OBO ID: DOID:0111990
Term Name: immunodeficiency 30 Search Ontology:
Synonyms:
  • IMD30
  • Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
  • MSMD due to complete IL12RB1 deficiency
  • MSMD due to complete interleukin 12 receptor beta 1 deficiency
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 IL12RB1 on chromosome 19p13.11. (3)
References:
  • NCI:C176800
  • OMIM:614891
  • ORDO:319552
  • UMLS_CUI:C4013949
Ontology: Human Disease   (DOID:0111990)
OTHER immunodeficiency 30 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
IL12RB1 Immunodeficiency 30 614891
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None