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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002027HP:0002027Abdominal pain0ABCA1 CL E G H1929ORPHA:31150Tangier diseaseHP:0040282 - Frequent191
HP:0002027HP:0002027Abdominal pain0ABCB11 CL E G H864742ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare146
HP:0002027HP:0002027Abdominal pain0ABCB4 CL E G H524445ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare111
HP:0002027HP:0002027Abdominal pain0ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasis111
HP:0002027HP:0002027Abdominal pain0ABCC2 CL E G H124453ORPHA:234Dubin-Johnson syndromeHP:0040283 - Occasional119
HP:0002027HP:0002027Abdominal pain0ABCD1 CL E G H21561ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent135
HP:0002027HP:0002027Abdominal pain0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 1.76
HP:0002027HP:0002027Abdominal pain0ACTG2 CL E G H72145OMIM:155310Visceral myopathy 1.23
HP:0002027HP:0002027Abdominal pain0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional27
HP:0002027HP:0002027Abdominal pain0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0002027HP:0002027Abdominal pain0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040282 - Frequent62
HP:0002027HP:0002027Abdominal pain0ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic62
HP:0002027HP:0002027Abdominal pain0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0002027HP:0002027Abdominal pain0ALDOB CL E G H229417OMIM:229600Fructose intolerance, hereditary.73
HP:0002027HP:0002027Abdominal pain0ALDOB CL E G H229417ORPHA:469Hereditary fructose intoleranceHP:0040281 - Very frequent73
HP:0002027HP:0002027Abdominal pain0ANK1 CL E G H286492ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional150
HP:0002027HP:0002027Abdominal pain0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional6
HP:0002027HP:0002027Abdominal pain0APC CL E G H324583ORPHA:873Desmoid tumorHP:0040282 - Frequent3179
HP:0002027HP:0002027Abdominal pain0APC CL E G H324583OMIM:619182GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS3179
HP:0002027HP:0002027Abdominal pain0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0002027HP:0002027Abdominal pain0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiency19
HP:0002027HP:0002027Abdominal pain0APRT CL E G H353626OMIM:614723Adenine phosphoribosyltransferase deficiency19
HP:0002027HP:0002027Abdominal pain0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0002027HP:0002027Abdominal pain0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0002027HP:0002027Abdominal pain0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0002027HP:0002027Abdominal pain0ATP7A CL E G H538869ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent192
HP:0002027HP:0002027Abdominal pain0ATP8B1 CL E G H52053706ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare144
HP:0002027HP:0002027Abdominal pain0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0002027HP:0002027Abdominal pain0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040283 - Occasional18
HP:0002027HP:0002027Abdominal pain0BCL11A CL E G H5333513221ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome11
HP:0002027HP:0002027Abdominal pain0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional101
HP:0002027HP:0002027Abdominal pain0BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0002027HP:0002027Abdominal pain0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040281 - Very frequent385
HP:0002027HP:0002027Abdominal pain0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent385
HP:0002027HP:0002027Abdominal pain0BMPR1A CL E G H6571076OMIM:174900Juvenile polyposis syndrome385
HP:0002027HP:0002027Abdominal pain0BRCA1 CL E G H6721100ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional5769
HP:0002027HP:0002027Abdominal pain0BRCA1 CL E G H6721100ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent5769
HP:0002027HP:0002027Abdominal pain0BRCA1 CL E G H6721100ORPHA:168829Primary peritoneal carcinomaHP:0040281 - Very frequent5769
HP:0002027HP:0002027Abdominal pain0BRCA2 CL E G H6751101ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional7642
HP:0002027HP:0002027Abdominal pain0BRCA2 CL E G H6751101ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent7642
HP:0002027HP:0002027Abdominal pain0BRCA2 CL E G H6751101ORPHA:654NephroblastomaHP:0040281 - Very frequent7642
HP:0002027HP:0002027Abdominal pain0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0CALR CL E G H8111455ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0CARD8 CL E G H2290017057OMIM:619079INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD301
HP:0002027HP:0002027Abdominal pain0CASK CL E G H85731497OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.118
HP:0002027HP:0002027Abdominal pain0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent272
HP:0002027HP:0002027Abdominal pain0CASR CL E G H8461514ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent272
HP:0002027HP:0002027Abdominal pain0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0002027HP:0002027Abdominal pain0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional105
HP:0002027HP:0002027Abdominal pain0CD46 CL E G H41796953ORPHA:244242HELLP syndromeHP:0040283 - Occasional39
HP:0002027HP:0002027Abdominal pain0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0002027HP:0002027Abdominal pain0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0002027HP:0002027Abdominal pain0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0002027HP:0002027Abdominal pain0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0002027HP:0002027Abdominal pain0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0002027HP:0002027Abdominal pain0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0002027HP:0002027Abdominal pain0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent289
HP:0002027HP:0002027Abdominal pain0CDKN2A CL E G H10291787ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent289
HP:0002027HP:0002027Abdominal pain0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain.3
HP:0002027HP:0002027Abdominal pain0CEL CL E G H10561848OMIM:609812Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction.25
HP:0002027HP:0002027Abdominal pain0CFH CL E G H30754883ORPHA:244242HELLP syndromeHP:0040283 - Occasional86
HP:0002027HP:0002027Abdominal pain0CFI CL E G H34265394ORPHA:244242HELLP syndromeHP:0040283 - Occasional57
HP:0002027HP:0002027Abdominal pain0CFTR CL E G H10801884ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent1371
HP:0002027HP:0002027Abdominal pain0CFTR CL E G H10801884OMIM:167800Pancreatitis, hereditary.1371
HP:0002027HP:0002027Abdominal pain0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040282 - Frequent27
HP:0002027HP:0002027Abdominal pain0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0002027HP:0002027Abdominal pain0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0002027HP:0002027Abdominal pain0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional161
HP:0002027HP:0002027Abdominal pain0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0002027HP:0002027Abdominal pain0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0002027HP:0002027Abdominal pain0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional35
HP:0002027HP:0002027Abdominal pain0CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040283 - Occasional5
HP:0002027HP:0002027Abdominal pain0CPA1 CL E G H13572296ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent5
HP:0002027HP:0002027Abdominal pain0CPOX CL E G H13712321OMIM:121300Coproporphyria72
HP:0002027HP:0002027Abdominal pain0CPOX CL E G H13712321ORPHA:79273Hereditary coproporphyriaHP:0040281 - Very frequent72
HP:0002027HP:0002027Abdominal pain0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile form101
HP:0002027HP:0002027Abdominal pain0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional12
HP:0002027HP:0002027Abdominal pain0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0002027HP:0002027Abdominal pain0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent88
HP:0002027HP:0002027Abdominal pain0CTNNB1 CL E G H14992514ORPHA:873Desmoid tumorHP:0040282 - Frequent88
HP:0002027HP:0002027Abdominal pain0CTNNB1 CL E G H14992514ORPHA:33402Pediatric hepatocellular carcinomaHP:0040281 - Very frequent88
HP:0002027HP:0002027Abdominal pain0CTRC CL E G H113302523ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent39
HP:0002027HP:0002027Abdominal pain0CTRC CL E G H113302523OMIM:167800Pancreatitis, hereditary.39
HP:0002027HP:0002027Abdominal pain0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0002027HP:0002027Abdominal pain0DDIT3 CL E G H16492726ORPHA:99967Myxoid/round cell liposarcomaHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0DGAT1 CL E G H86942843OMIM:615863Diarrhea 7, protein-losing Enteropathy type9
HP:0002027HP:0002027Abdominal pain0DIS3L2 CL E G H12956328648ORPHA:654NephroblastomaHP:0040281 - Very frequent164
HP:0002027HP:0002027Abdominal pain0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0002027HP:0002027Abdominal pain0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0002027HP:0002027Abdominal pain0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0002027HP:0002027Abdominal pain0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0002027HP:0002027Abdominal pain0ECE1 CL E G H18893146ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent13
HP:0002027HP:0002027Abdominal pain0EDN3 CL E G H19083178ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent67
HP:0002027HP:0002027Abdominal pain0EDN3 CL E G H19083178ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent67
HP:0002027HP:0002027Abdominal pain0EDNRB CL E G H19103180ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent55
HP:0002027HP:0002027Abdominal pain0EDNRB CL E G H19103180ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent55
HP:0002027HP:0002027Abdominal pain0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0002027HP:0002027Abdominal pain0ELANE CL E G H19913309ORPHA:2686Cyclic neutropeniaHP:0040283 - Occasional79
HP:0002027HP:0002027Abdominal pain0ELF4 CL E G H20003319OMIM:301074AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL21
HP:0002027HP:0002027Abdominal pain0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0002027HP:0002027Abdominal pain0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional4
HP:0002027HP:0002027Abdominal pain0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0002027HP:0002027Abdominal pain0EPB41 CL E G H20353377ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare6
HP:0002027HP:0002027Abdominal pain0EPB42 CL E G H20383381ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional51
HP:0002027HP:0002027Abdominal pain0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040281 - Very frequent170
HP:0002027HP:0002027Abdominal pain0EPOR CL E G H20573416ORPHA:90042Primary familial polycythemiaHP:0040282 - Frequent43
HP:0002027HP:0002027Abdominal pain0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0ERBB2 CL E G H20643430ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent77
HP:0002027HP:0002027Abdominal pain0ERBB3 CL E G H20653431ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent12
HP:0002027HP:0002027Abdominal pain0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive12
HP:0002027HP:0002027Abdominal pain0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndrome13
HP:0002027HP:0002027Abdominal pain0EWSR1 CL E G H21303508ORPHA:83469Desmoplastic small round cell tumorHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0002027HP:0002027Abdominal pain0F5 CL E G H21533542ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent159
HP:0002027HP:0002027Abdominal pain0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040281 - Very frequent15
HP:0002027HP:0002027Abdominal pain0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040282 - Frequent59
HP:0002027HP:0002027Abdominal pain0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002027HP:0002027Abdominal pain0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0002027HP:0002027Abdominal pain0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0002027HP:0002027Abdominal pain0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumor8
HP:0002027HP:0002027Abdominal pain0FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040283 - Occasional11
HP:0002027HP:0002027Abdominal pain0FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040283 - Occasional184
HP:0002027HP:0002027Abdominal pain0FSHR CL E G H24923969OMIM:608115Ovarian hyperstimulation syndrome.50
HP:0002027HP:0002027Abdominal pain0FSHR CL E G H24923969ORPHA:64739Ovarian hyperstimulation syndromeHP:0040281 - Very frequent50
HP:0002027HP:0002027Abdominal pain0FUS CL E G H25214010ORPHA:99967Myxoid/round cell liposarcomaHP:0040283 - Occasional105
HP:0002027HP:0002027Abdominal pain0G6PD CL E G H25394057OMIM:300908Anemia, nonspherocytic hemolytic, due to g6pd deficiency.101
HP:0002027HP:0002027Abdominal pain0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0GBA1 CL E G H26294177ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemiaHP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0GCGR CL E G H26424192OMIM:619290MAHVASH DISEASE; MVAH1
HP:0002027HP:0002027Abdominal pain0GDNF CL E G H26684232ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent59
HP:0002027HP:0002027Abdominal pain0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0002027HP:0002027Abdominal pain0GHSR CL E G H26934267ORPHA:314811Short stature due to GHSR deficiencyHP:0040281 - Very frequent37
HP:0002027HP:0002027Abdominal pain0GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0002027HP:0002027Abdominal pain0GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0002027HP:0002027Abdominal pain0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040282 - Frequent16
HP:0002027HP:0002027Abdominal pain0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0002027HP:0002027Abdominal pain0GPC3 CL E G H27194451ORPHA:654NephroblastomaHP:0040281 - Very frequent73
HP:0002027HP:0002027Abdominal pain0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0GUCY2C CL E G H29844688OMIM:614616Diarrhea 6HP:0040283 - Occasional12
HP:0002027HP:0002027Abdominal pain0GYPC CL E G H29954704ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare5
HP:0002027HP:0002027Abdominal pain0H19 CL E G H2831204713ORPHA:654NephroblastomaHP:0040281 - Very frequent4
HP:0002027HP:0002027Abdominal pain0HBB CL E G H30434827ORPHA:90039Hemoglobin D disease580
HP:0002027HP:0002027Abdominal pain0HBB CL E G H30434827ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome580
HP:0002027HP:0002027Abdominal pain0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0002027HP:0002027Abdominal pain0HBG1 CL E G H30474831ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome35
HP:0002027HP:0002027Abdominal pain0HBG2 CL E G H30484832ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome50
HP:0002027HP:0002027Abdominal pain0HELLPAR CL E G H10110169243984ORPHA:244242HELLP syndromeHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0002027HP:0002027Abdominal pain0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0002027HP:0002027Abdominal pain0HFE CL E G H30774886OMIM:176200Porphyria variegata.38
HP:0002027HP:0002027Abdominal pain0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040282 - Frequent38
HP:0002027HP:0002027Abdominal pain0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040282 - Frequent4
HP:0002027HP:0002027Abdominal pain0HLA-B CL E G H31064932ORPHA:397Giant cell arteritisHP:0040283 - Occasional4
HP:0002027HP:0002027Abdominal pain0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040282 - Frequent4
HP:0002027HP:0002027Abdominal pain0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0002027HP:0002027Abdominal pain0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0002027HP:0002027Abdominal pain0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0002027HP:0002027Abdominal pain0HLA-DRB1 CL E G H31234948ORPHA:397Giant cell arteritisHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0HMBS CL E G H31454982ORPHA:79276Acute intermittent porphyriaHP:0040281 - Very frequent81
HP:0002027HP:0002027Abdominal pain0HMBS CL E G H31454982OMIM:176000Porphyria, acute intermittent.81
HP:0002027HP:0002027Abdominal pain0HPS1 CL E G H32575163OMIM:203300Hermansky-Pudlak syndrome 1.121
HP:0002027HP:0002027Abdominal pain0HS3ST6 CL E G H6471114178OMIM:619367ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0002027HP:0002027Abdominal pain0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040282 - Frequent60
HP:0002027HP:0002027Abdominal pain0IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040283 - Occasional7
HP:0002027HP:0002027Abdominal pain0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0002027HP:0002027Abdominal pain0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040282 - Frequent2
HP:0002027HP:0002027Abdominal pain0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0IL6 CL E G H35696018OMIM:266600Inflammatory bowel disease 1, Crohn disease.2
HP:0002027HP:0002027Abdominal pain0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional135
HP:0002027HP:0002027Abdominal pain0IRAK1 CL E G H36546112ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0002027HP:0002027Abdominal pain0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0JAK2 CL E G H37176192ORPHA:131Budd-Chiari syndromeHP:0040282 - Frequent57
HP:0002027HP:0002027Abdominal pain0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040281 - Very frequent57
HP:0002027HP:0002027Abdominal pain0KCNN4 CL E G H37836293ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0002027HP:0002027Abdominal pain0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0002027HP:0002027Abdominal pain0KIT CL E G H38156342ORPHA:79455Cutaneous mastocytomaHP:0040283 - Occasional327
