You are using an outdated browser. Please upgrade your browser to improve your experience.

X-linked hypohidrotic ectodermal dysplasia

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ectodysplasin.
Uniprot Description A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.
Mondo Term and Equivalent IDs
MONDO:0010585:  X-linked hypohidrotic ectodermal dysplasia
GARD:0010427: 
Orphanet:181: