Congenital Stationary Night Blindness 1C
Disease ID: disease_node_20047
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| Dbxref | MIM:613216 |
|---|---|
| Subclassof | DOID_0050534, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CSNB1C, congenital stationary night blindness 1C autosomal recessive |
| Doid Label | congenital stationary night blindness 1C |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20047 |
| Doid Id | DOID_0110867 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Stationary Night Blindness 1C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)