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cone-rod dystrophy and hearing loss
Disease Summary
Associated Targets (1)
Tbio
1
Uniprot Description An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Mondo Term and Equivalent IDs
MONDO:0014980: cone-rod dystrophy and hearing loss
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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.
EFO:0009151
OMIMPS:617236
UMLS:C4310657
MONDO:0014980
High level summary of knowledge for a disease, including descriptions and datasource references.