| Metadata | |
|---|---|
| ID | DOID:0111245 |
| Name | palmoplantar keratoderma and congenital alopecia 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/20635335 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive palmoplantar hyperkeratosis and congenital alopecia [EXACT] autosomal recessive palmoplantar keratoderma and congenital alopecia [EXACT] CASS [EXACT] cataract-alopecia-sclerodactyly syndrome [EXACT] palmoplantar keratoderma and congenital alopecia, Wallis type [EXACT] PPK-CA, Wallis type [EXACT] PPKCA Wallis type [EXACT] PPKCA2 [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia is_a physical disorder |