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pachyonychia congenita 2

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 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 and hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the presence of natal teeth.
Mondo Term and Equivalent IDs
MONDO:0008174:  pachyonychia congenita 2