Cardiomyopathy, familial hypertrophic, 12

Preferred Label : Cardiomyopathy, familial hypertrophic, 12;

Symbol : CMH12;

CISMeF acronym : CMH12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cysteine- and glycine-rich protein 3 gene (CSRP3, 600824.0002);

Prefixed ID : #612124;

Détails

Origin ID

612124;

UMLS CUI

C2677491;

Currated CISMeF NLP mapping
- hypertrophic cardiomyopathy 12 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 12 [DO Concept]
Genes related to phenotype
- Cysteine- and glycine-rich protein 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Paroxysmal atrial fibrillation [HPO term]
- Sudden cardiac death [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypertrophic cardiomyopathy 12 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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