Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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



show annotations for term's descendants           Sort by:
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 term: Growth retardation with sensorineural deafness and mental retardation | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency OMIM
ClinVar
PMID:8857020 PMID:14684690 PMID:15769976 PMID:18317720 PMID:19240240 More... NCBI chr15:41,203,320...41,275,964
Ensembl chr15:41,202,518...41,275,794
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    Pathological Conditions, Signs and Symptoms 11989
      Pathologic Processes 7447
        Growth Disorders 968
          Insulin-Like Growth Factor I Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      nervous system disease 13186
        Neurologic Manifestations 9549
          sensory system disease 6580
            Otorhinolaryngologic Diseases 1663
              auditory system disease 942
                Hearing Disorders 766
                  Hearing Loss 761
                    sensorineural hearing loss 577
                      Insulin-Like Growth Factor I Deficiency 1
paths to the root