loading...| Preferred Name |
X-Linked Combined Immunodeficiency Diseases |
|
| Synonyms |
Combined Immunodeficiency, X-Linked Immunodeficiency Diseases, X-Linked Combined X Linked SCID Severe Combined Immunodeficiency, X Linked Immunodeficiency 6 Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, NK Cell-Negative X-Linked SCIDs Immunodeficiency Diseases, X-Linked X-Linked SCID XSCID X-Linked Immunodeficiency Syndromes SCIDs, X-Linked SCIDX1 X-Linked Immunodeficiency Disease Immunodeficiency Syndrome, X-Linked X Linked Immunodeficiency Syndrome Combined Immunodeficiency, X Linked X-Linked Combined Immunodeficiency X Linked Immunodeficiency Disease Severe Combined Immunodeficiency, X-Linked SCID, X Linked Immunodeficiency 4 SCIDX X Linked Combined Immunodeficiency Immunodeficiency Disease, X-Linked X-Linked Immunodeficiency Diseases SCID, X-Linked X-Linked Immunodeficiency Syndrome X-Linked Combined Immunodeficiencies Immunodeficiency, X-Linked Combined X Linked Combined Immunodeficiency Diseases X Linked Severe Combined Immunodeficiency X-SCID X-Linked Severe Combined Immunodeficiency Immunodeficiency Diseases, X Linked Combined Immunodeficiency Syndromes, X-Linked Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative |
|
| Definitions |
Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D053632 |
|
| altLabel |
Combined Immunodeficiency, X-Linked Immunodeficiency Diseases, X-Linked Combined X Linked SCID Severe Combined Immunodeficiency, X Linked Immunodeficiency 6 Severe Combined Immunodeficiency, X-Linked, T Cell-Negative, B Cell-Positive, NK Cell-Negative X-Linked SCIDs Immunodeficiency Diseases, X-Linked X-Linked SCID XSCID X-Linked Immunodeficiency Syndromes SCIDs, X-Linked SCIDX1 X-Linked Immunodeficiency Disease Immunodeficiency Syndrome, X-Linked X Linked Immunodeficiency Syndrome Combined Immunodeficiency, X Linked X-Linked Combined Immunodeficiency X Linked Immunodeficiency Disease Severe Combined Immunodeficiency, X-Linked SCID, X Linked Immunodeficiency 4 SCIDX X Linked Combined Immunodeficiency Immunodeficiency Disease, X-Linked X-Linked Immunodeficiency Diseases SCID, X-Linked X-Linked Immunodeficiency Syndrome X-Linked Combined Immunodeficiencies Immunodeficiency, X-Linked Combined X Linked Combined Immunodeficiency Diseases X Linked Severe Combined Immunodeficiency X-SCID X-Linked Severe Combined Immunodeficiency Immunodeficiency Diseases, X Linked Combined Immunodeficiency Syndromes, X-Linked Severe Combined Immunodeficiency, X-Linked, T Cell Negative, B Cell Positive, NK Cell Negative |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C1279481 |
|
| DC |
1 |
|
| definition |
Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified. |
|
| DX |
20070101 |
|
| HN |
2007 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2007 |
|
| Mapped from | ||
| MDA |
20060705 |
|
| MMR |
20190617 |
|
| MN |
C20.673.795.750.500 C16.614.815.500 C16.320.798.750.500 C16.320.322.968 |
|
| notation |
D053632 |
|
| prefLabel |
X-Linked Combined Immunodeficiency Diseases |
|
| TERMUI |
T833802 T812599 T812600 T843524 T666579 T674807 T743095 T666581 T674806 T666586 T843523 T743096 T666580 T743097 T674808 T833804 T833801 T833803 |
|
| TH |
OMIM (2013) GHR (2014) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |