Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Ectodermal Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Ectodermal Dysplasia
Término preferido
Pachyonychia Congenita
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Tipo
-
mesh:Descriptor
Definición
- 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.
Concepto genérico
Conceptos específicos
Etiquetas alternativas
- Congenital Pachyonychia
- Pachyonychia Congenita Syndrome
En otras lenguas
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francés
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Pachyonychie congénitale de type I
URI
http://data.loterre.fr/ark:/67375/JVR-QSNMKLTM-6
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