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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:Insulin-Like Growth Factor I, Resistance To
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Accession:DOID:9000145 term browser browse the term
Synonyms:exact_synonym: IGF-I Resistance;   IGF1R-RELATED DISORDER;   INSULIN-LIKE GROWTH FACTOR 1 RESISTANCE TO;   INSULIN-LIKE GROWTH FACTOR I RESISTANCE;   Somatomedin C, Resistance To;   Somatomedin, End-Organ Insensitivity To
 narrow_synonym: IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN
 primary_id: MESH:C564816;   RDO:0013649
 alt_id: OMIM:270450
For additional species annotation, visit the Alliance of Genome Resources.


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Insulin-Like Growth Factor I, Resistance To term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1r insulin-like growth factor 1 receptor ISO ClinVar Annotator: match by OMIM:270450
ClinVar Annotator: match by term: Insulin-Like Growth Factor I Resistance
ClinVar Annotator: match by term: IGF-I RESISTANCE
ClinVar Annotator: match by term: Insulin-like growth factor 1 resistance to
OMIM
ClinVar
PMID:14657428 PMID:15799978 PMID:15928254 PMID:16569742 PMID:16894147 PMID:17264177 PMID:18316725 PMID:18989367 PMID:20416304 PMID:20455999 PMID:20625407 PMID:21204214 PMID:22130793 PMID:22903739 PMID:23045302 PMID:23073384 PMID:23147026 PMID:23164529 PMID:23431249 PMID:23549953 PMID:23771920 PMID:25040157 PMID:25231023 PMID:25628647 PMID:25741868 PMID:25743390 PMID:26252249 PMID:28492532 PMID:30848790 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Pathological Conditions, Signs and Symptoms 8822
      Pathologic Processes 6194
        Growth Disorders 323
          Insulin-Like Growth Factor I, Resistance To 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4795
          Multiple Abnormalities 1757
            Insulin-Like Growth Factor I, Resistance To 1
paths to the root