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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.
Mondo Term and Equivalent IDs
MONDO:0000820:  cerebral cavernous malformation
NCIT:C84626: