Summary Literature (0)

DOID:14793 - hypohidrotic ectodermal dysplasia

Disease Ontology Definition:A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth).

Synonyms: Christ-Siemens-Touraine Syndrome, Ectodermal Dysplasia 1, Anhydrotic, Hypohidrotic X-linked ectodermal dysplasia (disorder), anhidrotic ectodermal dysplasia 3,

Echinobase Genes :


OMIM:

MIM:129490 - ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant; ectd10a

MIM:224900 - ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive; ectd10b

MIM:300291 - ectodermal dysplasia, hypohidrotic, with immune deficiency

MIM:305100 - ectodermal dysplasia 1, hypohidrotic, x-linked; xhed

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee