ZFIN Human Disease: immunodeficiency 27A

OBO ID: DOID:0111955

Term Name:	immunodeficiency 27A		Search Ontology:
Synonyms:	autosomal recessive IFNGR1 deficiency autosomal recessive immunodeficiency 27A, mycobacteriosis autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency autosomal recessive MSMD due to partial IFNgammaR1 deficiency autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency IMD27A
Definition:	A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (3)
References:	MESH:C535530 OMIM:209950 ORDO:319569
Ontology:	Human Disease ( DOID:0111955 )

Relationships

is a type of:	autosomal recessive disease primary immunodeficiency disease autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 27A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
IFNGR1	ifngr1l	Immunodeficiency 27A, mycobacteriosis, AR	209950

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None