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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

OMIM:613502

Synonyms

B cell linker protein deficiency [EXACT]

B-cell linker protein deficiency [EXACT]

BLNK deficiency [EXACT]

Parent Relationships

is_a agammaglobulinemia

is_a autosomal recessive disease

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