| Metadata | |
|---|---|
| ID | DOID:0081142 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081142 Copy |
| Name | agammaglobulinemia 10 |
| Definition | An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system, and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/32384040/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a agammaglobulinemia |
| Subclass Logical Relationships |
existence starts during some Childhood onset has material basis in some autosomal dominant inheritance disease has basis in some gene |