| Metadata | |
|---|---|
| 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/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal recessive inheritance |