Sorsby'S Fundus Dystrophy
Disease ID: disease_node_20035
Connections displayed (default: 10).
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| Dbxref | MIM:136900 |
|---|---|
| Subclassof | DOID_0050736, DOID_8500 |
| Data Source | DOID |
| Synonyms | SFD, hemorrhagic macular dystrophy, pseudoinflammatory fundus dystrophy of Sorsby |
| Doid Label | Sorsby's fundus dystrophy |
| Doid Description | A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal domit inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20035 |
| Doid Id | DOID_0090114 |
| Label | Sorsby'S Fundus Dystrophy |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Hereditary Retinal Dystrophy(ID:disease_node_20030) (Disease)