ZFIN Human Disease: immunodeficiency 38

OBO ID: DOID:0111934

Term Name:	immunodeficiency 38		Search Ontology:
Synonyms:	autosomal recessive ISG15 deficiency IMD38 immunodeficiency 38 with basal ganglia calcification immunodeficiency 38, mycobacteriosis, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Definition:	A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. (2)
References:	OMIM:616126 ORDO:319563
Ontology:	Human Disease ( DOID:0111934 )

Relationships

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

OTHER immunodeficiency 38 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ISG15	isg15	Immunodeficiency 38	616126

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None