loading...| Preferred Name |
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED |
|
| Synonyms |
XSCID SCIDX1 IMD4 IMMUNODEFICIENCY 4 SCID, X-LINKED SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE SCIDX |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300400 |
|
| altLabel |
XSCID SCIDX1 IMD4 IMMUNODEFICIENCY 4 SCID, X-LINKED SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE SCIDX |
|
| cui |
C1279481 |
|
| Gene Locus |
Xq13 |
|
| Gene Symbol |
SCIDX IL2RG SCIDX1 IMD4 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU042231 http://purl.bioontology.org/ontology/OMIM/MTHU008320 http://purl.bioontology.org/ontology/OMIM/MTHU008324 http://purl.bioontology.org/ontology/OMIM/MTHU008328 http://purl.bioontology.org/ontology/OMIM/MTHU008325 http://purl.bioontology.org/ontology/OMIM/MTHU008327 http://purl.bioontology.org/ontology/OMIM/MTHU002638 http://purl.bioontology.org/ontology/OMIM/MTHU008323 http://purl.bioontology.org/ontology/OMIM/MTHU008317 http://purl.bioontology.org/ontology/OMIM/MTHU004140 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU005469 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU008318 http://purl.bioontology.org/ontology/OMIM/MTHU008322 http://purl.bioontology.org/ontology/OMIM/MTHU042232 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
300400 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED |
|
| Scope Statement |
Caused by mutation in the interleukin receptor gamma chain gene (IL2RG, 308380.0001) [MOLECULAR BASIS] Death within first year of life [MISCELLANEOUS] |
|
| tui |
T047 |