ZFIN Human Disease: immunodeficiency 44

OBO ID: DOID:0111975

Term Name:	immunodeficiency 44		Search Ontology:
Synonyms:	IMD44
Definition:	A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. (2)
References:	OMIM:616636
Ontology:	Human Disease ( DOID:0111975 )

Relationships

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

OTHER immunodeficiency 44 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STAT2	stat2	Immunodeficiency 44	616636

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None