| Metadata | |
|---|---|
| ID | DOID:0050449 |
| Name | pachyonychia congenita |
| 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 |
| Xrefs |
SNOMEDCT_US_2023_03_01:39427000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Jackson-Lawler Type Pachyonychia Congenita [EXACT] Jadassohn-Lewandowsky Syndrome [EXACT] Pachyonychia Congenita Type 1 [EXACT] PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |