Cardiomyopathy, dilated, 2c

Preferred Label : Cardiomyopathy, dilated, 2c;

Symbol : CMD2C;

CISMeF acronym : CMD2C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphopantothenoylcysteine synthetase gene (PPCS, 609853.0001);

Laboratory abnormalities : Elevated serum lactate;

Prefixed ID : #618189;

Details

Origin ID

618189;

UMLS CUI

C4748647;

Currated CISMeF NLP mapping
- Dilated Cardiomyopathy-2C [NCIt concept]
Genes related to phenotype
- Phosphopantothenoylcysteine synthetase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Reduced ejection fraction [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dilated Cardiomyopathy-2C [NCIt concept]

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