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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 1
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Accession:DOID:9003039 term browser browse the term
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, autosomal recessive;   growth hormone insensitivity with immunodeficiency
 primary_id: MESH:C537871
 alt_id: OMIM:245590
For additional species annotation, visit the Alliance of Genome Resources.


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Growth Hormone Insensitivity 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
OMIM
ClinVar
CTD
PMID:13679528, PMID:15827093, PMID:16464942, PMID:16787985, PMID:17030597, 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 16023
    syndrome 7003
      Growth Hormone Insensitivity with Immune Dysregulation 1
        Growth Hormone Insensitivity with Immune Dysregulation 1 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              Dwarfism 495
                Growth Hormone Insensitivity with Immune Dysregulation 1
                  Growth Hormone Insensitivity with Immune Dysregulation 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.