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| Term | immunodeficiency 81 | ID (Ontology) | DOID:0061052 (Human Disease) |
| Definition | A primary immunodeficiency disease that is characterized by highly variable phenotype that may include both immunodeficiency with recurrent infections, including bacterial and fungal infections, as well as autoimmune features, including autoimmune hemolytic anemia, pancytopenia, thrombocytopenia, and inflammatory bowel disease and that has_material_basis_in homozygous or compound heterozygous mutation in the SLP76 gene on chromosome 5q33. | ||
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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 81 |
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autosomal recessive disease primary immunodeficiency disease |
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| MIM:619374 | |||