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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 1
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Accession:DOID:0080836 term browser browse the term
Definition:A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: GHISID1;   Laron syndrome due to postreceptor defect;   Laron syndrome type 2;   Laron type dwarfism 2;   growth hormone insensitivity due to postreceptor defect;   growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive;   growth hormone insensitivity with immune dysregulation 1;   growth hormone insensitivity with immune dysregulation 1, autosomal recessive;   growth hormone insensitivity with immunodeficiency
 primary_id: MESH:C537871
 alt_id: OMIM:245590
 xref: GARD:3924;   ORDO:220465
For additional species annotation, visit the Alliance of Genome Resources.



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growth hormone insensitivity syndrome with immune dysregulation 1 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
OMIM
CTD
ClinVar
PMID:9536098 PMID:13679528 PMID:15827093 PMID:16199547 PMID:16464942 More... 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 18030
    syndrome 9456
      Growth Hormone Insensitivity with Immune Dysregulation 1
        growth hormone insensitivity syndrome with immune dysregulation 1 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      musculoskeletal system disease 7137
        connective tissue disease 4899
          bone disease 3577
            bone development disease 1760
              Dwarfism 692
                Growth Hormone Insensitivity with Immune Dysregulation 1
                  growth hormone insensitivity syndrome with immune dysregulation 1 1
paths to the root