You are using an outdated browser. Please upgrade your browser to improve your experience.
keratoconus 1
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any keratoconus in which the cause of the disease is a mutation in the VSX1 gene.
Uniprot Description Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.
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.
MESH:C563649
OMIM:148300
UMLS:C1835677
MONDO:0007851
High level summary of knowledge for a disease, including descriptions and datasource references.