Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002027	HP:0002027	Abdominal pain	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent	191
HP:0002027	HP:0002027	Abdominal pain	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0002027	HP:0002027	Abdominal pain	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0002027	HP:0002027	Abdominal pain	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis		111
HP:0002027	HP:0002027	Abdominal pain	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional	119
HP:0002027	HP:0002027	Abdominal pain	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	135
HP:0002027	HP:0002027	Abdominal pain	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.	76
HP:0002027	HP:0002027	Abdominal pain	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0002027	HP:0002027	Abdominal pain	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	27
HP:0002027	HP:0002027	Abdominal pain	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0002027	HP:0002027	Abdominal pain	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040282 - Frequent	62
HP:0002027	HP:0002027	Abdominal pain	0	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic		62
HP:0002027	HP:0002027	Abdominal pain	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0002027	HP:0002027	Abdominal pain	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.	73
HP:0002027	HP:0002027	Abdominal pain	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040281 - Very frequent	73
HP:0002027	HP:0002027	Abdominal pain	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	150
HP:0002027	HP:0002027	Abdominal pain	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	6
HP:0002027	HP:0002027	Abdominal pain	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent	3179
HP:0002027	HP:0002027	Abdominal pain	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0002027	HP:0002027	Abdominal pain	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002027	HP:0002027	Abdominal pain	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency		19
HP:0002027	HP:0002027	Abdominal pain	0	APRT CL E G H	353	626	OMIM:614723	Adenine phosphoribosyltransferase deficiency		19
HP:0002027	HP:0002027	Abdominal pain	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0002027	HP:0002027	Abdominal pain	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0002027	HP:0002027	Abdominal pain	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0002027	HP:0002027	Abdominal pain	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	192
HP:0002027	HP:0002027	Abdominal pain	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0002027	HP:0002027	Abdominal pain	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0002027	HP:0002027	Abdominal pain	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	18
HP:0002027	HP:0002027	Abdominal pain	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		11
HP:0002027	HP:0002027	Abdominal pain	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	BCOR CL E G H	54880	20893	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	101
HP:0002027	HP:0002027	Abdominal pain	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0002027	HP:0002027	Abdominal pain	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	385
HP:0002027	HP:0002027	Abdominal pain	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0002027	HP:0002027	Abdominal pain	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0002027	HP:0002027	Abdominal pain	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional	5769
HP:0002027	HP:0002027	Abdominal pain	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	5769
HP:0002027	HP:0002027	Abdominal pain	0	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma	HP:0040281 - Very frequent	5769
HP:0002027	HP:0002027	Abdominal pain	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional	7642
HP:0002027	HP:0002027	Abdominal pain	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	7642
HP:0002027	HP:0002027	Abdominal pain	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	7642
HP:0002027	HP:0002027	Abdominal pain	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002027	HP:0002027	Abdominal pain	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	118
HP:0002027	HP:0002027	Abdominal pain	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	272
HP:0002027	HP:0002027	Abdominal pain	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	272
HP:0002027	HP:0002027	Abdominal pain	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0002027	HP:0002027	Abdominal pain	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	105
HP:0002027	HP:0002027	Abdominal pain	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	39
HP:0002027	HP:0002027	Abdominal pain	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0002027	HP:0002027	Abdominal pain	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome		169
HP:0002027	HP:0002027	Abdominal pain	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma		169
HP:0002027	HP:0002027	Abdominal pain	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0002027	HP:0002027	Abdominal pain	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0002027	HP:0002027	Abdominal pain	0	CDKN2A CL E G H	1029	1787	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	289
HP:0002027	HP:0002027	Abdominal pain	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	289
HP:0002027	HP:0002027	Abdominal pain	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	CEBPE CL E G H	1053	1836	OMIM:260570	Pelger-Huet-Like anomaly and episodic fever with abdominal pain	.	3
HP:0002027	HP:0002027	Abdominal pain	0	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction	.	25
HP:0002027	HP:0002027	Abdominal pain	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	86
HP:0002027	HP:0002027	Abdominal pain	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional	57
HP:0002027	HP:0002027	Abdominal pain	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1371
HP:0002027	HP:0002027	Abdominal pain	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.	1371
HP:0002027	HP:0002027	Abdominal pain	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	27
HP:0002027	HP:0002027	Abdominal pain	0	CLDN16 CL E G H	10686	2037	OMIM:248250	Hypomagnesemia 3, renal	.	58
HP:0002027	HP:0002027	Abdominal pain	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0002027	HP:0002027	Abdominal pain	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	161
HP:0002027	HP:0002027	Abdominal pain	0	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		678
HP:0002027	HP:0002027	Abdominal pain	0	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis		18
HP:0002027	HP:0002027	Abdominal pain	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	35
HP:0002027	HP:0002027	Abdominal pain	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	5
HP:0002027	HP:0002027	Abdominal pain	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	5
HP:0002027	HP:0002027	Abdominal pain	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria		72
HP:0002027	HP:0002027	Abdominal pain	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040281 - Very frequent	72
