Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive

Source:http://linkedlifedata.com/resource/umls/id/C0406702

MSH: An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.,NCI: A rare autosomal recessive disorder characterized by developmental abnormalities of the skin, sweat glands, hair and nails. Patients have a reduced ability to sweat. Other signs and symptoms include hypotrichosis and teeth malformations.

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