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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:growth hormone insensitivity syndrome with immune dysregulation 2
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Accession:DOID:0080837 term browser browse the term
Definition:A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: GHISID2;   growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant;   growth hormone insensitivity with immune dysregulation 2;   growth hormone insensitivity with immune dysregulation 2, autosomal dominant
 primary_id: OMIM:618985
For additional species annotation, visit the Alliance of Genome Resources.



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growth hormone insensitivity syndrome with immune dysregulation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT OMIM
ClinVar
PMID:29844444 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      Growth Hormone Insensitivity with Immune Dysregulation 1
        growth hormone insensitivity syndrome with immune dysregulation 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              Dwarfism 504
                Growth Hormone Insensitivity with Immune Dysregulation 1
                  growth hormone insensitivity syndrome with immune dysregulation 2 1
paths to the root