| Metadata | |
|---|---|
| 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/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
has phenotype some Abnormality of immune system physiology has material basis in some autosomal dominant inheritance |