Ontology Browser

Term:
cerebral cavernous malformation 1 (DOID:0080491)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
cerebral cavernous malformation 1  
A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. (DO)
cerebral cavernous malformation 2  
cerebral cavernous malformation 3  
Familial Cerebral Cavernous Malformation  

Synonyms
Exact Synonyms: CCM1 ;   CEREBRAL CAPILLARY MALFORMATIONS CEREBRAL CAVERNOUS MALFORMATIONS 1 ;   CEREBRAL CAVERNOUS MALFORMATIONS 1
Primary IDs: OMIM:116860
Definition Sources: https://www.omim.org/entry/116860?search=116860&highlight=116860

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.