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pachyonychia congenita 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615726
UMLS:C3714948
MONDO:0014324
High level summary of knowledge for a disease, including descriptions and datasource references.