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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
For additional species annotation, visit the Alliance of Genome Resources.


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 Stat5b signal transducer and activator of transcription 5B ISO ClinVar Annotator: match by term: Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
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
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:29844444 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 17205
    syndrome 8125
      Growth Hormone Insensitivity with Immune Dysregulation 1
        growth hormone insensitivity syndrome with immune dysregulation 1 1
        growth hormone insensitivity syndrome with immune dysregulation 2 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      musculoskeletal system disease 6416
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              Dwarfism 495
                Growth Hormone Insensitivity with Immune Dysregulation 1
                  growth hormone insensitivity syndrome with immune dysregulation 1 1
                  growth hormone insensitivity syndrome with immune dysregulation 2 1
paths to the root