Congenital Stationary Night Blindness 1D
Disease ID: disease_node_20046
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| Dbxref | MIM:613830 |
|---|---|
| Subclassof | DOID_0050534, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CSNB1D, congenital stationary night blindness 1D autosomal recessive |
| Doid Label | congenital stationary night blindness 1D |
| Doid Description | A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20046 |
| Doid Id | DOID_0110868 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Stationary Night Blindness 1D |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)