Human Phenotype Ontology 
Grandparent Node:
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Phenotypic abnormality (HP:0000118)help
Parent Node:
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Abnormal glucose homeostasis (HP:0011014)help
Parent Node:
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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:

 HPO-Disease-Gene Association for HP:0000819 and all of its descedant HPO terms  

InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameConceptIDSourceHGMD variantsClinVar variants
HP:0000819HP:0000819Diabetes mellitus0ABCC86833606176Permanent neonatal diabetes mellitusC1833104OMIM612245
HP:0000819HP:0000819Diabetes mellitus0AGPAT210555528Acute myeloblastic leukemia type 3ORPHA3885
HP:0000819HP:0000819Diabetes mellitus0AIP9049963Brachydactyly type A3C1862140ORPHA10895
HP:0000819HP:0000819Diabetes mellitus0APOE348412Cheilitis glandularisC0267034ORPHA6039
HP:0000819HP:0000819Diabetes mellitus0ARMC579798189427Cushing syndrome due to macronodular adrenal hyperplasiaORPHA467
HP:0000819HP:0000819Diabetes mellitus0ATM472208900Ataxia-telangiectasia syndromeC0004135OMIM9023267
HP:0000819HP:0000819Diabetes mellitus0BBS1582209900Bardet-Biedl syndromeC0752166OMIM99114
HP:0000819HP:0000819Diabetes mellitus0BBS4585209900Bardet-Biedl syndromeC0752166OMIM5087
HP:0000819HP:0000819Diabetes mellitus0BSCL226580528Acute myeloblastic leukemia type 3ORPHA45105
HP:0000819HP:0000819Diabetes mellitus0CAV1857528Acute myeloblastic leukemia type 3ORPHA1111
HP:0000819HP:0000819Diabetes mellitus0CAV1857612526Lipodystrophy, congenital generalized, type 3C2675861OMIM1111
HP:0000819HP:0000819Diabetes mellitus0CISD24938563463Wolfram syndromeORPHA43
HP:0000819HP:0000819Diabetes mellitus0CISD2493856604928Wolfram syndrome 2C1858028OMIM43
HP:0000819HP:0000819Diabetes mellitus0CNBP7555602668Myotonic dystrophy type 2C0752354OMIM11
HP:0000819HP:0000819Diabetes mellitus0COX14512540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0COX24513540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0COX34514540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0CP135648818AceruloplasminemiaORPHA51115
HP:0000819HP:0000819Diabetes mellitus0CP1356604290Deficiency of ferroxidaseC0878682OMIM51115
HP:0000819HP:0000819Diabetes mellitus0CTNS1497219800Nephropathic cystinosisC0010690OMIM141178
HP:0000819HP:0000819Diabetes mellitus0CYTB4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0DCAF1780067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalitiesC0342286OMIM1287
HP:0000819HP:0000819Diabetes mellitus0FOS2353528Acute myeloblastic leukemia type 3ORPHA2
HP:0000819HP:0000819Diabetes mellitus0FXN2395229300Friedreich ataxia 1C1856689OMIM6518
HP:0000819HP:0000819Diabetes mellitus0GATA62627600001Pancreatic agenesis and congenital heart diseaseC1838780OMIM7437
HP:0000819HP:0000819Diabetes mellitus0GCK2645602485Hyperinsulinemic hypoglycemia familial 3C1865290OMIM778237
HP:0000819HP:0000819Diabetes mellitus0GCK2645606176Permanent neonatal diabetes mellitusC1833104OMIM778237
HP:0000819HP:0000819Diabetes mellitus0GJA12697317Sacral hemangiomas multiple congenital abnormalitiesORPHA10568
HP:0000819HP:0000819Diabetes mellitus0GJB32707317Sacral hemangiomas multiple congenital abnormalitiesORPHA3774
HP:0000819HP:0000819Diabetes mellitus0GJB4127534317Sacral hemangiomas multiple congenital abnormalitiesORPHA2112
HP:0000819HP:0000819Diabetes mellitus0GLIS3169792610199Diabetes mellitus, neonatal, with congenital hypothyroidismC1857775OMIM9143
HP:0000819HP:0000819Diabetes mellitus0GNAS2778189427Cushing syndrome due to macronodular adrenal hyperplasiaORPHA259101
HP:0000819HP:0000819Diabetes mellitus0GPR10183550963Brachydactyly type A3C1862140ORPHA185
HP:0000819HP:0000819Diabetes mellitus0HAMP5781779230Hemochromatosis type 2ORPHA1515
HP:0000819HP:0000819Diabetes mellitus0HFE3077235200Hemochromatosis type 1C0392514OMIM5938
HP:0000819HP:0000819Diabetes mellitus0HFE214873879230Hemochromatosis type 2ORPHA5038
HP:0000819HP:0000819Diabetes mellitus0HLA-DQB13119703Bullous pemphigoidORPHA12
HP:0000819HP:0000819Diabetes mellitus0HLA-DRB13123703Bullous pemphigoidORPHA232
HP:0000819HP:0000819Diabetes mellitus0HNF1B692826126517q12 microdeletion syndromeORPHA20390
HP:0000819HP:0000819Diabetes mellitus0HNF1B692893111Renal cysts and diabetes syndromeORPHA20390
HP:0000819HP:0000819Diabetes mellitus0HNF4A317293111Renal cysts and diabetes syndromeORPHA149138
