You are using an outdated browser. Please upgrade your browser to improve your experience.
cataract 45
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene.
Uniprot Description An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Disease Ontology Description A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13.
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:0110262
OMIM:616851
UMLS:C4225182
MONDO:0014799
High level summary of knowledge for a disease, including descriptions and datasource references.