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autosomal recessive hypohidrotic ectodermal dysplasia

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0016619:  autosomal recessive hypohidrotic ectodermal dysplasia
GARD:0002057: 
MESH:D053360: 
NCIT:C84580: 
Orphanet:248: 
SCTID:27025001: 
UMLS:C0406702: