X-Linked Combined Immunodeficiency Diseases
Disease ID: disease_node_11755
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| Dbxref | GARD:5618, MESH:D053632, MIM:300400, NCI:C4682, SNOMEDCT_US_2023_03_01:203592006, UMLS_CUI:C1279481 |
|---|---|
| Subclassof | DOID_0080012, DOID_627 |
| Data Source | DOID, MESH |
| Synonyms | SCID-X1, XSCID, gamma chain deficiency, thymic epithelial hypoplasia |
| Mesh Id | D053632 |
| Mesh Label | X-Linked Combined Immunodeficiency Diseases |
| Mesh Subclassof | D040181, D016511 |
| Doid Label | X-linked severe combined immunodeficiency |
| Doid Description | A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. OMIM mapping confirmed by DO. [LS]. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_11755 |
| Doid Id | DOID_0060013 |
| Label | X-Linked Combined Immunodeficiency Diseases |
| Doid Alternate Ids | DOID_5811 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)