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Summary Literature (0)
DOID:0050449 - pachyonychia congenita

Disease Ontology 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.

Synonyms: Jackson-Lawler Type Pachyonychia Congenita, Jadassohn-Lewandowsky Syndrome, PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE, Pachyonychia Congenita Type 1

Xenbase Genes : krt17, krt6b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0016471 - pachyonychia congenita

MIM:
MIM:167200 - PACHYONYCHIA CONGENITA 1; PC1
MIM:167210 - PACHYONYCHIA CONGENITA 2; PC2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), syndrome (is_a)