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

Referenced OMIM:
OMIM:129490 - ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT; ECTD10A
OMIM:224900 - ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B
OMIM:300291 - ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1
OMIM:305100 - ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

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

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Clouston syndrome (is_a), ectodermal dysplasia (is_a)


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