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Metadata
ID DOID:0061065
Name immunodeficiency 95
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.
https://pubmed.ncbi.nlm.nih.gov/34185153/
Xrefs

MIM:619773
Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease
Subclass Logical Relationships

existence starts during some (Infantile onset or Childhood onset)

has material basis in some autosomal recessive inheritance

has material basis in some loss_of_function_variant

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