Cardiomyopathy, dilated, 1y

Preferred Label : Cardiomyopathy, dilated, 1y;

Symbol : CMD1Y;

CISMeF acronym : CMD1Y; LVNC9;

Type : Phenotype, molecular basis known;

Included titles and symbols : Left ventricular noncompaction 9; LVNC9;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gene encoding tropomyosin-1 (TPM1, 191010.0004);

Prefixed ID : #611878;

Details

Origin ID

611878;

UMLS CUI

C2678476;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- TPM1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1y [MeSH concept]
- cardiomyopathy, dilated, 1y [MeSH Supplementary Concept]
- dilated cardiomyopathy 1Y [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1Y [DO Concept]
Genes related to phenotype
- Tropomyosin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Mitral regurgitation [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, 1y [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1y [MeSH concept]
- dilated cardiomyopathy 1Y [DO Concept]

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