Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal circulating carbohydrate concentration (HP:0011013)help
Parent Node:
expand
Abnormal circulating insulin level (HP:0040215)help
Parent Node:
expand
Abnormal glucose homeostasis (HP:0011014)help
..Starting node
..expand
Hyperinsulinemia (HP:0000842)help
Term ID: 842
Name: Hyperinsulinemia
Synonym: Elevated insulin level
Definition: An increased concentration of insulin in the blood.
Comments:
Reference: HP:0000842
Genes and Diseases:
 
       Child Nodes:
........expandHyperinsulinemic hypoglycemia (HP:0000825) help
........expandFasting hyperinsulinemia (HP:0008283) help

 Sister Nodes: 
..expandAbnormal blood glucose concentration (HP:0011015) help
..expandAbnormal C-peptide level (HP:0030794) help
..expandAbnormality of urine glucose concentration (HP:0011016) help
..expandDiabetes mellitus (HP:0000819) help
..expandGlucose intolerance (HP:0001952) help
..expandImpaired gluconeogenesis (HP:0005959) help
..expandIncreased proinsulin:insulin ratio (HP:0031883) help
..expandInsulin insensitivity (HP:0008189) help
..expandInsulin resistance (HP:0000855) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000842HP:0000842Hyperinsulinemia0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1276034601691
HP:0000842HP:0000842Hyperinsulinemia0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143926147615900
HP:0000842HP:0000842Hyperinsulinemia0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0000842HP:0000842Hyperinsulinemia0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0000842HP:0000842Hyperinsulinemia0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA192221575608894
HP:0000842HP:0000842Hyperinsulinemia0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1354348600253
HP:0000842HP:0000842Hyperinsulinemia0ALMS1 CL E G H784064ORPHA14321428606844
HP:0000842HP:0000842Hyperinsulinemia0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0000842HP:0000842Hyperinsulinemia0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165017090616432
HP:0000842HP:0000842Hyperinsulinemia0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18717146615407
HP:0000842HP:0000842Hyperinsulinemia0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1106694604695
HP:0000842HP:0000842Hyperinsulinemia0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115913210608845
HP:0000842HP:0000842Hyperinsulinemia0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1712967606151
HP:0000842HP:0000842Hyperinsulinemia0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166812703607854
HP:0000842HP:0000842Hyperinsulinemia0BSCL2 CL E G H26580363400ORPHA143515832606158
HP:0000842HP:0000842Hyperinsulinemia0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0000842HP:0000842Hyperinsulinemia0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0000842HP:0000842Hyperinsulinemia0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000842HP:0000842Hyperinsulinemia0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12251375114760
HP:0000842HP:0000842Hyperinsulinemia0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0000842HP:0000842Hyperinsulinemia0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0000842HP:0000842Hyperinsulinemia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000842HP:0000842Hyperinsulinemia0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA170414550609502
HP:0000842HP:0000842Hyperinsulinemia0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160721699608381
HP:0000842HP:0000842Hyperinsulinemia0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129612605606397
HP:0000842HP:0000842Hyperinsulinemia0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13362148123825
HP:0000842HP:0000842Hyperinsulinemia0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19432151600724
HP:0000842HP:0000842Hyperinsulinemia0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112742343604210
HP:0000842HP:0000842Hyperinsulinemia0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14422383602225
HP:0000842HP:0000842Hyperinsulinemia0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131820603608172
HP:0000842HP:0000842Hyperinsulinemia0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA157517211605584
HP:0000842HP:0000842Hyperinsulinemia0DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0000842HP:0000842Hyperinsulinemia0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000842HP:0000842Hyperinsulinemia0ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11913467133430
HP:0000842HP:0000842Hyperinsulinemia0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1298421555612424
HP:0000842HP:0000842Hyperinsulinemia0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153225808613596
HP:0000842HP:0000842Hyperinsulinemia0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0000842HP:0000842Hyperinsulinemia0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14533960607643
HP:0000842HP:0000842Hyperinsulinemia0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11844679602275
HP:0000842HP:0000842Hyperinsulinemia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0000842HP:0000842Hyperinsulinemia0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA184326527610453
HP:0000842HP:0000842Hyperinsulinemia0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12365385604526
HP:0000842HP:0000842Hyperinsulinemia0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1128429077614620
HP:0000842HP:0000842Hyperinsulinemia0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198930391607386
HP:0000842HP:0000842Hyperinsulinemia0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117420606600595
HP:0000842HP:0000842Hyperinsulinemia0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14276052146690
HP:0000842HP:0000842Hyperinsulinemia0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA170918362607056
HP:0000842HP:0000842Hyperinsulinemia0INSR CL E G H3643508Acroosteolysis dominant typeORPHA15536091147670
HP:0000842HP:0000842Hyperinsulinemia0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM15536091147670
HP:0000842HP:0000842Hyperinsulinemia0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15536091147670
HP:0000842HP:0000842Hyperinsulinemia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0000842HP:0000842Hyperinsulinemia0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198322219613344
HP:0000842HP:0000842Hyperinsulinemia0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130915865615757
HP:0000842HP:0000842Hyperinsulinemia0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125815646611119
HP:0000842HP:0000842Hyperinsulinemia0LEP CL E G H395266628ORPHA11186553164160
HP:0000842HP:0000842Hyperinsulinemia0LEPR CL E G H3953179494ORPHA12226554601007
HP:0000842HP:0000842Hyperinsulinemia0LMNA CL E G H400079084ORPHA116226636150330
HP:0000842HP:0000842Hyperinsulinemia0LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0000842HP:0000842Hyperinsulinemia0LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0000842HP:0000842Hyperinsulinemia0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0000842HP:0000842Hyperinsulinemia0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12126685604863
HP:0000842HP:0000842Hyperinsulinemia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0000842HP:0000842Hyperinsulinemia0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13506816154235
HP:0000842HP:0000842Hyperinsulinemia0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16547027604705
HP:0000842HP:0000842Hyperinsulinemia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0000842HP:0000842Hyperinsulinemia0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000842HP:0000842Hyperinsulinemia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0000842HP:0000842Hyperinsulinemia0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11467745604043
HP:0000842HP:0000842Hyperinsulinemia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0000842HP:0000842Hyperinsulinemia0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15047974604485
HP:0000842HP:0000842Hyperinsulinemia0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12418002162080
HP:0000842HP:0000842Hyperinsulinemia0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17892567300170
HP:0000842HP:0000842Hyperinsulinemia0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA184934383613425
HP:0000842HP:0000842Hyperinsulinemia0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16728785180071
HP:0000842HP:0000842Hyperinsulinemia0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19588786180072
HP:0000842HP:0000842Hyperinsulinemia0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1958789180073
HP:0000842HP:0000842Hyperinsulinemia0PLIN1 CL E G H5346280356ORPHA11019076170290
HP:0000842HP:0000842Hyperinsulinemia0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA194319139606822
HP:0000842HP:0000842Hyperinsulinemia0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0000842HP:0000842Hyperinsulinemia0PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0000842HP:0000842Hyperinsulinemia0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111732528610598
HP:0000842HP:0000842Hyperinsulinemia0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17449454604365
HP:0000842HP:0000842Hyperinsulinemia0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124517348607301
HP:0000842HP:0000842Hyperinsulinemia0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149715446606419
HP:0000842HP:0000842Hyperinsulinemia0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA122117349607795
HP:0000842HP:0000842Hyperinsulinemia0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145115860613979
HP:0000842HP:0000842Hyperinsulinemia0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA193017340607300
HP:0000842HP:0000842Hyperinsulinemia0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16189942179605
HP:0000842HP:0000842Hyperinsulinemia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0000842HP:0000842Hyperinsulinemia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0000842HP:0000842Hyperinsulinemia0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18339921180290
HP:0000842HP:0000842Hyperinsulinemia0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA138219977608830
HP:0000842HP:0000842Hyperinsulinemia0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121530078609346
HP:0000842HP:0000842Hyperinsulinemia0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12299990600342
HP:0000842HP:0000842Hyperinsulinemia0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147410012180380
HP:0000842HP:0000842Hyperinsulinemia0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126610024180090
HP:0000842HP:0000842Hyperinsulinemia0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124210254180721
HP:0000842HP:0000842Hyperinsulinemia0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1103710263603937
HP:0000842HP:0000842Hyperinsulinemia0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141710274300757
HP:0000842HP:0000842Hyperinsulinemia0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16610288607331
HP:0000842HP:0000842Hyperinsulinemia0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165810294180069
HP:0000842HP:0000842Hyperinsulinemia0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198510295312610
HP:0000842HP:0000842Hyperinsulinemia0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133110521181031
HP:0000842HP:0000842Hyperinsulinemia0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19413081611611
HP:0000842HP:0000842Hyperinsulinemia0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA138610729607292
HP:0000842HP:0000842Hyperinsulinemia0SH2B1 CL E G H25970329249ORPHA120430417608937
HP:0000842HP:0000842Hyperinsulinemia0SIM1 CL E G H6492369873ORPHA116610882603128
HP:0000842HP:0000842Hyperinsulinemia0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135229326615720
HP:0000842HP:0000842Hyperinsulinemia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM129733020609837
HP:0000842HP:0000842Hyperinsulinemia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM129733067605436
HP:0000842HP:0000842Hyperinsulinemia0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180730859601664
HP:0000842HP:0000842Hyperinsulinemia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM137711164182279
HP:0000842HP:0000842Hyperinsulinemia0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133220423609868
HP:0000842HP:0000842Hyperinsulinemia0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143821653609507
HP:0000842HP:0000842Hyperinsulinemia0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132020087608132
HP:0000842HP:0000842Hyperinsulinemia0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135612406601197
HP:0000842HP:0000842Hyperinsulinemia0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147212423602280
HP:0000842HP:0000842Hyperinsulinemia0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1560512601608400
HP:0000842HP:0000842Hyperinsulinemia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0000842HP:0000842Hyperinsulinemia0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM117612877606480
HP:0000842HP:0000842Hyperinsulinemia0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136920041616454
HP:0000842HP:0000842Hyperinsulinemia0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129026498613598
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1276034601691
HP:0000842HP:0008283Fasting hyperinsulinemia1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1276034601691
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143926147615900
HP:0000842HP:0008283Fasting hyperinsulinemia1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143926147615900
HP:0000842HP:0008283Fasting hyperinsulinemia1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1213325603100
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0000842HP:0008283Fasting hyperinsulinemia1AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM1213325603100
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA192221575608894
HP:0000842HP:0008283Fasting hyperinsulinemia1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA192221575608894
HP:0000842HP:0008283Fasting hyperinsulinemia1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1354348600253
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1354348600253
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ALMS1 CL E G H784064ORPHA14321428606844
HP:0000842HP:0008283Fasting hyperinsulinemia1ALMS1 CL E G H784064ORPHA14321428606844
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0000842HP:0008283Fasting hyperinsulinemia1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM14321428606844
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165017090616432
HP:0000842HP:0008283Fasting hyperinsulinemia1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165017090616432
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18717146615407
HP:0000842HP:0008283Fasting hyperinsulinemia1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18717146615407
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1106694604695
HP:0000842HP:0008283Fasting hyperinsulinemia1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1106694604695
HP:0000842HP:0008283Fasting hyperinsulinemia1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115913210608845
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115913210608845
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1712967606151
HP:0000842HP:0008283Fasting hyperinsulinemia1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1712967606151
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166812703607854
HP:0000842HP:0008283Fasting hyperinsulinemia1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA166812703607854
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1BSCL2 CL E G H26580363400ORPHA143515832606158
HP:0000842HP:0008283Fasting hyperinsulinemia1BSCL2 CL E G H26580363400ORPHA143515832606158
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0000842HP:0008283Fasting hyperinsulinemia1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA143515832606158
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0000842HP:0008283Fasting hyperinsulinemia1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM143515832606158
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000842HP:0008283Fasting hyperinsulinemia1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000842HP:0008283Fasting hyperinsulinemia1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12251375114760
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12251375114760
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0000842HP:0008283Fasting hyperinsulinemia1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11151527601047
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0000842HP:0008283Fasting hyperinsulinemia1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11129688603198
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000842HP:0008283Fasting hyperinsulinemia1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA170414550609502
HP:0000842HP:0008283Fasting hyperinsulinemia1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA170414550609502
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160721699608381
HP:0000842HP:0008283Fasting hyperinsulinemia1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160721699608381
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129612605606397
HP:0000842HP:0008283Fasting hyperinsulinemia1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129612605606397
HP:0000842HP:0008283Fasting hyperinsulinemia1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13362148123825
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13362148123825
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19432151600724
HP:0000842HP:0008283Fasting hyperinsulinemia1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19432151600724
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112742343604210
HP:0000842HP:0008283Fasting hyperinsulinemia1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA112742343604210
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14422383602225
HP:0000842HP:0008283Fasting hyperinsulinemia1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14422383602225
HP:0000842HP:0008283Fasting hyperinsulinemia1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131820603608172
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131820603608172
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA157517211605584
HP:0000842HP:0008283Fasting hyperinsulinemia1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA157517211605584
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0000842HP:0008283Fasting hyperinsulinemia1DIS3L2 CL E G H1295632849ORPHA1171428648614184
HP:0000842HP:0008283Fasting hyperinsulinemia1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000842HP:0008283Fasting hyperinsulinemia1ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11913467133430
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11913467133430
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1298421555612424
HP:0000842HP:0008283Fasting hyperinsulinemia1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1298421555612424
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153225808613596
HP:0000842HP:0008283Fasting hyperinsulinemia1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153225808613596
HP:0000842HP:0008283Fasting hyperinsulinemia1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1293796164810
HP:0000842HP:0008283Fasting hyperinsulinemia1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14533960607643
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14533960607643
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11844679602275
HP:0000842HP:0008283Fasting hyperinsulinemia1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11844679602275
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0000842HP:0008283Fasting hyperinsulinemia1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM16414868605837
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA184326527610453
HP:0000842HP:0008283Fasting hyperinsulinemia1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA184326527610453
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12365385604526
HP:0000842HP:0008283Fasting hyperinsulinemia1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12365385604526
HP:0000842HP:0008283Fasting hyperinsulinemia1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1128429077614620
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1128429077614620
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198930391607386
HP:0000842HP:0008283Fasting hyperinsulinemia1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198930391607386
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117420606600595
HP:0000842HP:0008283Fasting hyperinsulinemia1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA117420606600595
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14276052146690
HP:0000842HP:0008283Fasting hyperinsulinemia1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14276052146690
HP:0000842HP:0008283Fasting hyperinsulinemia1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA170918362607056
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA170918362607056
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1INSR CL E G H3643508Acroosteolysis dominant typeORPHA15536091147670
HP:0000842HP:0008283Fasting hyperinsulinemia1INSR CL E G H3643508Acroosteolysis dominant typeORPHA15536091147670
HP:0000842HP:0008283Fasting hyperinsulinemia1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM15536091147670
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM15536091147670
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15536091147670
HP:0000842HP:0008283Fasting hyperinsulinemia1INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM15536091147670
HP:0000842HP:0008283Fasting hyperinsulinemia1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM12946109601491
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198322219613344
HP:0000842HP:0008283Fasting hyperinsulinemia1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198322219613344
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130915865615757
HP:0000842HP:0008283Fasting hyperinsulinemia1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130915865615757
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125815646611119
HP:0000842HP:0008283Fasting hyperinsulinemia1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA125815646611119
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1LEP CL E G H395266628ORPHA11186553164160
HP:0000842HP:0008283Fasting hyperinsulinemia1LEP CL E G H395266628ORPHA11186553164160
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1LEPR CL E G H3953179494ORPHA12226554601007
HP:0000842HP:0008283Fasting hyperinsulinemia1LEPR CL E G H3953179494ORPHA12226554601007
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1LMNA CL E G H400079084ORPHA116226636150330
HP:0000842HP:0008283Fasting hyperinsulinemia1LMNA CL E G H400079084ORPHA116226636150330
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0000842HP:0008283Fasting hyperinsulinemia1LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0000842HP:0008283Fasting hyperinsulinemia1LMNA CL E G H4000151660Familial partial lipodystrophy 2151660C1720860OMIM116226636150330
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0000842HP:0008283Fasting hyperinsulinemia1LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM116226636150330
HP:0000842HP:0008283Fasting hyperinsulinemia1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12126685604863
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12126685604863
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0000842HP:0008283Fasting hyperinsulinemia1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM16206814605283
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13506816154235
HP:0000842HP:0008283Fasting hyperinsulinemia1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13506816154235
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16547027604705
HP:0000842HP:0008283Fasting hyperinsulinemia1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16547027604705
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0000842HP:0008283Fasting hyperinsulinemia1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13227114603856
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000842HP:0008283Fasting hyperinsulinemia1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000842HP:0008283Fasting hyperinsulinemia1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13037675602117
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11467745604043
HP:0000842HP:0008283Fasting hyperinsulinemia1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11467745604043
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0000842HP:0008283Fasting hyperinsulinemia1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13271190610922
HP:0000842HP:0008283Fasting hyperinsulinemia1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15047974604485
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15047974604485
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12418002162080
HP:0000842HP:0008283Fasting hyperinsulinemia1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12418002162080
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17892567300170
HP:0000842HP:0008283Fasting hyperinsulinemia1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17892567300170
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA184934383613425
HP:0000842HP:0008283Fasting hyperinsulinemia1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA184934383613425
HP:0000842HP:0008283Fasting hyperinsulinemia1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16728785180071
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16728785180071
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19588786180072
HP:0000842HP:0008283Fasting hyperinsulinemia1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19588786180072
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1958789180073
HP:0000842HP:0008283Fasting hyperinsulinemia1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1958789180073
HP:0000842HP:0008283Fasting hyperinsulinemia1PLIN1 CL E G H5346280356ORPHA11019076170290
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PLIN1 CL E G H5346280356ORPHA11019076170290
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA194319139606822
HP:0000842HP:0008283Fasting hyperinsulinemia1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA194319139606822
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0000842HP:0008283Fasting hyperinsulinemia1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11399236601487
HP:0000842HP:0008283Fasting hyperinsulinemia1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PPARG CL E G H5468604367Familial partial lipodystrophy 3604367C1720861OMIM11399236601487
HP:0000842HP:0008283Fasting hyperinsulinemia1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111732528610598
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111732528610598
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17449454604365
HP:0000842HP:0008283Fasting hyperinsulinemia1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17449454604365
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124517348607301
HP:0000842HP:0008283Fasting hyperinsulinemia1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124517348607301
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149715446606419
HP:0000842HP:0008283Fasting hyperinsulinemia1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149715446606419
HP:0000842HP:0008283Fasting hyperinsulinemia1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA122117349607795
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA122117349607795
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145115860613979
HP:0000842HP:0008283Fasting hyperinsulinemia1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA145115860613979
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA193017340607300
HP:0000842HP:0008283Fasting hyperinsulinemia1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA193017340607300
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16189942179605
HP:0000842HP:0008283Fasting hyperinsulinemia1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16189942179605
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0000842HP:0008283Fasting hyperinsulinemia1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM129530089600161
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0000842HP:0008283Fasting hyperinsulinemia1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM130533235611215
HP:0000842HP:0008283Fasting hyperinsulinemia1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18339921180290
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18339921180290
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA138219977608830
HP:0000842HP:0008283Fasting hyperinsulinemia1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA138219977608830
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121530078609346
HP:0000842HP:0008283Fasting hyperinsulinemia1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA121530078609346
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12299990600342
HP:0000842HP:0008283Fasting hyperinsulinemia1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12299990600342
HP:0000842HP:0008283Fasting hyperinsulinemia1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147410012180380
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147410012180380
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126610024180090
HP:0000842HP:0008283Fasting hyperinsulinemia1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126610024180090
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124210254180721
HP:0000842HP:0008283Fasting hyperinsulinemia1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA124210254180721
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1103710263603937
HP:0000842HP:0008283Fasting hyperinsulinemia1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1103710263603937
HP:0000842HP:0008283Fasting hyperinsulinemia1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141710274300757
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141710274300757
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16610288607331
HP:0000842HP:0008283Fasting hyperinsulinemia1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16610288607331
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165810294180069
HP:0000842HP:0008283Fasting hyperinsulinemia1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA165810294180069
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198510295312610
HP:0000842HP:0008283Fasting hyperinsulinemia1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA198510295312610
HP:0000842HP:0008283Fasting hyperinsulinemia1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133110521181031
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133110521181031
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19413081611611
HP:0000842HP:0008283Fasting hyperinsulinemia1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19413081611611
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA138610729607292
HP:0000842HP:0008283Fasting hyperinsulinemia1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA138610729607292
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SH2B1 CL E G H25970329249ORPHA120430417608937
HP:0000842HP:0008283Fasting hyperinsulinemia1SH2B1 CL E G H25970329249ORPHA120430417608937
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SIM1 CL E G H6492369873ORPHA116610882603128
HP:0000842HP:0008283Fasting hyperinsulinemia1SIM1 CL E G H6492369873ORPHA116610882603128
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135229326615720
HP:0000842HP:0008283Fasting hyperinsulinemia1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135229326615720
HP:0000842HP:0008283Fasting hyperinsulinemia1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM129733020609837
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM129733020609837
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM129733067605436
HP:0000842HP:0008283Fasting hyperinsulinemia1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM129733067605436
HP:0000842HP:0008283Fasting hyperinsulinemia1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180730859601664
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA180730859601664
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM137711164182279
HP:0000842HP:0008283Fasting hyperinsulinemia1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM137711164182279
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133220423609868
HP:0000842HP:0008283Fasting hyperinsulinemia1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133220423609868
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143821653609507
HP:0000842HP:0008283Fasting hyperinsulinemia1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143821653609507
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132020087608132
HP:0000842HP:0008283Fasting hyperinsulinemia1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132020087608132
HP:0000842HP:0008283Fasting hyperinsulinemia1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135612406601197
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135612406601197
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147212423602280
HP:0000842HP:0008283Fasting hyperinsulinemia1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147212423602280
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1560512601608400
HP:0000842HP:0008283Fasting hyperinsulinemia1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1560512601608400
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0000842HP:0008283Fasting hyperinsulinemia1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM117612877606480
HP:0000842HP:0008283Fasting hyperinsulinemia1ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM117612877606480
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136920041616454
HP:0000842HP:0008283Fasting hyperinsulinemia1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA136920041616454
HP:0000842HP:0008283Fasting hyperinsulinemia1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129026498613598
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA129026498613598
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000842HP:0000842Hyperinsulinemia0INS CL E G H3630616214Hyperproinsulinemia616214C0342283OMIM01686081176730
HP:0000842HP:0000842Hyperinsulinemia0MC4R CL E G H416071529ORPHA02036932155541
HP:0000842HP:0000842Hyperinsulinemia0PCSK1 CL E G H512271528ORPHA02048743162150
HP:0000842HP:0000842Hyperinsulinemia0POMC CL E G H544371526ORPHA01079201176830
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1INS CL E G H3630616214Hyperproinsulinemia616214C0342283OMIM01686081176730
HP:0000842HP:0008283Fasting hyperinsulinemia1INS CL E G H3630616214Hyperproinsulinemia616214C0342283OMIM01686081176730
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1MC4R CL E G H416071529ORPHA02036932155541
HP:0000842HP:0008283Fasting hyperinsulinemia1MC4R CL E G H416071529ORPHA02036932155541
HP:0000842HP:0008283Fasting hyperinsulinemia1PCSK1 CL E G H512271528ORPHA02048743162150
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1PCSK1 CL E G H512271528ORPHA02048743162150
HP:0000842HP:0000825Hyperinsulinemic hypoglycemia1POMC CL E G H544371526ORPHA01079201176830
HP:0000842HP:0008283Fasting hyperinsulinemia1POMC CL E G H544371526ORPHA01079201176830


Genes (131) :ABCA4 ABCC8 AGBL5 AGPAT2 AHI1 AHR ALMS1 ARHGEF18 ARL2BP ARL3 ARL6 BBS2 BEST1 BSCL2 C8ORF37 C8orf37 CA4 CAV1 CAVIN1 CDHR1 CDKN1A CDKN1B CDKN2B CDKN2C CERKL CLRN1 CNGA1 CNGB1 CRB1 CRX DHDDS DHX38 DIS3L2 ESR1 EYS FAM161A FOS FSCN2 GCK GLUD1 GUCA1B HADH HERC2 HGSNAT HNF1A HNF4A IDH3B IFT140 IFT172 IFT88 IMPDH1 IMPG2 INS INSR IPW KCNJ11 KIAA1549 KIZ KLHL7 LEP LEPR LMNA LRAT MAFA MAGEL2 MAK MC4R MEN1 MERTK MKRN3 MKRN3-AS1 MPI NDN NEK2 NPAP1 NR2E3 NRL OFD1 PCARE PCSK1 PDE6A PDE6B PDE6G PLIN1 POMC POMGNT1 PPARG PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PWAR1 PWRN1 RBP3 RDH12 REEP6 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SH2B1 SIM1 SLC16A1 SLC7A14 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SPATA7 TOPORS TRMT10A TTC8 TUB TULP1 UCP2 USH2A ZMPSTE24 ZNF408 ZNF513

Diseases (53) :791 528 608594 64 203800 363400 269700 613327 2849 785 615363 176270 616214 508 246200 262190 66628 179494 79084 740 151660 248370 71529 71528 280356 71526 604367 329249 369873 608612 276575 240800 256450 652 276152 79299 602485 606762 71212 609975 324575 263455 263458 609968 276580 601820 79474 147630 97279 602579 610021 616033 276556
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.