Terminology Service for NFDI4Health
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pachyonychia congenita

Go to external page http://purl.obolibrary.org/obo/DOID_0050449

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. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Term info

Label

pachyonychia congenita

Synonyms
  • Jackson-Lawler Type Pachyonychia Congenita
  • Jadassohn-Lewandowsky Syndrome
  • PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE
  • Pachyonychia Congenita Type 1
database cross reference
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050449