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macular dystrophy with central cone involvement
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An ocular disease characterized by decreased visual acuity, slight pigmentary changes and color vision abnormalities, becoming apparent in the third to sixth decade of life. Fundus anomalies are variable and include bull's eye maculopathy, severe atrophy of central fovea, relatively spared fovea with surrounding atrophic ring, central retinal pigment epithelium and/or choroid changes, pale or atrophic peripapillary area, pale optic disk, relatively spared periphery, and slightly or moderately attenuated vessels.
Mondo Term and Equivalent IDs
MONDO:0014515: macular dystrophy with central cone involvement
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616170
UMLS:C4015371
MONDO:0014515
High level summary of knowledge for a disease, including descriptions and datasource references.