Immunodeficiency 16
Disease ID: disease_node_13305
Connections displayed (default: 10).
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| Dbxref | MIM:615593, ORDO:431149, UMLS_CUI:C3810053 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD16, OX40 deficiency, combined immunodeficiency due to OX40 deficiency, combined immunodeficiency with childhood-onset Kaposi sarcoma, combined immunodeficiency with impaired immunity to HHV-8, combined immunodeficiency with impaired immunity to human herpes virus 8 |
| Doid Label | immunodeficiency 16 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13305 |
| Doid Id | DOID_0111935 |
| Label | Immunodeficiency 16 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease)