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:
 
       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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000819HP:0000819Diabetes mellitus0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosa826
HP:0000819HP:0000819Diabetes mellitus0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasisHP:0040284 - Very rare111
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiency245
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H683359OMIM:125853Diabetes mellitus, noninsulin-dependent245
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H683359OMIM:610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2245
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitus245
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H683359ORPHA:552MODY245
HP:0000819HP:0000819Diabetes mellitus0ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0000819HP:0000819Diabetes mellitus0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000819HP:0000819Diabetes mellitus0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional116
HP:0000819HP:0000819Diabetes mellitus0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosa2
HP:0000819HP:0000819Diabetes mellitus0AGPAT2 CL E G H10555325ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent85
HP:0000819HP:0000819Diabetes mellitus0AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0000819HP:0000819Diabetes mellitus0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosa175
HP:0000819HP:0000819Diabetes mellitus0AHR CL E G H196348ORPHA:791Retinitis pigmentosa2
HP:0000819HP:0000819Diabetes mellitus0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0000819HP:0000819Diabetes mellitus0AIP CL E G H9049358ORPHA:99725Pituitary gigantism95
HP:0000819HP:0000819Diabetes mellitus0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000819HP:0000819Diabetes mellitus0AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophy12
HP:0000819HP:0000819Diabetes mellitus0AKT2 CL E G H208392OMIM:125853Diabetes mellitus, noninsulin-dependent12
HP:0000819HP:0000819Diabetes mellitus0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000819HP:0000819Diabetes mellitus0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0000819HP:0000819Diabetes mellitus0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0000819HP:0000819Diabetes mellitus0APOA5 CL E G H11651917288OMIM:144650Hyperlipoproteinemia, type V.7
HP:0000819HP:0000819Diabetes mellitus0APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0000819HP:0000819Diabetes mellitus0APPL1 CL E G H2606024035OMIM:616511Maturity-onset diabetes of the young, type 14.2
HP:0000819HP:0000819Diabetes mellitus0APPL1 CL E G H2606024035ORPHA:552MODY2
HP:0000819HP:0000819Diabetes mellitus0AR CL E G H367644ORPHA:481Kennedy disease125
HP:0000819HP:0000819Diabetes mellitus0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosa6
HP:0000819HP:0000819Diabetes mellitus0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosa3
HP:0000819HP:0000819Diabetes mellitus0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosa1
HP:0000819HP:0000819Diabetes mellitus0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000819HP:0000819Diabetes mellitus0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosa29
HP:0000819HP:0000819Diabetes mellitus0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0000819HP:0000819Diabetes mellitus0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000819HP:0000819Diabetes mellitus0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040282 - Frequent3267
HP:0000819HP:0000819Diabetes mellitus0ATP6 CL E G H45087414ORPHA:320360MT-ATP6-related mitochondrial spastic paraplegiaHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040282 - Frequent169
HP:0000819HP:0000819Diabetes mellitus0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000819HP:0000819Diabetes mellitus0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosa114
HP:0000819HP:0000819Diabetes mellitus0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 297
HP:0000819HP:0000819Diabetes mellitus0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosa97
HP:0000819HP:0000819Diabetes mellitus0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosa182
HP:0000819HP:0000819Diabetes mellitus0BLK CL E G H6401057OMIM:613375Maturity-onset diabetes of the young, type 11.75
HP:0000819HP:0000819Diabetes mellitus0BLK CL E G H6401057ORPHA:552MODY75
HP:0000819HP:0000819Diabetes mellitus0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0000819HP:0000819Diabetes mellitus0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0000819HP:0000819Diabetes mellitus0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0000819HP:0000819Diabetes mellitus0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0000819HP:0000819Diabetes mellitus0BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040282 - Frequent276
HP:0000819HP:0000819Diabetes mellitus0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional5769
HP:0000819HP:0000819Diabetes mellitus0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional7642
HP:0000819HP:0000819Diabetes mellitus0BSCL2 CL E G H2658015832ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent105
HP:0000819HP:0000819Diabetes mellitus0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0000819HP:0000819Diabetes mellitus0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosa23
HP:0000819HP:0000819Diabetes mellitus0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000819HP:0000819Diabetes mellitus0CASR CL E G H8461514ORPHA:676Hereditary chronic pancreatitisHP:0040283 - Occasional272
HP:0000819HP:0000819Diabetes mellitus0CAT CL E G H8471516ORPHA:926Acatalasemia5
HP:0000819HP:0000819Diabetes mellitus0CAV1 CL E G H8571527ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent11
HP:0000819HP:0000819Diabetes mellitus0CAV1 CL E G H8571527OMIM:612526Lipodystrophy, congenital generalized, type 311
HP:0000819HP:0000819Diabetes mellitus0CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0000819HP:0000819Diabetes mellitus0CAVIN1 CL E G H2841199688ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent48
HP:0000819HP:0000819Diabetes mellitus0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000819HP:0000819Diabetes mellitus0CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040282 - Frequent636
HP:0000819HP:0000819Diabetes mellitus0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosa147
HP:0000819HP:0000819Diabetes mellitus0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0000819HP:0000819Diabetes mellitus0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional289
HP:0000819HP:0000819Diabetes mellitus0CDON CL E G H5093717104ORPHA:280200Microform holoprosencephaly200
HP:0000819HP:0000819Diabetes mellitus0CEL CL E G H10561848OMIM:609812Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction25
HP:0000819HP:0000819Diabetes mellitus0CEL CL E G H10561848ORPHA:552MODY25
HP:0000819HP:0000819Diabetes mellitus0CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0000819HP:0000819Diabetes mellitus0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0000819HP:0000819Diabetes mellitus0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosa71
HP:0000819HP:0000819Diabetes mellitus0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosa
HP:0000819HP:0000819Diabetes mellitus0CFTR CL E G H10801884ORPHA:676Hereditary chronic pancreatitisHP:0040283 - Occasional1371
HP:0000819HP:0000819Diabetes mellitus0CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary.1371
HP:0000819HP:0000819Diabetes mellitus0CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophy8
HP:0000819HP:0000819Diabetes mellitus0CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0000819HP:0000819Diabetes mellitus0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040281 - Very frequent3
HP:0000819HP:0000819Diabetes mellitus0CISD2 CL E G H49385624212OMIM:604928Wolfram syndrome 23
HP:0000819HP:0000819Diabetes mellitus0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0000819HP:0000819Diabetes mellitus0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosa60
HP:0000819HP:0000819Diabetes mellitus0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0000819HP:0000819Diabetes mellitus0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosa44
HP:0000819HP:0000819Diabetes mellitus0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosa164
HP:0000819HP:0000819Diabetes mellitus0CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis2
HP:0000819HP:0000819Diabetes mellitus0CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome2
HP:0000819HP:0000819Diabetes mellitus0COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type284
HP:0000819HP:0000819Diabetes mellitus0CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0000819HP:0000819Diabetes mellitus0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0000819HP:0000819Diabetes mellitus0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0000819HP:0000819Diabetes mellitus0CPA1 CL E G H13572296ORPHA:676Hereditary chronic pancreatitisHP:0040283 - Occasional5
HP:0000819HP:0000819Diabetes mellitus0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000819HP:0000819Diabetes mellitus0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosa156
HP:0000819HP:0000819Diabetes mellitus0CRX CL E G H14062383ORPHA:791Retinitis pigmentosa158
HP:0000819HP:0000819Diabetes mellitus0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0000819HP:0000819Diabetes mellitus0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0000819HP:0000819Diabetes mellitus0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0000819HP:0000819Diabetes mellitus0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000819HP:0000819Diabetes mellitus0CTRC CL E G H113302523ORPHA:676Hereditary chronic pancreatitisHP:0040283 - Occasional39
HP:0000819HP:0000819Diabetes mellitus0CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary.39
HP:0000819HP:0000819Diabetes mellitus0CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0000819HP:0000819Diabetes mellitus0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0000819HP:0000819Diabetes mellitus0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0000819HP:0000819Diabetes mellitus0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000819HP:0000819Diabetes mellitus0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosa47
HP:0000819HP:0000819Diabetes mellitus0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosa1
HP:0000819HP:0000819Diabetes mellitus0DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephaly22
HP:0000819HP:0000819Diabetes mellitus0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0000819HP:0000819Diabetes mellitus0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000819HP:0000819Diabetes mellitus0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylation1
HP:0000819HP:0000819Diabetes mellitus0DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephaly3
HP:0000819HP:0000819Diabetes mellitus0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0000819HP:0000819Diabetes mellitus0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare5
HP:0000819HP:0000819Diabetes mellitus0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus3
HP:0000819HP:0000819Diabetes mellitus0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040282 - Frequent3
HP:0000819HP:0000819Diabetes mellitus0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0DNASE2 CL E G H17772960OMIM:619858
HP:0000819HP:0000819Diabetes mellitus0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0000819HP:0000819Diabetes mellitus0DUT CL E G H18543078OMIM:620044
HP:0000819HP:0000819Diabetes mellitus0EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasia115
HP:0000819HP:0000819Diabetes mellitus0EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasia11
HP:0000819HP:0000819Diabetes mellitus0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare1
HP:0000819HP:0000819Diabetes mellitus0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0000819HP:0000819Diabetes mellitus0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0000819HP:0000819Diabetes mellitus0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040283 - Occasional8
HP:0000819HP:0000819Diabetes mellitus0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0ELMO2 CL E G H6391617233ORPHA:3019Ramon syndromeHP:0040283 - Occasional3
HP:0000819HP:0000819Diabetes mellitus0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000819HP:0000819Diabetes mellitus0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000819HP:0000819Diabetes mellitus0ENPP1 CL E G H51673356OMIM:125853Diabetes mellitus, noninsulin-dependent151
HP:0000819HP:0000819Diabetes mellitus0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosa209
HP:0000819HP:0000819Diabetes mellitus0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosa56
HP:0000819HP:0000819Diabetes mellitus0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndrome1361
HP:0000819HP:0000819Diabetes mellitus0FCGR3B CL E G H22153620ORPHA:464370Neonatal alloimmune neutropenia5
HP:0000819HP:0000819Diabetes mellitus0FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephaly17
HP:0000819HP:0000819Diabetes mellitus0FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephaly172
HP:0000819HP:0000819Diabetes mellitus0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0000819HP:0000819Diabetes mellitus0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0FLT1 CL E G H23213763ORPHA:275555Preeclampsia11
HP:0000819HP:0000819Diabetes mellitus0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000819HP:0000819Diabetes mellitus0FOS CL E G H23533796ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040283 - Occasional20
HP:0000819HP:0000819Diabetes mellitus0FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephaly48
HP:0000819HP:0000819Diabetes mellitus0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0000819HP:0000819Diabetes mellitus0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0000819HP:0000819Diabetes mellitus0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0000819HP:0000819Diabetes mellitus0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional61
HP:0000819HP:0000819Diabetes mellitus0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosa26
HP:0000819HP:0000819Diabetes mellitus0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequence3
HP:0000819HP:0000819Diabetes mellitus0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040283 - Occasional18
HP:0000819HP:0000819Diabetes mellitus0FXN CL E G H23953951OMIM:229300Friedreich ataxia 1.18
HP:0000819HP:0000819Diabetes mellitus0GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephaly2
HP:0000819HP:0000819Diabetes mellitus0GATA3 CL E G H26254172ORPHA:2237Hypoparathyroidism-sensorineural deafness-renal disease syndromeHP:0040283 - Occasional83
HP:0000819HP:0000819Diabetes mellitus0GATA6 CL E G H26274174OMIM:600001Pancreatic agenesis and congenital heart defects.37
HP:0000819HP:0000819Diabetes mellitus0GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndrome37
HP:0000819HP:0000819Diabetes mellitus0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H26454195OMIM:125853Diabetes mellitus, noninsulin-dependent237
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H26454195OMIM:606176DIABETES MELLITUS, PERMANENT NEONATAL; PNDM237
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H26454195OMIM:602485Hyperinsulinemic hypoglycemia, familial, 3.HP:0003584 - Late onset237
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiency237
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitus237
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H26454195OMIM:125851Maturity-onset diabetes of the young, type II237
HP:0000819HP:0000819Diabetes mellitus0GCK CL E G H26454195ORPHA:552MODY237
HP:0000819HP:0000819Diabetes mellitus0GJA1 CL E G H26974274ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent68
HP:0000819HP:0000819Diabetes mellitus0GJA1 CL E G H26974274ORPHA:2248Hypoplastic left heart syndrome68
HP:0000819HP:0000819Diabetes mellitus0GJB3 CL E G H27074285ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent74
HP:0000819HP:0000819Diabetes mellitus0GJB4 CL E G H1275344286ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent12
HP:0000819HP:0000819Diabetes mellitus0GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephaly173
HP:0000819HP:0000819Diabetes mellitus0GLIS3 CL E G H16979228510OMIM:610199Diabetes mellitus, neonatal, with congenital hypothyroidism.HP:0003623 - Neonatal onset143
HP:0000819HP:0000819Diabetes mellitus0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0000819HP:0000819Diabetes mellitus0GPD2 CL E G H28204456OMIM:125853Diabetes mellitus, noninsulin-dependent3
HP:0000819HP:0000819Diabetes mellitus0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0000819HP:0000819Diabetes mellitus0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0000819HP:0000819Diabetes mellitus0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000819HP:0000819Diabetes mellitus0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000819HP:0000819Diabetes mellitus0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000819HP:0000819Diabetes mellitus0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosa36
HP:0000819HP:0000819Diabetes mellitus0HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent15
HP:0000819HP:0000819Diabetes mellitus0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040284 - Very rare580
HP:0000819HP:0000819Diabetes mellitus0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040283 - Occasional580
HP:0000819HP:0000819Diabetes mellitus0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0000819HP:0000819Diabetes mellitus0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000819HP:0000819Diabetes mellitus0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0000819HP:0000819Diabetes mellitus0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0000819HP:0000819Diabetes mellitus0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0000819HP:0000819Diabetes mellitus0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosa86
HP:0000819HP:0000819Diabetes mellitus0HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:0000819HP:0000819Diabetes mellitus0HLA-DQB1 CL E G H31194944ORPHA:703Bullous pemphigoidHP:0040281 - Very frequent
HP:0000819HP:0000819Diabetes mellitus0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:0000819HP:0000819Diabetes mellitus0HLA-DRB1 CL E G H31234948ORPHA:703Bullous pemphigoidHP:0040281 - Very frequent2
HP:0000819HP:0000819Diabetes mellitus0HMGA1 CL E G H31595010OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0000819HP:0000819Diabetes mellitus0HMGA2 CL E G H80915009ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional2
HP:0000819HP:0000819Diabetes mellitus0HNF1A CL E G H692711621OMIM:612520DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20161
HP:0000819HP:0000819Diabetes mellitus0HNF1A CL E G H692711621OMIM:222100Diabetes mellitus, insulin-dependent-1.161
HP:0000819HP:0000819Diabetes mellitus0HNF1A CL E G H692711621OMIM:125853Diabetes mellitus, noninsulin-dependent161
HP:0000819HP:0000819Diabetes mellitus0HNF1A CL E G H692711621OMIM:142330Hepatic adenomas, familial161
HP:0000819HP:0000819Diabetes mellitus0HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiency161
HP:0000819HP:0000819Diabetes mellitus0HNF1A CL E G H692711621OMIM:600496Maturity-onset diabetes of the young, type III161
HP:0000819HP:0000819Diabetes mellitus0HNF1A CL E G H692711621ORPHA:552MODY161
HP:0000819HP:0000819Diabetes mellitus0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040282 - Frequent90
HP:0000819HP:0000819Diabetes mellitus0HNF1B CL E G H692811630OMIM:125853Diabetes mellitus, noninsulin-dependent90
HP:0000819HP:0000819Diabetes mellitus0HNF1B CL E G H692811630ORPHA:93111HNF1B-related autosomal dominant tubulointerstitial kidney diseaseHP:0040282 - Frequent90
HP:0000819HP:0000819Diabetes mellitus0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0000819HP:0000819Diabetes mellitus0HNF4A CL E G H31725024OMIM:125853Diabetes mellitus, noninsulin-dependent138
HP:0000819HP:0000819Diabetes mellitus0HNF4A CL E G H31725024OMIM:616026Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngHP:0040283 - Occasional138
HP:0000819HP:0000819Diabetes mellitus0HNF4A CL E G H31725024OMIM:125850Maturity-onset diabetes of the young, type 1138
HP:0000819HP:0000819Diabetes mellitus0HNF4A CL E G H31725024ORPHA:552MODY138
HP:0000819HP:0000819Diabetes mellitus0HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1
HP:0000819HP:0000819Diabetes mellitus0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000819HP:0000819Diabetes mellitus0HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitus
HP:0000819HP:0000819Diabetes mellitus0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosa
HP:0000819HP:0000819Diabetes mellitus0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosa30
HP:0000819HP:0000819Diabetes mellitus0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndrome.6
HP:0000819HP:0000819Diabetes mellitus0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional28
HP:0000819HP:0000819Diabetes mellitus0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosa148
HP:0000819HP:0000819Diabetes mellitus0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosa48
HP:0000819HP:0000819Diabetes mellitus0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosa3
HP:0000819HP:0000819Diabetes mellitus0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0000819HP:0000819Diabetes mellitus0IGF2BP2 CL E G H1064428867OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0000819HP:0000819Diabetes mellitus0IGHG2 CL E G H35015526ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency1
HP:0000819HP:0000819Diabetes mellitus0IGKC CL E G H35145716ORPHA:183675Recurrent infections associated with rare immunoglobulin isotypes deficiency5
HP:0000819HP:0000819Diabetes mellitus0IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000819HP:0000819Diabetes mellitus0IL2RA CL E G H35596008OMIM:601942Diabetes mellitus, insulin-dependent, 10.65
HP:0000819HP:0000819Diabetes mellitus0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0000819HP:0000819Diabetes mellitus0IL6 CL E G H35696018OMIM:222100Diabetes mellitus, insulin-dependent-1.2
HP:0000819HP:0000819Diabetes mellitus0IL6 CL E G H35696018OMIM:125853Diabetes mellitus, noninsulin-dependent2
HP:0000819HP:0000819Diabetes mellitus0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosa52
HP:0000819HP:0000819Diabetes mellitus0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosa4
HP:0000819HP:0000819Diabetes mellitus0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosa120
HP:0000819HP:0000819Diabetes mellitus0INS CL E G H36306081OMIM:125852Diabetes mellitus, insulin-dependent, 2.62
HP:0000819HP:0000819Diabetes mellitus0INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0000819HP:0000819Diabetes mellitus0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitus62
HP:0000819HP:0000819Diabetes mellitus0INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0000819HP:0000819Diabetes mellitus0INS CL E G H36306081ORPHA:552MODY62
HP:0000819HP:0000819Diabetes mellitus0INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type A229
HP:0000819HP:0000819Diabetes mellitus0INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities229
HP:0000819HP:0000819Diabetes mellitus0INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndrome229
HP:0000819HP:0000819Diabetes mellitus0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000819HP:0000819Diabetes mellitus0IRS1 CL E G H36676125OMIM:125853Diabetes mellitus, noninsulin-dependent5
HP:0000819HP:0000819Diabetes mellitus0IRS2 CL E G H86606126OMIM:125853Diabetes mellitus, noninsulin-dependent3
HP:0000819HP:0000819Diabetes mellitus0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000819HP:0000819Diabetes mellitus0ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiency3
HP:0000819HP:0000819Diabetes mellitus0ITPR3 CL E G H37106182OMIM:222100Diabetes mellitus, insulin-dependent-1.
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiency127
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257OMIM:125853Diabetes mellitus, noninsulin-dependent127
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257OMIM:610582Diabetes mellitus, transient neonatal, 3127
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitus127
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257OMIM:616329Maturity-onset diabetes of the young, type 13127
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257ORPHA:552MODY127
HP:0000819HP:0000819Diabetes mellitus0KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitus127
HP:0000819HP:0000819Diabetes mellitus0KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndrome11
HP:0000819HP:0000819Diabetes mellitus0KDSR CL E G H25314021ORPHA:317Erythrokeratodermia variabilisHP:0040282 - Frequent4
HP:0000819HP:0000819Diabetes mellitus0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosa
HP:0000819HP:0000819Diabetes mellitus0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosa3
HP:0000819HP:0000819Diabetes mellitus0KLF11 CL E G H846211811OMIM:610508MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY778
HP:0000819HP:0000819Diabetes mellitus0KLF11 CL E G H846211811ORPHA:552MODY78
HP:0000819HP:0000819Diabetes mellitus0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosa42
HP:0000819HP:0000819Diabetes mellitus0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional196
HP:0000819HP:0000819Diabetes mellitus0LEMD3 CL E G H2359228887ORPHA:9406312q14 microdeletion syndromeHP:0040283 - Occasional68
HP:0000819HP:0000819Diabetes mellitus0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0000819HP:0000819Diabetes mellitus0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiencyHP:0040284 - Very rare46
HP:0000819HP:0000819Diabetes mellitus0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0000819HP:0000819Diabetes mellitus0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0LIG4 CL E G H39816601ORPHA:99812LIG4 syndrome88
HP:0000819HP:0000819Diabetes mellitus0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0LIPC CL E G H39906619OMIM:125853Diabetes mellitus, noninsulin-dependent35
HP:0000819HP:0000819Diabetes mellitus0LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophy7
HP:0000819HP:0000819Diabetes mellitus0LIPE CL E G H39916621OMIM:615980Lipodystrophy, familial partial, type 6.7
HP:0000819HP:0000819Diabetes mellitus0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H40006636ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathyHP:0040281 - Very frequent645
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H40006636ORPHA:2348Familial partial lipodystrophy, Dunnigan typeHP:0040281 - Very frequent645
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H40006636ORPHA:79084Familial partial lipodystrophy, Köbberling typeHP:0040281 - Very frequent645
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0000819HP:0000819Diabetes mellitus0LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia645
HP:0000819HP:0000819Diabetes mellitus0LMNB2 CL E G H848236638OMIM:608709Lipodystrophy, partial, acquired, susceptibility to.11
HP:0000819HP:0000819Diabetes mellitus0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosa62
HP:0000819HP:0000819Diabetes mellitus0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000819HP:0000819Diabetes mellitus0LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 2.26
HP:0000819HP:0000819Diabetes mellitus0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus.
HP:0000819HP:0000819Diabetes mellitus0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0000819HP:0000819Diabetes mellitus0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000819HP:0000819Diabetes mellitus0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0000819HP:0000819Diabetes mellitus0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0000819HP:0000819Diabetes mellitus0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0000819HP:0000819Diabetes mellitus0MAK CL E G H41176816ORPHA:791Retinitis pigmentosa53
HP:0000819HP:0000819Diabetes mellitus0MAPK8IP1 CL E G H94796882OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0000819HP:0000819Diabetes mellitus0MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiency54
HP:0000819HP:0000819Diabetes mellitus0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 141
HP:0000819HP:0000819Diabetes mellitus0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylation1
HP:0000819HP:0000819Diabetes mellitus0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantism462
HP:0000819HP:0000819Diabetes mellitus0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosa75
HP:0000819HP:0000819Diabetes mellitus0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000819HP:0000819Diabetes mellitus0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000819HP:0000819Diabetes mellitus0MKKS CL E G H81957108OMIM:605231Bardet-Biedl syndrome 6.69
HP:0000819HP:0000819Diabetes mellitus0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000819HP:0000819Diabetes mellitus0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000819HP:0000819Diabetes mellitus0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000819HP:0000819Diabetes mellitus0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000819HP:0000819Diabetes mellitus0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum2
HP:0000819HP:0000819Diabetes mellitus0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrum64
HP:0000819HP:0000819Diabetes mellitus0MOG CL E G H43407197OMIM:614250Narcolepsy 71
HP:0000819HP:0000819Diabetes mellitus0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0000819HP:0000819Diabetes mellitus0MTHFR CL E G H45247436ORPHA:563609Isolated anencephaly183
HP:0000819HP:0000819Diabetes mellitus0MTHFR CL E G H45247436ORPHA:563612Isolated exencephaly183
HP:0000819HP:0000819Diabetes mellitus0MTNR1B CL E G H45447464OMIM:125853Diabetes mellitus, noninsulin-dependent4
HP:0000819HP:0000819Diabetes mellitus0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000819HP:0000819Diabetes mellitus0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000819HP:0000819Diabetes mellitus0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000819HP:0000819Diabetes mellitus0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional7
HP:0000819HP:0000819Diabetes mellitus0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional32
HP:0000819HP:0000819Diabetes mellitus0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional1
HP:0000819HP:0000819Diabetes mellitus0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional40
HP:0000819HP:0000819Diabetes mellitus0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional26
HP:0000819HP:0000819Diabetes mellitus0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional31
HP:0000819HP:0000819Diabetes mellitus0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional50
HP:0000819HP:0000819Diabetes mellitus0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional34
HP:0000819HP:0000819Diabetes mellitus0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional3
HP:0000819HP:0000819Diabetes mellitus0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional9
HP:0000819HP:0000819Diabetes mellitus0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional16
HP:0000819HP:0000819Diabetes mellitus0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional81
HP:0000819HP:0000819Diabetes mellitus0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional65
HP:0000819HP:0000819Diabetes mellitus0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional22
HP:0000819HP:0000819Diabetes mellitus0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional27
HP:0000819HP:0000819Diabetes mellitus0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional21
HP:0000819HP:0000819Diabetes mellitus0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional38
HP:0000819HP:0000819Diabetes mellitus0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional42
HP:0000819HP:0000819Diabetes mellitus0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional74
HP:0000819HP:0000819Diabetes mellitus0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional27
HP:0000819HP:0000819Diabetes mellitus0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosa5
HP:0000819HP:0000819Diabetes mellitus0NEUROD1 CL E G H47607762OMIM:125853Diabetes mellitus, noninsulin-dependent32
HP:0000819HP:0000819Diabetes mellitus0NEUROD1 CL E G H47607762OMIM:606394MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY632
HP:0000819HP:0000819Diabetes mellitus0NEUROD1 CL E G H47607762ORPHA:552MODY32
HP:0000819HP:0000819Diabetes mellitus0NEUROG3 CL E G H5067413806ORPHA:83620Enteric anendocrinosis5
HP:0000819HP:0000819Diabetes mellitus0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0000819HP:0000819Diabetes mellitus0NKX2-5 CL E G H14822488ORPHA:2248Hypoplastic left heart syndrome90
HP:0000819HP:0000819Diabetes mellitus0NODAL CL E G H48387865ORPHA:280200Microform holoprosencephaly45
HP:0000819HP:0000819Diabetes mellitus0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0000819HP:0000819Diabetes mellitus0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0000819HP:0000819Diabetes mellitus0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000819HP:0000819Diabetes mellitus0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0000819HP:0000819Diabetes mellitus0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosa58
HP:0000819HP:0000819Diabetes mellitus0NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040282 - Frequent79
HP:0000819HP:0000819Diabetes mellitus0NRL CL E G H49018002ORPHA:791Retinitis pigmentosa30
HP:0000819HP:0000819Diabetes mellitus0NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome2
HP:0000819HP:0000819Diabetes mellitus0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0000819HP:0000819Diabetes mellitus0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional89
HP:0000819HP:0000819Diabetes mellitus0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0000819HP:0000819Diabetes mellitus0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0000819HP:0000819Diabetes mellitus0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0000819HP:0000819Diabetes mellitus0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosa201
HP:0000819HP:0000819Diabetes mellitus0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040284 - Very rare214
HP:0000819HP:0000819Diabetes mellitus0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0000819HP:0000819Diabetes mellitus0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0000819HP:0000819Diabetes mellitus0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional1349
HP:0000819HP:0000819Diabetes mellitus0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional192
HP:0000819HP:0000819Diabetes mellitus0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0000819HP:0000819Diabetes mellitus0PAX4 CL E G H50788618OMIM:612227Diabetes mellitus, ketosis-prone.55
HP:0000819HP:0000819Diabetes mellitus0PAX4 CL E G H50788618OMIM:125853Diabetes mellitus, noninsulin-dependent55
HP:0000819HP:0000819Diabetes mellitus0PAX4 CL E G H50788618OMIM:612225MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY955
HP:0000819HP:0000819Diabetes mellitus0PAX4 CL E G H50788618ORPHA:552MODY55
HP:0000819HP:0000819Diabetes mellitus0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosa
HP:0000819HP:0000819Diabetes mellitus0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiency24
HP:0000819HP:0000819Diabetes mellitus0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0000819HP:0000819Diabetes mellitus0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0000819HP:0000819Diabetes mellitus0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistanceHP:0040283 - Occasional113
HP:0000819HP:0000819Diabetes mellitus0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent113
HP:0000819HP:0000819Diabetes mellitus0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosa116
HP:0000819HP:0000819Diabetes mellitus0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosa126
HP:0000819HP:0000819Diabetes mellitus0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosa18
HP:0000819HP:0000819Diabetes mellitus0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0000819HP:0000819Diabetes mellitus0PDX1 CL E G H36516107OMIM:125853Diabetes mellitus, noninsulin-dependent30
HP:0000819HP:0000819Diabetes mellitus0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitus30
HP:0000819HP:0000819Diabetes mellitus0PDX1 CL E G H36516107OMIM:606392Maturity-onset diabetes of the young, type 430
HP:0000819HP:0000819Diabetes mellitus0PDX1 CL E G H36516107ORPHA:552MODY30
HP:0000819HP:0000819Diabetes mellitus0PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital.HP:0003593 - Infantile onset30
HP:0000819HP:0000819Diabetes mellitus0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0000819HP:0000819Diabetes mellitus0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency75
HP:0000819HP:0000819Diabetes mellitus0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0000819HP:0000819Diabetes mellitus0PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrum11
HP:0000819HP:0000819Diabetes mellitus0PIK3R1 CL E G H52958979OMIM:269880Short syndrome43
HP:0000819HP:0000819Diabetes mellitus0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040282 - Frequent43
HP:0000819HP:0000819Diabetes mellitus0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000819HP:0000819Diabetes mellitus0PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitus
HP:0000819HP:0000819Diabetes mellitus0PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalis5
HP:0000819HP:0000819Diabetes mellitus0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 4.19
HP:0000819HP:0000819Diabetes mellitus0PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0000819HP:0000819Diabetes mellitus0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathyHP:0040283 - Occasional65
HP:0000819HP:0000819Diabetes mellitus0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040283 - Occasional65
HP:0000819HP:0000819Diabetes mellitus0PNPLA2 CL E G H5710430802ORPHA:565612Triglyceride deposit cardiomyovasculopathyHP:0040282 - Frequent65
HP:0000819HP:0000819Diabetes mellitus0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndrome103
HP:0000819HP:0000819Diabetes mellitus0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisHP:0040283 - Occasional10
HP:0000819HP:0000819Diabetes mellitus0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0000819HP:0000819Diabetes mellitus0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0000819HP:0000819Diabetes mellitus0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare464
HP:0000819HP:0000819Diabetes mellitus0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare45
HP:0000819HP:0000819Diabetes mellitus0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000819HP:0000819Diabetes mellitus0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosa180
HP:0000819HP:0000819Diabetes mellitus0PPARG CL E G H54689236ORPHA:528Congenital generalized lipodystrophyHP:0040282 - Frequent42
HP:0000819HP:0000819Diabetes mellitus0PPARG CL E G H54689236OMIM:125853Diabetes mellitus, noninsulin-dependent42
HP:0000819HP:0000819Diabetes mellitus0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0000819HP:0000819Diabetes mellitus0PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040281 - Very frequent42
HP:0000819HP:0000819Diabetes mellitus0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040281 - Very frequent2
HP:0000819HP:0000819Diabetes mellitus0PPP1R3A CL E G H55069291OMIM:125853Diabetes mellitus, noninsulin-dependent12
HP:0000819HP:0000819Diabetes mellitus0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosa39
HP:0000819HP:0000819Diabetes mellitus0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0000819HP:0000819Diabetes mellitus0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0000819HP:0000819Diabetes mellitus0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent134
HP:0000819HP:0000819Diabetes mellitus0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0000819HP:0000819Diabetes mellitus0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0000819HP:0000819Diabetes mellitus0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmiaHP:0040283 - Occasional9
HP:0000819HP:0000819Diabetes mellitus0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0000819HP:0000819Diabetes mellitus0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosa110
HP:0000819HP:0000819Diabetes mellitus0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosa28
HP:0000819HP:0000819Diabetes mellitus0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosa70
HP:0000819HP:0000819Diabetes mellitus0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosa2
HP:0000819HP:0000819Diabetes mellitus0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosa51
HP:0000819HP:0000819Diabetes mellitus0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosa94
HP:0000819HP:0000819Diabetes mellitus0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosa159
HP:0000819HP:0000819Diabetes mellitus0PRSS1 CL E G H56449475ORPHA:676Hereditary chronic pancreatitisHP:0040283 - Occasional51
HP:0000819HP:0000819Diabetes mellitus0PRSS1 CL E G H56449475OMIM:167800Pancreatitis, hereditary.51
HP:0000819HP:0000819Diabetes mellitus0PRSS2 CL E G H56459483ORPHA:676Hereditary chronic pancreatitisHP:0040283 - Occasional1
HP:0000819HP:0000819Diabetes mellitus0PRSS2 CL E G H56459483OMIM:167800Pancreatitis, hereditary.1
HP:0000819HP:0000819Diabetes mellitus0PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndrome96
HP:0000819HP:0000819Diabetes mellitus0PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephaly665
HP:0000819HP:0000819Diabetes mellitus0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0000819HP:0000819Diabetes mellitus0PTF1A CL E G H25629723734ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome22
HP:0000819HP:0000819Diabetes mellitus0PTPN1 CL E G H57709642OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0000819HP:0000819Diabetes mellitus0PTPN22 CL E G H261919652OMIM:222100Diabetes mellitus, insulin-dependent-1.3
HP:0000819HP:0000819Diabetes mellitus0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0000819HP:0000819Diabetes mellitus0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onsetHP:0040284 - Very rare6
HP:0000819HP:0000819Diabetes mellitus0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000819HP:0000819Diabetes mellitus0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000819HP:0000819Diabetes mellitus0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0000819HP:0000819Diabetes mellitus0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosa108
HP:0000819HP:0000819Diabetes mellitus0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosa45
HP:0000819HP:0000819Diabetes mellitus0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosa5
HP:0000819HP:0000819Diabetes mellitus0RETN CL E G H5672920389OMIM:125853Diabetes mellitus, noninsulin-dependent1
HP:0000819HP:0000819Diabetes mellitus0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0RGR CL E G H59959990ORPHA:791Retinitis pigmentosa28
HP:0000819HP:0000819Diabetes mellitus0RHO CL E G H601010012ORPHA:791Retinitis pigmentosa107
HP:0000819HP:0000819Diabetes mellitus0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosa47
HP:0000819HP:0000819Diabetes mellitus0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional33
HP:0000819HP:0000819Diabetes mellitus0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional34
HP:0000819HP:0000819Diabetes mellitus0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional60
HP:0000819HP:0000819Diabetes mellitus0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional
HP:0000819HP:0000819Diabetes mellitus0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosa38
HP:0000819HP:0000819Diabetes mellitus0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosa111
HP:0000819HP:0000819Diabetes mellitus0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosa284
HP:0000819HP:0000819Diabetes mellitus0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosa45
HP:0000819HP:0000819Diabetes mellitus0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosa14
HP:0000819HP:0000819Diabetes mellitus0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosa129
HP:0000819HP:0000819Diabetes mellitus0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosa200
HP:0000819HP:0000819Diabetes mellitus0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare125
HP:0000819HP:0000819Diabetes mellitus0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0000819HP:0000819Diabetes mellitus0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0000819HP:0000819Diabetes mellitus0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0000819HP:0000819Diabetes mellitus0SAG CL E G H629510521ORPHA:791Retinitis pigmentosa32
HP:0000819HP:0000819Diabetes mellitus0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional55
HP:0000819HP:0000819Diabetes mellitus0SARS2 CL E G H5493817697OMIM:613845Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome.60
HP:0000819HP:0000819Diabetes mellitus0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare26
HP:0000819HP:0000819Diabetes mellitus0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosa
HP:0000819HP:0000819Diabetes mellitus0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosa48
HP:0000819HP:0000819Diabetes mellitus0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0000819HP:0000819Diabetes mellitus0SHH CL E G H646910848ORPHA:280200Microform holoprosencephaly67
HP:0000819HP:0000819Diabetes mellitus0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0000819HP:0000819Diabetes mellitus0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000819HP:0000819Diabetes mellitus0SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephaly32
HP:0000819HP:0000819Diabetes mellitus0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0000819HP:0000819Diabetes mellitus0SLC19A2 CL E G H1056010938ORPHA:49827Thiamine-responsive megaloblastic anemia syndromeHP:0040281 - Very frequent55
HP:0000819HP:0000819Diabetes mellitus0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndrome.55
HP:0000819HP:0000819Diabetes mellitus0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare68
HP:0000819HP:0000819Diabetes mellitus0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0000819HP:0000819Diabetes mellitus0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000819HP:0000819Diabetes mellitus0SLC2A2 CL E G H651411006OMIM:125853Diabetes mellitus, noninsulin-dependent71
HP:0000819HP:0000819Diabetes mellitus0SLC2A2 CL E G H651411006ORPHA:2088Fanconi-Bickel syndromeHP:0040283 - Occasional71
HP:0000819HP:0000819Diabetes mellitus0SLC30A8 CL E G H16902620303OMIM:125853Diabetes mellitus, noninsulin-dependent3
HP:0000819HP:0000819Diabetes mellitus0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000819HP:0000819Diabetes mellitus0SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0000819HP:0000819Diabetes mellitus0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosa4
HP:0000819HP:0000819Diabetes mellitus0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional504
HP:0000819HP:0000819Diabetes mellitus0SMPD4 CL E G H5562732949OMIM:618622NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA1
HP:0000819HP:0000819Diabetes mellitus0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000819HP:0000819Diabetes mellitus0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000819HP:0000819Diabetes mellitus0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosa83
HP:0000819HP:0000819Diabetes mellitus0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0000819HP:0000819Diabetes mellitus0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0000819HP:0000819Diabetes mellitus0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0000819HP:0000819Diabetes mellitus0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0000819HP:0000819Diabetes mellitus0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0000819HP:0000819Diabetes mellitus0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosa48
HP:0000819HP:0000819Diabetes mellitus0SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0000819HP:0000819Diabetes mellitus0SPINK1 CL E G H669011244ORPHA:676Hereditary chronic pancreatitisHP:0040283 - Occasional34
HP:0000819HP:0000819Diabetes mellitus0SPINK1 CL E G H669011244OMIM:167800Pancreatitis, hereditary.34
HP:0000819HP:0000819Diabetes mellitus0SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis34
HP:0000819HP:0000819Diabetes mellitus0SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0000819HP:0000819Diabetes mellitus0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040284 - Very rare
HP:0000819HP:0000819Diabetes mellitus0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0000819HP:0000819Diabetes mellitus0STAT1 CL E G H677211362OMIM:614162Immunodeficiency 31CHP:0040283 - Occasional89
HP:0000819HP:0000819Diabetes mellitus0STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0000819HP:0000819Diabetes mellitus0STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitus110
HP:0000819HP:0000819Diabetes mellitus0STOX1 CL E G H21973623508ORPHA:275555Preeclampsia2
HP:0000819HP:0000819Diabetes mellitus0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0000819HP:0000819Diabetes mellitus0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephaly124
HP:0000819HP:0000819Diabetes mellitus0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0000819HP:0000819Diabetes mellitus0TCF7L2 CL E G H693411641OMIM:125853Diabetes mellitus, noninsulin-dependent4
HP:0000819HP:0000819Diabetes mellitus0TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephaly1
HP:0000819HP:0000819Diabetes mellitus0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0000819HP:0000819Diabetes mellitus0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0000819HP:0000819Diabetes mellitus0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0000819HP:0000819Diabetes mellitus0TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephaly32
HP:0000819HP:0000819Diabetes mellitus0THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0000819HP:0000819Diabetes mellitus0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional1
HP:0000819HP:0000819Diabetes mellitus0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0000819HP:0000819Diabetes mellitus0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0000819HP:0000819Diabetes mellitus0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000819HP:0000819Diabetes mellitus0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040283 - Occasional4
HP:0000819HP:0000819Diabetes mellitus0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0000819HP:0000819Diabetes mellitus0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosa61
HP:0000819HP:0000819Diabetes mellitus0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0000819HP:0000819Diabetes mellitus0TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040282 - Frequent911
HP:0000819HP:0000819Diabetes mellitus0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040283 - Occasional911
HP:0000819HP:0000819Diabetes mellitus0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040283 - Occasional56
HP:0000819HP:0000819Diabetes mellitus0TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 17
HP:0000819HP:0000819Diabetes mellitus0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040281 - Very frequent7
HP:0000819HP:0000819Diabetes mellitus0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafness
HP:0000819HP:0000819Diabetes mellitus0TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitus
HP:0000819HP:0000819Diabetes mellitus0TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafness
HP:0000819HP:0000819Diabetes mellitus0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafness
HP:0000819HP:0000819Diabetes mellitus0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0000819HP:0000819Diabetes mellitus0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0000819HP:0000819Diabetes mellitus0TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrum26
HP:0000819HP:0000819Diabetes mellitus0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosa41
HP:0000819HP:0000819Diabetes mellitus0TTPA CL E G H727412404ORPHA:96Ataxia with vitamin E deficiencyHP:0040283 - Occasional62
HP:0000819HP:0000819Diabetes mellitus0TUB CL E G H727512406ORPHA:791Retinitis pigmentosa1
HP:0000819HP:0000819Diabetes mellitus0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosa66
HP:0000819HP:0000819Diabetes mellitus0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare113
HP:0000819HP:0000819Diabetes mellitus0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3HP:0040283 - Occasional113
HP:0000819HP:0000819Diabetes mellitus0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0000819HP:0000819Diabetes mellitus0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040283 - Occasional25
HP:0000819HP:0000819Diabetes mellitus0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0000819HP:0000819Diabetes mellitus0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0000819HP:0000819Diabetes mellitus0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosa777
HP:0000819HP:0000819Diabetes mellitus0USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040282 - Frequent1
HP:0000819HP:0000819Diabetes mellitus0USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040282 - Frequent7
HP:0000819HP:0000819Diabetes mellitus0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequence111
HP:0000819HP:0000819Diabetes mellitus0VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephaly2
HP:0000819HP:0000819Diabetes mellitus0VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephaly2
HP:0000819HP:0000819Diabetes mellitus0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H746612762OMIM:125853Diabetes mellitus, noninsulin-dependent389
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040281 - Very frequent389
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040281 - Very frequent389
HP:0000819HP:0000819Diabetes mellitus0WFS1 CL E G H746612762OMIM:614296Wolfram-Like syndrome, autosomal dominantHP:0040283 - Occasional389
HP:0000819HP:0000819Diabetes mellitus0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0000819HP:0000819Diabetes mellitus0WRN CL E G H748612791OMIM:277700Werner syndrome.310
HP:0000819HP:0000819Diabetes mellitus0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0000819HP:0000819Diabetes mellitus0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndrome9
HP:0000819HP:0000819Diabetes mellitus0XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome9
HP:0000819HP:0000819Diabetes mellitus0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0000819HP:0000819Diabetes mellitus0YIPF5 CL E G H8155524877OMIM:619278MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0000819HP:0000819Diabetes mellitus0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000819HP:0000819Diabetes mellitus0ZFP57 CL E G H34617118791OMIM:601410Diabetes mellitus, transient neonatal, 130
HP:0000819HP:0000819Diabetes mellitus0ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitus30
HP:0000819HP:0000819Diabetes mellitus0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040283 - Occasional189
HP:0000819HP:0000819Diabetes mellitus0ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephaly34
HP:0000819HP:0000819Diabetes mellitus0ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy83
HP:0000819HP:0000819Diabetes mellitus0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosa14
HP:0000819HP:0000819Diabetes mellitus0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosa27
HP:0000819HP:0000819Diabetes mellitus0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0000819HP:0005978Type II diabetes mellitus1ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional826
HP:0000819HP:0100651Type I diabetes mellitus1ABCC8 CL E G H683359ORPHA:276575Autosomal dominant hyperinsulinism due to SUR1 deficiencyHP:0040284 - Very rare245
HP:0000819HP:0005978Type II diabetes mellitus1ABCC8 CL E G H683359OMIM:125853Diabetes mellitus, noninsulin-dependent.245
HP:0000819HP:0100651Type I diabetes mellitus1ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0000819HP:0005978Type II diabetes mellitus1ABCC8 CL E G H683359OMIM:610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2245
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ABCC8 CL E G H683359OMIM:610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2245
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitus245
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ABCC8 CL E G H683359ORPHA:552MODYHP:0040283 - Occasional245
HP:0000819HP:0004904Maturity-onset diabetes of the young1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0000819HP:0001953Diabetic ketoacidosis1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare245
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0000819HP:0009800Maternal diabetes1ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional245
HP:0000819HP:0100651Type I diabetes mellitus1ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0000819HP:0005978Type II diabetes mellitus1AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 185
HP:0000819HP:0005978Type II diabetes mellitus1AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional175
HP:0000819HP:0005978Type II diabetes mellitus1AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0000819HP:0005978Type II diabetes mellitus1AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0000819HP:0100651Type I diabetes mellitus1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1AKT2 CL E G H208392ORPHA:79085AKT2-related familial partial lipodystrophyHP:0040282 - Frequent12
HP:0000819HP:0005978Type II diabetes mellitus1AKT2 CL E G H208392OMIM:125853Diabetes mellitus, noninsulin-dependent.12
HP:0000819HP:0005978Type II diabetes mellitus1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000819HP:0005978Type II diabetes mellitus1AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 4HP:0040281 - Very frequent44
HP:0000819HP:0004904Maturity-onset diabetes of the young1APPL1 CL E G H2606024035OMIM:616511Maturity-onset diabetes of the young, type 14.2
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1APPL1 CL E G H2606024035ORPHA:552MODYHP:0040283 - Occasional2
HP:0000819HP:0005978Type II diabetes mellitus1AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040283 - Occasional125
HP:0000819HP:0005978Type II diabetes mellitus1ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional6
HP:0000819HP:0005978Type II diabetes mellitus1ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0000819HP:0005978Type II diabetes mellitus1ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0000819HP:0005978Type II diabetes mellitus1ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional29
HP:0000819HP:0009800Maternal diabetes1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0000819HP:0005978Type II diabetes mellitus1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional114
HP:0000819HP:0005978Type II diabetes mellitus1BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional97
HP:0000819HP:0005978Type II diabetes mellitus1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional182
HP:0000819HP:0004904Maturity-onset diabetes of the young1BLK CL E G H6401057OMIM:613375Maturity-onset diabetes of the young, type 11.75
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BLK CL E G H6401057ORPHA:552MODYHP:0040283 - Occasional75
HP:0000819HP:0005978Type II diabetes mellitus1BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000819HP:0005978Type II diabetes mellitus1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional276
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0000819HP:0005978Type II diabetes mellitus1BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0000819HP:0005978Type II diabetes mellitus1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional23
HP:0000819HP:0005978Type II diabetes mellitus1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000819HP:0100651Type I diabetes mellitus1CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040284 - Very rare5
HP:0000819HP:0005978Type II diabetes mellitus1CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040283 - Occasional5
HP:0000819HP:0100651Type I diabetes mellitus1CAV1 CL E G H8571527OMIM:606721Lipodystrophy, familial partial, type 711
HP:0000819HP:0005978Type II diabetes mellitus1CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional147
HP:0000819HP:0009800Maternal diabetes1CDON CL E G H5093717104ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional200
HP:0000819HP:0004904Maturity-onset diabetes of the young1CEL CL E G H10561848OMIM:609812Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction.25
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CEL CL E G H10561848ORPHA:552MODYHP:0040283 - Occasional25
HP:0000819HP:0005978Type II diabetes mellitus1CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0000819HP:0005978Type II diabetes mellitus1CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0000819HP:0005978Type II diabetes mellitus1CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional71
HP:0000819HP:0005978Type II diabetes mellitus1CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CIDEC CL E G H6392424229ORPHA:435651CIDEC-related familial partial lipodystrophyHP:0040281 - Very frequent8
HP:0000819HP:0001953Diabetic ketoacidosis1CIDEC CL E G H6392424229OMIM:615238Lipodystrophy, familial partial, type 58
HP:0000819HP:0001953Diabetic ketoacidosis1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0000819HP:0009800Maternal diabetes1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0000819HP:0100651Type I diabetes mellitus1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0000819HP:0005978Type II diabetes mellitus1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0000819HP:0005978Type II diabetes mellitus1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional60
HP:0000819HP:0005978Type II diabetes mellitus1CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0000819HP:0005978Type II diabetes mellitus1CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional44
HP:0000819HP:0005978Type II diabetes mellitus1CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional164
HP:0000819HP:0100651Type I diabetes mellitus1CNOT1 CL E G H230197877OMIM:618500Holoprosencephaly 12 with or without pancreatic agenesis.2
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndrome2
HP:0000819HP:0009800Maternal diabetes1COL2A1 CL E G H12802200ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick typeHP:0040283 - Occasional284
HP:0000819HP:0100651Type I diabetes mellitus1CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0000819HP:0005978Type II diabetes mellitus1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000819HP:0005978Type II diabetes mellitus1CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional156
HP:0000819HP:0005978Type II diabetes mellitus1CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional158
HP:0000819HP:0005978Type II diabetes mellitus1CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional88
HP:0000819HP:0005978Type II diabetes mellitus1CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0000819HP:0009800Maternal diabetes1CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0000819HP:0005978Type II diabetes mellitus1CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040282 - Frequent60
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0000819HP:0005978Type II diabetes mellitus1DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional47
HP:0000819HP:0005978Type II diabetes mellitus1DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0000819HP:0009800Maternal diabetes1DISP1 CL E G H8497619711ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional22
HP:0000819HP:0004904Maturity-onset diabetes of the young1DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000819HP:0004904Maturity-onset diabetes of the young1DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000819HP:0009800Maternal diabetes1DLL1 CL E G H285142908ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional3
HP:0000819HP:0005978Type II diabetes mellitus1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0000819HP:0100651Type I diabetes mellitus1DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.3
HP:0000819HP:0005978Type II diabetes mellitus1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1DNASE2 CL E G H17772960OMIM:619858
HP:0000819HP:0100651Type I diabetes mellitus1DUT CL E G H18543078OMIM:620044
HP:0000819HP:0100651Type I diabetes mellitus1EDA CL E G H18963157ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional115
HP:0000819HP:0100651Type I diabetes mellitus1EDA2R CL E G H6040117756ORPHA:181X-linked hypohidrotic ectodermal dysplasiaHP:0040283 - Occasional11
HP:0000819HP:0100651Type I diabetes mellitus1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndrome65
HP:0000819HP:0005978Type II diabetes mellitus1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000819HP:0005978Type II diabetes mellitus1ENPP1 CL E G H51673356OMIM:125853Diabetes mellitus, noninsulin-dependent.151
HP:0000819HP:0005978Type II diabetes mellitus1EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional209
HP:0000819HP:0005978Type II diabetes mellitus1FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional56
HP:0000819HP:0005978Type II diabetes mellitus1FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0000819HP:0009800Maternal diabetes1FCGR3B CL E G H22153620ORPHA:464370Neonatal alloimmune neutropeniaHP:0040283 - Occasional5
HP:0000819HP:0009800Maternal diabetes1FGF8 CL E G H22533686ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional17
HP:0000819HP:0009800Maternal diabetes1FGFR1 CL E G H22603688ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional172
HP:0000819HP:0009800Maternal diabetes1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0000819HP:0005978Type II diabetes mellitus1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0000819HP:0009800Maternal diabetes1FOXH1 CL E G H89283814ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional48
HP:0000819HP:0100651Type I diabetes mellitus1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040282 - Frequent32
HP:0000819HP:0100651Type I diabetes mellitus1FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0000819HP:0005978Type II diabetes mellitus1FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional26
HP:0000819HP:0009800Maternal diabetes1FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent3
HP:0000819HP:0009800Maternal diabetes1GAS1 CL E G H26194165ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional2
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndrome37
HP:0000819HP:0005978Type II diabetes mellitus1GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0000819HP:0005978Type II diabetes mellitus1GCK CL E G H26454195OMIM:125853Diabetes mellitus, noninsulin-dependent.237
HP:0000819HP:0100651Type I diabetes mellitus1GCK CL E G H26454195OMIM:606176DIABETES MELLITUS, PERMANENT NEONATAL; PNDM237
HP:0000819HP:0005978Type II diabetes mellitus1GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040283 - Occasional237
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitus237
HP:0000819HP:0004904Maturity-onset diabetes of the young1GCK CL E G H26454195OMIM:125851Maturity-onset diabetes of the young, type II.237
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1GCK CL E G H26454195ORPHA:552MODYHP:0040283 - Occasional237
HP:0000819HP:0009800Maternal diabetes1GJA1 CL E G H26974274ORPHA:2248Hypoplastic left heart syndromeHP:0040283 - Occasional68
HP:0000819HP:0009800Maternal diabetes1GLI2 CL E G H27364318ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional173
HP:0000819HP:0005978Type II diabetes mellitus1GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0000819HP:0005978Type II diabetes mellitus1GPD2 CL E G H28204456OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0000819HP:0100651Type I diabetes mellitus1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0000819HP:0005978Type II diabetes mellitus1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000819HP:0005978Type II diabetes mellitus1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000819HP:0005978Type II diabetes mellitus1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000819HP:0005978Type II diabetes mellitus1GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional36
HP:0000819HP:0005978Type II diabetes mellitus1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000819HP:0009800Maternal diabetes1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0000819HP:0005978Type II diabetes mellitus1HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional86
HP:0000819HP:0100651Type I diabetes mellitus1HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000819HP:0100651Type I diabetes mellitus1HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000819HP:0005978Type II diabetes mellitus1HMGA1 CL E G H31595010OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000819HP:0100651Type I diabetes mellitus1HNF1A CL E G H692711621OMIM:612520DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20161
HP:0000819HP:0005978Type II diabetes mellitus1HNF1A CL E G H692711621OMIM:125853Diabetes mellitus, noninsulin-dependent.161
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1A CL E G H692711621OMIM:142330Hepatic adenomas, familial.161
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040282 - Frequent161
HP:0000819HP:0009800Maternal diabetes1HNF1A CL E G H692711621ORPHA:324575Hyperinsulinism due to HNF1A deficiencyHP:0040283 - Occasional161
HP:0000819HP:0005978Type II diabetes mellitus1HNF1A CL E G H692711621OMIM:600496Maturity-onset diabetes of the young, type III.161
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1A CL E G H692711621OMIM:600496Maturity-onset diabetes of the young, type III.161
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HNF1A CL E G H692711621ORPHA:552MODYHP:0040283 - Occasional161
HP:0000819HP:0005978Type II diabetes mellitus1HNF1B CL E G H692811630OMIM:125853Diabetes mellitus, noninsulin-dependent.90
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0000819HP:0005978Type II diabetes mellitus1HNF4A CL E G H31725024OMIM:125853Diabetes mellitus, noninsulin-dependent.138
HP:0000819HP:0004904Maturity-onset diabetes of the young1HNF4A CL E G H31725024OMIM:125850Maturity-onset diabetes of the young, type 1.138
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HNF4A CL E G H31725024ORPHA:552MODYHP:0040283 - Occasional138
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000819HP:0009800Maternal diabetes1HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional
HP:0000819HP:0001953Diabetic ketoacidosis1HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitus
HP:0000819HP:0004904Maturity-onset diabetes of the young1HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0000819HP:0005978Type II diabetes mellitus1IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional30
HP:0000819HP:0005978Type II diabetes mellitus1IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional148
HP:0000819HP:0005978Type II diabetes mellitus1IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional48
HP:0000819HP:0005978Type II diabetes mellitus1IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0000819HP:0005978Type II diabetes mellitus1IGF2BP2 CL E G H1064428867OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000819HP:0100651Type I diabetes mellitus1IL18BP CL E G H100685987OMIM:618549HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0000819HP:0100651Type I diabetes mellitus1IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0000819HP:0005978Type II diabetes mellitus1IL6 CL E G H35696018OMIM:125853Diabetes mellitus, noninsulin-dependent.2
HP:0000819HP:0005978Type II diabetes mellitus1IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional52
HP:0000819HP:0005978Type II diabetes mellitus1IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional4
HP:0000819HP:0005978Type II diabetes mellitus1IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional120
HP:0000819HP:0100651Type I diabetes mellitus1INS CL E G H36306081OMIM:125852Diabetes mellitus, insulin-dependent, 2.62
HP:0000819HP:0001953Diabetic ketoacidosis1INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0000819HP:0100651Type I diabetes mellitus1INS CL E G H36306081OMIM:618858DIABETES MELLITUS, PERMANENT NEONATAL, 4; PNDM462
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitus62
HP:0000819HP:0004904Maturity-onset diabetes of the young1INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0000819HP:0001953Diabetic ketoacidosis1INS CL E G H36306081OMIM:613370MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY1062
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INS CL E G H36306081ORPHA:552MODYHP:0040283 - Occasional62
HP:0000819HP:0005978Type II diabetes mellitus1INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type AHP:0040281 - Very frequent229
HP:0000819HP:0001953Diabetic ketoacidosis1INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INSR CL E G H36436091OMIM:262190Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities.229
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040282 - Frequent229
HP:0000819HP:0001953Diabetic ketoacidosis1INSR CL E G H36436091ORPHA:769Rabson-Mendenhall syndromeHP:0040283 - Occasional229
HP:0000819HP:0005978Type II diabetes mellitus1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000819HP:0005978Type II diabetes mellitus1IRS1 CL E G H36676125OMIM:125853Diabetes mellitus, noninsulin-dependent.5
HP:0000819HP:0005978Type II diabetes mellitus1IRS2 CL E G H86606126OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0000819HP:0100651Type I diabetes mellitus1ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0000819HP:0100651Type I diabetes mellitus1ITCH CL E G H8373713890ORPHA:228426Syndromic multisystem autoimmune disease due to Itch deficiencyHP:0040283 - Occasional3
HP:0000819HP:0009800Maternal diabetes1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040283 - Occasional127
HP:0000819HP:0100651Type I diabetes mellitus1KCNJ11 CL E G H37676257ORPHA:276580Autosomal dominant hyperinsulinism due to Kir6.2 deficiencyHP:0040284 - Very rare127
HP:0000819HP:0005978Type II diabetes mellitus1KCNJ11 CL E G H37676257OMIM:125853Diabetes mellitus, noninsulin-dependent.127
HP:0000819HP:0100651Type I diabetes mellitus1KCNJ11 CL E G H37676257OMIM:618856DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2127
HP:0000819HP:0009800Maternal diabetes1KCNJ11 CL E G H37676257OMIM:610582Diabetes mellitus, transient neonatal, 3.127
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KCNJ11 CL E G H37676257OMIM:610582Diabetes mellitus, transient neonatal, 3127
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitus127
HP:0000819HP:0009800Maternal diabetes1KCNJ11 CL E G H37676257OMIM:616329Maturity-onset diabetes of the young, type 13.127
HP:0000819HP:0004904Maturity-onset diabetes of the young1KCNJ11 CL E G H37676257OMIM:616329Maturity-onset diabetes of the young, type 13.127
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040283 - Occasional127
HP:0000819HP:0004904Maturity-onset diabetes of the young1KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0000819HP:0001953Diabetic ketoacidosis1KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare127
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitus127
HP:0000819HP:0009800Maternal diabetes1KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional127
HP:0000819HP:0100651Type I diabetes mellitus1KCTD1 CL E G H28425218249ORPHA:2036Scalp-ear-nipple syndromeHP:0040282 - Frequent11
HP:0000819HP:0005978Type II diabetes mellitus1KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0000819HP:0005978Type II diabetes mellitus1KLF11 CL E G H846211811OMIM:610508MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY778
HP:0000819HP:0004904Maturity-onset diabetes of the young1KLF11 CL E G H846211811OMIM:610508MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY778
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1KLF11 CL E G H846211811ORPHA:552MODYHP:0040283 - Occasional78
HP:0000819HP:0005978Type II diabetes mellitus1KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional42
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040282 - Frequent47
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040282 - Frequent46
HP:0000819HP:0005978Type II diabetes mellitus1LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0000819HP:0005978Type II diabetes mellitus1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1LIPC CL E G H39906619OMIM:125853Diabetes mellitus, noninsulin-dependent.35
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LIPE CL E G H39916621ORPHA:435660LIPE-related familial partial lipodystrophyHP:0040281 - Very frequent7
HP:0000819HP:0005978Type II diabetes mellitus1LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000819HP:0005978Type II diabetes mellitus1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2.645
HP:0000819HP:0005978Type II diabetes mellitus1LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1LMNA CL E G H40006636OMIM:248370Mandibuloacral dysplasia.645
HP:0000819HP:0005978Type II diabetes mellitus1LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional62
HP:0000819HP:0100651Type I diabetes mellitus1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000819HP:0005978Type II diabetes mellitus1LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 226
HP:0000819HP:0005978Type II diabetes mellitus1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0000819HP:0005978Type II diabetes mellitus1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000819HP:0005978Type II diabetes mellitus1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000819HP:0005978Type II diabetes mellitus1MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional53
HP:0000819HP:0005978Type II diabetes mellitus1MAPK8IP1 CL E G H94796882OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000819HP:0005978Type II diabetes mellitus1MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiencyHP:0040283 - Occasional54
HP:0000819HP:0004904Maturity-onset diabetes of the young1MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000819HP:0004904Maturity-onset diabetes of the young1MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000819HP:0005978Type II diabetes mellitus1MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0000819HP:0005978Type II diabetes mellitus1MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional75
HP:0000819HP:0005978Type II diabetes mellitus1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000819HP:0100651Type I diabetes mellitus1MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0000819HP:0005978Type II diabetes mellitus1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000819HP:0005978Type II diabetes mellitus1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000819HP:0005978Type II diabetes mellitus1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000819HP:0100651Type I diabetes mellitus1MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional2
HP:0000819HP:0100651Type I diabetes mellitus1MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040283 - Occasional64
HP:0000819HP:0005978Type II diabetes mellitus1MOG CL E G H43407197OMIM:614250Narcolepsy 7.1
HP:0000819HP:0100651Type I diabetes mellitus1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0000819HP:0009800Maternal diabetes1MTHFR CL E G H45247436ORPHA:563609Isolated anencephalyHP:0040283 - Occasional183
HP:0000819HP:0009800Maternal diabetes1MTHFR CL E G H45247436ORPHA:563612Isolated exencephalyHP:0040283 - Occasional183
HP:0000819HP:0005978Type II diabetes mellitus1MTNR1B CL E G H45447464OMIM:125853Diabetes mellitus, noninsulin-dependent.4
HP:0000819HP:0009800Maternal diabetes1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0000819HP:0005978Type II diabetes mellitus1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000819HP:0005978Type II diabetes mellitus1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional5
HP:0000819HP:0005978Type II diabetes mellitus1NEUROD1 CL E G H47607762OMIM:125853Diabetes mellitus, noninsulin-dependent.32
HP:0000819HP:0004904Maturity-onset diabetes of the young1NEUROD1 CL E G H47607762OMIM:606394MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; MODY632
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040283 - Occasional32
HP:0000819HP:0100651Type I diabetes mellitus1NEUROG3 CL E G H5067413806ORPHA:83620Enteric anendocrinosisHP:0040282 - Frequent5
HP:0000819HP:0009800Maternal diabetes1NKX2-5 CL E G H14822488ORPHA:2248Hypoplastic left heart syndromeHP:0040283 - Occasional90
HP:0000819HP:0009800Maternal diabetes1NODAL CL E G H48387865ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional45
HP:0000819HP:0005978Type II diabetes mellitus1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000819HP:0005978Type II diabetes mellitus1NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional58
HP:0000819HP:0005978Type II diabetes mellitus1NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional30
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent2
HP:0000819HP:0005978Type II diabetes mellitus1OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional201
HP:0000819HP:0009800Maternal diabetes1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0000819HP:0005978Type II diabetes mellitus1PAX4 CL E G H50788618OMIM:125853Diabetes mellitus, noninsulin-dependent.55
HP:0000819HP:0004904Maturity-onset diabetes of the young1PAX4 CL E G H50788618OMIM:612225MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9; MODY955
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PAX4 CL E G H50788618ORPHA:552MODYHP:0040283 - Occasional55
HP:0000819HP:0005978Type II diabetes mellitus1PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0000819HP:0004904Maturity-onset diabetes of the young1PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiencyHP:0040284 - Very rare24
HP:0000819HP:0005978Type II diabetes mellitus1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0000819HP:0005978Type II diabetes mellitus1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0000819HP:0005978Type II diabetes mellitus1PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional116
HP:0000819HP:0005978Type II diabetes mellitus1PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional126
HP:0000819HP:0005978Type II diabetes mellitus1PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional18
HP:0000819HP:0005978Type II diabetes mellitus1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0000819HP:0005978Type II diabetes mellitus1PDX1 CL E G H36516107OMIM:125853Diabetes mellitus, noninsulin-dependent.30
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitus30
HP:0000819HP:0004904Maturity-onset diabetes of the young1PDX1 CL E G H36516107OMIM:606392Maturity-onset diabetes of the young, type 4.30
HP:0000819HP:0005978Type II diabetes mellitus1PDX1 CL E G H36516107OMIM:606392Maturity-onset diabetes of the young, type 4.HP:0011462 - Young adult onset30
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDX1 CL E G H36516107ORPHA:552MODYHP:0040283 - Occasional30
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital30
HP:0000819HP:0005978Type II diabetes mellitus1PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040283 - Occasional75
HP:0000819HP:0100651Type I diabetes mellitus1PI4KA CL E G H52978983ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040284 - Very rare11
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PIK3R1 CL E G H52958979OMIM:269880Short syndrome.43
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitus
HP:0000819HP:0001953Diabetic ketoacidosis1PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare
HP:0000819HP:0009800Maternal diabetes1PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional
HP:0000819HP:0004904Maturity-onset diabetes of the young1PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0000819HP:0005978Type II diabetes mellitus1PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalisHP:0040283 - Occasional5
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophy19
HP:0000819HP:0005978Type II diabetes mellitus1PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0000819HP:0005978Type II diabetes mellitus1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0000819HP:0005978Type II diabetes mellitus1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040284 - Very rare138
HP:0000819HP:0005978Type II diabetes mellitus1POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional180
HP:0000819HP:0005978Type II diabetes mellitus1PPARG CL E G H54689236OMIM:125853Diabetes mellitus, noninsulin-dependent.42
HP:0000819HP:0005978Type II diabetes mellitus1PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0000819HP:0009800Maternal diabetes1PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 3.42
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040281 - Very frequent42
HP:0000819HP:0009800Maternal diabetes1PPARG CL E G H54689236ORPHA:79083PPARG-related familial partial lipodystrophyHP:0040283 - Occasional42
HP:0000819HP:0005978Type II diabetes mellitus1PPP1R3A CL E G H55069291OMIM:125853Diabetes mellitus, noninsulin-dependent.12
HP:0000819HP:0005978Type II diabetes mellitus1PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional39
HP:0000819HP:0005978Type II diabetes mellitus1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0000819HP:0005978Type II diabetes mellitus1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0000819HP:0009800Maternal diabetes1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0000819HP:0005978Type II diabetes mellitus1PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional110
HP:0000819HP:0005978Type II diabetes mellitus1PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional28
HP:0000819HP:0005978Type II diabetes mellitus1PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional70
HP:0000819HP:0005978Type II diabetes mellitus1PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0000819HP:0005978Type II diabetes mellitus1PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional51
HP:0000819HP:0005978Type II diabetes mellitus1PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional94
HP:0000819HP:0005978Type II diabetes mellitus1PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional159
HP:0000819HP:0100651Type I diabetes mellitus1PSTPIP1 CL E G H90519580ORPHA:69126Pyogenic arthritis-pyoderma gangrenosum-acne syndromeHP:0040283 - Occasional96
HP:0000819HP:0009800Maternal diabetes1PTCH1 CL E G H57279585ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional665
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1PTF1A CL E G H25629723734ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome22
HP:0000819HP:0005978Type II diabetes mellitus1PTPN1 CL E G H57709642OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000819HP:0005978Type II diabetes mellitus1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000819HP:0005978Type II diabetes mellitus1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000819HP:0005978Type II diabetes mellitus1RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional108
HP:0000819HP:0005978Type II diabetes mellitus1RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional45
HP:0000819HP:0005978Type II diabetes mellitus1REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional5
HP:0000819HP:0005978Type II diabetes mellitus1RETN CL E G H5672920389OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0000819HP:0005978Type II diabetes mellitus1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional28
HP:0000819HP:0005978Type II diabetes mellitus1RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional107
HP:0000819HP:0005978Type II diabetes mellitus1RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional47
HP:0000819HP:0005978Type II diabetes mellitus1ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional38
HP:0000819HP:0005978Type II diabetes mellitus1RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional111
HP:0000819HP:0005978Type II diabetes mellitus1RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional284
HP:0000819HP:0005978Type II diabetes mellitus1RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional45
HP:0000819HP:0005978Type II diabetes mellitus1RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional14
HP:0000819HP:0005978Type II diabetes mellitus1RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional129
HP:0000819HP:0005978Type II diabetes mellitus1RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional200
HP:0000819HP:0004904Maturity-onset diabetes of the young1RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000819HP:0004904Maturity-onset diabetes of the young1RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional32
HP:0000819HP:0005978Type II diabetes mellitus1SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional48
HP:0000819HP:0100651Type I diabetes mellitus1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0000819HP:0009800Maternal diabetes1SHH CL E G H646910848ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional67
HP:0000819HP:0005978Type II diabetes mellitus1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0000819HP:0005978Type II diabetes mellitus1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000819HP:0009800Maternal diabetes1SIX3 CL E G H649610889ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0000819HP:0009800Maternal diabetes1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0000819HP:0005978Type II diabetes mellitus1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0000819HP:0100651Type I diabetes mellitus1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0000819HP:0001953Diabetic ketoacidosis1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0000819HP:0100651Type I diabetes mellitus1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000819HP:0005978Type II diabetes mellitus1SLC2A2 CL E G H651411006OMIM:125853Diabetes mellitus, noninsulin-dependent.71
HP:0000819HP:0005978Type II diabetes mellitus1SLC30A8 CL E G H16902620303OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0000819HP:0100651Type I diabetes mellitus1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000819HP:0005978Type II diabetes mellitus1SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional4
HP:0000819HP:0005978Type II diabetes mellitus1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000819HP:0005978Type II diabetes mellitus1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000819HP:0005978Type II diabetes mellitus1SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional83
HP:0000819HP:0009800Maternal diabetes1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0000819HP:0009800Maternal diabetes1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0000819HP:0005978Type II diabetes mellitus1SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional48
HP:0000819HP:0100651Type I diabetes mellitus1SPI1 CL E G H668811241OMIM:619707AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10
HP:0000819HP:0005978Type II diabetes mellitus1SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis34
HP:0000819HP:0009800Maternal diabetes1SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0000819HP:0005978Type II diabetes mellitus1SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0000819HP:0100651Type I diabetes mellitus1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0000819HP:0100651Type I diabetes mellitus1STAT3 CL E G H677411364OMIM:615952AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1110
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitus110
HP:0000819HP:0100651Type I diabetes mellitus1STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0000819HP:0005978Type II diabetes mellitus1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0000819HP:0100651Type I diabetes mellitus1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0000819HP:0005978Type II diabetes mellitus1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0009800Maternal diabetes1SUFU CL E G H5168416466ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional124
HP:0000819HP:0005978Type II diabetes mellitus1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0000819HP:0005978Type II diabetes mellitus1TCF7L2 CL E G H693411641OMIM:125853Diabetes mellitus, noninsulin-dependent.4
HP:0000819HP:0009800Maternal diabetes1TDGF1 CL E G H699711701ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional1
HP:0000819HP:0009800Maternal diabetes1TGIF1 CL E G H705011776ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional32
HP:0000819HP:0005978Type II diabetes mellitus1THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0000819HP:0100651Type I diabetes mellitus1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0000819HP:0100651Type I diabetes mellitus1TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0000819HP:0005978Type II diabetes mellitus1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0000819HP:0005978Type II diabetes mellitus1TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional61
HP:0000819HP:0005978Type II diabetes mellitus1TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0000819HP:0100651Type I diabetes mellitus1TRNE CL E G H45567479ORPHA:2596Myopathy and diabetes mellitusHP:0040281 - Very frequent
HP:0000819HP:0100651Type I diabetes mellitus1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0000819HP:0005978Type II diabetes mellitus1TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0000819HP:0100651Type I diabetes mellitus1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0000819HP:0100651Type I diabetes mellitus1TTC7A CL E G H5721719750ORPHA:436252Combined immunodeficiency-enteropathy spectrumHP:0040284 - Very rare26
HP:0000819HP:0005978Type II diabetes mellitus1TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional41
HP:0000819HP:0005978Type II diabetes mellitus1TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0000819HP:0005978Type II diabetes mellitus1TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional66
HP:0000819HP:0005978Type II diabetes mellitus1USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional777
HP:0000819HP:0009800Maternal diabetes1VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040281 - Very frequent111
HP:0000819HP:0009800Maternal diabetes1VANGL2 CL E G H5721615511ORPHA:563609Isolated anencephalyHP:0040283 - Occasional2
HP:0000819HP:0009800Maternal diabetes1VANGL2 CL E G H5721615511ORPHA:563612Isolated exencephalyHP:0040283 - Occasional2
HP:0000819HP:0005978Type II diabetes mellitus1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000819HP:0005978Type II diabetes mellitus1WFS1 CL E G H746612762OMIM:125853Diabetes mellitus, noninsulin-dependent.389
HP:0000819HP:0005978Type II diabetes mellitus1WFS1 CL E G H746612762OMIM:614296Wolfram-Like syndrome, autosomal dominant389
HP:0000819HP:0005978Type II diabetes mellitus1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0000819HP:0005978Type II diabetes mellitus1XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent9
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ZFP57 CL E G H34617118791OMIM:601410Diabetes mellitus, transient neonatal, 130
HP:0000819HP:0001953Diabetic ketoacidosis1ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040284 - Very rare30
HP:0000819HP:0004904Maturity-onset diabetes of the young1ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0000819HP:0009800Maternal diabetes1ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040283 - Occasional30
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitus30
HP:0000819HP:0009800Maternal diabetes1ZIC2 CL E G H754612873ORPHA:280200Microform holoprosencephalyHP:0040283 - Occasional34
HP:0000819HP:0000831Insulin-resistant diabetes mellitus1ZMPSTE24 CL E G H1026912877OMIM:608612Mandibuloacral dysplasia with type B lipodystrophy.83
HP:0000819HP:0005978Type II diabetes mellitus1ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional14
HP:0000819HP:0005978Type II diabetes mellitus1ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional27
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ABCC8 CL E G H683359OMIM:610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2245
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent245
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ABCC8 CL E G H683359ORPHA:552MODY245
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitus245
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2AGPAT2 CL E G H10555325OMIM:608594Lipodystrophy, congenital generalized, type 1.85
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2APPL1 CL E G H2606024035ORPHA:552MODY2
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2BLK CL E G H6401057ORPHA:552MODY75
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2.105
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CEL CL E G H10561848ORPHA:552MODY25
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2CNOT1 CL E G H230197877ORPHA:556955Pancreatic agenesis-holoprosencephaly syndromeHP:0040282 - Frequent2
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040281 - Very frequent65
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GATA6 CL E G H26274174ORPHA:2255Pancreatic hypoplasia-diabetes-congenital heart disease syndromeHP:0040281 - Very frequent37
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent237
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2GCK CL E G H26454195ORPHA:552MODY237
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HNF1A CL E G H692711621ORPHA:552MODY161
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HNF4A CL E G H31725024ORPHA:552MODY138
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitus
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent62
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2INS CL E G H36306081ORPHA:552MODY62
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KCNJ11 CL E G H37676257OMIM:610582Diabetes mellitus, transient neonatal, 3127
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent127
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KCNJ11 CL E G H37676257ORPHA:552MODY127
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitus127
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2KLF11 CL E G H846211811ORPHA:552MODY78
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2NEUROD1 CL E G H47607762ORPHA:552MODY32
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PAX4 CL E G H50788618ORPHA:552MODY55
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent30
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDX1 CL E G H36516107ORPHA:552MODY30
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PDX1 CL E G H36516107OMIM:260370Pancreatic agenesis, congenital.30
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitus
HP:0000819HP:0000877Insulin-resistant diabetes mellitus at puberty2PLIN1 CL E G H53469076ORPHA:280356PLIN1-related familial partial lipodystrophyHP:0040280 - Obligate19
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2PTF1A CL E G H25629723734ORPHA:65288Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndromeHP:0040281 - Very frequent22
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis.34
HP:0000819HP:0008205Insulin-dependent but ketosis-resistant diabetes2SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2STAT3 CL E G H677411364ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040281 - Very frequent110
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ZFP57 CL E G H34617118791OMIM:601410Diabetes mellitus, transient neonatal, 130
HP:0000819HP:0000857Neonatal insulin-dependent diabetes mellitus2ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitus30
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ABCC8 CL E G H683359OMIM:610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2245
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ABCC8 CL E G H683359ORPHA:552MODYHP:0040283 - Occasional245
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ABCC8 CL E G H683359ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0000819HP:0008255Transient neonatal diabetes mellitus3APPL1 CL E G H2606024035ORPHA:552MODYHP:0040283 - Occasional2
HP:0000819HP:0008255Transient neonatal diabetes mellitus3BLK CL E G H6401057ORPHA:552MODYHP:0040283 - Occasional75
HP:0000819HP:0008255Transient neonatal diabetes mellitus3CEL CL E G H10561848ORPHA:552MODYHP:0040283 - Occasional25
HP:0000819HP:0008255Transient neonatal diabetes mellitus3GCK CL E G H26454195ORPHA:552MODYHP:0040283 - Occasional237
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HNF1A CL E G H692711621ORPHA:552MODYHP:0040283 - Occasional161
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HNF4A CL E G H31725024ORPHA:552MODYHP:0040283 - Occasional138
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HYMAI CL E G H570615326OMIM:601410Diabetes mellitus, transient neonatal, 1.
HP:0000819HP:0008255Transient neonatal diabetes mellitus3HYMAI CL E G H570615326ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0000819HP:0008255Transient neonatal diabetes mellitus3INS CL E G H36306081ORPHA:552MODYHP:0040283 - Occasional62
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KCNJ11 CL E G H37676257OMIM:610582Diabetes mellitus, transient neonatal, 3.127
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KCNJ11 CL E G H37676257ORPHA:552MODYHP:0040283 - Occasional127
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KCNJ11 CL E G H37676257ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0000819HP:0008255Transient neonatal diabetes mellitus3KLF11 CL E G H846211811ORPHA:552MODYHP:0040283 - Occasional78
HP:0000819HP:0008255Transient neonatal diabetes mellitus3NEUROD1 CL E G H47607762ORPHA:552MODYHP:0040283 - Occasional32
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PAX4 CL E G H50788618ORPHA:552MODYHP:0040283 - Occasional55
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PDX1 CL E G H36516107ORPHA:552MODYHP:0040283 - Occasional30
HP:0000819HP:0008255Transient neonatal diabetes mellitus3PLAGL1 CL E G H53259046ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ZFP57 CL E G H34617118791OMIM:601410Diabetes mellitus, transient neonatal, 1.30
HP:0000819HP:0008255Transient neonatal diabetes mellitus3ZFP57 CL E G H34617118791ORPHA:99886Transient neonatal diabetes mellitusHP:0040282 - Frequent30


Genes (453) :ABCA4 ABCB4 ABCC8 ADA2 ADAR AEBP1 AGBL5 AGPAT2 AHI1 AHR AIP AIRE AKT2 ALMS1 AMACR APOA5 APOE APPL1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARNT2 ATM ATP6 ATRX BAZ1B BBS1 BBS2 BCL7B BEST1 BLK BLM BMP2 BMP6 BRAF BRCA1 BRCA2 BSCL2 BUD23 CA4 CARS1 CASR CAT CAV1 CAVIN1 CCDC28B CDH23 CDHR1 CDKN2A CDON CEL CELA2A CEP19 CERKL CFAP418 CFTR CIDEC CISD2 CLCNKB CLIP2 CLRN1 CNBP CNGA1 CNGB1 CNOT1 COL2A1 CORIN COX1 COX2 COX3 CP CPA1 CPE CRB1 CRX CTC1 CTNNB1 CTNS CTRC CYP19A1 CYTB DCAF17 DHDDS DHX38 DISP1 DKC1 DLK1 DLL1 DMXL2 DNAJC21 DNAJC3 DNAJC30 DNASE2 DNM1L DUT EDA EDA2R EFL1 EIF2AK3 EIF2S3 EIF4H ELMO2 ELN ENPP1 EYS FAM161A FBN1 FCGR3B FGF8 FGFR1 FKBP6 FLT1 FMR1 FOS FOXC2 FOXH1 FOXP1 FOXP3 FOXRED1 FSCN2 FUZ FXN GAS1 GATA3 GATA6 GCGR GCK GJA1 GJB3 GJB4 GLI2 GLIS3 GLRX5 GPD2 GPR101 GPR35 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B HAMP HBB HERC2 HESX1 HFE HGSNAT HJV HLA-DQA1 HLA-DQB1 HLA-DRB1 HMGA1 HMGA2 HNF1A HNF1B HNF4A HYMAI IARS1 IDH3A IDH3B IER3IP1 IFIH1 IFT140 IFT172 IFT88 IGF1R IGF2BP2 IGHG2 IGKC IL18BP IL2RA IL6 IMPDH1 IMPG1 IMPG2 INS INSR IPW IRS1 IRS2 ITCH ITPR3 KCNJ11 KCTD1 KDSR KIAA1549 KIZ KLF11 KLHL7 KRAS LEMD3 LEP LEPR LHX1 LIG4 LIMK1 LIPC LIPE LMF1 LMNA LMNB2 LRAT LRBA LRP6 LSM11 MAFA MAGEL2 MAK MAPK8IP1 MC4R MEG3 MEN1 MERTK METTL27 MIA3 MKKS MKRN3 MKRN3-AS1 MLXIPL MMP14 MMP2 MOG MST1 MTHFR MTNR1B NAA10 NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDN NDP NDUFA1 NDUFA11 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK2 NEUROD1 NEUROG3 NHP2 NKX2-5 NODAL NOP10 NOTCH3 NPAP1 NPM1 NR2E3 NR3C1 NRL NSMCE2 NUBPL OCA2 OFD1 OPA1 OTX2 PALB2 PALLD PARN PAX4 PCARE PCBD1 PCNT PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PDX1 PEX1 PEX10 PEX6 PI4KA PIK3R1 PLAGL1 PLCD1 PLIN1 PNPLA2 PNPLA6 POC1A POLA1 POLD1 POLG POLG2 POLR3A POMGNT1 PPARG PPP1R15B PPP1R3A PRCD PRKACA PRKAR1A PROK2 PROKR2 PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PRSS1 PRSS2 PSTPIP1 PTCH1 PTF1A PTPN1 PTPN22 PTRH2 PWAR1 PWRN1 RABL3 RAC1 RBP3 RDH12 REEP6 RETN RFC2 RGR RHO RLBP1 RNASEH2A RNASEH2B RNASEH2C RNU7-1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRM2B RTEL1 RTL1 SAG SAMHD1 SARS2 SBDS SCAPER SEMA4A SEMA4D SHH SIM1 SIN3A SIX3 SLC12A3 SLC19A2 SLC25A4 SLC29A3 SLC2A2 SLC30A8 SLC37A4 SLC40A1 SLC7A14 SMAD4 SMPD4 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOX2 SOX3 SPATA7 SPI1 SPINK1 SRP54 STAT1 STAT3 STOX1 STUB1 STX1A SUFU TBL2 TCF4 TCF7L2 TDGF1 TERC TERT TGIF1 THRB TIMMDC1 TINF2 TKT TLR8 TMEM126B TMEM270 TOM1 TOPORS TP53 TREX1 TRMT10A TRNC TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TTC7A TTC8 TTPA TUB TULP1 TWNK TYMS UBR1 USB1 USH2A USP48 USP8 VANGL1 VANGL2 VPS37D WFS1 WRAP53 WRN XRCC4 YIPF5 ZBTB20 ZFP57 ZFYVE26 ZIC2 ZMPSTE24 ZNF408 ZNF513 ZNRF3

Diseases (263) :ORPHA:791 ORPHA:69663 ORPHA:276575 OMIM:125853 OMIM:618857 OMIM:610374 ORPHA:99885 ORPHA:552 ORPHA:99886 OMIM:615688 ORPHA:51 ORPHA:536532 ORPHA:528 OMIM:608594 ORPHA:963 ORPHA:99725 OMIM:240300 ORPHA:79085 ORPHA:64 OMIM:203800 ORPHA:79095 OMIM:144650 ORPHA:412 OMIM:616511 ORPHA:481 OMIM:209900 ORPHA:3157 OMIM:208900 ORPHA:100 ORPHA:320360 ORPHA:96253 ORPHA:904 OMIM:615981 OMIM:613375 ORPHA:125 OMIM:210900 OMIM:235200 ORPHA:465508 ORPHA:54595 ORPHA:1333 OMIM:269700 OMIM:618891 ORPHA:676 ORPHA:926 OMIM:612526 OMIM:606721 ORPHA:1501 ORPHA:280200 OMIM:609812 OMIM:618620 OMIM:615703 OMIM:167800 ORPHA:435651 OMIM:615238 ORPHA:3463 OMIM:604928 ORPHA:358 OMIM:602668 OMIM:618500 ORPHA:556955 ORPHA:93346 ORPHA:275555 ORPHA:550 OMIM:540000 OMIM:604290 ORPHA:48818 OMIM:619326 ORPHA:1775 OMIM:219800 ORPHA:103918 ORPHA:91 ORPHA:3464 OMIM:241080 ORPHA:96184 ORPHA:254531 ORPHA:453533 ORPHA:811 OMIM:616192 ORPHA:445062 OMIM:619858 ORPHA:98673 OMIM:620044 ORPHA:181 OMIM:226980 ORPHA:1667 ORPHA:85282 ORPHA:3019 OMIM:194050 ORPHA:2833 ORPHA:464370 ORPHA:449291 ORPHA:33001 ORPHA:391372 ORPHA:37042 OMIM:304790 ORPHA:2609 ORPHA:3027 ORPHA:95 OMIM:229300 ORPHA:2237 OMIM:600001 ORPHA:2255 OMIM:619290 OMIM:606176 OMIM:602485 ORPHA:79299 OMIM:125851 ORPHA:317 ORPHA:2248 OMIM:610199 OMIM:616860 ORPHA:171 ORPHA:79230 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:176270 OMIM:212750 ORPHA:703 ORPHA:94063 OMIM:612520 OMIM:222100 OMIM:142330 ORPHA:324575 OMIM:600496 ORPHA:261265 ORPHA:93111 OMIM:137920 OMIM:616026 OMIM:125850 OMIM:601410 ORPHA:96191 ORPHA:541423 OMIM:614231 OMIM:270450 ORPHA:183675 OMIM:618549 OMIM:601942 OMIM:606367 OMIM:125852 OMIM:618858 OMIM:613370 ORPHA:2297 OMIM:262190 ORPHA:769 OMIM:613385 ORPHA:228426 ORPHA:276580 OMIM:618856 OMIM:610582 OMIM:616329 ORPHA:2036 OMIM:610508 ORPHA:66628 OMIM:614963 ORPHA:179494 ORPHA:99812 ORPHA:435660 OMIM:615980 OMIM:246650 ORPHA:79474 ORPHA:280365 ORPHA:2348 ORPHA:79084 OMIM:151660 OMIM:248370 OMIM:608709 OMIM:614700 OMIM:610947 OMIM:147630 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:71529 OMIM:619269 OMIM:605231 ORPHA:371428 OMIM:614250 ORPHA:563609 ORPHA:563612 OMIM:300855 ORPHA:649 OMIM:606394 ORPHA:83620 ORPHA:136 ORPHA:436182 OMIM:617253 ORPHA:1215 OMIM:612227 OMIM:612225 ORPHA:1578 OMIM:210720 ORPHA:189439 OMIM:614613 ORPHA:280651 OMIM:606392 OMIM:260370 ORPHA:3220 ORPHA:247815 ORPHA:436252 OMIM:269880 ORPHA:3163 ORPHA:2387 OMIM:613877 ORPHA:280356 OMIM:610717 ORPHA:98908 ORPHA:565612 ORPHA:2377 OMIM:614813 ORPHA:163976 OMIM:615381 ORPHA:254892 ORPHA:3455 OMIM:604367 ORPHA:79083 ORPHA:391408 OMIM:615830 OMIM:610628 ORPHA:69126 OMIM:609069 ORPHA:65288 ORPHA:456312 OMIM:616263 ORPHA:500159 OMIM:613845 ORPHA:398079 OMIM:613406 ORPHA:49827 OMIM:249270 ORPHA:168569 OMIM:602782 ORPHA:2088 OMIM:619525 OMIM:606069 OMIM:618622 OMIM:619707 OMIM:608189 ORPHA:391487 OMIM:614162 OMIM:615952 ORPHA:412057 OMIM:274300 ORPHA:488618 OMIM:301078 OMIM:616033 ORPHA:225 ORPHA:2596 ORPHA:96 OMIM:609286 ORPHA:2315 OMIM:243800 OMIM:222300 ORPHA:411590 OMIM:614296 OMIM:277700 ORPHA:902 OMIM:616541 OMIM:619278 OMIM:259050 ORPHA:100996 OMIM:608612
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.