HP:0002027HP:0002027Abdominal pain0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0002027HP:0002027Abdominal pain0KLF1 CL E G H106616345ORPHA:251380Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome42
HP:0002027HP:0002027Abdominal pain0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0KRAS CL E G H38456407ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent196
HP:0002027HP:0002027Abdominal pain0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040281 - Very frequent196
HP:0002027HP:0002027Abdominal pain0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia106
HP:0002027HP:0002027Abdominal pain0LRP5 CL E G H40416697ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional125
HP:0002027HP:0002027Abdominal pain0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional59
HP:0002027HP:0002027Abdominal pain0MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040283 - Occasional6
HP:0002027HP:0002027Abdominal pain0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0002027HP:0002027Abdominal pain0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiency94
HP:0002027HP:0002027Abdominal pain0MCM6 CL E G H41756949OMIM:223100LACTOSE INTOLERANCE, ADULT TYPE5
HP:0002027HP:0002027Abdominal pain0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0002027HP:0002027Abdominal pain0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040282 - Frequent281
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H42106998ORPHA:342Familial Mediterranean feverHP:0040281 - Very frequent281
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002027HP:0002027Abdominal pain0MEFV CL E G H42106998OMIM:134610FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT281
HP:0002027HP:0002027Abdominal pain0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0002027HP:0002027Abdominal pain0MET CL E G H42337029ORPHA:33402Pediatric hepatocellular carcinomaHP:0040281 - Very frequent375
HP:0002027HP:0002027Abdominal pain0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0MITF CL E G H42867105ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent91
HP:0002027HP:0002027Abdominal pain0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040281 - Very frequent1819
HP:0002027HP:0002027Abdominal pain0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040281 - Very frequent131
HP:0002027HP:0002027Abdominal pain0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0MLYCD CL E G H234177150OMIM:248360Malonyl-CoA decarboxylase deficiency.80
HP:0002027HP:0002027Abdominal pain0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040281 - Very frequent97
HP:0002027HP:0002027Abdominal pain0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiency26
HP:0002027HP:0002027Abdominal pain0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040281 - Very frequent2162
HP:0002027HP:0002027Abdominal pain0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040281 - Very frequent2232
HP:0002027HP:0002027Abdominal pain0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0002027HP:0002027Abdominal pain0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040281 - Very frequent150
HP:0002027HP:0002027Abdominal pain0MYC CL E G H46097553ORPHA:543Burkitt lymphomaHP:0040283 - Occasional11
HP:0002027HP:0002027Abdominal pain0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0002027HP:0002027Abdominal pain0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0002027HP:0002027Abdominal pain0NKX2-5 CL E G H14822488ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent90
HP:0002027HP:0002027Abdominal pain0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0002027HP:0002027Abdominal pain0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040283 - Occasional217
HP:0002027HP:0002027Abdominal pain0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040282 - Frequent217
HP:0002027HP:0002027Abdominal pain0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiency13
HP:0002027HP:0002027Abdominal pain0NOD2 CL E G H641275331OMIM:266600Inflammatory bowel disease 1, Crohn disease.187
HP:0002027HP:0002027Abdominal pain0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0002027HP:0002027Abdominal pain0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional241
HP:0002027HP:0002027Abdominal pain0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional69
HP:0002027HP:0002027Abdominal pain0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0002027HP:0002027Abdominal pain0NR1H4 CL E G H99717967ORPHA:69665Intrahepatic cholestasis of pregnancyHP:0040284 - Very rare14
HP:0002027HP:0002027Abdominal pain0NRTN CL E G H49028007ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent4
HP:0002027HP:0002027Abdominal pain0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0002027HP:0002027Abdominal pain0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional5
HP:0002027HP:0002027Abdominal pain0OPLAH CL E G H268738149OMIM:2600055-@oxoprolinase deficiency.5
HP:0002027HP:0002027Abdominal pain0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to369
HP:0002027HP:0002027Abdominal pain0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0002027HP:0002027Abdominal pain0P4HA2 CL E G H89748547ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0PALB2 CL E G H7972826144ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent1349
HP:0002027HP:0002027Abdominal pain0PALLD CL E G H2302217068ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent192
HP:0002027HP:0002027Abdominal pain0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional39
HP:0002027HP:0002027Abdominal pain0PIEZO1 CL E G H978028993ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040283 - Occasional36
HP:0002027HP:0002027Abdominal pain0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuria46
HP:0002027HP:0002027Abdominal pain0PIGT CL E G H5160414938OMIM:615399Paroxysmal nocturnal hemoglobinuria 2.12
HP:0002027HP:0002027Abdominal pain0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0002027HP:0002027Abdominal pain0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040281 - Very frequent162
HP:0002027HP:0002027Abdominal pain0PIK3CG CL E G H52948978OMIM:619802IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD972
HP:0002027HP:0002027Abdominal pain0PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040282 - Frequent563
HP:0002027HP:0002027Abdominal pain0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional118
HP:0002027HP:0002027Abdominal pain0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040281 - Very frequent56
HP:0002027HP:0002027Abdominal pain0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040281 - Very frequent1121
HP:0002027HP:0002027Abdominal pain0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 2560
HP:0002027HP:0002027Abdominal pain0POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).464
HP:0002027HP:0002027Abdominal pain0POLG CL E G H54289179OMIM:613662Mitochondrial DNA depletion syndrome 4B (mngie type).464
HP:0002027HP:0002027Abdominal pain0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent464
HP:0002027HP:0002027Abdominal pain0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0002027HP:0002027Abdominal pain0PORCN CL E G H6484017652ORPHA:2092Focal dermal hypoplasiaHP:0040283 - Occasional20
HP:0002027HP:0002027Abdominal pain0POU6F2 CL E G H1128121694ORPHA:654NephroblastomaHP:0040281 - Very frequent2
HP:0002027HP:0002027Abdominal pain0PPOX CL E G H54989280ORPHA:79473Porphyria variegataHP:0040281 - Very frequent41
HP:0002027HP:0002027Abdominal pain0PPOX CL E G H54989280OMIM:176200Porphyria variegata.41
HP:0002027HP:0002027Abdominal pain0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional134
HP:0002027HP:0002027Abdominal pain0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent134
HP:0002027HP:0002027Abdominal pain0PRKCSH CL E G H55899411ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional63
HP:0002027HP:0002027Abdominal pain0PRSS1 CL E G H56449475ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent51
HP:0002027HP:0002027Abdominal pain0PRSS1 CL E G H56449475OMIM:167800Pancreatitis, hereditary.51
HP:0002027HP:0002027Abdominal pain0PRSS2 CL E G H56459483ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0PRSS2 CL E G H56459483OMIM:167800Pancreatitis, hereditary.1
HP:0002027HP:0002027Abdominal pain0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0PTEN CL E G H57289588ORPHA:79076Juvenile polyposis of infancyHP:0040282 - Frequent948
HP:0002027HP:0002027Abdominal pain0PTPN22 CL E G H261919652ORPHA:397Giant cell arteritisHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0002027HP:0002027Abdominal pain0PTPN3 CL E G H57749655ORPHA:70567CholangiocarcinomaHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0PTPRO CL E G H58009678ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0RABL3 CL E G H28528218072ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0RAD21 CL E G H58859811OMIM:611376Mungan syndrome25
HP:0002027HP:0002027Abdominal pain0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0002027HP:0002027Abdominal pain0REST CL E G H59789966ORPHA:654NephroblastomaHP:0040281 - Very frequent7
HP:0002027HP:0002027Abdominal pain0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0002027HP:0002027Abdominal pain0RET CL E G H59799967ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent572
HP:0002027HP:0002027Abdominal pain0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0002027HP:0002027Abdominal pain0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0RIPK1 CL E G H873710019OMIM:618852AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002027HP:0002027Abdominal pain0RNF168 CL E G H16591826661ORPHA:420741RIDDLE syndromeHP:0040283 - Occasional7
HP:0002027HP:0002027Abdominal pain0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent125
HP:0002027HP:0002027Abdominal pain0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0002027HP:0002027Abdominal pain0SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040282 - Frequent2
HP:0002027HP:0002027Abdominal pain0SCARB2 CL E G H9501665ORPHA:77259Gaucher disease type 1HP:0040282 - Frequent77
HP:0002027HP:0002027Abdominal pain0SCN1B CL E G H632410586ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent126
HP:0002027HP:0002027Abdominal pain0SCN5A CL E G H633110593ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent1134
HP:0002027HP:0002027Abdominal pain0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0002027HP:0002027Abdominal pain0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0002027HP:0002027Abdominal pain0SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndromeHP:0040282 - Frequent237
HP:0002027HP:0002027Abdominal pain0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0002027HP:0002027Abdominal pain0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0002027HP:0002027Abdominal pain0SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndromeHP:0040282 - Frequent147
HP:0002027HP:0002027Abdominal pain0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0002027HP:0002027Abdominal pain0SDHD CL E G H639210683ORPHA:100093Carcinoid syndrome129
HP:0002027HP:0002027Abdominal pain0SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndromeHP:0040282 - Frequent129
HP:0002027HP:0002027Abdominal pain0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0002027HP:0002027Abdominal pain0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0002027HP:0002027Abdominal pain0SEC63 CL E G H1123121082ORPHA:2924Isolated polycystic liver diseaseHP:0040283 - Occasional137
HP:0002027HP:0002027Abdominal pain0SEMA3C CL E G H1051210725ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0SEMA3D CL E G H22311710726ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent2
HP:0002027HP:0002027Abdominal pain0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040281 - Very frequent48
HP:0002027HP:0002027Abdominal pain0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0SERPING1 CL E G H7101228OMIM:106100Angioedema, hereditary, 1.64
HP:0002027HP:0002027Abdominal pain0SERPING1 CL E G H7101228ORPHA:100050Hereditary angioedema type 1HP:0040281 - Very frequent64
HP:0002027HP:0002027Abdominal pain0SI CL E G H647610856ORPHA:35122Congenital sucrase-isomaltase deficiency98
HP:0002027HP:0002027Abdominal pain0SI CL E G H647610856OMIM:222900Sucrase-isomaltase deficiency, congenital98
HP:0002027HP:0002027Abdominal pain0SLC12A3 CL E G H655910912OMIM:263800Gitelman syndrome145
HP:0002027HP:0002027Abdominal pain0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040282 - Frequent145
HP:0002027HP:0002027Abdominal pain0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0002027HP:0002027Abdominal pain0SLC25A26 CL E G H11528620661OMIM:616794Combined oxidative phosphorylation deficiency 285
HP:0002027HP:0002027Abdominal pain0SLC40A1 CL E G H3006110909ORPHA:139491Hemochromatosis type 4HP:0040282 - Frequent56
HP:0002027HP:0002027Abdominal pain0SLC4A1 CL E G H652111027ORPHA:3202Dehydrated hereditary stomatocytosisHP:0040283 - Occasional109
HP:0002027HP:0002027Abdominal pain0SLC4A1 CL E G H652111027ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional109
HP:0002027HP:0002027Abdominal pain0SMAD4 CL E G H40896770ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent504
HP:0002027HP:0002027Abdominal pain0SMAD4 CL E G H40896770OMIM:174900Juvenile polyposis syndrome504
HP:0002027HP:0002027Abdominal pain0SMO CL E G H660811119ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent22
HP:0002027HP:0002027Abdominal pain0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040281 - Very frequent61
HP:0002027HP:0002027Abdominal pain0SOX10 CL E G H666311190ORPHA:897Waardenburg-Shah syndromeHP:0040282 - Frequent61
HP:0002027HP:0002027Abdominal pain0SPINK1 CL E G H669011244ORPHA:676Hereditary chronic pancreatitisHP:0040281 - Very frequent34
HP:0002027HP:0002027Abdominal pain0SPINK1 CL E G H669011244OMIM:167800Pancreatitis, hereditary.34
HP:0002027HP:0002027Abdominal pain0SPINK1 CL E G H669011244OMIM:608189Tropical calcific pancreatitis.34
HP:0002027HP:0002027Abdominal pain0SPP1 CL E G H669611255ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional
HP:0002027HP:0002027Abdominal pain0SPTA1 CL E G H670811272ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare228
HP:0002027HP:0002027Abdominal pain0SPTA1 CL E G H670811272ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional228
HP:0002027HP:0002027Abdominal pain0SPTB CL E G H671011274ORPHA:288Hereditary elliptocytosisHP:0040284 - Very rare156
HP:0002027HP:0002027Abdominal pain0SPTB CL E G H671011274ORPHA:822Hereditary spherocytosisHP:0040283 - Occasional156
HP:0002027HP:0002027Abdominal pain0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002027HP:0002027Abdominal pain0SREBF1 CL E G H672011289ORPHA:388Hirschsprung diseaseHP:0040281 - Very frequent1
HP:0002027HP:0002027Abdominal pain0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0002027HP:0002027Abdominal pain0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiency45
HP:0002027HP:0002027Abdominal pain0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional110
HP:0002027HP:0002027Abdominal pain0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040282 - Frequent2
HP:0002027HP:0002027Abdominal pain0STAT4 CL E G H677511365ORPHA:93552Pediatric systemic lupus erythematosusHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0002027HP:0002027Abdominal pain0STK11 CL E G H679411389OMIM:175200Peutz-Jeghers syndrome.740
HP:0002027HP:0002027Abdominal pain0STK11 CL E G H679411389ORPHA:2869Peutz-Jeghers syndromeHP:0040283 - Occasional740
HP:0002027HP:0002027Abdominal pain0STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040283 - Occasional2
HP:0002027HP:0002027Abdominal pain0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0SYK CL E G H685011491OMIM:619381IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD821
HP:0002027HP:0002027Abdominal pain0TBC1D8B CL E G H5488524715ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional22
HP:0002027HP:0002027Abdominal pain0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0002027HP:0002027Abdominal pain0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0002027HP:0002027Abdominal pain0TERT CL E G H701511730ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent238
HP:0002027HP:0002027Abdominal pain0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0002027HP:0002027Abdominal pain0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040281 - Very frequent3
HP:0002027HP:0002027Abdominal pain0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0002027HP:0002027Abdominal pain0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040281 - Very frequent253
HP:0002027HP:0002027Abdominal pain0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040282 - Frequent3
HP:0002027HP:0002027Abdominal pain0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0002027HP:0002027Abdominal pain0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0002027HP:0002027Abdominal pain0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040281 - Very frequent131
HP:0002027HP:0002027Abdominal pain0TP53 CL E G H715711998ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent911
HP:0002027HP:0002027Abdominal pain0TP53 CL E G H715711998ORPHA:1333Familial pancreatic carcinomaHP:0040281 - Very frequent911
HP:0002027HP:0002027Abdominal pain0TREH CL E G H1118112266OMIM:612119Trehalase deficiency.2
HP:0002027HP:0002027Abdominal pain0TREH CL E G H1118112266ORPHA:103909Trehalase deficiency2
HP:0002027HP:0002027Abdominal pain0TRIM28 CL E G H1015516384ORPHA:654NephroblastomaHP:0040281 - Very frequent2
HP:0002027HP:0002027Abdominal pain0TRIP13 CL E G H931912307ORPHA:654NephroblastomaHP:0040281 - Very frequent2
HP:0002027HP:0002027Abdominal pain0TRPC6 CL E G H722512338ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional107
HP:0002027HP:0002027Abdominal pain0TRPM4 CL E G H5479517993ORPHA:871Familial progressive cardiac conduction defectHP:0040282 - Frequent124
HP:0002027HP:0002027Abdominal pain0TSC1 CL E G H724812362ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent1090
HP:0002027HP:0002027Abdominal pain0TSC2 CL E G H724912363ORPHA:538LymphangioleiomyomatosisHP:0040282 - Frequent2738
HP:0002027HP:0002027Abdominal pain0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiency85
HP:0002027HP:0002027Abdominal pain0TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type).138
HP:0002027HP:0002027Abdominal pain0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040281 - Very frequent138
HP:0002027HP:0002027Abdominal pain0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040282 - Frequent
HP:0002027HP:0002027Abdominal pain0UNC45A CL E G H5589830594OMIM:619377OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002027HP:0002027Abdominal pain0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0002027HP:0002027Abdominal pain0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0002027HP:0002027Abdominal pain0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0002027HP:0002027Abdominal pain0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0002027HP:0002027Abdominal pain0WT1 CL E G H749012796ORPHA:83469Desmoplastic small round cell tumorHP:0040281 - Very frequent177
HP:0002027HP:0002027Abdominal pain0WT1 CL E G H749012796ORPHA:656Genetic steroid-resistant nephrotic syndromeHP:0040283 - Occasional177
HP:0002027HP:0002027Abdominal pain0WT1 CL E G H749012796ORPHA:654NephroblastomaHP:0040281 - Very frequent177
HP:0002027HP:0002027Abdominal pain0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional1
HP:0002027HP:0002027Abdominal pain0ZNRF3 CL E G H8413318126ORPHA:1501Adrenocortical carcinomaHP:0040282 - Frequent
HP:0002027HP:0032546Abdominal guarding1 CL E G H
HP:0002027HP:0033400Acute abdomen1 CL E G H
HP:0002027HP:0011848Abdominal colic1ABCB4 CL E G H524445ORPHA:69663Low phospholipid-associated cholelithiasisHP:0040281 - Very frequent111
HP:0002027HP:0011848Abdominal colic1ALAD CL E G H210395OMIM:612740Porphyria, acute hepatic.62
HP:0002027HP:0011848Abdominal colic1APRT CL E G H353626ORPHA:976Adenine phosphoribosyltransferase deficiencyHP:0040283 - Occasional19
HP:0002027HP:0032155Abdominal cramps1ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0002027HP:0002574Episodic abdominal pain1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040282 - Frequent169
HP:0002027HP:0032155Abdominal cramps1CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0002027HP:0002574Episodic abdominal pain1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0002027HP:0002574Episodic abdominal pain1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0002027HP:0002574Episodic abdominal pain1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0002027HP:0410281Dyspepsia1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent678
HP:0002027HP:0410281Dyspepsia1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040282 - Frequent18
HP:0002027HP:0002574Episodic abdominal pain1CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0002027HP:0002574Episodic abdominal pain1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040282 - Frequent
HP:0002027HP:0011848Abdominal colic1DGAT1 CL E G H86942843OMIM:615863Diarrhea 7, protein-losing Enteropathy type9
HP:0002027HP:0002574Episodic abdominal pain1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002027HP:0002574Episodic abdominal pain1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0002027HP:0002574Episodic abdominal pain1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0002027HP:0002574Episodic abdominal pain1ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive.12
HP:0002027HP:0002574Episodic abdominal pain1ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040282 - Frequent13
HP:0002027HP:0002574Episodic abdominal pain1F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0002027HP:0002574Episodic abdominal pain1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0002027HP:0002574Episodic abdominal pain1FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0002027HP:0002574Episodic abdominal pain1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0002027HP:0002574Episodic abdominal pain1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0002027HP:0002574Episodic abdominal pain1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0002027HP:0002574Episodic abdominal pain1LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0002027HP:0002574Episodic abdominal pain1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0002027HP:0002574Episodic abdominal pain1MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent94
HP:0002027HP:0002574Episodic abdominal pain1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0002027HP:0002574Episodic abdominal pain1MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002027HP:0002574Episodic abdominal pain1MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent26
HP:0002027HP:0002574Episodic abdominal pain1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0002027HP:0002574Episodic abdominal pain1NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent13
HP:0002027HP:0002574Episodic abdominal pain1PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040282 - Frequent46
HP:0002027HP:0032545Abdominal rigidity1PKHD1 CL E G H53149016ORPHA:53035Caroli diseaseHP:0040283 - Occasional563
HP:0002027HP:0002574Episodic abdominal pain1PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040283 - Occasional60
HP:0002027HP:0032155Abdominal cramps1POLG CL E G H54289179OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)464
HP:0002027HP:0002574Episodic abdominal pain1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0002027HP:0002574Episodic abdominal pain1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0002027HP:0032155Abdominal cramps1RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0002027HP:0002574Episodic abdominal pain1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0002027HP:0002574Episodic abdominal pain1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0002027HP:0002574Episodic abdominal pain1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0002027HP:0002574Episodic abdominal pain1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0002027HP:0002574Episodic abdominal pain1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0002027HP:0002574Episodic abdominal pain1SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040282 - Frequent129
HP:0002027HP:0002574Episodic abdominal pain1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0002027HP:0002574Episodic abdominal pain1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0002027HP:0011848Abdominal colic1SI CL E G H647610856ORPHA:35122Congenital sucrase-isomaltase deficiencyHP:0040283 - Occasional98
HP:0002027HP:0002574Episodic abdominal pain1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002027HP:0032155Abdominal cramps1SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0002027HP:0002574Episodic abdominal pain1STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent45
HP:0002027HP:0032155Abdominal cramps1TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0002027HP:0002574Episodic abdominal pain1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0002027HP:0002574Episodic abdominal pain1TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent85
HP:0002027HP:0032155Abdominal cramps1TYMP CL E G H18903148OMIM:603041Mitochondrial DNA depletion syndrome 1 (mngie type)138
HP:0002027HP:0002574Episodic abdominal pain1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0002027HP:0002574Episodic abdominal pain1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490


Genes (333) :ABCA1 ABCB11 ABCB4 ABCC2 ABCD1 ABCG8 ACTG2 ACTN4 ADA2 ALAD ALDH4A1 ALDOB ANK1 ANKFY1 ANLN APC APOL1 APRT ARHGAP24 ARHGDIA ASXL1 ATP7A ATP8B1 ATRX BAZ1B BCL10 BCL11A BCL7B BCOR BIRC3 BMP2 BMP6 BMPR1A BRCA1 BRCA2 BUD23 C4A CALR CARD8 CASK CASR CBL CCND1 CCR1 CD2AP CD46 CD55 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CEBPE CEL CFH CFI CFTR CLCNKB CLDN16 CLIP2 CLPB COL4A3 COL4A5 COL4A6 COQ8B CORIN CPA1 CPOX CPT2 CRB2 CTLA4 CTNNB1 CTRC DAAM2 DAXX DDIT3 DGAT1 DIS3L2 DLST DMPK DNAJC30 DNASE1L3 DNMT3A ECE1 EDN3 EDNRB EIF4H ELANE ELF4 ELN EMP2 EPAS1 EPB41 EPB42 EPCAM EPOR ERAP1 ERBB2 ERBB3 ESR1 EWSR1 F12 F5 FAN1 FAS FGF13 FH FIP1L1 FKBP6 FLI1 FLT1 FOXP1 FSHR FUS G6PD GAPVD1 GBA1 GCGR GDNF GFI1 GHSR GLA GNA11 GNE GPC3 GPR35 GTF2I GTF2IRD1 GTF2IRD2 GUCY2C GYPC H19 HBB HBG1 HBG2 HELLPAR HEXB HFE HLA-B HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQB1 HLA-DRB1 HMBS HPS1 HS3ST6 IFNGR1 IGH IKZF1 IL10 IL12A IL12A-AS1 IL23R IL6 INF2 IRAK1 IRF2BP2 IRF4 JAK2 KCNN4 KIF1B KIT KLF1 KLRC4 KRAS LACC1 LIG3 LIMK1 LPL LRP5 MAGI2 MALT1 MAX MC2R MCM6 MDH2 MED12 MEFV MEN1 MET METTL27 MIF MITF MLH1 MLH3 MLXIPL MLYCD MMUT MPL MRAP MSH2 MSH6 MST1 MVK MYC MYO1E NABP1 NCF1 NF1 NKX2-5 NLRP12 NLRP3 NNT NOD2 NPHS1 NPHS2 NPM1 NR1H4 NRTN NUMA1 NUP107 NUP133 NUP160 NUP205 NUP37 NUP85 NUP93 OPLAH OTC OTULIN P4HA2 PALB2 PALLD PAX2 PIEZO1 PIGA PIGT PIGY PIK3CA PIK3CG PKHD1 PLCE1 PML PMS1 PMS2 PNPT1 POLG POMT1 PORCN POU6F2 PPOX PRKAR1A PRKCSH PRSS1 PRSS2 PRTN3 PTEN PTPN22 PTPN3 PTPRO RABL3 RAD21 RARA RBCK1 REST RET RFC2 RIPK1 RNF168 RPS20 RRM2B RUNX1 SAA1 SCARB2 SCN1B SCN5A SDHA SDHAF2 SDHB SDHC SDHD SEC63 SEMA3C SEMA3D SEMA4A SEMA4D SERPING1 SI SLC12A3 SLC25A11 SLC25A26 SLC40A1 SLC4A1 SMAD4 SMO SOX10 SPINK1 SPP1 SPTA1 SPTB SPTBN1 SREBF1 SRP54 SRSF2 STAR STAT3 STAT4 STAT5B STK11 STOX1 STX1A SYK TBC1D8B TBL1XR1 TBL2 TCF4 TCIRG1 TERT TET2 TGFBR2 TLR4 TMEM127 TMEM270 TNFRSF1A TP53 TREH TRIM28 TRIP13 TRPC6 TRPM4 TSC1 TSC2 TXNRD2 TYMP UBAC2 UNC45A VHL VPS37D WT1 ZBTB16 ZNRF3

Diseases (171) :ORPHA:31150 ORPHA:69665 ORPHA:69663 ORPHA:234 ORPHA:388 OMIM:210250 OMIM:155310 ORPHA:656 OMIM:615688 ORPHA:100924 OMIM:612740 ORPHA:79101 OMIM:229600 ORPHA:469 ORPHA:822 ORPHA:873 OMIM:619182 ORPHA:99818 ORPHA:976 OMIM:614723 ORPHA:98850 ORPHA:98849 ORPHA:100075 ORPHA:904 ORPHA:52417 ORPHA:251380 ORPHA:520 OMIM:235200 ORPHA:465508 ORPHA:440437 ORPHA:79076 OMIM:174900 ORPHA:70567 ORPHA:1333 ORPHA:168829 ORPHA:654 ORPHA:117 ORPHA:131 OMIM:619079 OMIM:300908 ORPHA:428 ORPHA:676 ORPHA:892 ORPHA:244242 OMIM:226300 ORPHA:99880 ORPHA:143 ORPHA:652 ORPHA:276152 ORPHA:1501 OMIM:260570 OMIM:609812 OMIM:167800 ORPHA:358 OMIM:248250 ORPHA:486 ORPHA:1018 ORPHA:275555 OMIM:121300 ORPHA:79273 ORPHA:228305 ORPHA:900 ORPHA:33402 ORPHA:99967 OMIM:615863 ORPHA:29072 ORPHA:589821 ORPHA:36412 ORPHA:276621 ORPHA:897 ORPHA:2686 OMIM:301074 ORPHA:288 ORPHA:144 ORPHA:90042 OMIM:243180 ORPHA:785 ORPHA:83469 OMIM:610618 OMIM:301058 ORPHA:370348 OMIM:608115 ORPHA:64739 ORPHA:77259 ORPHA:438274 OMIM:619290 ORPHA:314811 OMIM:301500 ORPHA:324 ORPHA:3166 ORPHA:171 OMIM:614616 ORPHA:90039 OMIM:603903 OMIM:268800 OMIM:176200 ORPHA:397 ORPHA:29207 ORPHA:36426 OMIM:212750 ORPHA:85414 ORPHA:79276 OMIM:176000 OMIM:203300 OMIM:619367 OMIM:266600 ORPHA:93552 ORPHA:3452 ORPHA:729 ORPHA:3202 OMIM:256700 ORPHA:79455 ORPHA:298 OMIM:238600 ORPHA:2924 ORPHA:361 OMIM:223100 OMIM:301068 ORPHA:342 OMIM:249100 OMIM:134610 OMIM:248360 ORPHA:79312 OMIM:260920 ORPHA:343 ORPHA:543 ORPHA:871 OMIM:611762 ORPHA:47045 ORPHA:575 OMIM:617321 OMIM:260005 OMIM:311250 OMIM:617099 ORPHA:447 OMIM:615399 OMIM:616809 OMIM:619802 ORPHA:53035 ORPHA:101111 OMIM:603041 OMIM:613662 ORPHA:86812 ORPHA:2092 ORPHA:79473 OMIM:611376 OMIM:615895 OMIM:618852 ORPHA:420741 ORPHA:85445 ORPHA:97286 ORPHA:100093 OMIM:106100 ORPHA:100050 ORPHA:35122 OMIM:222900 OMIM:263800 OMIM:616794 ORPHA:139491 ORPHA:163746 OMIM:608189 OMIM:619475 OMIM:175200 ORPHA:2869 OMIM:619381 OMIM:142680 ORPHA:32960 OMIM:612119 ORPHA:103909 ORPHA:538 OMIM:619377
 

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