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| Term | Naxos disease | ID (Ontology) | DOID:0080551 (Human Disease) |
| Definition | A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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palmoplantar keratosis |__nonepidermolytic palmoplantar keratoderma |__Naxos disease 2 rec. |__Carvajal syndrome 1 rec. |
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| Is a | nonepidermolytic palmoplantar keratoderma | ||
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External Crossreferences & Linkouts
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GARD:9795 MESH:C538346 MIM:601214 ORDO:34217 |
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