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cerebral cavernous malformation 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene.
Uniprot Description A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.
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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:0060670
MESH:C566394
OMIM:603284
UMLS:C1864041
MONDO:0011304
High level summary of knowledge for a disease, including descriptions and datasource references.