Optic Atrophy 1
Disease ID: disease_node_17290
Connections displayed (default: 10).
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| Dbxref | MIM:165500 |
|---|---|
| Subclassof | DOID_0050736, DOID_5723 |
| Data Source | DOID |
| Synonyms | OPA1 |
| Doid Label | optic atrophy 1 |
| Doid Description | An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17290 |
| Doid Id | DOID_0111441 |
| Label | Optic Atrophy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Optic Atrophy(ID:disease_node_5715) (Disease)