1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0081136 | agammaglobulinemia 1 | An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |