Left ventricular noncompaction 10

Preferred Label : Left ventricular noncompaction 10;

Symbol : LVNC10;

CISMeF acronym : CMD1MM; LVNC10;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cardiomyopathy, dilated, 1mm; CMD1MM;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cardiac myosin-binding protein-C gene (MYBPC3, 600958.0024);

Prefixed ID : #615396;

Details

Origin ID

615396;

UMLS CUI

C3715165;

Genes related to phenotype
- Myosin-binding protein C, cardiac [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Left ventricular noncompaction [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Left ventricular noncompaction [ORDO Disease]
See also inter- (CISMeF)
- MYBPC3 wt Allele [NCIt concept]
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) :

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