Congenital Stationary Night Blindness Autosomal Domit 2
Disease ID: disease_node_20042
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| Dbxref | MIM:163500 |
|---|---|
| Subclassof | DOID_0050534, DOID_0050736 |
| Data Source | DOID |
| Synonyms | CSNBAD2, Rambusch type congenital stationary night blindness |
| Doid Label | congenital stationary night blindness autosomal domit 2 |
| Doid Description | A congenital stationary night blindness characterized by autosomal domit inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20042 |
| Doid Id | DOID_0110863 |
| Disease Has Basis In | HP_0001197 |
| Label | Congenital Stationary Night Blindness Autosomal Domit 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)