loading...| Preferred Name |
COMBINED IMMUNODEFICIENCY, X-LINKED |
|
| Synonyms |
XCID IMD6 IMMUNODEFICIENCY 6 CIDX |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/312863 |
|
| altLabel |
XCID IMD6 IMMUNODEFICIENCY 6 CIDX |
|
| cui |
C1279481 |
|
| Gene Locus |
Xq13 |
|
| Gene Symbol |
SCIDX IL2RG SCIDX1 IMD4 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006900 http://purl.bioontology.org/ontology/OMIM/MTHU006897 http://purl.bioontology.org/ontology/OMIM/MTHU006899 http://purl.bioontology.org/ontology/OMIM/MTHU006893 http://purl.bioontology.org/ontology/OMIM/MTHU006896 http://purl.bioontology.org/ontology/OMIM/MTHU006894 http://purl.bioontology.org/ontology/OMIM/MTHU005462 http://purl.bioontology.org/ontology/OMIM/MTHU002638 http://purl.bioontology.org/ontology/OMIM/MTHU006895 http://purl.bioontology.org/ontology/OMIM/MTHU006898 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
312863 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
COMBINED IMMUNODEFICIENCY, X-LINKED |
|
| Scope Statement |
Reduced life expectancy [MISCELLANEOUS] Caused by mutations in the interleukin-2 receptor, gamma chain, gene (IL2RG, 308380.0008) [MOLECULAR BASIS] |
|
| tui |
T047 |