Metadata | |
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ID | DOID:0111994 |
Name | immunodeficiency 45 |
Definition | A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. https://pubmed.ncbi.nlm.nih.gov/26424569/ |
Xrefs | |
Synonyms |
IMD45 [EXACT] |
Parent Relationships |