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