Summary Literature (0)

DOID:14793 - hypohidrotic ectodermal dysplasia

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

Xenbase Genes : edar, ikbkg, edaradd, kdf1, eda

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0016535 - white matter of occipital lobe

MIM:

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 AND IMMUNODEFICIENCY 1; EDAID1

MIM:305100 - ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED

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

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