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
External Links
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

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024