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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: Fleisher syndrome, IGHD III, X-linked IGHD, X-linked agammaglobulinemia and isolated growth hormone deficiency, X-linked hypogammaglobulinemia and isolated growth hormone deficiency, X-linked isolated growth hormone deficiency, congenital IGHD type III, congenital isolated GH deficiency type III, congenital isolated growth hormone deficiency type III, growth hormone deficiency with hypogammaglobulinemia,
Xenbase Genes
:
btk
| MONDO:0010615 - isolated growth hormone deficiency type III |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
isolated growth hormone deficiency (is_a)