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cerebral cavernous malformation
Disease Summary
Associated Targets (3)
Tbio
3
Mondo Description A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.
Disease Ontology Description A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support.
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 Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060669
NCIT:C84626
MONDO:0000820
High level summary of knowledge for a disease, including descriptions and datasource references.