Metadata | |
---|---|
ID | DOID:0110864 |
Name | congenital stationary night blindness 1F |
Definition | A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. https://www.ncbi.nlm.nih.gov/pubmed/23246293 |
Xrefs | |
Synonyms |
congenital stationary night blindness 1F autosomal recessive [EXACT] CSNB1F [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 |