Term Name: | focal nonepidermolytic palmoplantar keratoderma 2 |
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Synonyms: | FNEPPK2 |
Definition: | A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. |
Ontology: | Human Disease [DOID:0111711] ( DOID:0111711 ) |