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pachyonychia congenita 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.
Uniprot Description An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.
Mondo Term and Equivalent IDs
MONDO:0014325:  pachyonychia congenita 4
UMLS:C3714949: