Summary Literature (0)

DOID:0111244 - palmoplantar keratoderma and congenital alopecia 1

Disease Ontology 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.

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, PPKCA1, PPK-CA, Stevanovic type, PPKCA Stevanovic type

Xenbase Genes : gja1



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee