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cone-rod dystrophy 20
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.
Uniprot Description A form of cone-rod dystrophy, an inherited retinal dystrophy 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.
Disease Ontology Description A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.
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 Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111026
OMIM:615973
UMLS:C4014856
MONDO:0014427
High level summary of knowledge for a disease, including descriptions and datasource references.