Metadata | |
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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 | |
Synonyms |
congenital stationary night blindness 1E autosomal recessive [EXACT] CSNB1E [EXACT] |
Parent Relationships |