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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

MESH:C535336

OMIM:212360

ORDO:1366

UMLS_CUI:C1859316

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

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