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| Term | ectodermal dysplasia and immune deficiency | ID (Ontology) | DOID:0081077 (Human Disease) |
| 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. | ||
| Also Known As | "Anhidrotic ectodermal dysplasia with immune deficiency" ; "Ectodermal dysplasia, hypohidrotic, with immune deficiency" | ||
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syndrome |__ectodermal dysplasia______________ immune system disease | |__primary immunodeficiency disease__| ectodermal dysplasia and immune deficiency 1 rec. |__ectodermal dysplasia and immunodeficiency 1 |__ectodermal dysplasia and immunodeficiency 2 1 rec. |
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| Is a |
ectodermal dysplasia primary immunodeficiency disease |
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External Crossreferences & Linkouts
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GARD:9936 MIM:PS300291 |
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