Search Ontology:
Human Disease
ectodermal dysplasia and immune deficiency
- Term ID
- DOID:0081077
- Synonyms
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- Anhidrotic ectodermal dysplasia with immune deficiency
- Ectodermal dysplasia, hypohidrotic, with immune deficiency
- 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. (3)
- References
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- GARD:9936
- MIM:PS300291
- Ontology
- Human Disease ( DOID:0081077 )
- is a type of
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- has subtype
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Other Pages
Genes Involved
Zebrafish Models