Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
expand
Abnormal glucose homeostasis (HP:0011014)help
Parent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
..Starting node
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Diabetes mellitus (HP:0000819)help
Term ID: 819
Name: Diabetes mellitus
Synonym:
Definition: A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Comments:
Reference: HP:0000819
Genes and Diseases:
 
       Child Nodes:
........expandInsulin-resistant diabetes mellitus (HP:0000831) help
................... HP:0000857 Neonatal insulin-dependent diabetes mellitus
................... HP:0000877 Insulin-resistant diabetes mellitus at puberty
........expandDiabetic ketoacidosis (HP:0001953) help
........expandMaturity-onset diabetes of the young (HP:0004904) help
........expandType II diabetes mellitus (HP:0005978) help
................... HP:0008205 Insulin-dependent but ketosis-resistant diabetes
........expandMaternal diabetes (HP:0009800) help
........expandType I diabetes mellitus (HP:0100651) help

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of renin-angiotensin system (HP:0000847) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the pineal gland (HP:0012680) help
..expandAbnormality of the thymus (HP:0000777) help
..expandAbnormality of the thyroid gland (HP:0000820) help
..expandDiabetes insipidus (HP:0000873) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0000819Diabetes mellitus0AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0000819Diabetes mellitus0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0000819Diabetes mellitus0APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0000819Diabetes mellitus0APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0000819Diabetes mellitus0ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0000819Diabetes mellitus0ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0000819Diabetes mellitus0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0000819Diabetes mellitus0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0000819Diabetes mellitus0BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0000819Diabetes mellitus0CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0000819Diabetes mellitus0CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0000819Diabetes mellitus0CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0000819Diabetes mellitus0CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0000819Diabetes mellitus0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0000819Diabetes mellitus0CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0000819Diabetes mellitus0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0000819Diabetes mellitus0DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0000819Diabetes mellitus0FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0000819Diabetes mellitus0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0000819Diabetes mellitus0GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0000819Diabetes mellitus0GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0000819Diabetes mellitus0GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0000819Diabetes mellitus0GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0000819Diabetes mellitus0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0000819Diabetes mellitus0GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0000819Diabetes mellitus0GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0000819Diabetes mellitus0HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0000819Diabetes mellitus0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0000819Diabetes mellitus0HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0000819Diabetes mellitus0HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0000819Diabetes mellitus0HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0000819Diabetes mellitus0HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0000819Diabetes mellitus0HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0000819Diabetes mellitus0HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0000819Diabetes mellitus0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0000819Diabetes mellitus0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0000819Diabetes mellitus0INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0000819Diabetes mellitus0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0000819Diabetes mellitus0INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0000819Diabetes mellitus0KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0000819Diabetes mellitus0LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0000819Diabetes mellitus0LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0000819Diabetes mellitus0MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0000819Diabetes mellitus0MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0000819Diabetes mellitus0MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0000819Diabetes mellitus0MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0000819Diabetes mellitus0MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0000819Diabetes mellitus0MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0000819Diabetes mellitus0MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0000819Diabetes mellitus0MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0000819Diabetes mellitus0MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0000819Diabetes mellitus0MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0000819Diabetes mellitus0MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0000819Diabetes mellitus0MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0000819Diabetes mellitus0MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0000819Diabetes mellitus0MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0000819Diabetes mellitus0MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0000819Diabetes mellitus0MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0000819Diabetes mellitus0MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0000819Diabetes mellitus0MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0000819Diabetes mellitus0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0000819Diabetes mellitus0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0000819Diabetes mellitus0PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0000819Diabetes mellitus0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0000819Diabetes mellitus0PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0000819Diabetes mellitus0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0000819Diabetes mellitus0PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0000819Diabetes mellitus0PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0000819Diabetes mellitus0PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0000819Diabetes mellitus0PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0000819Diabetes mellitus0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0000819Diabetes mellitus0PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0000819Diabetes mellitus0PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0000819Diabetes mellitus0PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0000819Diabetes mellitus0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0000819Diabetes mellitus0PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0000819Diabetes mellitus0PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0000819Diabetes mellitus0SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0000819Diabetes mellitus0SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0000819Diabetes mellitus0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0000819Diabetes mellitus0SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0000819Diabetes mellitus0SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0000819Diabetes mellitus0STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0000819Diabetes mellitus0TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0000819Diabetes mellitus0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0000819Diabetes mellitus0USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0000819Diabetes mellitus0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0000819Diabetes mellitus0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0000819Diabetes mellitus0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0005978Type II diabetes mellitus1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0001953Diabetic ketoacidosis1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0100651Type I diabetes mellitus1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0004904Maturity-onset diabetes of the young1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0009800Maternal diabetes1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0005978Type II diabetes mellitus1AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0001953Diabetic ketoacidosis1AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0100651Type I diabetes mellitus1AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0004904Maturity-onset diabetes of the young1AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0009800Maternal diabetes1AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0005978Type II diabetes mellitus1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0001953Diabetic ketoacidosis1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0100651Type I diabetes mellitus1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0004904Maturity-onset diabetes of the young1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0009800Maternal diabetes1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0005978Type II diabetes mellitus1APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0001953Diabetic ketoacidosis1APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0100651Type I diabetes mellitus1APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0004904Maturity-onset diabetes of the young1APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0009800Maternal diabetes1APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0009800Maternal diabetes1APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0005978Type II diabetes mellitus1APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0001953Diabetic ketoacidosis1APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0100651Type I diabetes mellitus1APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0004904Maturity-onset diabetes of the young1APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0001953Diabetic ketoacidosis1ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0005978Type II diabetes mellitus1ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0100651Type I diabetes mellitus1ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0004904Maturity-onset diabetes of the young1ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0009800Maternal diabetes1ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0004904Maturity-onset diabetes of the young1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0009800Maternal diabetes1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0001953Diabetic ketoacidosis1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0005978Type II diabetes mellitus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0100651Type I diabetes mellitus1ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0100651Type I diabetes mellitus1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0004904Maturity-onset diabetes of the young1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0009800Maternal diabetes1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0005978Type II diabetes mellitus1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0001953Diabetic ketoacidosis1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0005978Type II diabetes mellitus1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0001953Diabetic ketoacidosis1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0100651Type I diabetes mellitus1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0004904Maturity-onset diabetes of the young1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0009800Maternal diabetes1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0005978Type II diabetes mellitus1BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0001953Diabetic ketoacidosis1BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0100651Type I diabetes mellitus1BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0004904Maturity-onset diabetes of the young1BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0009800Maternal diabetes1BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0100651Type I diabetes mellitus1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0004904Maturity-onset diabetes of the young1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0009800Maternal diabetes1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0001953Diabetic ketoacidosis1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0005978Type II diabetes mellitus1CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0100651Type I diabetes mellitus1CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0004904Maturity-onset diabetes of the young1CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0009800Maternal diabetes1CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0001953Diabetic ketoacidosis1CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0005978Type II diabetes mellitus1CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0004904Maturity-onset diabetes of the young1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0009800Maternal diabetes1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0005978Type II diabetes mellitus1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0001953Diabetic ketoacidosis1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0100651Type I diabetes mellitus1CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0009800Maternal diabetes1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0001953Diabetic ketoacidosis1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0005978Type II diabetes mellitus1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0100651Type I diabetes mellitus1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0004904Maturity-onset diabetes of the young1CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0100651Type I diabetes mellitus1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0004904Maturity-onset diabetes of the young1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0009800Maternal diabetes1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0005978Type II diabetes mellitus1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0001953Diabetic ketoacidosis1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0009800Maternal diabetes1CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0001953Diabetic ketoacidosis1CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0005978Type II diabetes mellitus1CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0100651Type I diabetes mellitus1CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0004904Maturity-onset diabetes of the young1CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0009800Maternal diabetes1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0001953Diabetic ketoacidosis1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0005978Type II diabetes mellitus1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0100651Type I diabetes mellitus1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0004904Maturity-onset diabetes of the young1DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0009800Maternal diabetes1DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0005978Type II diabetes mellitus1DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0001953Diabetic ketoacidosis1DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0100651Type I diabetes mellitus1DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0004904Maturity-onset diabetes of the young1DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0005978Type II diabetes mellitus1FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0001953Diabetic ketoacidosis1FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0100651Type I diabetes mellitus1FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0004904Maturity-onset diabetes of the young1FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0009800Maternal diabetes1FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0004904Maturity-onset diabetes of the young1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0009800Maternal diabetes1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0005978Type II diabetes mellitus1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0001953Diabetic ketoacidosis1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0100651Type I diabetes mellitus1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0009800Maternal diabetes1GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0005978Type II diabetes mellitus1GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0001953Diabetic ketoacidosis1GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0100651Type I diabetes mellitus1GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0004904Maturity-onset diabetes of the young1GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0004904Maturity-onset diabetes of the young1GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0009800Maternal diabetes1GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0001953Diabetic ketoacidosis1GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0005978Type II diabetes mellitus1GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0100651Type I diabetes mellitus1GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0009800Maternal diabetes1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0001953Diabetic ketoacidosis1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0005978Type II diabetes mellitus1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0100651Type I diabetes mellitus1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0004904Maturity-onset diabetes of the young1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0009800Maternal diabetes1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0005978Type II diabetes mellitus1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0001953Diabetic ketoacidosis1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0100651Type I diabetes mellitus1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0004904Maturity-onset diabetes of the young1GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0004904Maturity-onset diabetes of the young1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0009800Maternal diabetes1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0001953Diabetic ketoacidosis1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0005978Type II diabetes mellitus1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0100651Type I diabetes mellitus1GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0100651Type I diabetes mellitus1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0004904Maturity-onset diabetes of the young1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0009800Maternal diabetes1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0005978Type II diabetes mellitus1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0001953Diabetic ketoacidosis1GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0001953Diabetic ketoacidosis1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0005978Type II diabetes mellitus1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0100651Type I diabetes mellitus1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0004904Maturity-onset diabetes of the young1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0009800Maternal diabetes1GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0009800Maternal diabetes1GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0005978Type II diabetes mellitus1GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0001953Diabetic ketoacidosis1GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0100651Type I diabetes mellitus1GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0004904Maturity-onset diabetes of the young1GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0009800Maternal diabetes1GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0001953Diabetic ketoacidosis1GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0005978Type II diabetes mellitus1GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0100651Type I diabetes mellitus1GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0004904Maturity-onset diabetes of the young1GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0001953Diabetic ketoacidosis1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0005978Type II diabetes mellitus1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0100651Type I diabetes mellitus1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0004904Maturity-onset diabetes of the young1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0009800Maternal diabetes1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0100651Type I diabetes mellitus1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0004904Maturity-onset diabetes of the young1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0009800Maternal diabetes1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0001953Diabetic ketoacidosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0005978Type II diabetes mellitus1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0009800Maternal diabetes1HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0005978Type II diabetes mellitus1HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0001953Diabetic ketoacidosis1HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0100651Type I diabetes mellitus1HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0004904Maturity-onset diabetes of the young1HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0009800Maternal diabetes1HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0005978Type II diabetes mellitus1HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0001953Diabetic ketoacidosis1HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0100651Type I diabetes mellitus1HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0004904Maturity-onset diabetes of the young1HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0004904Maturity-onset diabetes of the young1HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0009800Maternal diabetes1HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0001953Diabetic ketoacidosis1HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0005978Type II diabetes mellitus1HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0100651Type I diabetes mellitus1HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0100651Type I diabetes mellitus1HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0001953Diabetic ketoacidosis1HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0005978Type II diabetes mellitus1HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0100651Type I diabetes mellitus1HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0009800Maternal diabetes1HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0001953Diabetic ketoacidosis1HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0005978Type II diabetes mellitus1HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0009800Maternal diabetes1HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0005978Type II diabetes mellitus1HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0001953Diabetic ketoacidosis1HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0100651Type I diabetes mellitus1HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0009800Maternal diabetes1HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0001953Diabetic ketoacidosis1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0005978Type II diabetes mellitus1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0100651Type I diabetes mellitus1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0004904Maturity-onset diabetes of the young1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0009800Maternal diabetes1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0004904Maturity-onset diabetes of the young1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0009800Maternal diabetes1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0001953Diabetic ketoacidosis1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0005978Type II diabetes mellitus1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0100651Type I diabetes mellitus1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0100651Type I diabetes mellitus1INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0004904Maturity-onset diabetes of the young1INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0009800Maternal diabetes1INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0001953Diabetic ketoacidosis1INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0005978Type II diabetes mellitus1INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0004904Maturity-onset diabetes of the young1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0009800Maternal diabetes1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0005978Type II diabetes mellitus1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0001953Diabetic ketoacidosis1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0100651Type I diabetes mellitus1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0100651Type I diabetes mellitus1INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0004904Maturity-onset diabetes of the young1INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0009800Maternal diabetes1INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0005978Type II diabetes mellitus1INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0001953Diabetic ketoacidosis1INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0100651Type I diabetes mellitus1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0004904Maturity-onset diabetes of the young1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0009800Maternal diabetes1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0001953Diabetic ketoacidosis1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0005978Type II diabetes mellitus1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0001953Diabetic ketoacidosis1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0005978Type II diabetes mellitus1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0100651Type I diabetes mellitus1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0004904Maturity-onset diabetes of the young1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0009800Maternal diabetes1KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0009800Maternal diabetes1LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0001953Diabetic ketoacidosis1LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0005978Type II diabetes mellitus1LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0100651Type I diabetes mellitus1LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0004904Maturity-onset diabetes of the young1LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0100651Type I diabetes mellitus1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0004904Maturity-onset diabetes of the young1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0009800Maternal diabetes1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0001953Diabetic ketoacidosis1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0005978Type II diabetes mellitus1LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0100651Type I diabetes mellitus1LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0004904Maturity-onset diabetes of the young1LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0005978Type II diabetes mellitus1LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0001953Diabetic ketoacidosis1LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0004904Maturity-onset diabetes of the young1LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0009800Maternal diabetes1LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0100651Type I diabetes mellitus1LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0005978Type II diabetes mellitus1LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0001953Diabetic ketoacidosis1LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0009800Maternal diabetes1LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0004904Maturity-onset diabetes of the young1LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0100651Type I diabetes mellitus1LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0005978Type II diabetes mellitus1LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0001953Diabetic ketoacidosis1LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0009800Maternal diabetes1LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0009800Maternal diabetes1MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0001953Diabetic ketoacidosis1MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0005978Type II diabetes mellitus1MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0100651Type I diabetes mellitus1MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0004904Maturity-onset diabetes of the young1MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0100651Type I diabetes mellitus1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0004904Maturity-onset diabetes of the young1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0009800Maternal diabetes1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0001953Diabetic ketoacidosis1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0005978Type II diabetes mellitus1MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0009800Maternal diabetes1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0001953Diabetic ketoacidosis1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0005978Type II diabetes mellitus1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0100651Type I diabetes mellitus1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0009800Maternal diabetes1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0005978Type II diabetes mellitus1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0001953Diabetic ketoacidosis1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0100651Type I diabetes mellitus1MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0100651Type I diabetes mellitus1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0009800Maternal diabetes1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0001953Diabetic ketoacidosis1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0005978Type II diabetes mellitus1MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0005978Type II diabetes mellitus1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0001953Diabetic ketoacidosis1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0100651Type I diabetes mellitus1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0009800Maternal diabetes1MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0009800Maternal diabetes1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0005978Type II diabetes mellitus1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0001953Diabetic ketoacidosis1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0100651Type I diabetes mellitus1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0009800Maternal diabetes1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0001953Diabetic ketoacidosis1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0005978Type II diabetes mellitus1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0100651Type I diabetes mellitus1MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0100651Type I diabetes mellitus1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0009800Maternal diabetes1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0005978Type II diabetes mellitus1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0001953Diabetic ketoacidosis1MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0005978Type II diabetes mellitus1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0100651Type I diabetes mellitus1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0009800Maternal diabetes1MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0009800Maternal diabetes1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0005978Type II diabetes mellitus1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0100651Type I diabetes mellitus1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0009800Maternal diabetes1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0005978Type II diabetes mellitus1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0100651Type I diabetes mellitus1MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0100651Type I diabetes mellitus1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0009800Maternal diabetes1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0005978Type II diabetes mellitus1MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0005978Type II diabetes mellitus1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0100651Type I diabetes mellitus1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0009800Maternal diabetes1MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0009800Maternal diabetes1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0005978Type II diabetes mellitus1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0100651Type I diabetes mellitus1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0009800Maternal diabetes1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0005978Type II diabetes mellitus1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0100651Type I diabetes mellitus1MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0100651Type I diabetes mellitus1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0009800Maternal diabetes1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0005978Type II diabetes mellitus1MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0001953Diabetic ketoacidosis1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0005978Type II diabetes mellitus1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0100651Type I diabetes mellitus1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0009800Maternal diabetes1MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0100651Type I diabetes mellitus1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0004904Maturity-onset diabetes of the young1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0009800Maternal diabetes1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0005978Type II diabetes mellitus1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0001953Diabetic ketoacidosis1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0009800Maternal diabetes1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0001953Diabetic ketoacidosis1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0005978Type II diabetes mellitus1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0100651Type I diabetes mellitus1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0100651Type I diabetes mellitus1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0009800Maternal diabetes1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0001953Diabetic ketoacidosis1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0005978Type II diabetes mellitus1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0100651Type I diabetes mellitus1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0009800Maternal diabetes1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0001953Diabetic ketoacidosis1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0005978Type II diabetes mellitus1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0009800Maternal diabetes1PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0005978Type II diabetes mellitus1PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0001953Diabetic ketoacidosis1PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0100651Type I diabetes mellitus1PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0001953Diabetic ketoacidosis1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0005978Type II diabetes mellitus1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0100651Type I diabetes mellitus1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0009800Maternal diabetes1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0001953Diabetic ketoacidosis1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0005978Type II diabetes mellitus1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0100651Type I diabetes mellitus1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0004904Maturity-onset diabetes of the young1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0009800Maternal diabetes1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0009800Maternal diabetes1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0001953Diabetic ketoacidosis1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0005978Type II diabetes mellitus1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0100651Type I diabetes mellitus1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0004904Maturity-onset diabetes of the young1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0100651Type I diabetes mellitus1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0004904Maturity-onset diabetes of the young1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0009800Maternal diabetes1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0005978Type II diabetes mellitus1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0001953Diabetic ketoacidosis1PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0004904Maturity-onset diabetes of the young1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0009800Maternal diabetes1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0001953Diabetic ketoacidosis1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0005978Type II diabetes mellitus1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0100651Type I diabetes mellitus1PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0001953Diabetic ketoacidosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0005978Type II diabetes mellitus1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0100651Type I diabetes mellitus1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0004904Maturity-onset diabetes of the young1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0009800Maternal diabetes1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0009800Maternal diabetes1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0001953Diabetic ketoacidosis1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0005978Type II diabetes mellitus1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0100651Type I diabetes mellitus1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0004904Maturity-onset diabetes of the young1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0005978Type II diabetes mellitus1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0001953Diabetic ketoacidosis1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0100651Type I diabetes mellitus1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0004904Maturity-onset diabetes of the young1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0009800Maternal diabetes1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0005978Type II diabetes mellitus1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0001953Diabetic ketoacidosis1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0100651Type I diabetes mellitus1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0004904Maturity-onset diabetes of the young1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0009800Maternal diabetes1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0009800Maternal diabetes1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0001953Diabetic ketoacidosis1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0005978Type II diabetes mellitus1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0100651Type I diabetes mellitus1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0004904Maturity-onset diabetes of the young1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0004904Maturity-onset diabetes of the young1PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0009800Maternal diabetes1PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0005978Type II diabetes mellitus1PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0001953Diabetic ketoacidosis1PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0100651Type I diabetes mellitus1PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0004904Maturity-onset diabetes of the young1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0009800Maternal diabetes1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0001953Diabetic ketoacidosis1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0005978Type II diabetes mellitus1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0100651Type I diabetes mellitus1PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0009800Maternal diabetes1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0001953Diabetic ketoacidosis1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0005978Type II diabetes mellitus1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0100651Type I diabetes mellitus1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0004904Maturity-onset diabetes of the young1SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0004904Maturity-onset diabetes of the young1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0009800Maternal diabetes1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0001953Diabetic ketoacidosis1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0005978Type II diabetes mellitus1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0100651Type I diabetes mellitus1SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0100651Type I diabetes mellitus1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0004904Maturity-onset diabetes of the young1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0009800Maternal diabetes1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0005978Type II diabetes mellitus1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0001953Diabetic ketoacidosis1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0001953Diabetic ketoacidosis1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0005978Type II diabetes mellitus1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0100651Type I diabetes mellitus1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0004904Maturity-onset diabetes of the young1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0009800Maternal diabetes1SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0100651Type I diabetes mellitus1SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0004904Maturity-onset diabetes of the young1SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0009800Maternal diabetes1SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0005978Type II diabetes mellitus1SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0001953Diabetic ketoacidosis1SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0004904Maturity-onset diabetes of the young1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0009800Maternal diabetes1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0005978Type II diabetes mellitus1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0001953Diabetic ketoacidosis1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0100651Type I diabetes mellitus1STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0004904Maturity-onset diabetes of the young1TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0009800Maternal diabetes1TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0001953Diabetic ketoacidosis1TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0005978Type II diabetes mellitus1TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0100651Type I diabetes mellitus1TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0004904Maturity-onset diabetes of the young1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0009800Maternal diabetes1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0001953Diabetic ketoacidosis1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0005978Type II diabetes mellitus1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0100651Type I diabetes mellitus1UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0001953Diabetic ketoacidosis1USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0005978Type II diabetes mellitus1USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0100651Type I diabetes mellitus1USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0004904Maturity-onset diabetes of the young1USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0009800Maternal diabetes1USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0004904Maturity-onset diabetes of the young1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0100651Type I diabetes mellitus1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0009800Maternal diabetes1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0004904Maturity-onset diabetes of the young1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0001953Diabetic ketoacidosis1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0005978Type II diabetes mellitus1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0009800Maternal diabetes1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0001953Diabetic ketoacidosis1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0100651Type I diabetes mellitus1WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0005978Type II diabetes mellitus1WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0009800Maternal diabetes1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0001953Diabetic ketoacidosis1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0005978Type II diabetes mellitus1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0100651Type I diabetes mellitus1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0004904Maturity-onset diabetes of the young1WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0100651Type I diabetes mellitus1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0004904Maturity-onset diabetes of the young1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0009800Maternal diabetes1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0001953Diabetic ketoacidosis1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0005978Type II diabetes mellitus1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0004904Maturity-onset diabetes of the young1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0009800Maternal diabetes1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0001953Diabetic ketoacidosis1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0005978Type II diabetes mellitus1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0100651Type I diabetes mellitus1XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0001953Diabetic ketoacidosis1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0005978Type II diabetes mellitus1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0100651Type I diabetes mellitus1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0004904Maturity-onset diabetes of the young1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0009800Maternal diabetes1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM1189259600509
HP:0000819HP:0008255Transient neonatal diabetes mellitus3AIP CL E G H9049963ORPHA1867358605555
HP:0000819HP:0008255Transient neonatal diabetes mellitus3AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM11035360607358
HP:0000819HP:0008255Transient neonatal diabetes mellitus3APOA5 CL E G H116519144650Familial type 5 hyperlipoproteinemia144650C0020481OMIM120317288606368
HP:0000819HP:0008255Transient neonatal diabetes mellitus3APOE CL E G H348412ORPHA1166613107741
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ARMC5 CL E G H79798189427ORPHA115725781615549
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ATM CL E G H472208900Ataxia-telangiectasia syndrome208900C0004135OMIM114692795607585
HP:0000819HP:0008255Transient neonatal diabetes mellitus3BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000819HP:0008255Transient neonatal diabetes mellitus3BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000819HP:0008255Transient neonatal diabetes mellitus3BLK CL E G H640613375Maturity-onset diabetes of the young, type 11613375C3150618OMIM14161057191305
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CAV1 CL E G H857612526Lipodystrophy, congenital generalized, type 3612526C2675861OMIM11351527601047
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CDH23 CL E G H6407296253ORPHA1452213733605516
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CISD2 CL E G H4938563463ORPHA17124212611507
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CISD2 CL E G H493856604928Wolfram syndrome 2604928C1858028OMIM17124212611507
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CP CL E G H135648818ORPHA18312295117700
HP:0000819HP:0008255Transient neonatal diabetes mellitus3DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000819HP:0008255Transient neonatal diabetes mellitus3DNAJC3 CL E G H5611445062ORPHA11189439601184
HP:0000819HP:0008255Transient neonatal diabetes mellitus3FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM14436106300292
HP:0000819HP:0008255Transient neonatal diabetes mellitus3FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GATA6 CL E G H2627600001Pancreatic agenesis and congenital heart disease600001C1838780OMIM14964174601656
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM19474195138079
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM19474195138079
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GJA1 CL E G H2697317Sacral hemangiomas multiple congenital abnormalitiesORPHA12724274121014
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GJB3 CL E G H2707317Sacral hemangiomas multiple congenital abnormalitiesORPHA11954285603324
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GJB4 CL E G H127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA1864286605425
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM168628510610192
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GNAS CL E G H2778189427ORPHA16444392139320
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GPR101 CL E G H83550963ORPHA121114963300393
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HAMP CL E G H5781779230ORPHA16715598606464
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HJV CL E G H14873879230ORPHA14704887608374
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HLA-DQB1 CL E G H3119703ORPHA1184944604305
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HLA-DRB1 CL E G H3123703ORPHA1414948142857
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HNF1B CL E G H6928261265ORPHA169711630189907
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HNF1B CL E G H692893111ORPHA169711630189907
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HNF4A CL E G H317293111ORPHA15095024600281
HP:0000819HP:0008255Transient neonatal diabetes mellitus3IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM114018550609382
HP:0000819HP:0008255Transient neonatal diabetes mellitus3IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM19265465147370
HP:0000819HP:0008255Transient neonatal diabetes mellitus3INS CL E G H3630125852Diabetes mellitus, insulin-dependent, 2125852C1852092OMIM11856081176730
HP:0000819HP:0008255Transient neonatal diabetes mellitus3INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM11856081176730
HP:0000819HP:0008255Transient neonatal diabetes mellitus3INSR CL E G H3643769ORPHA16226091147670
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM14356257600937
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KDSR CL E G H2531317Sacral hemangiomas multiple congenital abnormalitiesORPHA11154021136440
HP:0000819HP:0008255Transient neonatal diabetes mellitus3LHX1 CL E G H3975261265ORPHA11406593601999
HP:0000819HP:0008255Transient neonatal diabetes mellitus3LIPE CL E G H3991615980Familial partial lipodystrophy 6615980C4014869OMIM11446621151750
HP:0000819HP:0008255Transient neonatal diabetes mellitus3LMNA CL E G H40002348ORPHA118146636150330
HP:0000819HP:0008255Transient neonatal diabetes mellitus3LMNA CL E G H4000280365ORPHA118146636150330
HP:0000819HP:0008255Transient neonatal diabetes mellitus3LMNA CL E G H400079084ORPHA118146636150330
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MAFA CL E G H389692147630Islet cell adenomatosis147630C1578917OMIM18923145610303
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MKKS CL E G H8195605231Bardet-Biedl syndrome 6605231C1858054OMIM14327108604896
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0000819HP:0008255Transient neonatal diabetes mellitus3NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM112126513617246
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PDX1 CL E G H3651260370Pancreatic agenesis, congenital260370C1850096OMIM11706107600733
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM11706107600733
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PEX1 CL E G H51893220ORPHA115378850602136
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PEX6 CL E G H51903220ORPHA114588859601498
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PIK3R1 CL E G H52953163Lactic acidosis congenital infantileORPHA14578979171833
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PLIN1 CL E G H5346613877Familial partial lipodystrophy 4613877C3151268OMIM11389076170290
HP:0000819HP:0008255Transient neonatal diabetes mellitus3POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1439380601639
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM17389475276000
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PTF1A CL E G H256297609069Diabetes mellitus, permanent neonatal, with cerebellar agenesis609069C1836780OMIM111923734607194
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SARS2 CL E G H54938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis613845C3151209OMIM125617697612804
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SLC19A2 CL E G H1056049827ORPHA124610938603941
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM124610938603941
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SLC29A3 CL E G H55315602782Histiocytosis-lymphadenopathy plus syndrome602782C1864445OMIM144723096612373
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM119811244167790
HP:0000819HP:0008255Transient neonatal diabetes mellitus3STAT3 CL E G H6774615952Autoimmune disease, multisystem, infantile-onset, 1615952C4014795OMIM163911364102582
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TP53 CL E G H71571501ORPHA1297711998191170
HP:0000819HP:0008255Transient neonatal diabetes mellitus3UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM135016808605981
HP:0000819HP:0008255Transient neonatal diabetes mellitus3USP8 CL E G H910196253ORPHA115812631603158
HP:0000819HP:0008255Transient neonatal diabetes mellitus3WFS1 CL E G H7466411590ORPHA1163412762606201
HP:0000819HP:0008255Transient neonatal diabetes mellitus3WFS1 CL E G H74663463ORPHA1163412762606201
HP:0000819HP:0008255Transient neonatal diabetes mellitus3WFS1 CL E G H7466222300Diabetes mellitus AND insipidus with optic atrophy AND deafness222300C0043207OMIM1163412762606201
HP:0000819HP:0008255Transient neonatal diabetes mellitus3WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000819HP:0008255Transient neonatal diabetes mellitus3XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM112912831194363
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM125213503606025
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000819HP:0000819Diabetes mellitus0ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0000819Diabetes mellitus0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0000819Diabetes mellitus0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0000819Diabetes mellitus0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0000819Diabetes mellitus0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0000819Diabetes mellitus0CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0000819Diabetes mellitus0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0000819Diabetes mellitus0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0000819Diabetes mellitus0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0000819Diabetes mellitus0CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0000819Diabetes mellitus0CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0000819Diabetes mellitus0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0000819Diabetes mellitus0CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0000819Diabetes mellitus0CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0000819Diabetes mellitus0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0000819Diabetes mellitus0EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0000819Diabetes mellitus0ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0000819Diabetes mellitus0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0000819Diabetes mellitus0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0000819Diabetes mellitus0FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0000819Diabetes mellitus0FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0000819Diabetes mellitus0GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0000819Diabetes mellitus0GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0000819Diabetes mellitus0HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0000819Diabetes mellitus0HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0000819Diabetes mellitus0HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0000819Diabetes mellitus0HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0000819Diabetes mellitus0IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0000819Diabetes mellitus0IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0000819Diabetes mellitus0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0000819Diabetes mellitus0LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0000819Diabetes mellitus0LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0000819Diabetes mellitus0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0000819Diabetes mellitus0MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0000819Diabetes mellitus0NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0000819Diabetes mellitus0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0000819Diabetes mellitus0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0000819Diabetes mellitus0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0000819Diabetes mellitus0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0000819Diabetes mellitus0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0000819Diabetes mellitus0PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0000819Diabetes mellitus0PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0000819Diabetes mellitus0PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0000819Diabetes mellitus0POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0000819Diabetes mellitus0POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0000819Diabetes mellitus0POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0000819Diabetes mellitus0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0000819Diabetes mellitus0PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0000819Diabetes mellitus0PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0000819Diabetes mellitus0PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0000819Diabetes mellitus0RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0000819Diabetes mellitus0RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0000819Diabetes mellitus0RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0000819Diabetes mellitus0RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0000819Diabetes mellitus0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0000819Diabetes mellitus0SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0000819Diabetes mellitus0SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0000819Diabetes mellitus0SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0000819Diabetes mellitus0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0000819Diabetes mellitus0SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0000819Diabetes mellitus0STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0000819Diabetes mellitus0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0000819Diabetes mellitus0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0000819Diabetes mellitus0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0000819Diabetes mellitus0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0000819Diabetes mellitus0TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0000819Diabetes mellitus0TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0000819Diabetes mellitus0TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0000819Diabetes mellitus0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0000819Diabetes mellitus0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0000819Diabetes mellitus0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0000819Diabetes mellitus0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0000819Diabetes mellitus0ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0001953Diabetic ketoacidosis1ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0005978Type II diabetes mellitus1ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0100651Type I diabetes mellitus1ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0004904Maturity-onset diabetes of the young1ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0009800Maternal diabetes1ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0100651Type I diabetes mellitus1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0004904Maturity-onset diabetes of the young1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0009800Maternal diabetes1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0001953Diabetic ketoacidosis1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0005978Type II diabetes mellitus1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0004904Maturity-onset diabetes of the young1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0009800Maternal diabetes1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0005978Type II diabetes mellitus1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0001953Diabetic ketoacidosis1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0100651Type I diabetes mellitus1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0100651Type I diabetes mellitus1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0004904Maturity-onset diabetes of the young1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0009800Maternal diabetes1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0001953Diabetic ketoacidosis1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0005978Type II diabetes mellitus1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0001953Diabetic ketoacidosis1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0005978Type II diabetes mellitus1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0100651Type I diabetes mellitus1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0004904Maturity-onset diabetes of the young1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0009800Maternal diabetes1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0004904Maturity-onset diabetes of the young1CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0009800Maternal diabetes1CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0005978Type II diabetes mellitus1CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0001953Diabetic ketoacidosis1CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0100651Type I diabetes mellitus1CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0009800Maternal diabetes1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0005978Type II diabetes mellitus1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0001953Diabetic ketoacidosis1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0100651Type I diabetes mellitus1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0004904Maturity-onset diabetes of the young1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0004904Maturity-onset diabetes of the young1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0009800Maternal diabetes1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0001953Diabetic ketoacidosis1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0005978Type II diabetes mellitus1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0100651Type I diabetes mellitus1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0005978Type II diabetes mellitus1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0001953Diabetic ketoacidosis1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0100651Type I diabetes mellitus1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0004904Maturity-onset diabetes of the young1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0009800Maternal diabetes1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0100651Type I diabetes mellitus1CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0004904Maturity-onset diabetes of the young1CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0009800Maternal diabetes1CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0001953Diabetic ketoacidosis1CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0005978Type II diabetes mellitus1CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0005978Type II diabetes mellitus1CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0001953Diabetic ketoacidosis1CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0100651Type I diabetes mellitus1CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0004904Maturity-onset diabetes of the young1CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0009800Maternal diabetes1CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0100651Type I diabetes mellitus1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0004904Maturity-onset diabetes of the young1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0009800Maternal diabetes1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0001953Diabetic ketoacidosis1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0005978Type II diabetes mellitus1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0001953Diabetic ketoacidosis1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0005978Type II diabetes mellitus1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0100651Type I diabetes mellitus1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0004904Maturity-onset diabetes of the young1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0009800Maternal diabetes1CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0009800Maternal diabetes1CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0001953Diabetic ketoacidosis1CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0005978Type II diabetes mellitus1CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0100651Type I diabetes mellitus1CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0004904Maturity-onset diabetes of the young1CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0005978Type II diabetes mellitus1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0001953Diabetic ketoacidosis1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0100651Type I diabetes mellitus1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0004904Maturity-onset diabetes of the young1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0009800Maternal diabetes1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0004904Maturity-onset diabetes of the young1EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0009800Maternal diabetes1EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0001953Diabetic ketoacidosis1EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0005978Type II diabetes mellitus1EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0100651Type I diabetes mellitus1EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0009800Maternal diabetes1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0001953Diabetic ketoacidosis1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0005978Type II diabetes mellitus1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0100651Type I diabetes mellitus1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0004904Maturity-onset diabetes of the young1ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0001953Diabetic ketoacidosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0005978Type II diabetes mellitus1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0100651Type I diabetes mellitus1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0004904Maturity-onset diabetes of the young1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0009800Maternal diabetes1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0100651Type I diabetes mellitus1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0004904Maturity-onset diabetes of the young1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0009800Maternal diabetes1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0005978Type II diabetes mellitus1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0001953Diabetic ketoacidosis1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0005978Type II diabetes mellitus1FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0001953Diabetic ketoacidosis1FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0100651Type I diabetes mellitus1FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0004904Maturity-onset diabetes of the young1FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0009800Maternal diabetes1FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0100651Type I diabetes mellitus1FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0004904Maturity-onset diabetes of the young1FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0009800Maternal diabetes1FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0001953Diabetic ketoacidosis1FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0005978Type II diabetes mellitus1FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0004904Maturity-onset diabetes of the young1GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0009800Maternal diabetes1GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0005978Type II diabetes mellitus1GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0001953Diabetic ketoacidosis1GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0100651Type I diabetes mellitus1GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0100651Type I diabetes mellitus1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0004904Maturity-onset diabetes of the young1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0009800Maternal diabetes1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0005978Type II diabetes mellitus1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0001953Diabetic ketoacidosis1GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0004904Maturity-onset diabetes of the young1HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0009800Maternal diabetes1HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0005978Type II diabetes mellitus1HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0001953Diabetic ketoacidosis1HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0100651Type I diabetes mellitus1HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0100651Type I diabetes mellitus1HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0004904Maturity-onset diabetes of the young1HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0009800Maternal diabetes1HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0001953Diabetic ketoacidosis1HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0005978Type II diabetes mellitus1HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0009800Maternal diabetes1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0001953Diabetic ketoacidosis1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0005978Type II diabetes mellitus1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0100651Type I diabetes mellitus1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0004904Maturity-onset diabetes of the young1HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0009800Maternal diabetes1HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0001953Diabetic ketoacidosis1HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0005978Type II diabetes mellitus1HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0100651Type I diabetes mellitus1HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0009800Maternal diabetes1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0005978Type II diabetes mellitus1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0001953Diabetic ketoacidosis1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0100651Type I diabetes mellitus1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0004904Maturity-onset diabetes of the young1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0009800Maternal diabetes1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0005978Type II diabetes mellitus1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0001953Diabetic ketoacidosis1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0100651Type I diabetes mellitus1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0004904Maturity-onset diabetes of the young1IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0009800Maternal diabetes1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0001953Diabetic ketoacidosis1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0005978Type II diabetes mellitus1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0100651Type I diabetes mellitus1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0004904Maturity-onset diabetes of the young1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0004904Maturity-onset diabetes of the young1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0009800Maternal diabetes1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0005978Type II diabetes mellitus1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0001953Diabetic ketoacidosis1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0100651Type I diabetes mellitus1LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0001953Diabetic ketoacidosis1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0005978Type II diabetes mellitus1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0100651Type I diabetes mellitus1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0004904Maturity-onset diabetes of the young1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0009800Maternal diabetes1LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0009800Maternal diabetes1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0005978Type II diabetes mellitus1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0001953Diabetic ketoacidosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0100651Type I diabetes mellitus1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0004904Maturity-onset diabetes of the young1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0009800Maternal diabetes1MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0001953Diabetic ketoacidosis1MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0005978Type II diabetes mellitus1MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0100651Type I diabetes mellitus1MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0004904Maturity-onset diabetes of the young1MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0009800Maternal diabetes1NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0001953Diabetic ketoacidosis1NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0005978Type II diabetes mellitus1NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0100651Type I diabetes mellitus1NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0004904Maturity-onset diabetes of the young1NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0009800Maternal diabetes1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0001953Diabetic ketoacidosis1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0005978Type II diabetes mellitus1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0100651Type I diabetes mellitus1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0004904Maturity-onset diabetes of the young1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0004904Maturity-onset diabetes of the young1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0009800Maternal diabetes1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0005978Type II diabetes mellitus1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0001953Diabetic ketoacidosis1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0100651Type I diabetes mellitus1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0004904Maturity-onset diabetes of the young1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0009800Maternal diabetes1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0001953Diabetic ketoacidosis1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0005978Type II diabetes mellitus1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0100651Type I diabetes mellitus1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0100651Type I diabetes mellitus1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0004904Maturity-onset diabetes of the young1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0009800Maternal diabetes1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0005978Type II diabetes mellitus1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0001953Diabetic ketoacidosis1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0100651Type I diabetes mellitus1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0004904Maturity-onset diabetes of the young1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0009800Maternal diabetes1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0001953Diabetic ketoacidosis1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0005978Type II diabetes mellitus1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0009800Maternal diabetes1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0001953Diabetic ketoacidosis1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0005978Type II diabetes mellitus1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0100651Type I diabetes mellitus1PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0009800Maternal diabetes1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0005978Type II diabetes mellitus1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0001953Diabetic ketoacidosis1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0100651Type I diabetes mellitus1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0004904Maturity-onset diabetes of the young1PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0004904Maturity-onset diabetes of the young1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0009800Maternal diabetes1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0005978Type II diabetes mellitus1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0001953Diabetic ketoacidosis1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0100651Type I diabetes mellitus1PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0100651Type I diabetes mellitus1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0004904Maturity-onset diabetes of the young1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0009800Maternal diabetes1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0005978Type II diabetes mellitus1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0001953Diabetic ketoacidosis1POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0100651Type I diabetes mellitus1POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0004904Maturity-onset diabetes of the young1POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0009800Maternal diabetes1POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0001953Diabetic ketoacidosis1POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0005978Type II diabetes mellitus1POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0001953Diabetic ketoacidosis1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0005978Type II diabetes mellitus1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0100651Type I diabetes mellitus1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0004904Maturity-onset diabetes of the young1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0009800Maternal diabetes1POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0001953Diabetic ketoacidosis1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0005978Type II diabetes mellitus1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0100651Type I diabetes mellitus1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0004904Maturity-onset diabetes of the young1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0009800Maternal diabetes1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0009800Maternal diabetes1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0001953Diabetic ketoacidosis1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0005978Type II diabetes mellitus1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0100651Type I diabetes mellitus1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0004904Maturity-onset diabetes of the young1PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0004904Maturity-onset diabetes of the young1PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0009800Maternal diabetes1PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0001953Diabetic ketoacidosis1PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0005978Type II diabetes mellitus1PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0100651Type I diabetes mellitus1PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0100651Type I diabetes mellitus1PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0004904Maturity-onset diabetes of the young1PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0009800Maternal diabetes1PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0005978Type II diabetes mellitus1PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0001953Diabetic ketoacidosis1PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0004904Maturity-onset diabetes of the young1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0009800Maternal diabetes1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0001953Diabetic ketoacidosis1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0005978Type II diabetes mellitus1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0100651Type I diabetes mellitus1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0100651Type I diabetes mellitus1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0004904Maturity-onset diabetes of the young1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0009800Maternal diabetes1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0001953Diabetic ketoacidosis1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0005978Type II diabetes mellitus1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0005978Type II diabetes mellitus1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0001953Diabetic ketoacidosis1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0100651Type I diabetes mellitus1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0004904Maturity-onset diabetes of the young1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0009800Maternal diabetes1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0009800Maternal diabetes1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0005978Type II diabetes mellitus1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0001953Diabetic ketoacidosis1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0100651Type I diabetes mellitus1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0004904Maturity-onset diabetes of the young1RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0001953Diabetic ketoacidosis1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0005978Type II diabetes mellitus1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0100651Type I diabetes mellitus1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0004904Maturity-onset diabetes of the young1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0009800Maternal diabetes1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0009800Maternal diabetes1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0001953Diabetic ketoacidosis1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0005978Type II diabetes mellitus1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0100651Type I diabetes mellitus1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0004904Maturity-onset diabetes of the young1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0004904Maturity-onset diabetes of the young1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0009800Maternal diabetes1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0001953Diabetic ketoacidosis1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0005978Type II diabetes mellitus1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0100651Type I diabetes mellitus1SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0100651Type I diabetes mellitus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0004904Maturity-onset diabetes of the young1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0009800Maternal diabetes1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0005978Type II diabetes mellitus1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0001953Diabetic ketoacidosis1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0001953Diabetic ketoacidosis1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0005978Type II diabetes mellitus1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0100651Type I diabetes mellitus1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0004904Maturity-onset diabetes of the young1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0009800Maternal diabetes1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0001953Diabetic ketoacidosis1SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0005978Type II diabetes mellitus1SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0100651Type I diabetes mellitus1SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0004904Maturity-onset diabetes of the young1SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0009800Maternal diabetes1SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0100651Type I diabetes mellitus1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0004904Maturity-onset diabetes of the young1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0009800Maternal diabetes1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0005978Type II diabetes mellitus1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0001953Diabetic ketoacidosis1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0009800Maternal diabetes1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0005978Type II diabetes mellitus1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0001953Diabetic ketoacidosis1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0100651Type I diabetes mellitus1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0004904Maturity-onset diabetes of the young1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0004904Maturity-onset diabetes of the young1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0009800Maternal diabetes1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0001953Diabetic ketoacidosis1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0005978Type II diabetes mellitus1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0100651Type I diabetes mellitus1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0100651Type I diabetes mellitus1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0004904Maturity-onset diabetes of the young1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0009800Maternal diabetes1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0005978Type II diabetes mellitus1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0001953Diabetic ketoacidosis1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0009800Maternal diabetes1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0005978Type II diabetes mellitus1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0001953Diabetic ketoacidosis1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0100651Type I diabetes mellitus1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0004904Maturity-onset diabetes of the young1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0004904Maturity-onset diabetes of the young1TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0009800Maternal diabetes1TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0005978Type II diabetes mellitus1TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0001953Diabetic ketoacidosis1TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0100651Type I diabetes mellitus1TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0001953Diabetic ketoacidosis1TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0005978Type II diabetes mellitus1TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0100651Type I diabetes mellitus1TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0004904Maturity-onset diabetes of the young1TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0009800Maternal diabetes1TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0100651Type I diabetes mellitus1TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0004904Maturity-onset diabetes of the young1TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0009800Maternal diabetes1TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0005978Type II diabetes mellitus1TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0001953Diabetic ketoacidosis1TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0100651Type I diabetes mellitus1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0004904Maturity-onset diabetes of the young1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0009800Maternal diabetes1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0005978Type II diabetes mellitus1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0001953Diabetic ketoacidosis1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0100651Type I diabetes mellitus1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0004904Maturity-onset diabetes of the young1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0009800Maternal diabetes1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0001953Diabetic ketoacidosis1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0005978Type II diabetes mellitus1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0001953Diabetic ketoacidosis1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0005978Type II diabetes mellitus1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0100651Type I diabetes mellitus1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0004904Maturity-onset diabetes of the young1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0009800Maternal diabetes1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0009800Maternal diabetes1WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0005978Type II diabetes mellitus1WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0001953Diabetic ketoacidosis1WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0100651Type I diabetes mellitus1WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0004904Maturity-onset diabetes of the young1WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0009800Maternal diabetes1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0005978Type II diabetes mellitus1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0001953Diabetic ketoacidosis1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0100651Type I diabetes mellitus1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0004904Maturity-onset diabetes of the young1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0004904Maturity-onset diabetes of the young1ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0009800Maternal diabetes1ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0001953Diabetic ketoacidosis1ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0005978Type II diabetes mellitus1ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0100651Type I diabetes mellitus1ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ZFYVE26 CL E G H23503100996ORPHA0240820761612012
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ADAR CL E G H10351ORPHA01122225146920
HP:0000819HP:0008255Transient neonatal diabetes mellitus3AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0242325603100
HP:0000819HP:0008255Transient neonatal diabetes mellitus3BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA0139551100113705
HP:0000819HP:0008255Transient neonatal diabetes mellitus3BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA0175431101600185
HP:0000819HP:0008255Transient neonatal diabetes mellitus3BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA051015832606158
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CASR CL E G H846676ORPHA023301514601199
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA01351527601047
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01289688603198
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA013051787600160
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CFTR CL E G H1080676ORPHA044331884602421
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CPA1 CL E G H1357676ORPHA07402296114850
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0129226169613129
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CTNS CL E G H1497219800Nephropathic cystinosis219800C0010690OMIM07782518606272
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CTRC CL E G H11330676ORPHA05362523601405
HP:0000819HP:0008255Transient neonatal diabetes mellitus3DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05342890300126
HP:0000819HP:0008255Transient neonatal diabetes mellitus3EIF2S3 CL E G H196885282ORPHA02083267300161
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ELMO2 CL E G H639163019Intracranial aneurysms multiple congenital anomalyORPHA05717233606421
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ELN CL E G H2006194050Williams syndrome194050C0175702OMIM09663327130160
HP:0000819HP:0008255Transient neonatal diabetes mellitus3FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0403796164810
HP:0000819HP:0008255Transient neonatal diabetes mellitus3FOXC2 CL E G H230333001ORPHA02033801602402
HP:0000819HP:0008255Transient neonatal diabetes mellitus3FXN CL E G H239595ORPHA01583951606829
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GATA3 CL E G H26252237ORPHA03394172131320
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GPIHBP1 CL E G H338328444490Familial chylomicronemia syndromeCN231410ORPHA018724945612757
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HBB CL E G H3043231214ORPHA016004827141900
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HFE CL E G H3077465508ORPHA02374886613609
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HMGA2 CL E G H809194063ORPHA0345009600698
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HNF4A CL E G H3172616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young616026C4014962OMIM05095024600281
HP:0000819HP:0008255Transient neonatal diabetes mellitus3IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0000819HP:0008255Transient neonatal diabetes mellitus3IL2RA CL E G H3559606367Interleukin 2 receptor, alpha, deficiency of606367C1853392OMIM03066008147730
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA04806407190070
HP:0000819HP:0008255Transient neonatal diabetes mellitus3LEMD3 CL E G H2359294063ORPHA044128887607844
HP:0000819HP:0008255Transient neonatal diabetes mellitus3LMF1 CL E G H64788444490Familial chylomicronemia syndromeCN231410ORPHA055414154611761
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM024812744605678
HP:0000819HP:0008255Transient neonatal diabetes mellitus3MT-ATP6 CL E G H4508320360ORPHA07414516060
HP:0000819HP:0008255Transient neonatal diabetes mellitus3NDP CL E G H4693649ORPHA02997678300658
HP:0000819HP:0008255Transient neonatal diabetes mellitus3NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA019614377606470
HP:0000819HP:0008255Transient neonatal diabetes mellitus3NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA010214378606471
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA0522526144610355
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA0174117068608092
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA06278609604212
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PDE4D CL E G H5144614613Acrodysostosis 2, with or without hormone resistance614613C3553250OMIM04758783600129
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PNPLA2 CL E G H5710498908ORPHA056630802609059
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PNPLA2 CL E G H57104610717Neutral lipid storage disease with myopathy610717C1853136OMIM056630802609059
HP:0000819HP:0008255Transient neonatal diabetes mellitus3POC1A CL E G H25886614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813C3542022OMIM015624488614783
HP:0000819HP:0008255Transient neonatal diabetes mellitus3POLG CL E G H5428254892ORPHA023249179174763
HP:0000819HP:0008255Transient neonatal diabetes mellitus3POLG2 CL E G H11232254892ORPHA03579180604983
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01669236601487
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM06518455607002
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PRSS1 CL E G H5644676ORPHA07389475276000
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PRSS2 CL E G H5645676ORPHA0299483601564
HP:0000819HP:0008255Transient neonatal diabetes mellitus3RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0000819HP:0008255Transient neonatal diabetes mellitus3RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0000819HP:0008255Transient neonatal diabetes mellitus3RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0000819HP:0008255Transient neonatal diabetes mellitus3RRM2B CL E G H50484254892ORPHA035417296604712
HP:0000819HP:0008255Transient neonatal diabetes mellitus3RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0259715888608833
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SLC25A4 CL E G H291254892ORPHA033310990103220
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA018986770600993
HP:0000819HP:0008255Transient neonatal diabetes mellitus3SPINK1 CL E G H6690676ORPHA019811244167790
HP:0000819HP:0008255Transient neonatal diabetes mellitus3STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM055711362600555
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA035811727602322
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0281011730187270
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA041111824604319
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA0297711998191170
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TREX1 CL E G H1127751ORPHA041812269606609
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TTPA CL E G H727496ORPHA038912404600415
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TWNK CL E G H56652254892ORPHA04501160606075
HP:0000819HP:0008255Transient neonatal diabetes mellitus3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000819HP:0008255Transient neonatal diabetes mellitus3UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA035016808605981
HP:0000819HP:0008255Transient neonatal diabetes mellitus3USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA028225792613276
HP:0000819HP:0008255Transient neonatal diabetes mellitus3WFS1 CL E G H7466614296Wolfram-like syndrome, autosomal dominant614296C3280358OMIM0163412762606201
HP:0000819HP:0008255Transient neonatal diabetes mellitus3WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA048425522612661
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ZFYVE26 CL E G H23503100996ORPHA0240820761612012


Genes (337) :ABCA4 ABCC8 ADAR AGBL5 AGPAT2 AHI1 AHR AIP AIRE AKT2 ALMS1 AMACR APOA5 APOE AR ARHGEF18 ARL2BP ARL3 ARL6 ARMC5 ARNT2 ATM ATP6 BAZ1B BBS1 BBS2 BEST1 BLK BLM BRAF BRCA1 BRCA2 BSCL2 C8ORF37 CA4 CASR CAV1 CAVIN1 CDH23 CDHR1 CDKN2A CDON CEL CEP19 CERKL CFTR CIDEC CISD2 CLIP2 CLRN1 CNBP CNGA1 CNGB1 COX1 COX2 COX3 CP CPA1 CRB1 CRX CTC1 CTNNB1 CTNS CTRC CYP19A1 CYTB DCAF17 DHDDS DHX38 DISP1 DKC1 DLL1 DNAJC21 DNAJC3 EDA EDA2R EFL1 EIF2AK3 EIF2S3 ELMO2 ELN ERGIC1 EYS FAM161A FBN1 FGF8 FGFR1 FOS FOXC2 FOXH1 FOXP3 FSCN2 FUZ FXN GAS1 GATA3 GATA6 GCK GJA1 GJB3 GJB4 GLI2 GLIS3 GLRX5 GNAS GPIHBP1 GPR101 GPR35 GTF2I GTF2IRD1 GUCA1B HAMP HBB HERC2 HESX1 HFE HGSNAT HJV HLA-DQB1 HLA-DRB1 HMGA2 HNF1A HNF1B HNF4A HYMAI IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT88 IGF1R IL2RA IMPDH1 IMPG2 INS INSR IPW KCNJ11 KCTD1 KDSR KIAA1549 KIZ KLF11 KLHL7 KRAS LEMD3 LEP LEPR LHX1 LIG4 LIMK1 LIPE LMF1 LMNA LRAT MAFA MAGEL2 MAK MC4R MERTK MKKS MKRN3 MKRN3-AS1 MLXIPL MST1 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW ND1 ND4 ND5 ND6 NDN NDP NEK2 NEUROD1 NEUROG3 NHP2 NKX2-5 NODAL NOP10 NPAP1 NR2E3 NRL NSMCE2 OFD1 OTX2 PALB2 PALLD PARN PAX4 PCARE PCNT PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PDX1 PEX1 PEX10 PEX6 PIK3R1 PLAGL1 PLCD1 PLIN1 PNPLA2 PNPLA6 POC1A POLD1 POLG POLG2 POMGNT1 PPARG PPP1R3A PRCD PRKACA PRKAR1A PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS1 PRSS2 PSTPIP1 PTCH1 PTF1A PWAR1 PWRN1 RBP3 RDH12 REEP6 RFC2 RGR RHO RLBP1 RNASEH2A RNASEH2B RNASEH2C ROM1 RP1 RP2 RP9 RPE65 RPGR RRM2B RTEL1 SAG SAMHD1 SARS2 SBDS SCAPER SEMA4A SHH SIX3 SLC16A2 SLC19A2 SLC25A4 SLC29A3 SLC7A14 SMAD4 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOX2 SOX3 SPATA7 SPINK1 SRP54 STAT1 STAT3 STUB1 SUFU TBL2 TCF4 TDGF1 TERC TERT TGIF1 TINF2 TOPORS TP53 TREX1 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TTC7A TTC8 TTPA TUB TULP1 TWNK UBR1 USB1 USH2A USP8 VANGL1 WFS1 WRAP53 WRN XRCC4 ZBTB20 ZFP57 ZFYVE26 ZIC2 ZMPSTE24 ZNF408 ZNF513

Diseases (183) :606176 51 528 963 240300 144650 412 189427 208900 320360 209900 615981 613375 1333 676 612526 96253 3463 604928 602668 540000 48818 1775 219800 241080 445062 85282 3019 194050 33001 304790 95 229300 2237 600001 602485 317 610199 444490 79230 231214 465508 235200 703 94063 261265 93111 616026 614231 270450 606367 125852 769 615980 280365 79084 2348 147630 605231 649 617253 189439 280651 614613 260370 3220 3163 613877 98908 610717 614813 615381 254892 615830 610628 167800 609069 613845 49827 249270 168569 602782 614162 615952 1501 96 609286 2315 243800 411590 222300 614296 277700 616541 259050 100996 791 125853 610374 79085 64 203800 79095 481 3157 100 904 210900 54595 280200 609812 615703 435651 550 91 3464 811 616192 181 226980 1143 2833 3027 79299 125851 2248 616860 171 176270 612520 142330 600496 137920 125850 613370 508 2297 262190 616329 610582 2036 610508 66628 179494 99812 435660 79474 151660 248370 71529 606394 83620 436182 612225 210720 606392 247815 269880 2387 2377 79083 604367 69126 59 391487 412057 2596 225 436252 902 608612 99885 608594 269700 2255 96191 740 280356 65288 608189 99886 1667 601410
 

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