Metadata | |
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ID | DOID:0081142 |
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 |