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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.
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:167210
MONDO:0008174
High level summary of knowledge for a disease, including descriptions and datasource references.