Leber Congenital Amaurosis 1
Disease ID: disease_node_19113
Connections displayed (default: 10).
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| Dbxref | ICD10CM:H35.5, MIM:204000 |
|---|---|
| Subclassof | DOID_0050737, DOID_14791 |
| Data Source | DOID |
| Synonyms | LCA1, amaurosis congenita of Leber I |
| Doid Label | Leber congenital amaurosis 1 |
| Doid Description | A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19113 |
| Doid Id | DOID_0110078 |
| Disease Has Basis In | HP_0001197 |
| Label | Leber Congenital Amaurosis 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Leber Congenital Amaurosis(ID:disease_node_12393) (Disease)