Cardiomyopathy, familial restrictive, 6

Preferred Label : Cardiomyopathy, familial restrictive, 6;

Symbol : RCM6;

Type : Phenotype, molecular basis known;

Prefixed ID : #619433;

Details

Origin ID

619433;

UMLS CUI

C5543638;

Genes related to phenotype
- Kinesin family member 20a [OMIM gene]
HPO term(s)
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in infancy [HPO term]
- Fetal onset [HPO term]
- Hepatomegaly [HPO term]
- Hydrops fetalis [HPO term]
- Pulmonary insufficiency [HPO term]
- Pulmonic stenosis [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Tricuspid regurgitation [HPO term]
ORDO concept(s)
- Familial isolated restrictive cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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