You are using an outdated browser. Please upgrade your browser to improve your experience.
This repository is under review for potential modification in compliance with Administration directives.
pulverulent cataract
Disease Summary
Associated Targets (9)
Tbio
9
Mondo Description A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.
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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
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:0110235
MESH:C565133
OMIM:604307
Orphanet:98984
UMLS:C1833118
UMLS:C1852438
UMLS:CN207240
MONDO:0011430
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.