Metadata | |
---|---|
ID | DOID:0060027 |
Name | agammaglobulinemia 4 |
Definition | An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. https://www.ncbi.nlm.nih.gov/pubmed/10583958 |
Xrefs | |
Synonyms |
B cell linker protein deficiency [EXACT] B-cell linker protein deficiency [EXACT] BLNK deficiency [EXACT] |
Parent Relationships |
is_a agammaglobulinemia |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |