Cardiomyopathy, dilated, 1s

Preferred Label : Cardiomyopathy, dilated, 1s;

Symbol : CMD1S;

CISMeF acronym : CMD1S; LVNC5;

Type : Phenotype, molecular basis known;

Included titles and symbols : Left ventricular noncompaction 5; LVNC5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, 160760.0022);

Prefixed ID : #613426;

Details

Origin ID

613426;

UMLS CUI

C1834481;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Left ventricular noncompaction [ORDO Disease]
- myosin heavy chain 7 [ORDO Gene]
- myosin heavy chain 7 [HGNC gene]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1s [MeSH concept]
- cardiomyopathy, dilated, 1s [MeSH Supplementary Concept]
- dilated cardiomyopathy 1S [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1S [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 7, cardiac muscle, beta [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Childhood onset [HPO term]
- Coarctation of aorta [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Ebstein anomaly of the tricuspid valve [HPO term]
- Infantile onset [HPO term]
- Interstitial cardiac fibrosis [HPO term]
- Juvenile onset [HPO term]
- Left ventricular noncompaction [HPO term]
- Mitral regurgitation [HPO term]
- Perimembranous ventricular septal defect [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary artery hypoplasia [HPO term]
- Reduced ejection fraction [HPO term]
- Single umbilical artery [HPO term]
- Sudden cardiac death [HPO term]
- Tricuspid regurgitation [HPO term]
- Ventricular arrhythmia [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Left ventricular noncompaction [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, dilated, 1s [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1s [MeSH concept]
- dilated cardiomyopathy 1S [DO Concept]

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