FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pachyonychia congenita ID (Ontology) DOID:0050449 (Human Disease)
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.
Also Known As "Jackson-Lawler Type Pachyonychia Congenita" ; "Jadassohn-Lewandowsky Syndrome" ; "Pachyonychia Congenita Type 1" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                pachyonychia congenita
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "Jackson-Lawler Type Pachyonychia Congenita" EXACT
    "Jadassohn-Lewandowsky Syndrome" EXACT
    "Pachyonychia Congenita Type 1" EXACT
    "PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE" EXACT
Secondary IDs
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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