HP:0000819HP:0000819Diabetes mellitus0IER3IP151124614231Microcephaly, epilepsy, and diabetes syndromeC3280240OMIM36
HP:0000819HP:0000819Diabetes mellitus0INS3630606176Permanent neonatal diabetes mellitusC1833104OMIM7662
HP:0000819HP:0000819Diabetes mellitus0INSR3643769Rabson-Mendenhall syndromeORPHA179229
HP:0000819HP:0000819Diabetes mellitus0KCNJ113767606176Permanent neonatal diabetes mellitusC1833104OMIM175127
HP:0000819HP:0000819Diabetes mellitus0LHX1397526126517q12 microdeletion syndromeORPHA7
HP:0000819HP:0000819Diabetes mellitus0LMNA40002348Familial partial lipodystrophy, Dunnigan typeORPHA495645
HP:0000819HP:0000819Diabetes mellitus0LMNA400079084Familial partial lipodystrophy, Köbberling typeORPHA495645
HP:0000819HP:0000819Diabetes mellitus0MKKS8195209900Bardet-Biedl syndromeC0752166OMIM5769
HP:0000819HP:0000819Diabetes mellitus0MKKS8195605231Bardet-Biedl syndrome 6C1858054OMIM5769
HP:0000819HP:0000819Diabetes mellitus0ND14535540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0ND54540540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0ND64541540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0PDE11A50940189439Primary pigmented nodular adrenocortical diseaseORPHA1913
HP:0000819HP:0000819Diabetes mellitus0PDE4D5144280651Acrodysostosis with multiple hormone resistanceORPHA33113
HP:0000819HP:0000819Diabetes mellitus0PDE8B8622189439Primary pigmented nodular adrenocortical diseaseORPHA975
HP:0000819HP:0000819Diabetes mellitus0PDX13651606176Permanent neonatal diabetes mellitusC1833104OMIM3030
HP:0000819HP:0000819Diabetes mellitus0PLIN15346613877Familial partial lipodystrophy 4C3151268OMIM819
HP:0000819HP:0000819Diabetes mellitus0POLD15424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndromeC3715192OMIM20731
HP:0000819HP:0000819Diabetes mellitus0PPARG5468528Acute myeloblastic leukemia type 3ORPHA5242
HP:0000819HP:0000819Diabetes mellitus0PRKACA5566615830Pigmented nodular adrenocortical disease, primary, 4C4014425OMIM42
HP:0000819HP:0000819Diabetes mellitus0PRKACA5566189439Primary pigmented nodular adrenocortical diseaseORPHA42
HP:0000819HP:0000819Diabetes mellitus0PRKAR1A5573280651Acrodysostosis with multiple hormone resistanceORPHA174134
HP:0000819HP:0000819Diabetes mellitus0PRKAR1A5573189439Primary pigmented nodular adrenocortical diseaseORPHA174134
HP:0000819HP:0000819Diabetes mellitus0PRSS15644167800Hereditary pancreatitisC0238339OMIM6151
HP:0000819HP:0000819Diabetes mellitus0SARS254938613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisC3151209OMIM460
HP:0000819HP:0000819Diabetes mellitus0SDCCAG810806209900Bardet-Biedl syndromeC0752166OMIM1861
HP:0000819HP:0000819Diabetes mellitus0SLC19A210560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafnessC0342287OMIM4855
HP:0000819HP:0000819Diabetes mellitus0SLC19A21056049827Thiamine-responsive megaloblastic anemia syndromeORPHA4855
HP:0000819HP:0000819Diabetes mellitus0SLC29A355315602782Histiocytosis-lymphadenopathy plus syndromeC1864445OMIM2268
HP:0000819HP:0000819Diabetes mellitus0SPINK16690167800Hereditary pancreatitisC0238339OMIM4734
HP:0000819HP:0000819Diabetes mellitus0TRNC4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNF4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNK4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNL14567540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNQ4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNS14574540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNS24575540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNV4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0TRNW4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND strokeC0162671OMIM
HP:0000819HP:0000819Diabetes mellitus0UBR1197131243800Johanson-Blizzard syndromeC0175692OMIM6425
HP:0000819HP:0000819Diabetes mellitus0USP8910196253Cushing diseaseORPHA17
HP:0000819HP:0000819Diabetes mellitus0WFS17466222300Diabetes mellitus AND insipidus with optic atrophy AND deafnessC0043207OMIM353389
HP:0000819HP:0000819Diabetes mellitus0WFS174663463Wolfram syndromeORPHA353389
HP:0000819HP:0000819Diabetes mellitus0WFS17466411590Wolfram-like syndromeORPHA353389
HP:0000819HP:0000819Diabetes mellitus0WRN7486277700Werner syndromeC0043119OMIM106310
HP:0000819HP:0000819Diabetes mellitus0XRCC47518616541Short stature, microcephaly, and endocrine dysfunctionC4225288OMIM159
