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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:Congenital Hyperinsulinism
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Accession:DOID:9006828 term browser browse the term
Definition:A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8).
Synonyms:exact_synonym: Familial Hyperinsulinism;   Neonatal Hyperinsulinism;   Neonatal Hyperinsulinisms;   familial hyperinsulinisms
 narrow_synonym: KCNT2-RELATED CONDITION
 primary_id: MESH:D044903
 alt_id: RDO:0007511
 xref: NCI:C131425
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Congenital Hyperinsulinism 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: Familial hyperinsulinism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
ClinVar Annotator: match by term: Persistent hyperinsulinemic hypoglycemia of infancy
DNA:mutations:exon:multiple
DNA:missense mutations, nonsense mutations, splice-site mutations:CDS:multiple
DNA:missense mutations:exon:p.G1485E (c.4454G>A), p.D1506E (c.4518C>A), p.M1544K (c.4541T>A) (human)
DNA:mutations:exon, intron:multiple
DNA:deletion: :p.S1387del (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:256450
ClinVar Annotator: match by term: familial hyperinsulinism
ClinVar Annotator: match by term: Congenital Hyperinsulinism
ClinVar
CTD
PMID:7716548, PMID:8923011, PMID:9618169, PMID:9648840, PMID:9867219, PMID:10334322, PMID:10338089, PMID:10447255, PMID:10487673, PMID:10685980, PMID:10720932, PMID:10923633, PMID:11226335, PMID:11272143, PMID:11318841, PMID:11872696, PMID:11999683, PMID:12196481, PMID:12475776, PMID:12784138, PMID:12941782, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15356046, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16186397, PMID:16357843, PMID:16416420, PMID:16429405, PMID:16455067, PMID:16595597, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17257281, PMID:17378627, PMID:17384337, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17466004, PMID:17575084, PMID:17668386, PMID:17823772, PMID:18025408, PMID:18339976, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18758683, PMID:18988933, PMID:19214942, PMID:19233137, PMID:19475716, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:20427569, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20943781, PMID:21378087, PMID:21716120, PMID:21851374, PMID:21992908, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22802590, PMID:22855730, PMID:22992668, PMID:23067144, PMID:23261959, PMID:23275527, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23771172, PMID:24145932, PMID:24401662, PMID:24442125, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24937539, PMID:25115353, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25741868, PMID:25781672, PMID:25972930, PMID:26180531, PMID:26467025, PMID:27175728, PMID:27188453, PMID:27573238, PMID:27682711, PMID:27754802, PMID:27810688, PMID:28442472, PMID:28492532, PMID:29681852, PMID:30352420, PMID:30462810, PMID:7716548, PMID:23506826, PMID:23652837, PMID:20573158, PMID:16429405, PMID:24401662, PMID:21422196, PMID:18596924 RGD:704365, RGD:12790723, RGD:11069847, RGD:12790596, RGD:11067821, RGD:12790587, RGD:11070657, RGD:12743628 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15277402 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO RGD PMID:9571255 RGD:1302513 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Hadh hydroxyacyl-CoA dehydrogenase ISO DNA:deletion:cds (human) RGD PMID:14693719 RGD:2306664 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
JBrowse link
G Hnf4a hepatocyte nuclear factor 4, alpha ISO DNA:mutations: :
ClinVar Annotator: match by term: Familial hyperinsulinism
ClinVar PMID:10227563, PMID:10768098, PMID:10983627, PMID:15281001, PMID:15793260, PMID:15928245, PMID:16883527, PMID:16946562, PMID:18414213, PMID:21105491, PMID:22140441, PMID:22232426, PMID:23247789, PMID:24033266, PMID:24097065, PMID:25041077, PMID:25631608, PMID:25741868, PMID:26059258, PMID:26467025, PMID:26512799, PMID:26740944, PMID:27080136, PMID:27420379, PMID:28492532, PMID:20164212 RGD:12904701 NCBI chr 3:159,902,441...159,965,003
Ensembl chr 3:159,902,441...159,965,003
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL
DNA:SNPs:exon:c.151G>T, c.1017G>T (human)
DNA:missense mutations, frameshift mutations:CDS:multiple
DNA:deletion, frameshift mutation, missense mutations:exon:multiple
DNA:deletion, insertion:exon
DNA:missense mutation:exon:p.R34H (c.101G>A) (human)
CTD
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852, PMID:23506826, PMID:23652837, PMID:24401662, PMID:17316607, PMID:24421282 RGD:12790723, RGD:11069847, RGD:12790587, RGD:12743643, RGD:12743624 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
JBrowse link
G Kcnt2 potassium sodium-activated channel subfamily T member 2 ISO ClinVar Annotator: match by term: KCNT2-related condition ClinVar PMID:29069600 NCBI chr13:57,130,855...57,520,263
Ensembl chr13:57,131,395...57,521,836
JBrowse link
G Tbc1d4 TBC1 domain family, member 4 ISO RGD PMID:19470471 RGD:7248544 NCBI chr15:85,927,978...86,105,829
Ensembl chr15:85,930,044...86,105,273
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:7716548, PMID:8650576, PMID:8751851, PMID:8923011, PMID:9075812, PMID:9382893, PMID:9519757, PMID:9568693, PMID:9618169, PMID:9642650, PMID:9648840, PMID:9769320, PMID:10202168, PMID:10204114, PMID:10334322, PMID:10338089, PMID:10400694, PMID:10426386, PMID:10447255, PMID:10487673, PMID:10615958, PMID:10685980, PMID:10720932, PMID:10923633, PMID:10993895, PMID:11018078, PMID:11226335, PMID:11272143, PMID:11395395, PMID:11457841, PMID:11697420, PMID:11867634, PMID:11999683, PMID:12169627, PMID:12199344, PMID:12364426, PMID:12559865, PMID:12627323, PMID:12784138, PMID:12941782, PMID:14593442, PMID:14692646, PMID:14715863, PMID:14764815, PMID:15111507, PMID:15356046, PMID:15561897, PMID:15562009, PMID:15579781, PMID:15807877, PMID:15842514, PMID:16186397, PMID:16357843, PMID:16380471, PMID:16416420, PMID:16429405, PMID:16442101, PMID:16860127, PMID:16969006, PMID:17236890, PMID:17378627, PMID:17384337, PMID:17466004, PMID:17539904, PMID:17575084, PMID:17668386, PMID:17919176, PMID:17990484, PMID:18025408, PMID:18073294, PMID:18339976, PMID:18346985, PMID:18390792, PMID:18414213, PMID:18436707, PMID:18493152, PMID:18596924, PMID:18599530, PMID:18758683, PMID:18767144, PMID:18988933, PMID:19151370, PMID:19475716, PMID:20042013, PMID:20427569, PMID:20432820, PMID:20573158, PMID:20672374, PMID:20685672, PMID:20799350, PMID:20849526, PMID:20922570, PMID:20943779, PMID:20943781, PMID:21109997, PMID:21214702, PMID:21321069, PMID:21378087, PMID:21411514, PMID:21422196, PMID:21544516, PMID:21617188, PMID:21674179, PMID:21716120, PMID:21851374, PMID:21968111, PMID:21978130, PMID:21992908, PMID:22210575, PMID:22308858, PMID:22562119, PMID:22662265, PMID:22704848, PMID:22796691, PMID:22802590, PMID:22855730, PMID:22876564, PMID:22902787, PMID:23067144, PMID:23226049, PMID:23261959, PMID:23266803, PMID:23273570, PMID:23275527, PMID:23301914, PMID:23345197, PMID:23506826, PMID:23652837, PMID:23744072, PMID:23771172, PMID:23771920, PMID:23798684, PMID:23903354, PMID:24033266, PMID:24044690, PMID:24072082, PMID:24080777, PMID:24145932, PMID:24332968, PMID:24401662, PMID:24411943, PMID:24434300, PMID:24616771, PMID:24645945, PMID:24686051, PMID:24750227, PMID:24768178, PMID:24814349, PMID:24937539, PMID:24959012, PMID:25008049, PMID:25117148, PMID:25201519, PMID:25306193, PMID:25323548, PMID:25518065, PMID:25525159, PMID:25555642, PMID:25584046, PMID:25639667, PMID:25720052, PMID:25741868, PMID:25765446, PMID:25781672, PMID:25931474, PMID:25955821, PMID:25972930, PMID:26180531, PMID:26208381, PMID:26246406, PMID:26268944, PMID:26316440, PMID:26379717, PMID:26431509, PMID:26467025, PMID:26545876, PMID:26594346, PMID:26740944, PMID:26758964, PMID:26839896, PMID:27175728, PMID:27188453, PMID:27313609, PMID:27573238, PMID:27682711, PMID:27691052, PMID:27754802, PMID:27810688, PMID:27889714, PMID:27908292, PMID:28018462, PMID:28095440, PMID:28270372, PMID:28346775, PMID:28442472, PMID:28492532, PMID:28529015, PMID:28701683, PMID:29207974, PMID:29216354, PMID:29644095, PMID:30186238, PMID:30297969, PMID:30352420, PMID:30386300, PMID:30447144, PMID:30462810, PMID:31604004 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1 ClinVar PMID:18414213, PMID:25741868, PMID:28492532 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
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:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia familial 3
ClinVar Annotator: match by OMIM:602485
OMIM
ClinVar
PMID:7555485, PMID:8068341, PMID:8349034, PMID:8433729, PMID:8454109, PMID:9435328, PMID:9469993, PMID:10447526, PMID:11315850, PMID:11315851, PMID:11916951, PMID:11942313, PMID:12442280, PMID:12627330, PMID:14517946, PMID:14517956, PMID:15277402, PMID:15305805, PMID:15841481, PMID:15918042, PMID:15928245, PMID:16963153, PMID:16965331, PMID:17573900, PMID:18271687, PMID:19790256, PMID:20132997, PMID:21604084, PMID:22493702, PMID:22611063, PMID:24097065, PMID:24518839, PMID:24728127, PMID:25015100, PMID:25741868, PMID:25850297, PMID:26467025, PMID:28492532 NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
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 OMIM:609975
ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 4
ClinVar
OMIM
PMID:904979, PMID:11489939, PMID:14693719, PMID:19318379, PMID:21252247, PMID:22662265, PMID:23273570, PMID:25741868, PMID:27104957, PMID:28492532 NCBI chr 2:236,353,445...236,395,067
Ensembl chr 2:236,353,445...236,395,067
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 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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 OMIM:609968 OMIM
ClinVar
PMID:8288049, PMID:15161766, PMID:25741868, PMID:27896077 NCBI chr12:1,682,527...1,816,414
Ensembl chr12:1,680,957...1,816,414
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
ClinVar Annotator: match by OMIM:606762
OMIM
ClinVar
PMID:9469993, PMID:9571255, PMID:9843361, PMID:10636977, PMID:10871207, PMID:11214910, PMID:18414213, PMID:18928469, PMID:19046187, PMID:23869231, PMID:25008049, PMID:25741868, PMID:26467025, PMID:26759084, PMID:27188453, PMID:28165182, PMID:28492532, PMID:30306091, PMID:30352420, PMID:30425915 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Shld2 shieldin complex subunit 2 ISO ClinVar Annotator: match by term: Hyperinsulinism-hyperammonemia syndrome ClinVar PMID:25741868, PMID:28492532 NCBI chr16:10,570,307...10,661,528
Ensembl chr16:10,570,314...10,661,528
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: Exercise-induced hyperinsulinemic hypoglycemia
ClinVar Annotator: match by OMIM:610021
OMIM
ClinVar
PMID:11207177, PMID:17701893, PMID:18414213, PMID:19881260, PMID:25371203, PMID:25741868, PMID:25741869, PMID:26595136, PMID:28492532 NCBI chr 2:207,108,552...207,129,352
Ensembl chr 2:207,108,552...207,128,554
JBrowse link
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: Nesidioblastosis
MouseDO
ClinVar
PMID:9867219, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:15579791, PMID:15797964, PMID:15855351, PMID:16455067, PMID:16595597, PMID:17257281, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17823772, PMID:18414213, PMID:18758683, PMID:19214942, PMID:19233137, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20424228, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22385882, PMID:22704848, PMID:22992668, PMID:24442125, PMID:25115353, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29681852 NCBI chr 1:102,110,708...102,191,287
Ensembl chr 1:102,110,708...102,191,287
JBrowse link
G Gck glucokinase ISS OMIM:256450 | OMIM:601820 | OMIM:602485 | OMIM:606762 | OMIM:609968 | OMIM:609975 | OMIM:610021 MouseDO NCBI chr14:86,149,146...86,191,589
Ensembl chr14:86,148,928...86,190,659
JBrowse link
G Kcnj11 potassium inwardly-rectifying channel, subfamily J, member 11 ISO ClinVar Annotator: match by term: Islet cell hyperplasia
ClinVar Annotator: match by term: Nesidioblastosis
ClinVar PMID:7847376, PMID:8897013, PMID:8923010, PMID:9356020, PMID:9867219, PMID:10338089, PMID:11318841, PMID:11872696, PMID:12196481, PMID:12475776, PMID:14551916, PMID:14715863, PMID:14871556, PMID:15115830, PMID:15504982, PMID:15562009, PMID:15579781, PMID:15579791, PMID:15797964, PMID:15855351, PMID:15998776, PMID:16416420, PMID:16455067, PMID:16595597, PMID:16670688, PMID:16982483, PMID:17257281, PMID:17316607, PMID:17463246, PMID:17463248, PMID:17463249, PMID:17673911, PMID:17823772, PMID:18250167, PMID:18290324, PMID:18414213, PMID:18596924, PMID:18758683, PMID:18767144, PMID:19214942, PMID:19233137, PMID:19254908, PMID:19357197, PMID:19491206, PMID:19498446, PMID:19578796, PMID:19587354, PMID:19685080, PMID:20049716, PMID:20424228, PMID:20589481, PMID:20685672, PMID:21115269, PMID:21119644, PMID:21765448, PMID:22082043, PMID:22163043, PMID:22209866, PMID:22264780, PMID:22311976, PMID:22385882, PMID:22471336, PMID:22512215, PMID:22704848, PMID:22958899, PMID:22992668, PMID:23275527, PMID:23345197, PMID:24434300, PMID:24442125, PMID:24698822, PMID:25115353, PMID:25637631, PMID:25639667, PMID:25741868, PMID:25871929, PMID:25972930, PMID:26467025, PMID:26545876, PMID:26740944, PMID:27065949, PMID:28492532, PMID:29681852 NCBI chr 1:102,103,093...102,107,134
Ensembl chr 1:102,103,094...102,106,127
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      hyperinsulinism 561
        Congenital Hyperinsulinism 11
          hyperinsulinemic hypoglycemia + 8
Path 2
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        acquired metabolic disease 2792
          carbohydrate metabolism disease 1763
            glucose metabolism disease 1763
              hyperinsulinism 561
                Congenital Hyperinsulinism 11
                  hyperinsulinemic hypoglycemia + 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.