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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

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
For additional species annotation, visit the Alliance of Genome Resources.



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isolated growth hormone deficiency type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO 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
OMIM
ClinVar
PMID:3486747 PMID:7633420 PMID:7633429 PMID:7678697 PMID:7711734 More... NCBI chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      endocrine system disease 5840
        Dwarfism 504
          isolated growth hormone deficiency 31
            isolated growth hormone deficiency type III 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            thalamic disease 227
              hypothalamic disease 227
                pituitary gland disease 172
                  hypopituitarism 46
                    isolated growth hormone deficiency 31
                      isolated growth hormone deficiency type III 1
paths to the root