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Summary Literature (0)
DOID:0060875 - isolated growth hormone deficiency type III

Disease Ontology Definition:An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.

Synonyms: X-linked isolated growth hormone deficiency, congenital IGHD type III, congenital isolated GH deficiency type III, congenital isolated growth hormone deficiency type III, Fleisher syndrome, growth hormone deficiency with hypogammaglobulinemia, IGHD III, X-linked agammaglobulinemia and isolated growth hormone deficiency, X-linked hypogammaglobulinemia and isolated growth hormone deficiency, X-linked IGHD

Xenbase Genes : btk

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010615 - isolated growth hormone deficiency type III

MIM:
MIM:307200 - ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; IGHD3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): isolated growth hormone deficiency (is_a), X-linked recessive disease (is_a)