms

congenital stationary night blindness 1E autosomal recessive [EXACT]

CSNB1E [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital stationary night blindness

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