Ectodermal Dysplasia And Immunodeficiency 2
Disease ID: disease_node_18090
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| Dbxref | MIM:612132 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081077 |
| Data Source | DOID |
| Doid Label | ectodermal dysplasia and immunodeficiency 2 |
| Doid Description | 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. |
| Has Phenotype | HP_0010978 |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18090 |
| Doid Id | DOID_0081079 |
| Label | Ectodermal Dysplasia And Immunodeficiency 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Ectodermal Dysplasia And Immune Deficiency(ID:disease_node_18089) (Disease)