Cardiomyopathy, familial hypertrophic, 10

Preferred Label : Cardiomyopathy, familial hypertrophic, 10;

Symbol : CMH10;

CISMeF acronym : CMH10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the slow cardiac regulatory light chain-2 myosin gene (MYL2, 160781.0001);

Prefixed ID : #608758;

Details

Origin ID

608758;

UMLS CUI

C1834460;

Automatic exact mappings (from CISMeF team)
- myosin light chain 2 [ORDO Gene]
- myosin light chain 2 [HGNC gene]
Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, familial hypertrophic, 10 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 10 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 10 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 10 [DO Concept]
Genes related to phenotype
- Myosin, light chain 2, regulatory, cardiac, slow [OMIM gene]
HPO term(s)
- Asymmetric septal hypertrophy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chest pain [HPO term]
- Dyspnea [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Left bundle branch block [HPO term]
- Left ventricular hypertrophy [HPO term]
- Palpitations [HPO term]
- Sudden cardiac death [HPO term]
- Supraventricular tachycardia [HPO term]
- Systolic anterior motion of the mitral valve [HPO term]
- T-wave inversion [HPO term]
- Ventricular fibrillation [HPO term]
- Ventricular septal hypertrophy [HPO term]
- Ventricular tachycardia [HPO term]
- Vertigo [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)
- cardiomyopathy, familial hypertrophic, 10 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 10 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients