Optic Atrophy 9
Disease ID: disease_node_17289
Connections displayed (default: 10).
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| Dbxref | MIM:616289 |
|---|---|
| Subclassof | DOID_5723, DOID_0050737 |
| Data Source | DOID |
| Synonyms | OPA9 |
| Doid Label | optic atrophy 9 |
| Doid Description | An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17289 |
| Doid Id | DOID_0111442 |
| Label | Optic Atrophy 9 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Optic Atrophy(ID:disease_node_5715) (Disease)