Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
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:25741868 PMID:28492532 PMID:29844444 PMID:31690038 PMID:31902742 NCBI chr10:85,704,841...85,775,856
Ensembl chr10:85,705,670...85,775,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      Growth Hormone Insensitivity with Immune Dysregulation 4
        growth hormone insensitivity syndrome with immune dysregulation 2 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      musculoskeletal system disease 8276
        connective tissue disease 5761
          bone disease 4272
            bone development disease 2304
              Dwarfism 863
                Growth Hormone Insensitivity with Immune Dysregulation 4
                  growth hormone insensitivity syndrome with immune dysregulation 2 1
paths to the root