Human Phenotype Ontology 
Grandparent Node:
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Constitutional symptom (HP:0025142)help
Parent Node:
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Abdominal symptom (HP:0011458)help
Parent Node:
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Pain (HP:0012531)help
..Starting node
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Abdominal pain (HP:0002027)help
Term ID: 2027
Name: Abdominal pain
Synonym: Abdominal discomfort; Abdominal pain; Gastro pain; Gastrointestinal pain; Pain in stomach; Stomach pain; Upset stomach
Definition: An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Comments:
Reference: HP:0002027
Genes and Diseases:
 
       Child Nodes:
........expandEpisodic abdominal pain (HP:0002574) help
........expandAbdominal colic (HP:0011848) help

 Sister Nodes: 
..expandAllodynia (HP:0012533) help
..expandAnal pain (HP:0500005) help
..expandAnkle pain (HP:0030840) help
..expandArthralgia (HP:0002829) help
..expandBack pain (HP:0003418) help
..expandBone pain (HP:0002653) help
..expandChest pain (HP:0100749) help
..expandChronic pain (HP:0012532) help
..expandCostochondral pain (HP:0006649) help
..expandEar pain (HP:0030766) help
..expandElbow pain (HP:0030835) help
..expandEpigastric pain (HP:0410019) help
..expandFinger pain (HP:0030837) help
..expandFlank pain (HP:0030157) help
..expandFoot pain (HP:0025238) help
..expandGroin pain (HP:0031520) help
..expandHip pain (HP:0030838) help
..expandJaw pain (HP:0040264) help
..expandKnee pain (HP:0030839) help
..expandLimb pain (HP:0009763) help
..expandMandibular pain (HP:0200025) help
..expandMyalgia (HP:0003326) help
..expandNeck pain (HP:0030833) help
..expandOcular pain (HP:0200026) help
..expandScrotal pain (HP:0030155) help
..expandShoulder pain (HP:0030834) help
..expandToe pain (HP:0030841) help
..expandVulvodynia (HP:0030943) help
..expandWrist pain (HP:0030836) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002027HP:0002027Abdominal pain0ABCA1 CL E G H1931150ORPHA124035229600046
HP:0002027HP:0002027Abdominal pain0ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM14720113886605459
HP:0002027HP:0002027Abdominal pain0ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM15129313887605460
HP:0002027HP:0002027Abdominal pain0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002027HP:0002027Abdominal pain0ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1552161839607575
HP:0002027HP:0002027Abdominal pain0ALAD CL E G H210100924ORPHA112147395125270
HP:0002027HP:0002027Abdominal pain0ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0002027HP:0002027Abdominal pain0APC CL E G H324873Bethlem myopathyC1834674ORPHA119517734583611731
HP:0002027HP:0002027Abdominal pain0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0002027HP:0002027Abdominal pain0BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0002027HP:0002027Abdominal pain0BRCA1 CL E G H672168829ORPHA12824114981100113705
HP:0002027HP:0002027Abdominal pain0BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA12824114981100113705
HP:0002027HP:0002027Abdominal pain0BRCA2 CL E G H675654Ampola syndromeORPHA13025127061101600185
HP:0002027HP:0002027Abdominal pain0BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA13025127061101600185
HP:0002027HP:0002027Abdominal pain0C4A CL E G H720117ORPHA19271323120810
HP:0002027HP:0002027Abdominal pain0CASR CL E G H846676ORPHA14109551514601199
HP:0002027HP:0002027Abdominal pain0CASR CL E G H846428Autosomal dominant hypocalcemiaCN228164ORPHA14109551514601199
HP:0002027HP:0002027Abdominal pain0CCR1 CL E G H1230117ORPHA11191602601159
HP:0002027HP:0002027Abdominal pain0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0002027HP:0002027Abdominal pain0CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA12438331787600160
HP:0002027HP:0002027Abdominal pain0CEL CL E G H1056609812Maturity-onset diabetes of the young, type 8609812C1853297OMIM114811848114840
HP:0002027HP:0002027Abdominal pain0CFTR CL E G H1080676ORPHA1182822711884602421
HP:0002027HP:0002027Abdominal pain0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0002027HP:0002027Abdominal pain0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0002027HP:0002027Abdominal pain0CPA1 CL E G H1357676ORPHA148942296114850
HP:0002027HP:0002027Abdominal pain0CPOX CL E G H137179273ORPHA1731362321612732
HP:0002027HP:0002027Abdominal pain0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002027HP:0002027Abdominal pain0CTLA4 CL E G H1493900ORPHA1721142505123890
HP:0002027HP:0002027Abdominal pain0CTNNB1 CL E G H149933402ORPHA1541802514116806
HP:0002027HP:0002027Abdominal pain0CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA1541802514116806
HP:0002027HP:0002027Abdominal pain0CTRC CL E G H11330676ORPHA1481772523601405
HP:0002027HP:0002027Abdominal pain0DIS3L2 CL E G H129563654Ampola syndromeORPHA11488128648614184
HP:0002027HP:0002027Abdominal pain0DNASE1L3 CL E G H177636412ORPHA110312959602244
HP:0002027HP:0002027Abdominal pain0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA17473146600423
HP:0002027HP:0002027Abdominal pain0EDN3 CL E G H1908897ORPHA1211173178131242
HP:0002027HP:0002027Abdominal pain0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA1211173178131242
HP:0002027HP:0002027Abdominal pain0EDNRB CL E G H1910897ORPHA1701913180131244
HP:0002027HP:0002027Abdominal pain0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA1701913180131244
HP:0002027HP:0002027Abdominal pain0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0002027HP:0002027Abdominal pain0EPCAM CL E G H4072144ORPHA18129311529185535
HP:0002027HP:0002027Abdominal pain0EPOR CL E G H205790042ORPHA132843416133171
HP:0002027HP:0002027Abdominal pain0ERAP1 CL E G H51752117ORPHA1116718173606832
HP:0002027HP:0002027Abdominal pain0EWSR1 CL E G H213083469ORPHA18433508133450
HP:0002027HP:0002027Abdominal pain0F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0002027HP:0002027Abdominal pain0FAN1 CL E G H22909144ORPHA12127329170613534
HP:0002027HP:0002027Abdominal pain0FAS CL E G H355117ORPHA114216911920134637
HP:0002027HP:0002027Abdominal pain0FSHR CL E G H249264739ORPHA1411183969136435
HP:0002027HP:0002027Abdominal pain0FSHR CL E G H2492608115Ovarian hyperstimulation syndrome608115C0085083OMIM1411183969136435
HP:0002027HP:0002027Abdominal pain0GBA CL E G H262977259ORPHA14942064177606463
HP:0002027HP:0002027Abdominal pain0GCGR CL E G H2642438274ORPHA112334192138033
HP:0002027HP:0002027Abdominal pain0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA1111194232600837
HP:0002027HP:0002027Abdominal pain0GHSR CL E G H2693314811ORPHA1151074267601898
HP:0002027HP:0002027Abdominal pain0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0002027HP:0002027Abdominal pain0GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0002027HP:0002027Abdominal pain0GNA11 CL E G H2767428Autosomal dominant hypocalcemiaCN228164ORPHA111624379139313
HP:0002027HP:0002027Abdominal pain0GPC3 CL E G H2719654Ampola syndromeORPHA1985264451300037
HP:0002027HP:0002027Abdominal pain0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0002027HP:0002027Abdominal pain0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0002027HP:0002027Abdominal pain0H19 CL E G H283120654Ampola syndromeORPHA138494713103280
HP:0002027HP:0002027Abdominal pain0HBB CL E G H3043603903Hb SS disease603903C0002895OMIM187110094827141900
HP:0002027HP:0002027Abdominal pain0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0002027HP:0002027Abdominal pain0HLA-B CL E G H3106117ORPHA153174932142830
HP:0002027HP:0002027Abdominal pain0HLA-DPA1 CL E G H3113900ORPHA11154938142880
HP:0002027HP:0002027Abdominal pain0HLA-DPB1 CL E G H3115900ORPHA19154940142858
HP:0002027HP:0002027Abdominal pain0HMBS CL E G H314579276ORPHA14232104982609806
HP:0002027HP:0002027Abdominal pain0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0002027HP:0002027Abdominal pain0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM1552345163604982
HP:0002027HP:0002027Abdominal pain0IL10 CL E G H3586117ORPHA121355962124092
HP:0002027HP:0002027Abdominal pain0IL12A CL E G H3592117ORPHA12265969161560
HP:0002027HP:0002027Abdominal pain0IL12A-AS1 CL E G H101928376117ORPHA113490940
HP:0002027HP:0002027Abdominal pain0IL23R CL E G H149233117ORPHA193719100607562
HP:0002027HP:0002027Abdominal pain0JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1262286192147796
HP:0002027HP:0002027Abdominal pain0JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0002027HP:0002027Abdominal pain0KLRC4 CL E G H8302117ORPHA1366377602893
HP:0002027HP:0002027Abdominal pain0KRAS CL E G H3845144ORPHA1452746407190070
HP:0002027HP:0002027Abdominal pain0KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA1452746407190070
HP:0002027HP:0002027Abdominal pain0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0002027HP:0002027Abdominal pain0MCM6 CL E G H4175223100Nonpersistence of intestinal lactase223100C0268181OMIM12236949601806
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H4210342ORPHA11895616998608107
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H4210117ORPHA11895616998608107
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM11895616998608107
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM11895616998608107
HP:0002027HP:0002027Abdominal pain0MET CL E G H423333402ORPHA13912697029164860
HP:0002027HP:0002027Abdominal pain0MLH1 CL E G H4292144ORPHA1120331857127120436
HP:0002027HP:0002027Abdominal pain0MLH3 CL E G H27030144ORPHA1324877128604395
HP:0002027HP:0002027Abdominal pain0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0002027HP:0002027Abdominal pain0MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1571877217159530
HP:0002027HP:0002027Abdominal pain0MSH2 CL E G H4436144ORPHA1126440967325609309
HP:0002027HP:0002027Abdominal pain0MSH6 CL E G H2956144ORPHA160250967329600678
HP:0002027HP:0002027Abdominal pain0MT-CO1 CL E G H4512550ORPHA17419516030
HP:0002027HP:0002027Abdominal pain0MT-CO2 CL E G H4513550ORPHA17421516040
HP:0002027HP:0002027Abdominal pain0MT-CO3 CL E G H4514550ORPHA17422516050
HP:0002027HP:0002027Abdominal pain0MT-ND1 CL E G H4535550ORPHA17455516000
HP:0002027HP:0002027Abdominal pain0MT-ND4 CL E G H4538550ORPHA17459516003
HP:0002027HP:0002027Abdominal pain0MT-ND5 CL E G H4540550ORPHA17461516005
HP:0002027HP:0002027Abdominal pain0MT-ND6 CL E G H4541550ORPHA17462516006
HP:0002027HP:0002027Abdominal pain0MT-TF CL E G H4558550ORPHA17481590070
HP:0002027HP:0002027Abdominal pain0MT-TH CL E G H4564550ORPHA17487590040
HP:0002027HP:0002027Abdominal pain0MT-TL1 CL E G H4567550ORPHA17490590050
HP:0002027HP:0002027Abdominal pain0MT-TQ CL E G H4572550ORPHA17495590030
HP:0002027HP:0002027Abdominal pain0MT-TS1 CL E G H4574550ORPHA17497590080
HP:0002027HP:0002027Abdominal pain0MT-TS2 CL E G H4575550ORPHA17498590085
HP:0002027HP:0002027Abdominal pain0MT-TW CL E G H4578550ORPHA17501590095
HP:0002027HP:0002027Abdominal pain0MVK CL E G H4598343ORPHA11832777530251170
HP:0002027HP:0002027Abdominal pain0MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11832777530251170
HP:0002027HP:0002027Abdominal pain0NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM11243122938609648
HP:0002027HP:0002027Abdominal pain0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0002027HP:0002027Abdominal pain0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0002027HP:0002027Abdominal pain0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA13158007602018
HP:0002027HP:0002027Abdominal pain0OPLAH CL E G H268732600055-Oxoprolinase deficiency260005C0268525OMIM1281278149614243
HP:0002027HP:0002027Abdominal pain0PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1417350326144610355
HP:0002027HP:0002027Abdominal pain0PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA1439517068608092
HP:0002027HP:0002027Abdominal pain0PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM1127214938610272
HP:0002027HP:0002027Abdominal pain0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0002027HP:0002027Abdominal pain0PIK3CA CL E G H5290144ORPHA1573798975171834
HP:0002027HP:0002027Abdominal pain0PMS1 CL E G H5378144ORPHA136659121600258
HP:0002027HP:0002027Abdominal pain0PMS2 CL E G H5395144ORPHA136327589122600259
HP:0002027HP:0002027Abdominal pain0POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM130011969179174763
HP:0002027HP:0002027Abdominal pain0POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM130011969179174763
HP:0002027HP:0002027Abdominal pain0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002027HP:0002027Abdominal pain0POU6F2 CL E G H11281654Ampola syndromeORPHA145221694609062
HP:0002027HP:0002027Abdominal pain0PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM1185939280600923
HP:0002027HP:0002027Abdominal pain0PRSS1 CL E G H5644676ORPHA1672649475276000
HP:0002027HP:0002027Abdominal pain0PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM1672649475276000
HP:0002027HP:0002027Abdominal pain0PRSS2 CL E G H5645676ORPHA12299483601564
HP:0002027HP:0002027Abdominal pain0PRTN3 CL E G H5657900ORPHA1449495177020
HP:0002027HP:0002027Abdominal pain0PTPN22 CL E G H26191900ORPHA114289652600716
HP:0002027HP:0002027Abdominal pain0REST CL E G H5978654Ampola syndromeORPHA117909966600571
HP:0002027HP:0002027Abdominal pain0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA143214969967164761
HP:0002027HP:0002027Abdominal pain0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0002027HP:0002027Abdominal pain0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002027HP:0002027Abdominal pain0SAA1 CL E G H628885445ORPHA132410513104750
HP:0002027HP:0002027Abdominal pain0SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0002027HP:0002027Abdominal pain0SDHB CL E G H639097286ORPHA127966710681185470
HP:0002027HP:0002027Abdominal pain0SDHC CL E G H639197286ORPHA16241510682602413
HP:0002027HP:0002027Abdominal pain0SDHD CL E G H639297286ORPHA117436110683602690
HP:0002027HP:0002027Abdominal pain0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA144210725602645
HP:0002027HP:0002027Abdominal pain0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA1144810726609907
HP:0002027HP:0002027Abdominal pain0SERPING1 CL E G H710100050ORPHA15671881228606860
HP:0002027HP:0002027Abdominal pain0SERPING1 CL E G H710106100Hereditary angioedema type 1106100C2717906OMIM15671881228606860
HP:0002027HP:0002027Abdominal pain0SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM146620661611037
HP:0002027HP:0002027Abdominal pain0SLC40A1 CL E G H30061139491ORPHA16713410909604653
HP:0002027HP:0002027Abdominal pain0SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA114712576770600993
HP:0002027HP:0002027Abdominal pain0SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM114712576770600993
HP:0002027HP:0002027Abdominal pain0SOX10 CL E G H6663897ORPHA115119211190602229
HP:0002027HP:0002027Abdominal pain0SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0002027HP:0002027Abdominal pain0SPINK1 CL E G H6690676ORPHA15410011244167790
HP:0002027HP:0002027Abdominal pain0SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM15410011244167790
HP:0002027HP:0002027Abdominal pain0SPINK1 CL E G H6690608189Tropical calcific pancreatitis608189C1842402OMIM15410011244167790
HP:0002027HP:0002027Abdominal pain0STAT4 CL E G H6775117ORPHA165011365600558
HP:0002027HP:0002027Abdominal pain0STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1466164311389602216
HP:0002027HP:0002027Abdominal pain0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0002027HP:0002027Abdominal pain0TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA1126725941612839
HP:0002027HP:0002027Abdominal pain0TGFBR2 CL E G H7048144ORPHA114857211773190182
HP:0002027HP:0002027Abdominal pain0TLR4 CL E G H7099117ORPHA1184911850603030
HP:0002027HP:0002027Abdominal pain0TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0002027HP:0002027Abdominal pain0TNFRSF1A CL E G H7132142680TNF receptor-associated periodic fever syndrome (TRAPS)142680C1275126OMIM110927911916191190
HP:0002027HP:0002027Abdominal pain0TP53 CL E G H71571501ORPHA1541203511998191170
HP:0002027HP:0002027Abdominal pain0TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1541203511998191170
HP:0002027HP:0002027Abdominal pain0TREH CL E G H11181612119alpha, alpha-Trehalase deficiency612119C0268187OMIM123212266275360
HP:0002027HP:0002027Abdominal pain0TRIM28 CL E G H10155654Ampola syndromeORPHA131716384601742
HP:0002027HP:0002027Abdominal pain0TRIP13 CL E G H9319654Ampola syndromeORPHA1216212307604507
HP:0002027HP:0002027Abdominal pain0TSC1 CL E G H7248538ORPHA1404235112362605284
HP:0002027HP:0002027Abdominal pain0TSC2 CL E G H7249538ORPHA11269558112363191092
HP:0002027HP:0002027Abdominal pain0TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM1953813148131222
HP:0002027HP:0002027Abdominal pain0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002027HP:0002027Abdominal pain0UBAC2 CL E G H337867117ORPHA1175204860
HP:0002027HP:0002027Abdominal pain0WT1 CL E G H749083469ORPHA118463512796607102
HP:0002027HP:0002027Abdominal pain0WT1 CL E G H7490654Ampola syndromeORPHA118463512796607102
HP:0002027HP:0002027Abdominal pain1ABCA1 CL E G H1931150ORPHA124035229600046
HP:0002027HP:0002027Abdominal pain1ABCG5 CL E G H64240210250Sitosterolemia210250C0342907OMIM14720113886605459
HP:0002027HP:0002027Abdominal pain1ABCG8 CL E G H64241210250Sitosterolemia210250C0342907OMIM15129313887605460
HP:0002027HP:0002027Abdominal pain1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002027HP:0002027Abdominal pain1ADA2 CL E G H51816615688Polyarteritis nodosa, childhoood-onset615688C3887654OMIM1552161839607575
HP:0002027HP:0002027Abdominal pain1ALAD CL E G H210100924ORPHA112147395125270
HP:0002027HP:0002027Abdominal pain1ALDOB CL E G H229229600Hereditary fructosuria229600C0016751OMIM167210417612724
HP:0002027HP:0002027Abdominal pain1APC CL E G H324873Bethlem myopathyC1834674ORPHA119517734583611731
HP:0002027HP:0002027Abdominal pain1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA15187961605681
HP:0002027HP:0002027Abdominal pain1BMPR1A CL E G H657174900Juvenile polyposis syndrome174900C0345893OMIM114112071076601299
HP:0002027HP:0002027Abdominal pain1BRCA1 CL E G H672168829ORPHA12824114981100113705
HP:0002027HP:0002027Abdominal pain1BRCA1 CL E G H6721333Chromosome 19, ringCN036553ORPHA12824114981100113705
HP:0002027HP:0002027Abdominal pain1BRCA2 CL E G H675654Ampola syndromeORPHA13025127061101600185
HP:0002027HP:0002027Abdominal pain1BRCA2 CL E G H6751333Chromosome 19, ringCN036553ORPHA13025127061101600185
HP:0002027HP:0002027Abdominal pain1C4A CL E G H720117ORPHA19271323120810
HP:0002027HP:0002027Abdominal pain1CASR CL E G H846676ORPHA14109551514601199
HP:0002027HP:0002027Abdominal pain1CASR CL E G H846428Autosomal dominant hypocalcemiaCN228164ORPHA14109551514601199
HP:0002027HP:0002027Abdominal pain1CCR1 CL E G H1230117ORPHA11191602601159
HP:0002027HP:0002027Abdominal pain1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0002027HP:0002027Abdominal pain1CDKN2A CL E G H10291333Chromosome 19, ringCN036553ORPHA12438331787600160
HP:0002027HP:0002027Abdominal pain1CEL CL E G H1056609812Maturity-onset diabetes of the young, type 8609812C1853297OMIM114811848114840
HP:0002027HP:0002027Abdominal pain1CFTR CL E G H1080676ORPHA1182822711884602421
HP:0002027HP:0002027Abdominal pain1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0002027HP:0002027Abdominal pain1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA111742586603432
HP:0002027HP:0002027Abdominal pain1CPA1 CL E G H1357676ORPHA148942296114850
HP:0002027HP:0002027Abdominal pain1CPOX CL E G H137179273ORPHA1731362321612732
HP:0002027HP:0002027Abdominal pain1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002027HP:0002027Abdominal pain1CTLA4 CL E G H1493900ORPHA1721142505123890
HP:0002027HP:0002027Abdominal pain1CTNNB1 CL E G H149933402ORPHA1541802514116806
HP:0002027HP:0002027Abdominal pain1CTNNB1 CL E G H1499873Bethlem myopathyC1834674ORPHA1541802514116806
HP:0002027HP:0002027Abdominal pain1CTRC CL E G H11330676ORPHA1481772523601405
HP:0002027HP:0002027Abdominal pain1DIS3L2 CL E G H129563654Ampola syndromeORPHA11488128648614184
HP:0002027HP:0002027Abdominal pain1DNASE1L3 CL E G H177636412ORPHA110312959602244
HP:0002027HP:0002027Abdominal pain1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA17473146600423
HP:0002027HP:0002027Abdominal pain1EDN3 CL E G H1908897ORPHA1211173178131242
HP:0002027HP:0002027Abdominal pain1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA1211173178131242
HP:0002027HP:0002027Abdominal pain1EDNRB CL E G H1910897ORPHA1701913180131244
HP:0002027HP:0002027Abdominal pain1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA1701913180131244
HP:0002027HP:0002027Abdominal pain1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA11275233327130160
HP:0002027HP:0002027Abdominal pain1EPCAM CL E G H4072144ORPHA18129311529185535
HP:0002027HP:0002027Abdominal pain1EPOR CL E G H205790042ORPHA132843416133171
HP:0002027HP:0002027Abdominal pain1ERAP1 CL E G H51752117ORPHA1116718173606832
HP:0002027HP:0002027Abdominal pain1EWSR1 CL E G H213083469ORPHA18433508133450
HP:0002027HP:0002027Abdominal pain1F5 CL E G H2153131Myeloid sarcomaORPHA11693293542612309
HP:0002027HP:0002027Abdominal pain1FAN1 CL E G H22909144ORPHA12127329170613534
HP:0002027HP:0002027Abdominal pain1FAS CL E G H355117ORPHA114216911920134637
HP:0002027HP:0002027Abdominal pain1FSHR CL E G H249264739ORPHA1411183969136435
HP:0002027HP:0002027Abdominal pain1FSHR CL E G H2492608115Ovarian hyperstimulation syndrome608115C0085083OMIM1411183969136435
HP:0002027HP:0002027Abdominal pain1GBA CL E G H262977259ORPHA14942064177606463
HP:0002027HP:0002027Abdominal pain1GCGR CL E G H2642438274ORPHA112334192138033
HP:0002027HP:0002027Abdominal pain1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA1111194232600837
HP:0002027HP:0002027Abdominal pain1GHSR CL E G H2693314811ORPHA1151074267601898
HP:0002027HP:0002027Abdominal pain1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0002027HP:0002027Abdominal pain1GLA CL E G H2717324Slti Salem syndromeORPHA19667284296300644
HP:0002027HP:0002027Abdominal pain1GNA11 CL E G H2767428Autosomal dominant hypocalcemiaCN228164ORPHA111624379139313
HP:0002027HP:0002027Abdominal pain1GPC3 CL E G H2719654Ampola syndromeORPHA1985264451300037
HP:0002027HP:0002027Abdominal pain1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA111574659601679
HP:0002027HP:0002027Abdominal pain1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA162064661604318
HP:0002027HP:0002027Abdominal pain1H19 CL E G H283120654Ampola syndromeORPHA138494713103280
HP:0002027HP:0002027Abdominal pain1HBB CL E G H3043603903Hb SS disease603903C0002895OMIM187110094827141900
HP:0002027HP:0002027Abdominal pain1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM1611034886613609
HP:0002027HP:0002027Abdominal pain1HLA-B CL E G H3106117ORPHA153174932142830
HP:0002027HP:0002027Abdominal pain1HLA-DPA1 CL E G H3113900ORPHA11154938142880
HP:0002027HP:0002027Abdominal pain1HLA-DPB1 CL E G H3115900ORPHA19154940142858
HP:0002027HP:0002027Abdominal pain1HMBS CL E G H314579276ORPHA14232104982609806
HP:0002027HP:0002027Abdominal pain1HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0002027HP:0002027Abdominal pain1HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM1552345163604982
HP:0002027HP:0002027Abdominal pain1IL10 CL E G H3586117ORPHA121355962124092
HP:0002027HP:0002027Abdominal pain1IL12A CL E G H3592117ORPHA12265969161560
HP:0002027HP:0002027Abdominal pain1IL12A-AS1 CL E G H101928376117ORPHA113490940
HP:0002027HP:0002027Abdominal pain1IL23R CL E G H149233117ORPHA193719100607562
HP:0002027HP:0002027Abdominal pain1JAK2 CL E G H3717729Anti-factor 8 autoimmunizationORPHA1262286192147796
HP:0002027HP:0002027Abdominal pain1JAK2 CL E G H3717131Myeloid sarcomaORPHA1262286192147796
HP:0002027HP:0002027Abdominal pain1KLRC4 CL E G H8302117ORPHA1366377602893
HP:0002027HP:0002027Abdominal pain1KRAS CL E G H3845144ORPHA1452746407190070
HP:0002027HP:0002027Abdominal pain1KRAS CL E G H38451333Chromosome 19, ringCN036553ORPHA1452746407190070
HP:0002027HP:0002027Abdominal pain1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA171936613601329
HP:0002027HP:0002027Abdominal pain1MCM6 CL E G H4175223100Nonpersistence of intestinal lactase223100C0268181OMIM12236949601806
HP:0002027HP:0002027Abdominal pain1MEFV CL E G H4210342ORPHA11895616998608107
HP:0002027HP:0002027Abdominal pain1MEFV CL E G H4210117ORPHA11895616998608107
HP:0002027HP:0002027Abdominal pain1MEFV CL E G H4210249100Familial Mediterranean fever249100C0031069OMIM11895616998608107
HP:0002027HP:0002027Abdominal pain1MEFV CL E G H4210134610Familial mediterranean fever, autosomal dominant134610C1851347OMIM11895616998608107
HP:0002027HP:0002027Abdominal pain1MET CL E G H423333402ORPHA13912697029164860
HP:0002027HP:0002027Abdominal pain1MLH1 CL E G H4292144ORPHA1120331857127120436
HP:0002027HP:0002027Abdominal pain1MLH3 CL E G H27030144ORPHA1324877128604395
HP:0002027HP:0002027Abdominal pain1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0002027HP:0002027Abdominal pain1MPL CL E G H4352729Anti-factor 8 autoimmunizationORPHA1571877217159530
HP:0002027HP:0002027Abdominal pain1MSH2 CL E G H4436144ORPHA1126440967325609309
HP:0002027HP:0002027Abdominal pain1MSH6 CL E G H2956144ORPHA160250967329600678
HP:0002027HP:0002027Abdominal pain1MT-CO1 CL E G H4512550ORPHA17419516030
HP:0002027HP:0002027Abdominal pain1MT-CO2 CL E G H4513550ORPHA17421516040
HP:0002027HP:0002027Abdominal pain1MT-CO3 CL E G H4514550ORPHA17422516050
HP:0002027HP:0002027Abdominal pain1MT-ND1 CL E G H4535550ORPHA17455516000
HP:0002027HP:0002027Abdominal pain1MT-ND4 CL E G H4538550ORPHA17459516003
HP:0002027HP:0002027Abdominal pain1MT-ND5 CL E G H4540550ORPHA17461516005
HP:0002027HP:0002027Abdominal pain1MT-ND6 CL E G H4541550ORPHA17462516006
HP:0002027HP:0002027Abdominal pain1MT-TF CL E G H4558550ORPHA17481590070
HP:0002027HP:0002027Abdominal pain1MT-TH CL E G H4564550ORPHA17487590040
HP:0002027HP:0002027Abdominal pain1MT-TL1 CL E G H4567550ORPHA17490590050
HP:0002027HP:0002027Abdominal pain1MT-TQ CL E G H4572550ORPHA17495590030
HP:0002027HP:0002027Abdominal pain1MT-TS1 CL E G H4574550ORPHA17497590080
HP:0002027HP:0002027Abdominal pain1MT-TS2 CL E G H4575550ORPHA17498590085
HP:0002027HP:0002027Abdominal pain1MT-TW CL E G H4578550ORPHA17501590095
HP:0002027HP:0002027Abdominal pain1MVK CL E G H4598343ORPHA11832777530251170
HP:0002027HP:0002027Abdominal pain1MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11832777530251170
HP:0002027HP:0002027Abdominal pain1NLRP12 CL E G H91662611762Familial cold autoinflammatory syndrome 2611762C2673198OMIM11243122938609648
HP:0002027HP:0002027Abdominal pain1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0002027HP:0002027Abdominal pain1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0002027HP:0002027Abdominal pain1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA13158007602018
HP:0002027HP:0002027Abdominal pain1OPLAH CL E G H268732600055-Oxoprolinase deficiency260005C0268525OMIM1281278149614243
HP:0002027HP:0002027Abdominal pain1PALB2 CL E G H797281333Chromosome 19, ringCN036553ORPHA1417350326144610355
HP:0002027HP:0002027Abdominal pain1PALLD CL E G H230221333Chromosome 19, ringCN036553ORPHA1439517068608092
HP:0002027HP:0002027Abdominal pain1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM1127214938610272
HP:0002027HP:0002027Abdominal pain1PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM122328213610662
HP:0002027HP:0002027Abdominal pain1PIK3CA CL E G H5290144ORPHA1573798975171834
HP:0002027HP:0002027Abdominal pain1PMS1 CL E G H5378144ORPHA136659121600258
HP:0002027HP:0002027Abdominal pain1PMS2 CL E G H5395144ORPHA136327589122600259
HP:0002027HP:0002027Abdominal pain1POLG CL E G H5428603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM130011969179174763
HP:0002027HP:0002027Abdominal pain1POLG CL E G H5428613662Mitochondrial DNA depletion syndrome 4B, MNGIE type613662C3150914OMIM130011969179174763
HP:0002027HP:0002027Abdominal pain1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002027HP:0002027Abdominal pain1POU6F2 CL E G H11281654Ampola syndromeORPHA145221694609062
HP:0002027HP:0002027Abdominal pain1PPOX CL E G H5498176200Variegate porphyria176200C0162532OMIM1185939280600923
HP:0002027HP:0002027Abdominal pain1PRSS1 CL E G H5644676ORPHA1672649475276000
HP:0002027HP:0002027Abdominal pain1PRSS1 CL E G H5644167800Hereditary pancreatitis167800C0238339OMIM1672649475276000
HP:0002027HP:0002027Abdominal pain1PRSS2 CL E G H5645676ORPHA12299483601564
HP:0002027HP:0002027Abdominal pain1PRTN3 CL E G H5657900ORPHA1449495177020
HP:0002027HP:0002027Abdominal pain1PTPN22 CL E G H26191900ORPHA114289652600716
HP:0002027HP:0002027Abdominal pain1REST CL E G H5978654Ampola syndromeORPHA117909966600571
HP:0002027HP:0002027Abdominal pain1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA143214969967164761
HP:0002027HP:0002027Abdominal pain1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA141739970600404
HP:0002027HP:0002027Abdominal pain1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002027HP:0002027Abdominal pain1SAA1 CL E G H628885445ORPHA132410513104750
HP:0002027HP:0002027Abdominal pain1SCARB2 CL E G H95077259ORPHA1272291665602257
HP:0002027HP:0002027Abdominal pain1SDHB CL E G H639097286ORPHA127966710681185470
HP:0002027HP:0002027Abdominal pain1SDHC CL E G H639197286ORPHA16241510682602413
HP:0002027HP:0002027Abdominal pain1SDHD CL E G H639297286ORPHA117436110683602690
HP:0002027HP:0002027Abdominal pain1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA144210725602645
HP:0002027HP:0002027Abdominal pain1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA1144810726609907
HP:0002027HP:0002027Abdominal pain1SERPING1 CL E G H710100050ORPHA15671881228606860
HP:0002027HP:0002027Abdominal pain1SERPING1 CL E G H710106100Hereditary angioedema type 1106100C2717906OMIM15671881228606860
HP:0002027HP:0002027Abdominal pain1SLC25A26 CL E G H115286616794Combined oxidative phosphorylation deficiency 28616794C4225206OMIM146620661611037
HP:0002027HP:0002027Abdominal pain1SLC40A1 CL E G H30061139491ORPHA16713410909604653
HP:0002027HP:0002027Abdominal pain1SMAD4 CL E G H40891333Chromosome 19, ringCN036553ORPHA114712576770600993
HP:0002027HP:0002027Abdominal pain1SMAD4 CL E G H4089174900Juvenile polyposis syndrome174900C0345893OMIM114712576770600993
HP:0002027HP:0002027Abdominal pain1SOX10 CL E G H6663897ORPHA115119211190602229
HP:0002027HP:0002027Abdominal pain1SOX10 CL E G H6663163746ORPHA115119211190602229
HP:0002027HP:0002027Abdominal pain1SPINK1 CL E G H6690676ORPHA15410011244167790
HP:0002027HP:0002027Abdominal pain1SPINK1 CL E G H6690167800Hereditary pancreatitis167800C0238339OMIM15410011244167790
HP:0002027HP:0002027Abdominal pain1SPINK1 CL E G H6690608189Tropical calcific pancreatitis608189C1842402OMIM15410011244167790
HP:0002027HP:0002027Abdominal pain1STAT4 CL E G H6775117ORPHA165011365600558
HP:0002027HP:0002027Abdominal pain1STK11 CL E G H6794175200Peutz-Jeghers syndrome175200C0031269OMIM1466164311389602216
HP:0002027HP:0002027Abdominal pain1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA115911586605842
HP:0002027HP:0002027Abdominal pain1TET2 CL E G H54790729Anti-factor 8 autoimmunizationORPHA1126725941612839
HP:0002027HP:0002027Abdominal pain1TGFBR2 CL E G H7048144ORPHA114857211773190182
HP:0002027HP:0002027Abdominal pain1TLR4 CL E G H7099117ORPHA1184911850603030
HP:0002027HP:0002027Abdominal pain1TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0002027HP:0002027Abdominal pain1TNFRSF1A CL E G H7132142680TNF receptor-associated periodic fever syndrome (TRAPS)142680C1275126OMIM110927911916191190
HP:0002027HP:0002027Abdominal pain1TP53 CL E G H71571501ORPHA1541203511998191170
HP:0002027HP:0002027Abdominal pain1TP53 CL E G H71571333Chromosome 19, ringCN036553ORPHA1541203511998191170
HP:0002027HP:0002027Abdominal pain1TREH CL E G H11181612119alpha, alpha-Trehalase deficiency612119C0268187OMIM123212266275360
HP:0002027HP:0002027Abdominal pain1TRIM28 CL E G H10155654Ampola syndromeORPHA131716384601742
HP:0002027HP:0002027Abdominal pain1TRIP13 CL E G H9319654Ampola syndromeORPHA1216212307604507
HP:0002027HP:0002027Abdominal pain1TSC1 CL E G H7248538ORPHA1404235112362605284
HP:0002027HP:0002027Abdominal pain1TSC2 CL E G H7249538ORPHA11269558112363191092
HP:0002027HP:0002027Abdominal pain1TYMP CL E G H1890603041Mitochondrial DNA depletion syndrome 1 (MNGIE type)603041C0872218OMIM1953813148131222
HP:0002027HP:0002027Abdominal pain1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002027HP:0002027Abdominal pain1UBAC2 CL E G H337867117ORPHA1175204860
HP:0002027HP:0002027Abdominal pain1WT1 CL E G H749083469ORPHA118463512796607102
HP:0002027HP:0002027Abdominal pain1WT1 CL E G H7490654Ampola syndromeORPHA118463512796607102
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002027HP:0002027Abdominal pain0ABCC2 CL E G H1244234ORPHA06737153601107
HP:0002027HP:0002027Abdominal pain0BCL10 CL E G H891552417ORPHA0362989603517
HP:0002027HP:0002027Abdominal pain0BIRC3 CL E G H33052417ORPHA0119591601721
HP:0002027HP:0002027Abdominal pain0CDH23 CL E G H6407296253ORPHA0361143713733605516
HP:0002027HP:0002027Abdominal pain0DDIT3 CL E G H164999967ORPHA0132726126337
HP:0002027HP:0002027Abdominal pain0ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA02202283309130130
HP:0002027HP:0002027Abdominal pain0FOXP1 CL E G H2708652417ORPHA0762413823605515
HP:0002027HP:0002027Abdominal pain0FUS CL E G H252199967ORPHA01132644010137070
HP:0002027HP:0002027Abdominal pain0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA021124492602646
HP:0002027HP:0002027Abdominal pain0GUCY2C CL E G H2984614616Diarrhea 6614616C3553270OMIM010894688601330
HP:0002027HP:0002027Abdominal pain0HLA-B CL E G H310636426ORPHA053174932142830
HP:0002027HP:0002027Abdominal pain0HLA-DRB1 CL E G H312385414ORPHA026194948142857
HP:0002027HP:0002027Abdominal pain0IGH CL E G H349252417ORPHA01625477146910
HP:0002027HP:0002027Abdominal pain0IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0002027HP:0002027Abdominal pain0IL6 CL E G H356985414ORPHA09386018147620
HP:0002027HP:0002027Abdominal pain0KIT CL E G H381579455ORPHA012111046342164920
HP:0002027HP:0002027Abdominal pain0LACC1 CL E G H14481185414ORPHA034926789613409
HP:0002027HP:0002027Abdominal pain0LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA02214116697603506
HP:0002027HP:0002027Abdominal pain0MALT1 CL E G H1089252417ORPHA071496819604860
HP:0002027HP:0002027Abdominal pain0MIF CL E G H428285414ORPHA041147097153620
HP:0002027HP:0002027Abdominal pain0MMUT CL E G H459479312ORPHA04407526609058
HP:0002027HP:0002027Abdominal pain0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA01157380142408
HP:0002027HP:0002027Abdominal pain0MYC CL E G H4609543ORPHA08607553190080
HP:0002027HP:0002027Abdominal pain0NLRC4 CL E G H5848447045ORPHA0921416412606831
HP:0002027HP:0002027Abdominal pain0NLRP3 CL E G H11454847045ORPHA014248816400606416
HP:0002027HP:0002027Abdominal pain0PIGA CL E G H5277447ORPHA0293208957311770
HP:0002027HP:0002027Abdominal pain0POMT1 CL E G H1058586812ORPHA0965089202607423
HP:0002027HP:0002027Abdominal pain0PORCN CL E G H648402092EhrlichiosisORPHA012121017652300651
HP:0002027HP:0002027Abdominal pain0PPOX CL E G H549879473ORPHA0185939280600923
HP:0002027HP:0002027Abdominal pain0PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA0281199411177060
HP:0002027HP:0002027Abdominal pain0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014289652600716
HP:0002027HP:0002027Abdominal pain0PTPN3 CL E G H577470567ORPHA02399655176877
HP:0002027HP:0002027Abdominal pain0RNF168 CL E G H165918420741ORPHA0612426661612688
HP:0002027HP:0002027Abdominal pain0SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA02322721082608648
HP:0002027HP:0002027Abdominal pain0SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM050440710912600968
HP:0002027HP:0002027Abdominal pain0SLCO1B1 CL E G H105993111ORPHA02615110959604843
HP:0002027HP:0002027Abdominal pain0SLCO1B3 CL E G H282343111ORPHA01017010961605495
HP:0002027HP:0002027Abdominal pain0STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0466164311389602216
HP:0002027HP:0002027Abdominal pain0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA014862411634602272
HP:0002027HP:0002027Abdominal pain0USP8 CL E G H910196253ORPHA018512631603158
HP:0002027HP:0002027Abdominal pain0VPS13A CL E G H232302388ORPHA01165061908605978
HP:0002027HP:0002027Abdominal pain1ABCC2 CL E G H1244234ORPHA06737153601107
HP:0002027HP:0002027Abdominal pain1BCL10 CL E G H891552417ORPHA0362989603517
HP:0002027HP:0002027Abdominal pain1BIRC3 CL E G H33052417ORPHA0119591601721
HP:0002027HP:0002027Abdominal pain1CDH23 CL E G H6407296253ORPHA0361143713733605516
HP:0002027HP:0002027Abdominal pain1DDIT3 CL E G H164999967ORPHA0132726126337
HP:0002027HP:0002027Abdominal pain1ELANE CL E G H19912686Hing Torack Dowston syndromeORPHA02202283309130130
HP:0002027HP:0002027Abdominal pain1FOXP1 CL E G H2708652417ORPHA0762413823605515
HP:0002027HP:0002027Abdominal pain1FUS CL E G H252199967ORPHA01132644010137070
HP:0002027HP:0002027Abdominal pain1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA021124492602646
HP:0002027HP:0002027Abdominal pain1GUCY2C CL E G H2984614616Diarrhea 6614616C3553270OMIM010894688601330
HP:0002027HP:0002027Abdominal pain1HLA-B CL E G H310636426ORPHA053174932142830
HP:0002027HP:0002027Abdominal pain1HLA-DRB1 CL E G H312385414ORPHA026194948142857
HP:0002027HP:0002027Abdominal pain1IGH CL E G H349252417ORPHA01625477146910
HP:0002027HP:0002027Abdominal pain1IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0002027HP:0002027Abdominal pain1IL6 CL E G H356985414ORPHA09386018147620
HP:0002027HP:0002027Abdominal pain1KIT CL E G H381579455ORPHA012111046342164920
HP:0002027HP:0002027Abdominal pain1LACC1 CL E G H14481185414ORPHA034926789613409
HP:0002027HP:0002027Abdominal pain1LRP5 CL E G H40412924Hypoplastic thumbs hydranencephalyORPHA02214116697603506
HP:0002027HP:0002027Abdominal pain1MALT1 CL E G H1089252417ORPHA071496819604860
HP:0002027HP:0002027Abdominal pain1MIF CL E G H428285414ORPHA041147097153620
HP:0002027HP:0002027Abdominal pain1MMUT CL E G H459479312ORPHA04407526609058
HP:0002027HP:0002027Abdominal pain1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA01157380142408
HP:0002027HP:0002027Abdominal pain1MYC CL E G H4609543ORPHA08607553190080
HP:0002027HP:0002027Abdominal pain1NLRC4 CL E G H5848447045ORPHA0921416412606831
HP:0002027HP:0002027Abdominal pain1NLRP3 CL E G H11454847045ORPHA014248816400606416
HP:0002027HP:0002027Abdominal pain1PIGA CL E G H5277447ORPHA0293208957311770
HP:0002027HP:0002027Abdominal pain1POMT1 CL E G H1058586812ORPHA0965089202607423
HP:0002027HP:0002027Abdominal pain1PORCN CL E G H648402092EhrlichiosisORPHA012121017652300651
HP:0002027HP:0002027Abdominal pain1PPOX CL E G H549879473ORPHA0185939280600923
HP:0002027HP:0002027Abdominal pain1PRKCSH CL E G H55892924Hypoplastic thumbs hydranencephalyORPHA0281199411177060
HP:0002027HP:0002027Abdominal pain1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014289652600716
HP:0002027HP:0002027Abdominal pain1PTPN3 CL E G H577470567ORPHA02399655176877
HP:0002027HP:0002027Abdominal pain1RNF168 CL E G H165918420741ORPHA0612426661612688
HP:0002027HP:0002027Abdominal pain1SEC63 CL E G H112312924Hypoplastic thumbs hydranencephalyORPHA02322721082608648
HP:0002027HP:0002027Abdominal pain1SLC12A3 CL E G H6559263800Familial hypokalemia-hypomagnesemia263800C0268450OMIM050440710912600968
HP:0002027HP:0002027Abdominal pain1SLCO1B1 CL E G H105993111ORPHA02615110959604843
HP:0002027HP:0002027Abdominal pain1SLCO1B3 CL E G H282343111ORPHA01017010961605495
HP:0002027HP:0002027Abdominal pain1STK11 CL E G H67942869Hypertrophic osteoarthropathy, primary or idiopathicORPHA0466164311389602216
HP:0002027HP:0002027Abdominal pain1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA014862411634602272
HP:0002027HP:0002027Abdominal pain1USP8 CL E G H910196253ORPHA018512631603158
HP:0002027HP:0002027Abdominal pain1VPS13A CL E G H232302388ORPHA01165061908605978


Genes (216) :ABCA1 ABCC2 ABCG5 ABCG8 ACTG2 ADA2 ALAD ALDOB APC ATRX BAZ1B BCL10 BIRC3 BMPR1A BRCA1 BRCA2 C4A CASR CCR1 CD55 CDC73 CDH23 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEL CFTR CLDN16 CLIP2 COX1 COX2 COX3 CPA1 CPOX CTLA4 CTNNB1 CTRC DAXX DDIT3 DIS3L2 DNASE1L3 ECE1 EDN3 EDNRB ELANE ELN EPCAM EPOR ERAP1 ESR1 EWSR1 F12 F5 FAN1 FAS FH FLI1 FOXP1 FSHR FUS GBA GCGR GDNF GHSR GLA GNA11 GNE GPC3 GPIHBP1 GPR35 GTF2I GTF2IRD1 GUCY2C H19 HBB HEXB HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMBS HPS1 IGH IKZF1 IL10 IL12A IL12A-AS1 IL23R IL6 INHBA JAK2 KIF1B KIT KLRC4 KRAS LACC1 LIMK1 LMF1 LPL LRP5 MALT1 MAX MCM6 MDH2 MEFV MEN1 MET MIF MLH1 MLH3 MLYCD MMUT MPL MSH2 MSH6 MST1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 MT-TF MT-TH MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TW MVK MYC ND1 ND4 ND5 ND6 NLRC4 NLRP12 NLRP3 NME1 NRTN OPLAH PALB2 PALLD PIGA PIGT PIGY PIK3CA PMS1 PMS2 POLG POMT1 PORCN POU6F2 PPOX PRKCSH PRSS1 PRSS2 PRTN3 PTPN22 PTPN3 REST RET RFC2 RNF168 RRM2B SAA1 SCARB2 SDHA SDHAF2 SDHB SDHC SDHD SEC63 SEMA3C SEMA3D SERPING1 SLC12A3 SLC25A26 SLC40A1 SLCO1B1 SLCO1B3 SMAD4 SOX10 SPINK1 STAT4 STK11 TBL2 TCF4 TET2 TGFBR2 TLR4 TMEM127 TNFRSF1A TP53 TREH TRIM28 TRIP13 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TYMP UBAC2 USP8 VHL VPS13A WT1

Diseases (115) :31150 234 210250 155310 615688 100924 229600 873 904 52417 174900 168829 1333 654 117 676 428 226300 96253 609812 248250 550 79273 121300 900 33402 99967 36412 388 897 2686 144 90042 83469 131 64739 608115 77259 438274 314811 301500 324 171 614616 603903 235200 36426 85414 79276 176000 203300 729 79455 2924 223100 342 249100 134610 248360 79312 343 260920 543 47045 611762 575 256700 260005 447 615399 616809 603041 613662 298 86812 2092 79473 176200 167800 397 70567 420741 85445 97286 100050 106100 263800 616794 139491 3111 163746 608189 2869 175200 32960 142680 1501 612119 538 2388 100075 99880 143 652 276152 785 610618 29072 370348 3166 444490 268800 213504 238600 100093
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.