Cerebral cavernous malformations 4

Preferred Label : Cerebral cavernous malformations 4;

Symbol : CCM4;

Type : Phenotype, molecular basis known;

Prefixed ID : #619538;

Details

Origin ID

619538;

UMLS CUI

C5561991;

Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, alpha [OMIM gene]
HPO term(s)
- Autosomal dominant germline de novo mutation [HPO term]
- Cerebral cavernous malformation [HPO term]
ORDO concept(s)
- Familial cerebral cavernous malformation [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]

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