Cerebral cavernous malformations 2

Preferred Label : Cerebral cavernous malformations 2;

Symbol : CCM2;

CISMeF acronym : CCM2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the CCM2 gene (CCM2, 607929.0001);

Prefixed ID : #603284;

Détails

Origin ID

603284;

UMLS CUI

C1864041;

Broader ORDO disease(s)
- Cerebral cavernous malformations [ORDO Disease]
CISMeF manual mappings
- cerebral cavernous malformation type 2 [Disease (Nov.)]
Currated CISMeF NLP mapping
- cerebral cavernous malformation 2 [DO Concept]
- cerebral cavernous malformations 2 [MeSH concept]
- cerebral cavernous malformations 2 [MeSH Supplementary Concept]
DO Cross reference
- cerebral cavernous malformation 2 [DO Concept]
Genes related to phenotype
- Ccm2 scaffold protein [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral cavernous malformation [HPO term]
- Cerebral hemorrhage [HPO term]
- Headache [HPO term]
- Seizure [HPO term]
- Stroke [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- Familial cerebral cavernous malformation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CCM2 scaffold protein [ORDO Gene]
- cerebral cavernous malformation 2 [DO Concept]
- cerebral cavernous malformation type 2 [Disease (Nov.)]
- cerebral cavernous malformations 2 [MeSH Supplementary Concept]
- cerebral cavernous malformations 2 [MeSH concept]

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