Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis

Preferred Label : Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis;

Symbol : DCWHKTA;

CISMeF acronym : DCWHKTA;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the desmoplakin gene (DSP, 125647.0015);

Prefixed ID : #615821;

Détails

Origin ID

615821;

UMLS CUI

C4014393;

Genes related to phenotype
- Desmoplakin [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Erythema [HPO term]
- Fragile nails [HPO term]
- Gingival recession [HPO term]
- Hyperkeratosis [HPO term]
- Ichthyosis [HPO term]
- Leukonychia [HPO term]
- Nail dystrophy [HPO term]
- Palmoplantar keratoderma [HPO term]
- Parakeratosis [HPO term]
- Pruritus [HPO term]
- Syncope [HPO term]
- Tachycardia [HPO term]
- Tooth agenesis [HPO term]
- Woolly hair [HPO term]
ORDO concept(s)
- Carvajal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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