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Disease Ontology Browser
immunodeficiency 38 (DOID:0111934)
Alliance: disease page
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
Alt IDs: OMIM:616126, ORDO:319563
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 ISG15 on chromosome 1p36.33.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/12/2021
MGI 6.17
The Jackson Laboratory