OBO ID: DOID:0050449
Term Name: pachyonychia congenita Search Ontology:
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
  • NCI:C84986
  • OMIM:PS167200
  • 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 pachyonychia congenita PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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