Term Name: | isolated growth hormone deficiency type III |
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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 |
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. |
Ontology: | Human Disease [DOID:0060875] ( DOID:0060875 ) |