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pachyonychia congenita

Disease Summary
Associated Targets (5)
Tbio

5


Explore Associated Targets
Mondo Description Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
Disease Ontology Description An autosomal dominant disease that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis in gene mutations that result in changes in keratin.
Mondo Term and Equivalent IDs
MONDO:0016471:  pachyonychia congenita
GARD:0010753: 
MESH:D053549: 
NCIT:C84986: 
OMIMPS:167200: 
Orphanet:2309: 
UMLS:C0265334: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)