Left ventricular noncompaction 8

Preferred Label : Left ventricular noncompaction 8;

Symbol : LVNC8;

CISMeF acronym : CMD1LL; LVNC8;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cardiomyopathy, dilated, 1ll; CMD1LL;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the PR domain-containing protein-16 gene (PRDM16, 605557.0001);

Prefixed ID : #615373;

Details

Origin ID

615373;

UMLS CUI

C3809288;

Automatic exact mappings (from CISMeF team)
- PRDM16 wt Allele [NCIt concept]
Genes related to phenotype
- Pr domain-containing protein 16 [OMIM gene]
HPO term(s)
- Abnormal left ventricle morphology [HPO term]
- Abnormal left ventricular function [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- Left ventricular noncompaction [HPO term]
- Mitral regurgitation [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]
Validated automatic mappings to NTBT
- Left ventricular noncompaction [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients