Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Disease ID: disease_node_16613
Connections displayed (default: 10).
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| Dbxref | MIM:212550 |
|---|---|
| Subclassof | DOID_10629, DOID_0050737 |
| Data Source | DOID |
| Doid Label | optic disc anomalies with retinal and/or macular dystrophy |
| Doid Description | A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16613 |
| Doid Id | DOID_0080635 |
| Label | Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Microphthalmos(ID:disease_node_5190) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)