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ONTOLOGY REPORT - ANNOTATIONS


Term:isolated growth hormone deficiency type III
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Accession:DOID:0060875 term browser browse the term
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. (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
 primary_id: MESH:C537149
 alt_id: OMIM:307200;   RDO:0002930
 xref: GARD:3921;   ORDO:231692
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isolated growth hormone deficiency type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Btk Bruton tyrosine kinase JBrowse link X 105,360,922 105,390,580 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      primary immunodeficiency disease 978
        agammaglobulinemia 55
          isolated growth hormone deficiency type III 1
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            thalamic disease 187
              hypothalamic disease 187
                pituitary gland disease 145
                  hypopituitarism 40
                    isolated growth hormone deficiency 28
                      isolated growth hormone deficiency type III 1
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