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pachyonychia congenita 1

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene.
Uniprot Description An autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.
Mondo Term and Equivalent IDs
MONDO:0008173:  pachyonychia congenita 1
SCTID:39427000: