Metadata | |
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ID | DOID:0110867 |
Name | congenital stationary night blindness 1C |
Definition | A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. https://www.ncbi.nlm.nih.gov/pubmed/19878917 |
Xrefs | |
Synonyms |
congenital stationary night blindness 1C autosomal recessive [EXACT] CSNB1C [EXACT] |
Parent Relationships |