ZFIN Human Disease: immunodeficiency 30

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 the IL12RB1 gene on chromosome 19p13.11. (3)
References:	NCI:C176800 OMIM:614891 ORDO:319552 UMLS_CUI:C4013949
Ontology:	Human Disease ( DOID:0111990 )

Relationships

is a type of:	autosomal recessive disease T cell and NK cell immunodeficiency autosomal recessive disease T cell and NK cell immunodeficiency Show first 5 Terms

OTHER immunodeficiency 30 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IL12RB1	il12rb1	Immunodeficiency 30	614891

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None