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Disease Ontology Browser
ectodermal dysplasia and immune deficiency (DOID:0081077)
Alliance: disease page
Synonyms: Anhidrotic ectodermal dysplasia with immune deficiency; Ectodermal dysplasia, hypohidrotic, with immune deficiency
Alt IDs: OMIM:PS300291
Definition: An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory