loading...| Preferred Name |
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS |
|
| Synonyms |
CCHIDG |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/233650 |
|
| altLabel |
CCHIDG |
|
| cui |
C2673536 |
|
| Gene Locus |
11p13 |
|
| Gene Symbol |
RAG2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU023336 http://purl.bioontology.org/ontology/OMIM/MTHU023339 http://purl.bioontology.org/ontology/OMIM/MTHU023335 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU023341 http://purl.bioontology.org/ontology/OMIM/MTHU023338 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
233650 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS |
|
| Scope Statement |
Caused by mutation in the recombination-activating gene 2 (RAG2, 179616.0009) [MOLECULAR BASIS] Caused by mutation in the recombination-activating gene 1 (RAG1, 179615.0018) [MOLECULAR BASIS] Allelic disorder to T cell-negative, B cell-negative, NK cell- negative SCID (601457), which is more severe [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] |
|
| tui |
T047 |