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| Term | immunodeficiency 100 | ID (Ontology) | DOID:0061070 (Human Disease) |
| Definition | A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. | ||
| Also Known As | "immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia" | ||
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| DO.org | |||
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lower respiratory tract disease |__lung disease______________________ autosomal genetic disease | |__autosomal dominant disease________| immune system disease | |__primary immunodeficiency disease__| immunodeficiency 100 |
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| Is a |
autosomal dominant disease primary immunodeficiency disease lung disease |
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| MIM:618042 | |||