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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 PMID:7809124 PMID:7849697 PMID:7849721 PMID:7880320 PMID:8013627 PMID:8090769 PMID:8162018 PMID:8162056 PMID:8332900 PMID:8332901 PMID:8380905 PMID:8562928 PMID:8594569 PMID:8644706 PMID:8695804 PMID:8723128 PMID:8834236 PMID:8938104 PMID:8939985 PMID:9106525 PMID:9143921 PMID:9188445 PMID:9192269 PMID:9260159 PMID:9445504 PMID:9524120 PMID:9545398 PMID:9880544 PMID:10092645 PMID:10373551 PMID:10737994 PMID:10844531 PMID:10859027 PMID:11206059 PMID:11410123 PMID:11438999 PMID:11445810 PMID:11472359 PMID:11527964 PMID:11668622 PMID:11742281 PMID:12204007 PMID:12217331 PMID:12405164 PMID:12655572 PMID:14974089 PMID:15661032 PMID:16159644 PMID:16297664 PMID:16712653 PMID:16862044 PMID:16943681 PMID:16951917 PMID:17045652 PMID:17327079 PMID:17765309 PMID:18241230 PMID:18518992 PMID:18677443 PMID:19039656 PMID:19419768 PMID:19904586 PMID:20529312 PMID:21039741 PMID:21520333 PMID:23335184 PMID:23424595 PMID:24001798 PMID:24033266 PMID:24586880 PMID:24869598 PMID:24885015 PMID:25082755 PMID:25189416 PMID:25270678 PMID:25741868 PMID:25777788 PMID:26915675 PMID:27199251 PMID:27512878 PMID:27577878 PMID:27593100 PMID:27980540 PMID:28049639 PMID:28212557 PMID:28359783 PMID:28398200 PMID:28418267 PMID:28492532 PMID:29424453 PMID:29496671 PMID:29503650 PMID:29875397 PMID:30018078 PMID:30072168 PMID:30290665 PMID:30311057 PMID:30564228 NCBI chr  X:105,360,922...105,390,580
Ensembl chr  X:105,360,922...105,390,580 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      endocrine system disease 5010
        Dwarfism 486
          isolated growth hormone deficiency 31
            isolated growth hormone deficiency type III 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            thalamic disease 216
              hypothalamic disease 216
                pituitary gland disease 170
                  hypopituitarism 45
                    isolated growth hormone deficiency 31
                      isolated growth hormone deficiency type III 1
paths to the root