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DO Term : Carvajal syndrome [DOID:0090128] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.

synonyms:
MESH:C535581,
palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair,
605676,
DCWHK,
OMIM:605676,
dilated cardiomyopathy with woolly hair and keratoderma,
GARD:5595,
ORDO:65282

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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