OBO ID: DOID:0111951
Term Name: immunodeficiency 40 Search Ontology:
Synonyms:
  • DOCK2 deficiency
  • IMD40
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 DOCK2 on chromosome 5q35.1. https://pubmed.ncbi.nlm.nih.gov/26083206/
References:
  • GARD:12653
  • NCI:C176799
  • OMIM:616433
  • ORDO:447737
  • UMLS_CUI:C4225328
Ontology: Human Disease   (DOID:0111951)
OTHER immunodeficiency 40 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DOCK2 Immunodeficiency 40 616433
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None