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Summary Literature (0)
DOID:0060027 - agammaglobulinemia 4


Disease Ontology Definition:An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.

Synonyms: B cell linker protein deficiency, B-cell linker protein deficiency, BLNK deficiency,

Xenbase Genes :

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0000584 - B cell linker protein deficiency


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): agammaglobulinemia (is_a), autosomal recessive disease (is_a)