Term Name: | immunodeficiency 95 |
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Synonyms: | |
Definition: | A primary immunodeficiency disease that is characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood and that has_material_basis_in homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24. |
Ontology: | Human Disease [DOID:0061065] ( DOID:0061065 ) |