Search Ontology:
Human Disease
congenital stationary night blindness 1E
- Term ID
- DOID:0110869
- Synonyms
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- congenital stationary night blindness 1E autosomal recessive
- CSNB1E
- 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
- References
- Ontology
- Human Disease ( DOID:0110869 )
- is a type of
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