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| Term | immunodeficiency 94 | ID (Ontology) | DOID:0061064 (Human Disease) |
| Definition | A primary immunodeficiency disease that is characterized by lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features and that has_material_basis_in heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11. | ||
| Also Known As | "immunodeficiency 94 with autoinflammation and dysmorphic facies" | ||
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autosomal genetic disease |__autosomal dominant disease________ immune system disease | |__primary immunodeficiency disease__| immunodeficiency 94 |
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| Is a |
autosomal dominant disease primary immunodeficiency disease |
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| MIM:619750 | |||