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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:hyperinsulinemic hypoglycemia
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Accession:DOID:13317 term browser browse the term
Definition:A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. (DO)
Synonyms:exact_synonym: PHHI;   PHHI hypoglycemia;   PHHI hypoglycemias;   autosomal recessive hyperinsulinism;   familial hyperinsulinism with pancreatic nesidioblastosis;   hyperinsulinemia hypoglycemia of infancy;   hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia;   hyperinsulinemic hypoglycemia of infancy;   infancy hyperinsulinemia hypoglycemia;   islet cell hyperplasia;   nesidioblastoses;   nesidioblastosis;   nesidioblastosis of pancreas;   pancreas nesidioblastoses;   pancreas nesidioblastosis;   pancreatic nesidioblastoses;   pancreatic nesidioblastosis;   persistent hyperinsulinemia, hypoglycemia of infancy;   persistent hyperinsulinemic hypoglycemia;   persistent hyperinsulinemic hypoglycemia of infancy;   persistent hyperinsulinemic hypoglycemias
 primary_id: MESH:D046768
 alt_id: MESH:C538567
 xref: ICD10CM:E16.9;   NCI:C122923;   NCI:C4375;   OMIM:PS256450
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
hyperinsulinemic hypoglycemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISS
ISO
OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021
ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Persistent Hyperinsulinemia Hypoglycemia of Infancy | ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
MouseDO
ClinVar
PMID:1021286 PMID:2198959 PMID:8650576 PMID:8751851 PMID:8923011 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Gck glucokinase ISS OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia | ClinVar Annotator: match by term: Islet cell hyperplasia | ClinVar Annotator: match by term: Nesidioblastosis ClinVar PMID:9867219 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
familial hyperinsulinemic hypoglycemia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar
PMID:1021286 PMID:2198959 PMID:7716548 PMID:8650576 PMID:8751851 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:15580558 PMID:15718250 PMID:16885549 PMID:17466004 PMID:18414213 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
familial hyperinsulinemic hypoglycemia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 ClinVar PMID:9867219 PMID:11872696 PMID:12196481 PMID:12475776 PMID:15579791 More... NCBI chr 1:96,598,663...96,679,495
Ensembl chr 1:96,598,647...96,679,510
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2 OMIM
ClinVar
PMID:7847376 PMID:8897013 PMID:8923010 PMID:9356020 PMID:9867219 More... NCBI chr 1:96,591,048...96,594,574
Ensembl chr 1:96,591,049...96,594,082
JBrowse link
familial hyperinsulinemic hypoglycemia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gck glucokinase ISO ClinVar Annotator: match by term: Hyperinsulinism due to glucokinase deficiency OMIM
ClinVar
PMID:7555485 PMID:8068341 PMID:8349034 PMID:8433729 PMID:8454109 More... NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
JBrowse link
familial hyperinsulinemic hypoglycemia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4 OMIM
ClinVar
PMID:904979 PMID:11489939 PMID:14693719 PMID:16725361 PMID:18414213 More... NCBI chr 2:219,787,935...219,830,335
Ensembl chr 2:219,787,927...219,830,353
JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinism due to glutamodehydrogenase deficiency ClinVar PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
familial hyperinsulinemic hypoglycemia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insr insulin receptor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 5 | ClinVar Annotator: match by term: Hyperinsulinism due to INSR deficiency OMIM
ClinVar
PMID:8288049 PMID:15161766 PMID:25741868 PMID:27896077 PMID:28492532 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
JBrowse link
familial hyperinsulinemic hypoglycemia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glud1 glutamate dehydrogenase 1 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome OMIM
ClinVar
PMID:9469993 PMID:9536098 PMID:9571225 PMID:9571255 PMID:9843361 More... NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:9,544,940...9,640,323
Ensembl chr16:9,548,660...9,639,965
JBrowse link
familial hyperinsulinemic hypoglycemia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc16a1 solute carrier family 16 member 1 ISO ClinVar Annotator: match by term: Exercise-induced hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 7 OMIM
ClinVar
PMID:11207177 PMID:17701893 PMID:18414213 PMID:19881260 PMID:25371203 More... NCBI chr 2:192,123,755...192,144,617
Ensembl chr 2:192,124,289...192,144,611
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      hyperinsulinism 561
        Congenital Hyperinsulinism 12
          hyperinsulinemic hypoglycemia 8
            familial hyperinsulinemic hypoglycemia 1 2
            familial hyperinsulinemic hypoglycemia 2 2
            familial hyperinsulinemic hypoglycemia 3 1
            familial hyperinsulinemic hypoglycemia 4 2
            familial hyperinsulinemic hypoglycemia 5 1
            familial hyperinsulinemic hypoglycemia 6 2
            familial hyperinsulinemic hypoglycemia 7 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              glucose metabolism disease 1874
                hyperinsulinism 561
                  Congenital Hyperinsulinism 12
                    hyperinsulinemic hypoglycemia 8
                      familial hyperinsulinemic hypoglycemia 1 2
                      familial hyperinsulinemic hypoglycemia 2 2
                      familial hyperinsulinemic hypoglycemia 3 1
                      familial hyperinsulinemic hypoglycemia 4 2
                      familial hyperinsulinemic hypoglycemia 5 1
                      familial hyperinsulinemic hypoglycemia 6 2
                      familial hyperinsulinemic hypoglycemia 7 1
paths to the root