Left ventricular noncompaction 7

Preferred Label : Left ventricular noncompaction 7;

Symbol : LVNC7;

CISMeF acronym : LVNC7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the mindbomb E3 ubiquitin protein ligase 1 gene (MIB1, 608677.0001);

Prefixed ID : #615092;

Details

Origin ID

615092;

UMLS CUI

C3554496;

Automatic exact mappings (from CISMeF team)
- Left ventricular noncompaction [ORDO Disease]
Currated CISMeF NLP mapping
- Left Ventricular Noncompaction 7 [NCIt concept]
Genes related to phenotype
- Mindbomb e3 ubiquitin protein ligase 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Left ventricular noncompaction [HPO term]
- Left ventricular noncompaction cardiomyopathy [HPO term]
ORDO concept(s)
- Left ventricular noncompaction [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Left Ventricular Noncompaction 7 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients