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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:Hyperproinsulinemia
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Accession:DOID:9003282 term browser browse the term
Synonyms:narrow_synonym: hyperproinsulinemia, familial
 related_synonym: insulin chicago;   insulin los angeles;   insulin wakayama;   proinsulin kyoto;   proinsulin providence
 primary_id: MESH:C562776;   RDO:0012350
 alt_id: OMIM:616214
For additional species annotation, visit the Alliance of Genome Resources.



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Hyperproinsulinemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ins1 insulin 1 ISO ClinVar Annotator: match by term: Proinsulin kyoto
ClinVar Annotator: match by term: Hyperproinsulinemia
ClinVar Annotator: match by term: Insulin wakayama
ClinVar Annotator: match by term: Proinsulin providence
ClinVar Annotator: match by term: Insulin los angeles
ClinVar Annotator: match by term: Insulin chicago
ClinVar Annotator: match by term: Hyperproinsulinemia, familial
ClinVar PMID:381941 PMID:1601997 PMID:2991050 PMID:3057496 PMID:3306677 More... NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
JBrowse link
G Ins2 insulin 2 ISO ClinVar Annotator: match by term: Proinsulin kyoto
ClinVar Annotator: match by term: Insulin chicago
ClinVar Annotator: match by term: Hyperproinsulinemia, familial
ClinVar Annotator: match by term: Insulin los angeles
ClinVar Annotator: match by term: Proinsulin providence
ClinVar Annotator: match by term: Insulin wakayama
ClinVar
OMIM
PMID:381941 PMID:1601997 PMID:2991050 PMID:3057496 PMID:3306677 More... NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Hyperproinsulinemia ClinVar PMID:25741868 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      endocrine system disease 5876
        diabetes mellitus 1409
          Hyperproinsulinemia 3
Path 2
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        acquired metabolic disease 2908
          carbohydrate metabolism disease 1803
            glucose metabolism disease 1803
              diabetes mellitus 1409
                Hyperproinsulinemia 3
paths to the root