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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 Deficiency
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Accession:DOID:9006877 term browser browse the term
Synonyms:exact_synonym: Growth Retardation with Sensorineural Deafness and Mental Retardation;   IGF1 Deficiency
 primary_id: MESH:C563867
 alt_id: OMIM:608747


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Insulin-Like Growth Factor I Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency		 OMIM
CTD
ClinVar		 PMID:8857020 PMID:15769976 PMID:18317720 PMID:19240240 PMID:21915365 More... NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Pathologic Processes 7726
        Growth Disorders 998
          Insulin-Like Growth Factor I Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Hearing Loss 810
                    sensorineural hearing loss 619
                      Insulin-Like Growth Factor I Deficiency 1
paths to the root