HP:0000819HP:0005978Type II diabetes mellitus1ABCC86833125853Diabetes mellitus type 2C0011860OMIM612245
HP:0000819HP:0100651Type I diabetes mellitus1AIRE326240300Polyglandular autoimmune syndrome, type 1C0085859OMIM12692
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1AKT220879085AKT2-related familial partial lipodystrophyORPHA312
HP:0000819HP:0005978Type II diabetes mellitus1AKT2208125853Diabetes mellitus type 2C0011860OMIM312
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ALMS17840203800Alstrom syndromeC0268425OMIM282404
HP:0000819HP:0005978Type II diabetes mellitus1ALMS1784064Fountain syndromeC0795944ORPHA282404
HP:0000819HP:0005978Type II diabetes mellitus1AMACR2360079095Congenital bile acid synthesis defect type 4ORPHA1344
HP:0000819HP:0004904Maturity-onset diabetes of the young1BLK640613375Maturity-onset diabetes of the young, type 11C3150618OMIM1775
HP:0000819HP:0005978Type II diabetes mellitus1BLM641210900Bloom syndromeC0005859OMIM97314
HP:0000819HP:0004904Maturity-onset diabetes of the young1CEL1056609812Maturity-onset diabetes of the young, type 8C1853297OMIM1325
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CIDEC63924435651CIDEC-related familial partial lipodystrophyORPHA18
HP:0000819HP:0005978Type II diabetes mellitus1COX14512550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1COX24513550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1COX34514550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1CYP19A1158891Malignant melanoma, childhoodORPHA7260
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1DCAF17800673464Woodhouse-Sakati syndromeORPHA1287
HP:0000819HP:0100651Type I diabetes mellitus1DNAJC35611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitusC4015436OMIM33
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1EIF2AK39451226980Wolcott-Rallison dysplasiaC0432217OMIM7465
HP:0000819HP:0100651Type I diabetes mellitus1EIF2AK39451226980Wolcott-Rallison dysplasiaC0432217OMIM7465
HP:0000819HP:0100651Type I diabetes mellitus1FOXP350943304790Insulin-dependent diabetes mellitus secretory diarrhea syndromeC0342288OMIM8632
HP:0000819HP:0009800Maternal diabetes1FUZ801993027Iris dysplasia hypertelorism deafnessORPHA33
HP:0000819HP:0005978Type II diabetes mellitus1GCK2645125853Diabetes mellitus type 2C0011860OMIM778237
HP:0000819HP:0004904Maturity-onset diabetes of the young1GCK2645125851Maturity-onset diabetes of the young, type 2C1841962OMIM778237
HP:0000819HP:0100651Type I diabetes mellitus1HNF1A6927612520Diabetes mellitus, insulin-dependent, 20C2675866OMIM519161
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1A6927142330Hepatic adenomas, familialC1840646OMIM519161
HP:0000819HP:0005978Type II diabetes mellitus1HNF1A6927600496Maturity-onset diabetes of the young, type 3C1838100OMIM519161
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1A6927600496Maturity-onset diabetes of the young, type 3C1838100OMIM519161
HP:0000819HP:0005978Type II diabetes mellitus1HNF1B6928125853Diabetes mellitus type 2C0011860OMIM20390
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF4A3172125850Maturity-onset diabetes of the young, type 1C1852093OMIM149138
HP:0000819HP:0100651Type I diabetes mellitus1INS3630125852Diabetes mellitus, insulin-dependent, 2C1852092OMIM7662
HP:0000819HP:0004904Maturity-onset diabetes of the young1INS3630613370Maturity-onset diabetes of the young, type 10C3150617OMIM7662
HP:0000819HP:0005978Type II diabetes mellitus1INSR3643508Acroosteolysis dominant typeORPHA179229
HP:0000819HP:0005978Type II diabetes mellitus1INSR36432297Fetal brain disruption sequenceORPHA179229
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INSR3643262190Pineal hyperplasia AND diabetes mellitus syndromeC0271695OMIM179229
HP:0000819HP:0001953Diabetic ketoacidosis1INSR3643262190Pineal hyperplasia AND diabetes mellitus syndromeC0271695OMIM179229
HP:0000819HP:0004904Maturity-onset diabetes of the young1KCNJ113767616329Maturity-onset diabetes of the young, type 13C4225365OMIM175127
HP:0000819HP:0009800Maternal diabetes1KCNJ113767616329Maturity-onset diabetes of the young, type 13C4225365OMIM175127
HP:0000819HP:0100651Type I diabetes mellitus1KCTD12842522036Scalp-ear-nipple syndromeORPHA1011
HP:0000819HP:0004904Maturity-onset diabetes of the young1KLF118462610508Maturity-onset diabetes of the young, type 7C1864839OMIM578
HP:0000819HP:0005978Type II diabetes mellitus1KLF118462610508Maturity-onset diabetes of the young, type 7C1864839OMIM578
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LEP395266628Obesity due to congenital leptin deficiencyORPHA2447
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LEPR3953179494Obesity due to leptin receptor gene deficiencyORPHA3646
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LIPE3991435660LIPE-related familial partial lipodystrophyORPHA87
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA400079474Atypical Werner syndromeORPHA495645
HP:0000819HP:0005978Type II diabetes mellitus1LMNA400079474Atypical Werner syndromeORPHA495645
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA4000151660Familial partial lipodystrophy 2C1720860OMIM495645
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA4000137871Laminopathy type Decaudain-VigourouxORPHA495645
HP:0000819HP:0005978Type II diabetes mellitus1LMNA4000137871Laminopathy type Decaudain-VigourouxORPHA495645
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA4000248370Mandibuloacral dysostosisC0432291OMIM495645
HP:0000819HP:0005978Type II diabetes mellitus1ND14535550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1ND44538550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1ND54540550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1ND64541550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0004904Maturity-onset diabetes of the young1NEUROD14760606394Maturity-onset diabetes of the young, type 6C1853371OMIM1632
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1NSMCE2286053436182Microcephalic primordial dwarfism-insulin resistance syndromeORPHA22
HP:0000819HP:0005978Type II diabetes mellitus1PAX45078125853Diabetes mellitus type 2C0011860OMIM1255
HP:0000819HP:0004904Maturity-onset diabetes of the young1PAX45078612225Maturity-onset diabetes of the young, type 9C2677132OMIM1255
HP:0000819HP:0005978Type II diabetes mellitus1PCNT5116210720Microcephalic osteodysplastic primordial dwarfism type 2C0432246OMIM82531
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDX13651606392Maturity-onset diabetes of the young, type 4C1833382OMIM3030
HP:0000819HP:0005978Type II diabetes mellitus1PDX13651606392Maturity-onset diabetes of the young, type 4C1833382OMIM3030
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PIK3R15295269880SHORT syndromeC0878684OMIM2143
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PPARG5468604367Familial partial lipodystrophy 3C1720861OMIM5242
HP:0000819HP:0009800Maternal diabetes1PPARG5468604367Familial partial lipodystrophy 3C1720861OMIM5242
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PPARG546879083PPARG-related familial partial lipodystrophyORPHA5242
HP:0000819HP:0005978Type II diabetes mellitus1PPP1R3A5506125853Diabetes mellitus type 2C0011860OMIM412
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PPP1R3A5506604367Familial partial lipodystrophy 3C1720861OMIM412
HP:0000819HP:0009800Maternal diabetes1PPP1R3A5506604367Familial partial lipodystrophy 3C1720861OMIM412
HP:0000819HP:0100651Type I diabetes mellitus1STAT16772391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeORPHA11289
HP:0000819HP:0005978Type II diabetes mellitus1TRNE4556225Radial ray agenesisORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNF4558550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNH4564550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNK4566225Radial ray agenesisORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNL14567550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNL14567225Radial ray agenesisORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNQ4572550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNS14574550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNS24575550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0005978Type II diabetes mellitus1TRNW4578550Adenylosuccinate lyase deficiencyC0268126ORPHA
HP:0000819HP:0009800Maternal diabetes1VANGL1818393027Iris dysplasia hypertelorism deafnessORPHA16111
HP:0000819HP:0005978Type II diabetes mellitus1WRN7486902Blepharo naso facial syndrome Van maldergem typeORPHA106310
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1XRCC47518436182Microcephalic primordial dwarfism-insulin resistance syndromeORPHA159
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ZMPSTE2410269608612Mandibuloacral dysplasia with type B lipodystrophyC1837756OMIM3383
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ABCC8683399885Permanent neonatal diabetes mellitusORPHA612245
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2AGPAT210555608594Congenital generalized lipodystrophy type 1C1720862OMIM3885
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BSCL226580269700Congenital generalized lipodystrophy type 2C1720863OMIM45105
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GATA626272255Familial non-immune hyperthyroidismORPHA7437
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GCK264599885Permanent neonatal diabetes mellitusORPHA778237
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2INS363099885Permanent neonatal diabetes mellitusORPHA7662
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KCNJ11376799885Permanent neonatal diabetes mellitusORPHA175127
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDX13651260370Pancreatic agenesis, congenitalC1850096OMIM3030
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDX1365199885Permanent neonatal diabetes mellitusORPHA3030
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PLIN15346280356PLIN1-related familial partial lipodystrophyORPHA819
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PTF1A25629765288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeORPHA1322
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SPINK16690608189Tropical calcific pancreatitisC1842402OMIM4734
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ABCC8683399886Transient neonatal diabetes mellitusORPHA612245
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ABCC86833610374Transient neonatal diabetes mellitus 2C1835887OMIM612245
HP:0000819HP:0008255Transient neonatal diabetes mellitus3EIF2AK394511667Dandy-Walker malformation with facial hemangiomaORPHA7465
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HYMAI5706199886Transient neonatal diabetes mellitusORPHA
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HYMAI57061601410Transient neonatal diabetes mellitus 1C1832386OMIM
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KCNJ11376799886Transient neonatal diabetes mellitusORPHA175127
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KCNJ113767610582Transient neonatal diabetes mellitus 3C1864623OMIM175127
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PLAGL1532599886Transient neonatal diabetes mellitusORPHA1
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ZFP5734617199886Transient neonatal diabetes mellitusORPHA1430
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ZFP57346171601410Transient neonatal diabetes mellitus 1C1832386OMIM1430
Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (110) :ABCC8 AGPAT2 AIP AIRE AKT2 ALMS1 AMACR APOE ARMC5 ATM BBS1 BBS4 BLK BLM BSCL2 CAV1 CEL CIDEC CISD2 CNBP COX1 COX2 COX3 CP CTNS CYP19A1 CYTB DCAF17 DNAJC3 EIF2AK3 FOS FOXP3 FUZ FXN GATA6 GCK GJA1 GJB3 GJB4 GLIS3 GNAS GPR101 HAMP HFE HFE2 HLA-DQB1 HLA-DRB1 HNF1A HNF1B HNF4A HYMAI IER3IP1 INS INSR KCNJ11 KCTD1 KLF11 LEP LEPR LHX1 LIPE LMNA MKKS ND1 ND4 ND5 ND6 NEUROD1 NSMCE2 PAX4 PCNT PDE11A PDE4D PDE8B PDX1 PIK3R1 PLAGL1 PLIN1 POLD1 PPARG PPP1R3A PRKACA PRKAR1A PRSS1 PTF1A SARS2 SDCCAG8 SLC19A2 SLC29A3 SPINK1 STAT1 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW UBR1 USP8 VANGL1 WFS1 WRN XRCC4 ZFP57 ZMPSTE24

Diseases (109) :606176 528 963 412 189427 208900 209900 612526 3463 604928 602668 540000 48818 604290 219800 241080 229300 600001 602485 317 610199 79230 235200 703 261265 93111 614231 769 2348 79084 605231 189439 280651 613877 615381 615830 167800 613845 249270 49827 602782 243800 96253 222300 411590 277700 616541 125853 240300 79085 203800 64 79095 613375 210900 609812 435651 550 91 3464 616192 226980 304790 3027 125851 612520 142330 600496 125850 125852 613370 508 2297 262190 616329 2036 610508 66628 179494 435660 79474 151660 137871 248370 606394 436182 612225 210720 606392 269880 604367 79083 391487 225 902 608612 99885 608594 269700 2255 260370 280356 65288 608189 99886 610374 1667 601410 610582
 
       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 endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormality of circulating hormone level (HP:0003117) 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
..expandAbnormality of urine hormone level (HP:0012029) help
..expandDiabetes insipidus (HP:0000873) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.