Term Name: | palmoplantar keratoderma and congenital alopecia 1 |
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Synonyms: | autosomal dominant palmoplantar hyperkeratosis and congenital alopecia, autosomal dominant palmoplantar keratoderma and congenital alopecia, keratoderma-hypotrichosis-leukonychia totalis syndrome, palmoplantar keratoderma and congenital alopecia, Stevanovic type, PPK-CA, Stevanovic type, PPKCA Stevanovic type, PPKCA1 |
Definition: | An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. |
Ontology: | Human Disease [DOID:0111244] ( DOID:0111244 ) |