Human Phenotype Ontology 
Grandparent Node:
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Abnormal glucose homeostasis (HP:0011014)help
Grandparent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Diabetes mellitus (HP:0000819)help
..Starting node
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Type II diabetes mellitus (HP:0005978)help
Term ID: 5978
Name: Type II diabetes mellitus
Synonym: Diabetes mellitus type 2; Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Noninsulin-dependent diabetes mellitus; Type 2 diabetes; Type II diabetes
Definition: A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Comments:
Reference: HP:0005978
Genes and Diseases:
 
       Child Nodes:
........expandInsulin-dependent but ketosis-resistant diabetes (HP:0008205) help

 Sister Nodes: 
..expandDiabetic ketoacidosis (HP:0001953) help
..expandInsulin-resistant diabetes mellitus (HP:0000831) help
..expandMaternal diabetes (HP:0009800) help
..expandMaturity-onset diabetes of the young (HP:0004904) help
..expandType I diabetes mellitus (HP:0100651) 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:0005978HP:0005978Type II diabetes mellitus0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional826
HP:0005978HP:0005978Type II diabetes mellitus0ABCC8 CL E G H683359OMIM:125853Diabetes mellitus, noninsulin-dependent.245
HP:0005978HP:0005978Type II diabetes mellitus0ABCC8 CL E G H683359OMIM:610374DIABETES MELLITUS, TRANSIENT NEONATAL, 2245
HP:0005978HP:0005978Type II diabetes mellitus0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0005978HP:0005978Type II diabetes mellitus0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional175
HP:0005978HP:0005978Type II diabetes mellitus0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0005978HP:0005978Type II diabetes mellitus0AIP CL E G H9049358ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent95
HP:0005978HP:0005978Type II diabetes mellitus0AKT2 CL E G H208392OMIM:125853Diabetes mellitus, noninsulin-dependent.12
HP:0005978HP:0005978Type II diabetes mellitus0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0005978HP:0005978Type II diabetes mellitus0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 4HP:0040281 - Very frequent44
HP:0005978HP:0005978Type II diabetes mellitus0AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040283 - Occasional125
HP:0005978HP:0005978Type II diabetes mellitus0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional6
HP:0005978HP:0005978Type II diabetes mellitus0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0005978HP:0005978Type II diabetes mellitus0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional29
HP:0005978HP:0005978Type II diabetes mellitus0ATM CL E G H472795ORPHA:100Ataxia-telangiectasiaHP:0040283 - Occasional3267
HP:0005978HP:0005978Type II diabetes mellitus0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional114
HP:0005978HP:0005978Type II diabetes mellitus0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional97
HP:0005978HP:0005978Type II diabetes mellitus0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional182
HP:0005978HP:0005978Type II diabetes mellitus0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0005978HP:0005978Type II diabetes mellitus0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional276
HP:0005978HP:0005978Type II diabetes mellitus0BSCL2 CL E G H2658015832OMIM:269700Lipodystrophy, congenital generalized, type 2105
HP:0005978HP:0005978Type II diabetes mellitus0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional23
HP:0005978HP:0005978Type II diabetes mellitus0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0005978HP:0005978Type II diabetes mellitus0CAT CL E G H8471516ORPHA:926AcatalasemiaHP:0040283 - Occasional5
HP:0005978HP:0005978Type II diabetes mellitus0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional147
HP:0005978HP:0005978Type II diabetes mellitus0CELA2A CL E G H6303624609OMIM:618620ABDOMINAL OBESITY-METABOLIC SYNDROME 4; AOMS41
HP:0005978HP:0005978Type II diabetes mellitus0CEP19 CL E G H8498428209OMIM:615703Morbid obesity and spermatogenic failure1
HP:0005978HP:0005978Type II diabetes mellitus0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional71
HP:0005978HP:0005978Type II diabetes mellitus0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0005978HP:0005978Type II diabetes mellitus0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional60
HP:0005978HP:0005978Type II diabetes mellitus0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0005978HP:0005978Type II diabetes mellitus0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional44
HP:0005978HP:0005978Type II diabetes mellitus0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional164
HP:0005978HP:0005978Type II diabetes mellitus0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0005978HP:0005978Type II diabetes mellitus0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional156
HP:0005978HP:0005978Type II diabetes mellitus0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional158
HP:0005978HP:0005978Type II diabetes mellitus0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional88
HP:0005978HP:0005978Type II diabetes mellitus0CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0005978HP:0005978Type II diabetes mellitus0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040282 - Frequent60
HP:0005978HP:0005978Type II diabetes mellitus0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional47
HP:0005978HP:0005978Type II diabetes mellitus0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0005978HP:0005978Type II diabetes mellitus0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0005978HP:0005978Type II diabetes mellitus0ENPP1 CL E G H51673356OMIM:125853Diabetes mellitus, noninsulin-dependent.151
HP:0005978HP:0005978Type II diabetes mellitus0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional209
HP:0005978HP:0005978Type II diabetes mellitus0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional56
HP:0005978HP:0005978Type II diabetes mellitus0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0005978HP:0005978Type II diabetes mellitus0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional26
HP:0005978HP:0005978Type II diabetes mellitus0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0005978HP:0005978Type II diabetes mellitus0GCK CL E G H26454195OMIM:125853Diabetes mellitus, noninsulin-dependent.237
HP:0005978HP:0005978Type II diabetes mellitus0GCK CL E G H26454195ORPHA:79299Hyperinsulinism due to glucokinase deficiencyHP:0040283 - Occasional237
HP:0005978HP:0005978Type II diabetes mellitus0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory17
HP:0005978HP:0005978Type II diabetes mellitus0GPD2 CL E G H28204456OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0005978HP:0005978Type II diabetes mellitus0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional36
HP:0005978HP:0005978Type II diabetes mellitus0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0005978HP:0005978Type II diabetes mellitus0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional86
HP:0005978HP:0005978Type II diabetes mellitus0HMGA1 CL E G H31595010OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0005978HP:0005978Type II diabetes mellitus0HNF1A CL E G H692711621OMIM:125853Diabetes mellitus, noninsulin-dependent.161
HP:0005978HP:0005978Type II diabetes mellitus0HNF1A CL E G H692711621OMIM:600496Maturity-onset diabetes of the young, type III.161
HP:0005978HP:0005978Type II diabetes mellitus0HNF1B CL E G H692811630OMIM:125853Diabetes mellitus, noninsulin-dependent.90
HP:0005978HP:0005978Type II diabetes mellitus0HNF4A CL E G H31725024OMIM:125853Diabetes mellitus, noninsulin-dependent.138
HP:0005978HP:0005978Type II diabetes mellitus0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional30
HP:0005978HP:0005978Type II diabetes mellitus0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional148
HP:0005978HP:0005978Type II diabetes mellitus0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional48
HP:0005978HP:0005978Type II diabetes mellitus0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0005978HP:0005978Type II diabetes mellitus0IGF2BP2 CL E G H1064428867OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0005978HP:0005978Type II diabetes mellitus0IL6 CL E G H35696018OMIM:125853Diabetes mellitus, noninsulin-dependent.2
HP:0005978HP:0005978Type II diabetes mellitus0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional52
HP:0005978HP:0005978Type II diabetes mellitus0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional4
HP:0005978HP:0005978Type II diabetes mellitus0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional120
HP:0005978HP:0005978Type II diabetes mellitus0INSR CL E G H36436091ORPHA:2297Insulin-resistance syndrome type AHP:0040281 - Very frequent229
HP:0005978HP:0005978Type II diabetes mellitus0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0005978HP:0005978Type II diabetes mellitus0IRS1 CL E G H36676125OMIM:125853Diabetes mellitus, noninsulin-dependent.5
HP:0005978HP:0005978Type II diabetes mellitus0IRS2 CL E G H86606126OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0005978HP:0005978Type II diabetes mellitus0KCNJ11 CL E G H37676257OMIM:125853Diabetes mellitus, noninsulin-dependent.127
HP:0005978HP:0005978Type II diabetes mellitus0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional3
HP:0005978HP:0005978Type II diabetes mellitus0KLF11 CL E G H846211811OMIM:610508MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7; MODY778
HP:0005978HP:0005978Type II diabetes mellitus0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional42
HP:0005978HP:0005978Type II diabetes mellitus0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0005978HP:0005978Type II diabetes mellitus0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0LIPC CL E G H39906619OMIM:125853Diabetes mellitus, noninsulin-dependent.35
HP:0005978HP:0005978Type II diabetes mellitus0LMF1 CL E G H6478814154OMIM:246650LIPASE DEFICIENCY, COMBINED3
HP:0005978HP:0005978Type II diabetes mellitus0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0005978HP:0005978Type II diabetes mellitus0LMNA CL E G H40006636OMIM:151660Lipodystrophy, familial partial, type 2645
HP:0005978HP:0005978Type II diabetes mellitus0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional62
HP:0005978HP:0005978Type II diabetes mellitus0LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 226
HP:0005978HP:0005978Type II diabetes mellitus0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0005978HP:0005978Type II diabetes mellitus0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0005978HP:0005978Type II diabetes mellitus0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0005978HP:0005978Type II diabetes mellitus0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional53
HP:0005978HP:0005978Type II diabetes mellitus0MAPK8IP1 CL E G H94796882OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0005978HP:0005978Type II diabetes mellitus0MC4R CL E G H41606932ORPHA:71529Obesity due to melanocortin 4 receptor deficiencyHP:0040283 - Occasional54
HP:0005978HP:0005978Type II diabetes mellitus0MEN1 CL E G H42217010ORPHA:99725Pituitary gigantismHP:0040281 - Very frequent462
HP:0005978HP:0005978Type II diabetes mellitus0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional75
HP:0005978HP:0005978Type II diabetes mellitus0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0005978HP:0005978Type II diabetes mellitus0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0005978HP:0005978Type II diabetes mellitus0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0MOG CL E G H43407197OMIM:614250Narcolepsy 7.1
HP:0005978HP:0005978Type II diabetes mellitus0MTNR1B CL E G H45447464OMIM:125853Diabetes mellitus, noninsulin-dependent.4
HP:0005978HP:0005978Type II diabetes mellitus0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0005978HP:0005978Type II diabetes mellitus0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional5
HP:0005978HP:0005978Type II diabetes mellitus0NEUROD1 CL E G H47607762OMIM:125853Diabetes mellitus, noninsulin-dependent.32
HP:0005978HP:0005978Type II diabetes mellitus0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0005978HP:0005978Type II diabetes mellitus0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional58
HP:0005978HP:0005978Type II diabetes mellitus0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional30
HP:0005978HP:0005978Type II diabetes mellitus0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional201
HP:0005978HP:0005978Type II diabetes mellitus0PAX4 CL E G H50788618OMIM:125853Diabetes mellitus, noninsulin-dependent.55
HP:0005978HP:0005978Type II diabetes mellitus0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0005978HP:0005978Type II diabetes mellitus0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0005978HP:0005978Type II diabetes mellitus0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional116
HP:0005978HP:0005978Type II diabetes mellitus0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional126
HP:0005978HP:0005978Type II diabetes mellitus0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional18
HP:0005978HP:0005978Type II diabetes mellitus0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0005978HP:0005978Type II diabetes mellitus0PDX1 CL E G H36516107OMIM:125853Diabetes mellitus, noninsulin-dependent.30
HP:0005978HP:0005978Type II diabetes mellitus0PDX1 CL E G H36516107OMIM:606392Maturity-onset diabetes of the young, type 4.HP:0011462 - Young adult onset30
HP:0005978HP:0005978Type II diabetes mellitus0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040283 - Occasional75
HP:0005978HP:0005978Type II diabetes mellitus0PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalisHP:0040283 - Occasional5
HP:0005978HP:0005978Type II diabetes mellitus0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040283 - Occasional103
HP:0005978HP:0005978Type II diabetes mellitus0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0005978HP:0005978Type II diabetes mellitus0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040284 - Very rare138
HP:0005978HP:0005978Type II diabetes mellitus0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional180
HP:0005978HP:0005978Type II diabetes mellitus0PPARG CL E G H54689236OMIM:125853Diabetes mellitus, noninsulin-dependent.42
HP:0005978HP:0005978Type II diabetes mellitus0PPARG CL E G H54689236OMIM:604367Lipodystrophy, familial partial, type 342
HP:0005978HP:0005978Type II diabetes mellitus0PPP1R3A CL E G H55069291OMIM:125853Diabetes mellitus, noninsulin-dependent.12
HP:0005978HP:0005978Type II diabetes mellitus0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional39
HP:0005978HP:0005978Type II diabetes mellitus0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0005978HP:0005978Type II diabetes mellitus0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0005978HP:0005978Type II diabetes mellitus0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional110
HP:0005978HP:0005978Type II diabetes mellitus0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional28
HP:0005978HP:0005978Type II diabetes mellitus0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional70
HP:0005978HP:0005978Type II diabetes mellitus0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional2
HP:0005978HP:0005978Type II diabetes mellitus0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional51
HP:0005978HP:0005978Type II diabetes mellitus0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional94
HP:0005978HP:0005978Type II diabetes mellitus0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional159
HP:0005978HP:0005978Type II diabetes mellitus0PTPN1 CL E G H57709642OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0005978HP:0005978Type II diabetes mellitus0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0005978HP:0005978Type II diabetes mellitus0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0005978HP:0005978Type II diabetes mellitus0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional108
HP:0005978HP:0005978Type II diabetes mellitus0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional45
HP:0005978HP:0005978Type II diabetes mellitus0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional5
HP:0005978HP:0005978Type II diabetes mellitus0RETN CL E G H5672920389OMIM:125853Diabetes mellitus, noninsulin-dependent.1
HP:0005978HP:0005978Type II diabetes mellitus0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional28
HP:0005978HP:0005978Type II diabetes mellitus0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional107
HP:0005978HP:0005978Type II diabetes mellitus0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional47
HP:0005978HP:0005978Type II diabetes mellitus0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional38
HP:0005978HP:0005978Type II diabetes mellitus0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional111
HP:0005978HP:0005978Type II diabetes mellitus0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional284
HP:0005978HP:0005978Type II diabetes mellitus0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional45
HP:0005978HP:0005978Type II diabetes mellitus0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional14
HP:0005978HP:0005978Type II diabetes mellitus0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional129
HP:0005978HP:0005978Type II diabetes mellitus0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional200
HP:0005978HP:0005978Type II diabetes mellitus0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional32
HP:0005978HP:0005978Type II diabetes mellitus0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional48
HP:0005978HP:0005978Type II diabetes mellitus0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0005978HP:0005978Type II diabetes mellitus0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0005978HP:0005978Type II diabetes mellitus0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0005978HP:0005978Type II diabetes mellitus0SLC2A2 CL E G H651411006OMIM:125853Diabetes mellitus, noninsulin-dependent.71
HP:0005978HP:0005978Type II diabetes mellitus0SLC30A8 CL E G H16902620303OMIM:125853Diabetes mellitus, noninsulin-dependent.3
HP:0005978HP:0005978Type II diabetes mellitus0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional4
HP:0005978HP:0005978Type II diabetes mellitus0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0005978HP:0005978Type II diabetes mellitus0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0005978HP:0005978Type II diabetes mellitus0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional83
HP:0005978HP:0005978Type II diabetes mellitus0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional48
HP:0005978HP:0005978Type II diabetes mellitus0SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis34
HP:0005978HP:0005978Type II diabetes mellitus0SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34
HP:0005978HP:0005978Type II diabetes mellitus0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0005978HP:0005978Type II diabetes mellitus0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TCF7L2 CL E G H693411641OMIM:125853Diabetes mellitus, noninsulin-dependent.4
HP:0005978HP:0005978Type II diabetes mellitus0THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0005978HP:0005978Type II diabetes mellitus0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional61
HP:0005978HP:0005978Type II diabetes mellitus0TRNE CL E G H45567479ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0005978HP:0005978Type II diabetes mellitus0TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TRNK CL E G H45667489ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0005978HP:0005978Type II diabetes mellitus0TRNL1 CL E G H45677490ORPHA:225Maternally-inherited diabetes and deafnessHP:0040281 - Very frequent
HP:0005978HP:0005978Type II diabetes mellitus0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional41
HP:0005978HP:0005978Type II diabetes mellitus0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional1
HP:0005978HP:0005978Type II diabetes mellitus0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional66
HP:0005978HP:0005978Type II diabetes mellitus0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional777
HP:0005978HP:0005978Type II diabetes mellitus0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0005978HP:0005978Type II diabetes mellitus0WFS1 CL E G H746612762OMIM:125853Diabetes mellitus, noninsulin-dependent.389
HP:0005978HP:0005978Type II diabetes mellitus0WFS1 CL E G H746612762OMIM:614296Wolfram-Like syndrome, autosomal dominant389
HP:0005978HP:0005978Type II diabetes mellitus0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0005978HP:0005978Type II diabetes mellitus0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0005978HP:0005978Type II diabetes mellitus0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional14
HP:0005978HP:0005978Type II diabetes mellitus0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040283 - Occasional27
HP:0005978HP:0008205Insulin-dependent but ketosis-resistant diabetes1CTRC CL E G H113302523ORPHA:103918Tropical pancreatitis39
HP:0005978HP:0008205Insulin-dependent but ketosis-resistant diabetes1SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis.34
HP:0005978HP:0008205Insulin-dependent but ketosis-resistant diabetes1SPINK1 CL E G H669011244ORPHA:103918Tropical pancreatitis34


Genes (208) :ABCA4 ABCC8 AGBL5 AHI1 AHR AIP AKT2 ALMS1 AMACR AR ARHGEF18 ARL2BP ARL3 ARL6 ATM BAZ1B BBS1 BBS2 BCL7B BEST1 BLM BRAF BSCL2 BUD23 CA4 CARS1 CAT CDHR1 CELA2A CEP19 CERKL CFAP418 CLCNKB CLIP2 CLRN1 CNBP CNGA1 CNGB1 COX1 COX2 COX3 CPE CRB1 CRX CTNNB1 CTRC CYP19A1 DHDDS DHX38 DMXL2 DNAJC30 EIF4H ELN ENPP1 EYS FAM161A FBN1 FKBP6 FSCN2 GCGR GCK GLRX5 GPD2 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B HERC2 HGSNAT HMGA1 HNF1A HNF1B HNF4A IDH3A IDH3B IFT140 IFT172 IFT88 IGF2BP2 IL6 IMPDH1 IMPG1 IMPG2 INSR IPW IRS1 IRS2 KCNJ11 KIAA1549 KIZ KLF11 KLHL7 LIG4 LIMK1 LIPC LMF1 LMNA LRAT LRP6 MAFA MAGEL2 MAK MAPK8IP1 MC4R MEN1 MERTK METTL27 MKRN3 MKRN3-AS1 MLXIPL MOG MTNR1B NCF1 ND1 ND4 ND5 ND6 NEK2 NEUROD1 NPAP1 NR2E3 NRL OFD1 PAX4 PCARE PCNT PDE11A PDE6A PDE6B PDE6G PDE8B PDX1 PEX10 PLCD1 PNPLA6 POLA1 POLR3A POMGNT1 PPARG PPP1R3A PRCD PRKACA PRKAR1A PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PTPN1 PWAR1 PWRN1 RBP3 RDH12 REEP6 RETN RFC2 RGR RHO RLBP1 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR SAG SCAPER SEMA4A SIM1 SIN3A SLC12A3 SLC2A2 SLC30A8 SLC7A14 SNORD115-1 SNORD116-1 SNRNP200 SPATA7 SPINK1 STUB1 STX1A TBL2 TCF7L2 THRB TMEM270 TOPORS TRNE TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNW TTC8 TUB TULP1 USH2A VPS37D WFS1 WRN XRCC4 ZNF408 ZNF513

Diseases (57) :ORPHA:791 OMIM:125853 OMIM:610374 ORPHA:99725 ORPHA:64 ORPHA:79095 ORPHA:481 ORPHA:100 ORPHA:904 OMIM:210900 ORPHA:54595 OMIM:269700 OMIM:618891 ORPHA:926 OMIM:618620 OMIM:615703 ORPHA:358 OMIM:602668 ORPHA:550 OMIM:619326 ORPHA:103918 ORPHA:91 ORPHA:453533 ORPHA:2833 OMIM:619290 ORPHA:79299 OMIM:616860 OMIM:176270 OMIM:600496 ORPHA:2297 OMIM:610508 ORPHA:99812 OMIM:246650 ORPHA:79474 OMIM:151660 OMIM:610947 OMIM:147630 ORPHA:398069 ORPHA:71529 OMIM:614250 OMIM:210720 ORPHA:189439 OMIM:606392 ORPHA:247815 ORPHA:2387 ORPHA:2377 ORPHA:163976 ORPHA:3455 OMIM:604367 ORPHA:398079 OMIM:613406 OMIM:608189 ORPHA:412057 OMIM:274300 ORPHA:225 OMIM:614296 ORPHA:902
 

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