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Metadata
ID DOID:0110866
Name congenital stationary night blindness 1H
Definition A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13.
https://www.ncbi.nlm.nih.gov/pubmed/27063057
Xrefs

OMIM:617024

Synonyms

congenital stationary night blindness type 1H [EXACT]

CSNB1H [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital stationary night blindness

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