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Metadata
ID DOID:0080551
Name Naxos 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.
https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes, https://rarediseases.info.nih.gov/diseases/9795/disease, https://www.ncbi.nlm.nih.gov/pubmed/29747658
Xrefs

GARD:9795

MESH:C538346

OMIM:601214

ORDO:34217

Subsets

DO_rare_slim

Parent Relationships

is_a nonepidermolytic palmoplantar keratoderma

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