Search Ontology:
Human Disease

pachyonychia congenita

Term ID
DOID:0050449
Synonyms
  • Jackson-Lawler Type Pachyonychia Congenita
  • Jadassohn-Lewandowsky Syndrome
  • Pachyonychia Congenita Type 1
  • PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
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. https://ghr.nlm.nih.gov/condition/pachyonychia-congenita
References
  • GARD:10753
  • MESH:D053549
  • MIM:PS167200
  • NCI:C84986
  • ORDO:2309
  • SNOMEDCT_US_2023_03_01:39427000
  • UMLS_CUI:C0265334
  • UMLS_CUI:C1706595
  • UMLS_CUI:C1721007
Ontology
Human Disease   ( DOID:0050449 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models