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| Term | ectodermal dysplasia and immunodeficiency 1 | ID (Ontology) | DOID:0081078 (Human Disease) |
| Definition | An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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X-linked monogenic disease |__X-linked recessive disease__________________ ectodermal dysplasia | |__ectodermal dysplasia and immune deficiency__| primary immunodeficiency disease | |__ectodermal dysplasia and immune deficiency__| ectodermal dysplasia and immunodeficiency 1 |
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| Parents/Children View Depth |
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| Is a |
X-linked recessive disease ectodermal dysplasia and immune deficiency |
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External Crossreferences & Linkouts
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MIM:300291 ORDO:69088 |
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