Sorsby's fundus dystrophy
Information
- Disease name
- Sorsby's fundus dystrophy
- Disease ID
- DOID:0090114
- 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 dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12." [url:https\://www.ncbi.nlm.nih.gov/pubmed/26077580, url:https\://www.ncbi.nlm.nih.gov/pubmed/26239453, url:https\://www.omim.org/entry/136900]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:8500
- Cross Reference ID (Disease Ontology)
- MIM:136900
- Exact Synonym (Disease Ontology)
- hemorrhagic macular dystrophy
- Exact Synonym (Disease Ontology)
- pseudoinflammatory fundus dystrophy of Sorsby
- Exact Synonym (Disease Ontology)
- SFD