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skos:definition |
MSH: 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.,NCI: A rare genetic disorder caused by mutations in the KRT6A, KRT6B, KRT616, and KRT17 genes. It is characterized by hypertrophy and abnormalities in the shape of the fingernails and toe nails.
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