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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Pachyonychia Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Pachyonychia Congenita
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Pachyonychia Congenita
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Pachyonychia Congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Pachyonychia Congenita
Skin and Connective Tissue Diseases > Skin Diseases > Nail Diseases > Pachyonychia Congenita

Preferred term

Pachyonychia Congenita  

Type

  • mesh:Descriptor

Definition

  • 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. A subtype of pachyonychia congenita that is associated with mutations in the gene for KERATIN-16 and the gene for KERATIN-6A. A subtype of pachyonychia congenita that is associated with mutations in the genes for KERATIN-17 or KERATIN-6B.

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Entry terms

  • Congenital Pachyonychia
  • Pachyonychia Congenita Syndrome

Allowable Qualifier(s)

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URI

http://data.loterre.fr/ark:/67375/JVR-QSNMKLTM-6

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RDF/XML TURTLE JSON-LD Created 7/5/06, last modified 6/14/18