HP:0002027	HP:0002027	Abdominal pain	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002027	HP:0002027	Abdominal pain	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	12
HP:0002027	HP:0002027	Abdominal pain	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	10
HP:0002027	HP:0002027	Abdominal pain	0	CTNNB1 CL E G H	1499	2514	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	88
HP:0002027	HP:0002027	Abdominal pain	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040282 - Frequent	88
HP:0002027	HP:0002027	Abdominal pain	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent	88
HP:0002027	HP:0002027	Abdominal pain	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	39
HP:0002027	HP:0002027	Abdominal pain	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.	39
HP:0002027	HP:0002027	Abdominal pain	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002027	HP:0002027	Abdominal pain	0	DDIT3 CL E G H	1649	2726	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0002027	HP:0002027	Abdominal pain	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	164
HP:0002027	HP:0002027	Abdominal pain	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0002027	HP:0002027	Abdominal pain	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0002027	HP:0002027	Abdominal pain	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent	3
HP:0002027	HP:0002027	Abdominal pain	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0002027	HP:0002027	Abdominal pain	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	13
HP:0002027	HP:0002027	Abdominal pain	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	67
HP:0002027	HP:0002027	Abdominal pain	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	67
HP:0002027	HP:0002027	Abdominal pain	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	55
HP:0002027	HP:0002027	Abdominal pain	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	55
HP:0002027	HP:0002027	Abdominal pain	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0002027	HP:0002027	Abdominal pain	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040283 - Occasional	79
HP:0002027	HP:0002027	Abdominal pain	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002027	HP:0002027	Abdominal pain	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	172
HP:0002027	HP:0002027	Abdominal pain	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	4
HP:0002027	HP:0002027	Abdominal pain	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0002027	HP:0002027	Abdominal pain	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	6
HP:0002027	HP:0002027	Abdominal pain	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	51
HP:0002027	HP:0002027	Abdominal pain	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	170
HP:0002027	HP:0002027	Abdominal pain	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040282 - Frequent	43
HP:0002027	HP:0002027	Abdominal pain	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	77
HP:0002027	HP:0002027	Abdominal pain	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	12
HP:0002027	HP:0002027	Abdominal pain	0	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive		12
HP:0002027	HP:0002027	Abdominal pain	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome		13
HP:0002027	HP:0002027	Abdominal pain	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0002027	HP:0002027	Abdominal pain	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	159
HP:0002027	HP:0002027	Abdominal pain	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	15
HP:0002027	HP:0002027	Abdominal pain	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent	59
HP:0002027	HP:0002027	Abdominal pain	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90		1
HP:0002027	HP:0002027	Abdominal pain	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0002027	HP:0002027	Abdominal pain	0	FIP1L1 CL E G H	81608	19124	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0002027	HP:0002027	Abdominal pain	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor		8
HP:0002027	HP:0002027	Abdominal pain	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	11
HP:0002027	HP:0002027	Abdominal pain	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	184
HP:0002027	HP:0002027	Abdominal pain	0	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome	.	50
HP:0002027	HP:0002027	Abdominal pain	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0002027	HP:0002027	Abdominal pain	0	FUS CL E G H	2521	4010	ORPHA:99967	Myxoid/round cell liposarcoma	HP:0040283 - Occasional	105
HP:0002027	HP:0002027	Abdominal pain	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	.	101
HP:0002027	HP:0002027	Abdominal pain	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH		1
HP:0002027	HP:0002027	Abdominal pain	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	59
HP:0002027	HP:0002027	Abdominal pain	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0002027	HP:0002027	Abdominal pain	0	GHSR CL E G H	2693	4267	ORPHA:314811	Short stature due to GHSR deficiency	HP:0040281 - Very frequent	37
HP:0002027	HP:0002027	Abdominal pain	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0002027	HP:0002027	Abdominal pain	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0002027	HP:0002027	Abdominal pain	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040282 - Frequent	16
HP:0002027	HP:0002027	Abdominal pain	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria		173
HP:0002027	HP:0002027	Abdominal pain	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	73
HP:0002027	HP:0002027	Abdominal pain	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6	HP:0040283 - Occasional	12
HP:0002027	HP:0002027	Abdominal pain	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	5
HP:0002027	HP:0002027	Abdominal pain	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	4
HP:0002027	HP:0002027	Abdominal pain	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease		580
HP:0002027	HP:0002027	Abdominal pain	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		580
HP:0002027	HP:0002027	Abdominal pain	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.	580
HP:0002027	HP:0002027	Abdominal pain	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		35
HP:0002027	HP:0002027	Abdominal pain	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		50
HP:0002027	HP:0002027	Abdominal pain	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0002027	HP:0002027	Abdominal pain	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0002027	HP:0002027	Abdominal pain	0	HFE CL E G H	3077	4886	OMIM:176200	Porphyria variegata	.	38
HP:0002027	HP:0002027	Abdominal pain	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent	38
HP:0002027	HP:0002027	Abdominal pain	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent	4
HP:0002027	HP:0002027	Abdominal pain	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0002027	HP:0002027	Abdominal pain	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040282 - Frequent	4
HP:0002027	HP:0002027	Abdominal pain	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	4
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040281 - Very frequent	81
