|
| General Information | |||
|---|---|---|---|
| Term | immunodeficiency 40 | ID (Ontology) | DOID:0111951 (Human Disease) |
| 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. | ||
| Also Known As | "DOCK2 deficiency" ; "IMD40" | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease__________________ combined immunodeficiency | |__combined T cell and B cell immunodeficiency__| immunodeficiency 40 1 rec. |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease combined T cell and B cell immunodeficiency |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:12653 MIM:616433 NCI:C176799 ORDO:447737 SNOMEDCT_US_2023_03_01:1197479002 UMLS_CUI:C4225328 |
|||