Metadata | |
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ID | DOID:0061093 |
Name | immunodeficiency 128 |
Definition | A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/33529166/ |
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Parent Relationships | |
Subclass Logical Relationships |
existence starts during some (Infantile onset or Neonatal onset) has material basis in some autosomal recessive inheritance |