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helicoid peripapillary chorioretinal degeneration
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
Uniprot Description Characterized by symmetrical lesions radiating from the optic disk involving the retina and the choroid.
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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 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:0111228
MESH:C566236
OMIM:108985
Orphanet:86813
SCTID:724384008
UMLS:C1862382
MONDO:0007176
High level summary of knowledge for a disease, including descriptions and datasource references.