RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Fleisher syndrome; Growth Hormone Deficiency with Hypogammaglobulinemia; Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked; IGHD III; IGHD3; Isolated growth hormone deficiency, type 3; Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia; X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY; X-linked IGHD; X-linked isolated growth hormone deficiency; congenital IGHD type III; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III
ClinVar Annotator: match by OMIM:307200 ClinVar Annotator: match by term: IGHD III ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiency