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Disease Ontology Browser
Carvajal syndrome (DOID:0090128)
Alliance: disease page
Synonyms: DCWHK; dilated cardiomyopathy with woolly hair and keratoderma; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Alt IDs: OMIM:605676, MESH:C535581, ORDO:65282
Definition: 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.

Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory