Cardiomyopathy, dilated, 1r

Preferred Label : Cardiomyopathy, dilated, 1r;

Symbol : CMD1R;

CISMeF acronym : CMD1R; LVNC4;

Type : Phenotype, molecular basis known;

Included titles and symbols : Left ventricular noncompaction 4; LVNC4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the actin, alpha, cardiac muscle gene (ACTC1, 102540.0001);

Prefixed ID : #613424;

Details

Origin ID

613424;

UMLS CUI

C3150681;

Automatic exact mappings (from CISMeF team)
- ACTC1 wt Allele [NCIt concept]
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Left ventricular noncompaction [ORDO Disease]
- actin alpha cardiac muscle 1 [ORDO Gene]
- actin alpha cardiac muscle 1 [HGNC gene]
Currated CISMeF NLP mapping
- dilated cardiomyopathy 1R [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1R [DO Concept]
Genes related to phenotype
- Actin, alpha, cardiac muscle [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular noncompaction [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Ventricular arrhythmia [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)
- dilated cardiomyopathy 1R [DO Concept]

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