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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 with Immune Dysregulation
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Accession:DOID:9000309 term browser browse the term
Synonyms:exact_synonym: growth hormone insensitivity syndrome with immune dysregulation
 xref: OMIM:PS245590


show annotations for term's descendants           Sort by:
growth hormone insensitivity syndrome with immune dysregulation 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cavin1 caveolae associated protein 1 ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive ClinVar PMID:28492532 NCBI chr10:85,884,100...85,896,136
Ensembl chr10:85,889,036...85,896,120 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive ClinVar PMID:28492532 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Stat5a signal transducer and activator of transcription 5A ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive ClinVar PMID:28492532 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866 		JBrowse link
G Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 		JBrowse link
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 21122
    syndrome 10725
      Growth Hormone Insensitivity with Immune Dysregulation 4
        growth hormone insensitivity syndrome with immune dysregulation 1 4
        growth hormone insensitivity syndrome with immune dysregulation 2 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      musculoskeletal system disease 8216
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              Dwarfism 836
                Growth Hormone Insensitivity with Immune Dysregulation 4
                  growth hormone insensitivity syndrome with immune dysregulation 1 4
                  growth hormone insensitivity syndrome with immune dysregulation 2 1
paths to the root