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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 PMID:21915365 PMID:22832530 PMID:24033266 PMID:24389050 PMID:24664114 PMID:25741868 PMID:28492532 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Pathologic Processes 6532
        Growth Disorders 765
          Insulin-Like Growth Factor I Deficiency 20
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  sensorineural hearing loss 498
                    Insulin-Like Growth Factor I Deficiency 20
paths to the root