Summary Literature (0)

DOID:2583 - agammaglobulinemia

Disease Ontology Definition:A B cell deficiency that is caused by a reduction in all types of gamma globulins.

Synonyms: hypogammaglobulinemia, IGHM, mu heavy chain deficiency

Xenbase Genes : tcf3, prkcd, ms4a1, cd19, ikzf1, cd79a, cd81, blnk, lrba, nfkb2, nfkb1, lrrc8a, irf2bp2, pik3r1, btk, [+]

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0015977 - agammaglobulinemia

MIM:

MIM:601495 - AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1

MIM:612692 - AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6

MIM:613500 - AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2

MIM:613501 - AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3

MIM:613502 - AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4

MIM:615214 - AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee