Metadata | |
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ID | DOID:0061086 |
Name | immunodeficiency 120 |
Definition | A combined T cell and B cell immunodeficiency that is characterized by the onset of recurrent upper and lower respiratory tract infections in early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the POLD1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/31629014/ |
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Parent Relationships | |
Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |