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cataract 33
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 BFSP1 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. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus.
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:0110264
MESH:C566955
OMIM:611391
UMLS:C3808107
MONDO:0012665
High level summary of knowledge for a disease, including descriptions and datasource references.