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brittle cornea syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any brittle cornea syndrome in which the cause of the disease is a mutation in the PRDM5 gene.
Uniprot Description A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobile joints.
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.
OMIM:614170
UMLS:C3280011
MONDO:0013605
High level summary of knowledge for a disease, including descriptions and datasource references.