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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
 xref: EFO:0009650;   MESH:C562776;   MIM:616214;   MONDO:0014535


show annotations for term's descendants           Sort by:
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: Hyperproinsulinemia ClinVar PMID:381941 PMID:1601997 PMID:2196279 PMID:2991050 PMID:3057496 More... NCBI chr 1:261,186,119...261,186,686
Ensembl chr 1:261,186,119...261,186,682 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperproinsulinemia 		OMIM
CTD
ClinVar		 PMID:381941 PMID:1601997 PMID:2196279 PMID:2991050 PMID:3057496 More... NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:207,272,742...207,273,805 		JBrowse link
G Th tyrosine hydroxylase ISO ClinVar Annotator: match by term: Hyperproinsulinemia ClinVar PMID:25741868 PMID:33953728 NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:207,500,962...207,557,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        diabetes mellitus 1683
          Hyperproinsulinemia 3
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              glucose metabolism disease 2176
                diabetes mellitus 1683
                  Hyperproinsulinemia 3
paths to the root