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punctate palmoplantar keratoderma type 1

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..
Mondo Term and Equivalent IDs
MONDO:0019332:  punctate palmoplantar keratoderma type 1
GARD:0003103: 
Orphanet:79501: 
SCTID:717184007: 
UMLS:CN205995: