loading...| Preferred Name | gamma chain deficiency | |
| Synonyms |
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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]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0060013 |
|
| comment |
OMIM mapping confirmed by DO. [LS]. |
|
| 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. |
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| hasAlternativeId |
DOID:5811 |
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| hasDbXref |
SNOMEDCT_US_2016_03_01:203592006 SNOMEDCT_US_2016_03_01:234569003 UMLS_CUI:C1279481 NCI:C4682 MESH:D053632 OMIM:300400 |
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| hasExactSynonym |
XSCID X-Linked Severe Combined Immunodeficiency SCID-X1 thymic epithelial hypoplasia |
|
| hasOBONamespace |
disease_ontology |
|
| id |
DOID:0060013 |
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| imported from | ||
| label |
gamma chain deficiency |
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| prefixIRI |
DOID:0060013 |
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| prefLabel |
gamma chain deficiency |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0060013 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0060013 | BAO | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0060013 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0060013 | DDSS | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0060013 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0060013 | FNS-H | SAME_URI | |
| http://www.owl-ontologies.com/NPOntology.owl#DOID_0060013 | NATPRO | LOOM | |
| http://www.ebi.ac.uk/efo/EFO_0005555 | EFO | LOOM |
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