Cardiomyopathy, familial hypertrophic, 18

Preferred Label : Cardiomyopathy, familial hypertrophic, 18;

Symbol : CMH18;

CISMeF acronym : CMH18;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phospholamban gene (PLN, 172405.0002);

Prefixed ID : #613874;

Details

Origin ID

613874;

UMLS CUI

C3151265;

Currated CISMeF NLP mapping
- hypertrophic cardiomyopathy 18 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 18 [DO Concept]
Genes related to phenotype
- Phospholamban [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Chest pain [HPO term]
- Left ventricular hypertrophy [HPO term]
ORDO concept(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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