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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;   RDO:0013012
 alt_id: OMIM:608747
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by OMIM:608747
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Insulin-like growth factor I deficiency
ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation
OMIM
ClinVar
PMID:8857020 PMID:14684690 PMID:15769976 PMID:18317720 PMID:19240240 More... NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Growth Disorders 783
          Insulin-Like Growth Factor I Deficiency 20
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  sensorineural hearing loss 609
                    Insulin-Like Growth Factor I Deficiency 20
paths to the root