Immunodeficiency 33
Disease ID: disease_node_13342
Connections displayed (default: 10).
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| Dbxref | MIM:300636 |
|---|---|
| Subclassof | DOID_0111962, DOID_0080012 |
| Data Source | DOID |
| Synonyms | IMD33, X-linked MSMD due to IKBKG deficiency, X-linked MSMD due to NEMO deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency, X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency |
| Doid Label | immunodeficiency 33 |
| Doid Description | A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13342 |
| Doid Id | DOID_0112003 |
| Label | Immunodeficiency 33 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined Immunodeficiency(ID:disease_node_13314) (Disease)