WormBase Tree Display for DO_term: DOID:0111951
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| DOID:0111951 | Name | immunodeficiency 40 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. | ||||
| Synonym | Exact | DOCK2 deficiency | |||
| IMD40 | |||||
| Parent | Is_a | DOID:628 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 616433 | |
| Attribute_of | Gene_by_orthology | WBGene00000419 |
