loading...| Preferred Name | X-linked severe combined immunodeficiency | |
| Synonyms |
gamma chain deficiency XSCID thymic epithelial hypoplasia SCID-X1 |
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| Definitions |
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]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060013 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. |
|
| alternative label |
gamma chain deficiency XSCID thymic epithelial hypoplasia SCID-X1 |
|
| database_cross_reference |
UMLS_CUI:C1279481 SNOMEDCT_US_2023_03_01:203592006 MESH:D053632 GARD:5618 MIM:300400 NCI:C4682 |
|
| definition |
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 exact synonym |
gamma chain deficiency XSCID thymic epithelial hypoplasia SCID-X1 |
|
| has material basis in | ||
| has_alternative_id |
DOID:5811 |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0060013 |
|
| in_subset | ||
| label |
X-linked severe combined immunodeficiency |
|
| notation |
DOID:0060013 |
|
| note |
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]. |
|
| preferred label |
X-linked severe combined immunodeficiency |
|
| prefLabel |
X-linked severe combined immunodeficiency |
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| subClassOf |