|
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: 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, X-linked isolated growth hormone deficiency
Xenbase Genes
:
btk
| MONDO:0010615 - isolated growth hormone deficiency type III |
| 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, Ontobee