congenital stationary night blindness 1H
Information
- Disease name
- congenital stationary night blindness 1H
- Disease ID
- DOID:0110866
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/27063057]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050534
- Cross Reference ID (Disease Ontology)
- MIM:617024
- Exact Synonym (Disease Ontology)
- congenital stationary night blindness type 1H
- Exact Synonym (Disease Ontology)
- CSNB1H