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Disease Ontology Browser
pachyonychia congenita (DOID:0050449)
Alliance: disease page
Synonyms: Jackson-Lawler Type Pachyonychia Congenita; Jadassohn-Lewandowsky Syndrome; Pachyonychia Congenita Type 1; PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
Alt IDs: MESH:D053549, NCI:C84986, OMIM:PS167200, ORDO:2309, UMLS_CUI:C0265334, UMLS_CUI:C1706595, UMLS_CUI:C1721007
Definition: A syndrome 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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory