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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:familial hyperinsulinemic hypoglycemia 1
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Accession:DOID:0070219 term browser browse the term
Definition:A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CONGENITAL ISOLATED HYPERINSULINISM;   HHF1;   HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA;   HYPERINSULINISM, CONGENITAL;   HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS;   HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY;   NESIDIOBLASTOSIS OF PANCREAS;   PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY;   PHHI
 xref: MIM:256450;   MONDO:0009734


show annotations for term's descendants           Sort by:
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: Congenital isolated hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 OMIM
ClinVar		 PMID:1021286 PMID:2198959 PMID:3202066 PMID:7716548 PMID:7908292 More... NCBI chr 1:105,734,992...105,816,272
Ensembl chr 1:105,734,992...105,815,982 		JBrowse link
G Andpro androgen regulated protein ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:157,171,739...157,178,262
Ensembl chr 3:157,171,740...157,178,104 		JBrowse link
G Banf2 BANF family member 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:151,841,506...151,896,205
Ensembl chr 3:151,853,911...151,896,204 		JBrowse link
G Bfsp1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:151,648,588...151,706,153
Ensembl chr 3:151,648,588...151,682,837 		JBrowse link
G Cd93 CD93 molecule ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,345,019...156,351,537
Ensembl chr 3:156,345,019...156,351,537 		JBrowse link
G Cfap61 cilia and flagella associated protein 61 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:153,807,672...154,086,591
Ensembl chr 3:153,807,735...154,086,590 		JBrowse link
G Crnkl1 crooked neck pre-mRNA splicing factor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:153,764,718...153,807,973
Ensembl chr 6:6,894,292...6,896,635
Ensembl chr 3:6,894,292...6,896,635 		JBrowse link
G Cst11 cystatin 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,664,551...156,667,275
Ensembl chr 3:156,664,551...156,667,275 		JBrowse link
G Cst3 cystatin C ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,790,061...156,794,116
Ensembl chr 3:156,790,079...156,793,937 		JBrowse link
G Cst5 cystatin D ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:158,033,791...158,038,345
Ensembl chr 3:158,033,791...158,038,345 		JBrowse link
G Cst8 cystatin 8 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,697,776...156,704,413
Ensembl chr 3:156,697,767...156,724,636 		JBrowse link
G Cst9l cystatin 9-like ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,741,232...156,744,045
Ensembl chr 3:156,741,232...156,744,045 		JBrowse link
G Cstl1 cystatin-like 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,652,967...156,658,049
Ensembl chr 3:156,653,052...156,658,049 		JBrowse link
G Dstn destrin, actin depolymerizing factor ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:151,737,711...151,764,752
Ensembl chr 3:151,737,849...151,764,769 		JBrowse link
G Dtd1 D-aminoacyl-tRNA deacylase 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:131,995,870...132,158,646
Ensembl chr 3:152,452,620...152,486,304 		JBrowse link
G Dzank1 double zinc ribbon and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,309,228...152,361,548
Ensembl chr 3:152,309,228...152,361,548 		JBrowse link
G Foxa2 forkhead box A2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:155,923,305...155,927,508
Ensembl chr 3:155,923,307...155,928,757 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:25741868 PMID:28492532 PMID:29280746 PMID:34055426 PMID:34547194 NCBI chr 2:222,462,049...222,504,446
Ensembl chr 2:222,462,049...222,504,446 		JBrowse link
G Insm1 INSM transcriptional repressor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:154,093,310...154,096,243
Ensembl chr 3:154,092,734...154,096,047 		JBrowse link
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,194,560...152,235,048
Ensembl chr 3:152,194,696...152,235,052 		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 1:105,727,473...105,731,167
Ensembl chr 1:105,727,570...105,731,169 		JBrowse link
G Kif16b kinesin family member 16B ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:150,428,233...150,707,755
Ensembl chr 3:150,366,838...150,707,770 		JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:154,730,873...154,838,410
Ensembl chr 3:154,730,634...154,838,410 		JBrowse link
G Mgme1 mitochondrial genome maintenance exonuclease 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,094,514...152,103,314
Ensembl chr 3:152,094,658...152,103,313 		JBrowse link
G Naa20 N(alpha)-acetyltransferase 20, NatB catalytic subunit ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:153,775,351...153,790,129
Ensembl chr 3:153,775,338...153,790,916 		JBrowse link
G Napb NSF attachment protein beta ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,585,394...156,632,418
Ensembl chr 3:156,585,394...156,632,418 		JBrowse link
G Nkx2-2 NK2 homeobox 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:155,072,621...155,083,699
Ensembl chr 3:155,073,250...155,083,249 		JBrowse link
G Nkx2-4 NK2 homeobox 4 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:154,968,252...154,970,300
Ensembl chr 3:154,967,598...154,969,917 		JBrowse link
G Nxt1 nuclear transport factor 2-like export factor 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,562,121...156,565,043
Ensembl chr 3:156,560,556...156,565,996 		JBrowse link
G Otor otoraplin ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:130,415,339...130,418,601
Ensembl chr 3:150,868,886...150,872,141 		JBrowse link
G Ovol2 ovo-like zinc finger 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,130,767...152,160,487
Ensembl chr 3:152,130,767...152,160,487 		JBrowse link
G Pax1 paired box 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:155,244,961...155,254,836
Ensembl chr 3:155,245,529...155,254,836 		JBrowse link
G Pcsk2 proprotein convertase subtilisin/kexin type 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:151,333,938...151,636,628
Ensembl chr 3:151,333,234...151,638,849 		JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,187,473...152,195,173
Ensembl chr 3:152,189,892...152,194,868 		JBrowse link
G Polr3f RNA polymerase III subunit F ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,361,798...152,378,169
Ensembl chr 3:152,361,798...152,378,168 		JBrowse link
G Ralgapa2 Ral GTPase activating protein catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:154,112,005...154,392,070
Ensembl chr 3:154,112,014...154,392,138 		JBrowse link
G Rbbp9 RB binding protein 9, serine hydrolase ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,378,426...152,392,370
Ensembl chr 3:152,378,699...152,385,489 		JBrowse link
G Rin2 Ras and Rab interactor 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:153,540,147...153,756,897
Ensembl chr 3:153,540,214...153,756,897 		JBrowse link
G Rrbp1 ribosome binding protein 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:151,768,386...151,830,255
Ensembl chr 3:151,768,386...151,830,255 		JBrowse link
G Scp2d1 SCP2 sterol-binding domain containing 1 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,655,282...152,656,032
Ensembl chr 3:152,627,292...152,757,474 		JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,392,340...152,434,813
Ensembl chr 3:152,392,308...152,434,800 		JBrowse link
G Slc24a3 solute carrier family 24 member 3 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:153,005,418...153,504,497
Ensembl chr 3:153,004,987...153,504,497 		JBrowse link
G Snrpb2 small nuclear ribonucleoprotein polypeptide B2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:150,852,814...150,862,364
Ensembl chr 3:150,852,790...150,863,428 		JBrowse link
G Snx5 sorting nexin 5 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,075,258...152,094,508
Ensembl chr 3:152,075,258...152,094,877 		JBrowse link
G Sstr4 somatostatin receptor 4 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,307,992...156,309,855
Ensembl chr 3:156,307,093...156,550,348 		JBrowse link
G Thbd thrombomodulin ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:156,316,526...156,320,178
Ensembl chr 3:156,306,632...156,320,582 		JBrowse link
G Xrn2 5'-3' exoribonuclease 2 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:154,888,558...154,962,519
Ensembl chr 3:154,890,061...154,962,486 		JBrowse link
G Zfp133 zinc finger protein 133 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:38605124 NCBI chr 3:152,282,744...152,300,892
Ensembl chr 3:152,282,735...152,300,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      hyperinsulinism 641
        Congenital Hyperinsulinism 58
          hyperinsulinemic hypoglycemia 55
            familial hyperinsulinemic hypoglycemia 1 49
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
                hypoglycemia 94
                  Congenital Hyperinsulinism 58
                    hyperinsulinemic hypoglycemia 55
                      familial hyperinsulinemic hypoglycemia 1 49
paths to the root