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autosomal recessive palmoplantar keratoderma and congenital alopecia

^ http://purl.obolibrary.org/obo/MONDO_0008923

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. [ Orphanet:1366 ]

Term info

database cross reference
  • UMLS:C1859316 (Orphanet:1366/e)
  • OMIM:212360 (Orphanet:1366/e)
  • Orphanet:1366 (OMIM:212360)
  • GARD:0001139 (MONDO:equivalentTo)
  • DOID:0111245 (MONDO:equivalentTo)
  • MESH:C535336 (Orphanet:1366/e)
Subsets

gard_rare, ordo_disease

abbreviation
PPKCA2 [ MONDO:Lexical OMIM:212360 ]

definition

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1366, http://identifiers.org/mesh/C535336, https://omim.org/entry/212360, http://linkedlifedata.com/resource/umls/id/C1859316, http://purl.obolibrary.org/obo/DOID_0111245

has exact synonym

PPK-CA, Wallis type, autosomal recessive palmoplantar hyperkeratosis and congenital alopecia, palmoplantar keratoderma and congenital alopecia, Wallis type, cataract-alopecia-sclerodactyly syndrome, palmoplantar keratoderma and congenital alopecia type 2

has related synonym

cass, cataract, alopecia, sclerodactyly, cataract, alopecia, sclerodactyly syndrome, Ppkca, Wallis type, palmoplantar keratoderma and congenital alopecia 2, PPKCA2

id

MONDO:0008923

seeAlso

https://rarediseases.info.nih.gov/diseases/1139/autosomal-recessive-palmoplantar-keratoderma-and-congenital-alopecia