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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 ClinVar Annotator: match by OMIM:245590
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth hormone insensitivity with immunodeficiency
ClinVar Annotator: match by term: Laron syndrome due to postreceptor defect
ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
OMIM
ClinVar
CTD
PMID:9536098 PMID:13679528 PMID:15827093 PMID:16464942 PMID:16787985 PMID:17030597 PMID:17576681 PMID:24033266 PMID:24825865 PMID:24972766 PMID:25586472 PMID:25741868 PMID:26703237 PMID:27600764 PMID:28492532 PMID:29200404 PMID:29844444 NCBI chr10:88,686,207...88,712,313
Ensembl chr10:88,686,207...88,754,829
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      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 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        connective tissue disease 3651
          bone disease 2997
            bone development disease 1326
              Dwarfism 488
                Growth Hormone Insensitivity with Immune Dysregulation 1
                  growth hormone insensitivity syndrome with immune dysregulation 1 1
paths to the root