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 )