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Metadata
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

OMIM:616669

Synonyms

IMD45 [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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