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| Term | immunodeficiency 38 | ID (Ontology) | DOID:0111934 (Human Disease) |
| 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. | ||
| Also Known As | "autosomal recessive ISG15 deficiency" ; "IMD38" ; "immunodeficiency 38 with basal ganglia calcification" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease_______ immune system disease | |__primary immunodeficiency disease__| immunodeficiency 38 |
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| Is a |
autosomal recessive disease primary immunodeficiency disease |
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External Crossreferences & Linkouts
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MIM:616126 ORDO:319563 |
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