congenital stationary night blindness 1E

Term ID

DOID:0110869

Synonyms

• congenital stationary night blindness 1E autosomal recessive
• CSNB1E

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

References

• OMIM:614565

Ontology

Human Disease   ( DOID:0110869 )