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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 hypogammaglobulinemia and isolated growth hormone deficiency, X-linked IGHD, X-linked isolated growth hormone deficiency, X-linked agammaglobulinemia and isolated growth hormone deficiency
Echinobase Genes
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| MIM:307200 - isolated growth hormone deficiency, type iii; ighd3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee