Ectodermal Dysplasia And Immunodeficiency 1
Disease ID: disease_node_18091
Connections displayed (default: 10).
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| Dbxref | MIM:300291, ORDO:69088 |
|---|---|
| Subclassof | DOID_0080012, DOID_0081077 |
| Data Source | DOID |
| Doid Label | ectodermal dysplasia and immunodeficiency 1 |
| Doid Description | 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. |
| Has Phenotype | HP_0010978 |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_18091 |
| Doid Id | DOID_0081078 |
| Label | Ectodermal Dysplasia And Immunodeficiency 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Ectodermal Dysplasia And Immune Deficiency(ID:disease_node_18089) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)