Cardiomyopathy, familial hypertrophic, 4

Preferred Label : Cardiomyopathy, familial hypertrophic, 4;

Symbol : CMH4;

CISMeF acronym : CMH4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cardiomyopathy, familial hypertrophic, 4, susceptibility to;

Inheritance : Autosomal dominant (incomplete penetrance); Autosomal recessive;

Molecular basis : Caused by mutation in the myosin-binding protein C gene (MYBPC3, 600958.0001);

Prefixed ID : #115197;

Details

Origin ID

115197;

UMLS CUI

C1861862;

Automatic exact mappings (from CISMeF team)
- MYBPC3 wt Allele [NCIt concept]
- symbol withdrawn CMH4 [HGNC gene]
Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 4 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 4 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 4 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 4 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 4 [DO Concept]
Genes related to phenotype
- Myosin-binding protein C, cardiac [OMIM gene]
HPO term(s)
- Ascites [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiac arrest [HPO term]
- Cardiomegaly [HPO term]
- Chest pain [HPO term]
- Dyspnea [HPO term]
- Hepatomegaly [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Left bundle branch block [HPO term]
- Myopathy [HPO term]
- Pericardial effusion [HPO term]
- Pulmonary edema [HPO term]
- Right bundle branch block [HPO term]
- Stroke [HPO term]
- Syncope [HPO term]
- Transient ischemic attack [HPO term]
- Ventricular fibrillation [HPO term]
- Ventricular hypertrophy [HPO term]
- Ventricular septal hypertrophy [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)
- Familial Hypertrophic Cardiomyopathy Type 4 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 4 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 4 [MeSH concept]

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