WormBase Tree Display for DO_term: DOID:0111990
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| DOID:0111990 | Name | immunodeficiency 30 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. | ||||
| Synonym | Exact | IMD30 | |||
| MSMD due to complete IL12RB1 deficiency | |||||
| MSMD due to complete interleukin 12 receptor beta 1 deficiency | |||||
| Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency | |||||
| Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0080710 | |||||
| DB_info | Database | OMIM | disease | 614891 |
