Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Ectodermal Dysplasia
Preferred term
Pachyonychia Congenita
Type
-
Topical Descriptor
Broader concept
Narrower concepts
Entry terms
- Congenital Pachyonychia
- Pachyonychia, Congenital
- Pachyonychia Congenita Syndrome
Scope note
- A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.
History note
- 2007
In other languages
-
Finnish
-
kongenitaalinen pakyonykia
-
Swedish
-
Jackson-Lawlers syndrom
-
Jadassohn-Lewandowskys syndrom
-
Typ 1 pachyonychia congenita
-
Typ 2 pachyonychia congenita
URI
http://www.yso.fi/onto/mesh/D053549
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