Metadata | |
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ID | DOID:0081079 |
Name | ectodermal dysplasia and immunodeficiency 2 |
Definition | An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. https://pubmed.ncbi.nlm.nih.gov/28597146/ |
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Subclass Logical Relationships |
has phenotype some Abnormality of immune system physiology has material basis in some autosomal dominant inheritance |