Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction

Preferred Label : Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction;

Symbol : CMD1C;

CISMeF acronym : CMD1C; CMH24; LVNC3;

Type : Phenotype, molecular basis known;

Included titles and symbols : Left ventricular noncompaction 3; Cardiomyopathy, familial hypertrophic, 24; LVNC3; CMH24;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the LIM domain binding 3 gene (LDB3, 605906.0005);

Prefixed ID : #601493;

Details

Origin ID

601493;

UMLS CUI

C1832244;

Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Dilated Cardiomyopathy-1C [NCIt concept]
- cardiomyopathy, dilated, 1C [MeSH concept]
- cardiomyopathy, dilated, 1C [MeSH Supplementary Concept]
- dilated cardiomyopathy 1C [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1C [DO Concept]
Genes related to phenotype
- Lim domain-binding 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Endocardial fibrosis [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular noncompaction [HPO term]
- Sudden cardiac death [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-1C [NCIt concept]
- cardiomyopathy, dilated, 1C [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1C [MeSH concept]
- dilated cardiomyopathy 1C [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients