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disease: Ectodermal dysplasia, 'pure' hair-nail type

id1135
nameEctodermal dysplasia, 'pure' hair-nail type
descriptionSome ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia of the hair/nail type is a rare congenital condition characterized by hypotrichosis and nail dystrophy without nonectodermal or other ectodermal manifestations.
variant-disease NM_002283.4(KRT85):c.1448_1449del (p.Pro483fs) AND Ectodermal dysplasia, 'pure' hair-nail type
NM_002283.4(KRT85):c.823T>C (p.Ser275Pro) AND Ectodermal dysplasia, 'pure' hair-nail type
NM_175053.4(KRT74):c.821T>C (p.Phe274Ser) AND Ectodermal dysplasia, 'pure' hair-nail type
NM_002283.4(KRT85):c.233G>A (p.Arg78His) AND Ectodermal dysplasia, 'pure' hair-nail type