congenital stationary night blindness 1G

Term ID

DOID:0110714

Synonyms

• congenital stationary night blindness type 1G
• CSNB1G

Definition

A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/22190596

References

• OMIM:616389

Ontology

Human Disease   ( DOID:0110714 )