pachyonychia congenita

Summary
Synonym
  • Jackson-Lawler Type Pachyonychia Congenita
  • Jadassohn-Lewandowsky Syndrome
  • PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
  • Pachyonychia Congenita Type 1
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.
Super Class
autosomal dominant disease syndrome
Disease Ontology
DOID:0050449
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3872 KRT17 keratin 17

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024