Cardiomyopathy, familial hypertrophic, 27

Preferred Label : Cardiomyopathy, familial hypertrophic, 27;

Symbol : CMH27;

CISMeF acronym : CMH27;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha kinase-3 gene (ALPK3, 617608.0001);

Prefixed ID : #618052;

Details

Origin ID

618052;

UMLS CUI

C4748014;

Automatic exact mappings (from CISMeF team)
- ALPK3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 27 [NCIt concept]
Genes related to phenotype
- Alpha kinase 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Hydrops fetalis [HPO term]
- Mitral regurgitation [HPO term]
- Prolonged QT interval [HPO term]
- Tricuspid regurgitation [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Hypertrophic Cardiomyopathy Type 27 [NCIt concept]

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