| 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 | |
| Synonyms |
congenital stationary night blindness type 1H [EXACT] CSNB1H [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |