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cone-rod dystrophy 11
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 RAX2 gene.
Uniprot Description 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.
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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111018
MESH:C563671
OMIM:610381
UMLS:C1835865
MONDO:0012483
High level summary of knowledge for a disease, including descriptions and datasource references.