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autosomal dominant palmoplantar keratoderma and congenital alopecia

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.
Uniprot Description A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients.
Mondo Term and Equivalent IDs
MONDO:0007083:  autosomal dominant palmoplantar keratoderma and congenital alopecia
GARD:0000604: 
Orphanet:1010: 
SCTID:719518004: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found