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DOID:0111245 - palmoplantar keratoderma and congenital alopecia 2
Disease Ontology Definition:An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.
Synonyms: CASS, PPK-CA, Wallis type, PPKCA Wallis type, PPKCA2, autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, autosomal recessive palmoplantar keratoderma and congenital alopecia, cataract-alopecia-sclerodactyly syndrome, palmoplantar keratoderma and congenital alopecia, Wallis type,
Xenbase Genes :
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
ectodermal dysplasia (is_a),
physical disorder (is_a)