RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
palmoplantar keratoderma and congenital alopecia 2
An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. (DO)
Synonyms:
exact_synonym:
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; cataract-alopecia-sclerodactyly syndrome; palmoplantar keratoderma and congenital alopecia, Wallis type