HP:0002027	HP:0002027	Abdominal pain	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0002027	HP:0002027	Abdominal pain	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0002027	HP:0002027	Abdominal pain	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0002027	HP:0002027	Abdominal pain	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent	60
HP:0002027	HP:0002027	Abdominal pain	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	7
HP:0002027	HP:0002027	Abdominal pain	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional	8
HP:0002027	HP:0002027	Abdominal pain	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0002027	HP:0002027	Abdominal pain	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	135
HP:0002027	HP:0002027	Abdominal pain	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	IRF2BP2 CL E G H	359948	21729	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	4
HP:0002027	HP:0002027	Abdominal pain	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent	57
HP:0002027	HP:0002027	Abdominal pain	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	57
HP:0002027	HP:0002027	Abdominal pain	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0002027	HP:0002027	Abdominal pain	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0002027	HP:0002027	Abdominal pain	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma	HP:0040283 - Occasional	327
HP:0002027	HP:0002027	Abdominal pain	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0002027	HP:0002027	Abdominal pain	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome		42
HP:0002027	HP:0002027	Abdominal pain	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	196
HP:0002027	HP:0002027	Abdominal pain	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	196
HP:0002027	HP:0002027	Abdominal pain	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0002027	HP:0002027	Abdominal pain	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	125
HP:0002027	HP:0002027	Abdominal pain	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	59
HP:0002027	HP:0002027	Abdominal pain	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	6
HP:0002027	HP:0002027	Abdominal pain	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0002027	HP:0002027	Abdominal pain	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency		94
HP:0002027	HP:0002027	Abdominal pain	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0002027	HP:0002027	Abdominal pain	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0002027	HP:0002027	Abdominal pain	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent	281
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040281 - Very frequent	281
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0002027	HP:0002027	Abdominal pain	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT		281
HP:0002027	HP:0002027	Abdominal pain	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0002027	HP:0002027	Abdominal pain	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent	375
HP:0002027	HP:0002027	Abdominal pain	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	91
HP:0002027	HP:0002027	Abdominal pain	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1819
HP:0002027	HP:0002027	Abdominal pain	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	131
HP:0002027	HP:0002027	Abdominal pain	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.	80
HP:0002027	HP:0002027	Abdominal pain	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	97
HP:0002027	HP:0002027	Abdominal pain	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency		26
HP:0002027	HP:0002027	Abdominal pain	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2162
HP:0002027	HP:0002027	Abdominal pain	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	2232
HP:0002027	HP:0002027	Abdominal pain	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002027	HP:0002027	Abdominal pain	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent	150
HP:0002027	HP:0002027	Abdominal pain	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional	11
HP:0002027	HP:0002027	Abdominal pain	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	NABP1 CL E G H	64859	26232	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent	13
HP:0002027	HP:0002027	Abdominal pain	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0002027	HP:0002027	Abdominal pain	0	NKX2-5 CL E G H	1482	2488	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	90
HP:0002027	HP:0002027	Abdominal pain	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2		99
HP:0002027	HP:0002027	Abdominal pain	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional	217
HP:0002027	HP:0002027	Abdominal pain	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040282 - Frequent	217
HP:0002027	HP:0002027	Abdominal pain	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency		13
HP:0002027	HP:0002027	Abdominal pain	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0002027	HP:0002027	Abdominal pain	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0002027	HP:0002027	Abdominal pain	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	241
HP:0002027	HP:0002027	Abdominal pain	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	69
HP:0002027	HP:0002027	Abdominal pain	0	NPM1 CL E G H	4869	7910	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0002027	HP:0002027	Abdominal pain	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0002027	HP:0002027	Abdominal pain	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	4
HP:0002027	HP:0002027	Abdominal pain	0	NUMA1 CL E G H	4926	8059	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0002027	HP:0002027	Abdominal pain	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	5
HP:0002027	HP:0002027	Abdominal pain	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0002027	HP:0002027	Abdominal pain	0	OTC CL E G H	5009	8512	OMIM:311250	Ornithine transcarbamylase deficiency, hyperammonemia due to		369
HP:0002027	HP:0002027	Abdominal pain	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0002027	HP:0002027	Abdominal pain	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	1349
HP:0002027	HP:0002027	Abdominal pain	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	192
HP:0002027	HP:0002027	Abdominal pain	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	39
HP:0002027	HP:0002027	Abdominal pain	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0002027	HP:0002027	Abdominal pain	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0002027	HP:0002027	Abdominal pain	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12
HP:0002027	HP:0002027	Abdominal pain	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0002027	HP:0002027	Abdominal pain	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	162
HP:0002027	HP:0002027	Abdominal pain	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002027	HP:0002027	Abdominal pain	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent	563
HP:0002027	HP:0002027	Abdominal pain	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	118
HP:0002027	HP:0002027	Abdominal pain	0	PML CL E G H	5371	9113	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	56
HP:0002027	HP:0002027	Abdominal pain	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	1121
HP:0002027	HP:0002027	Abdominal pain	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0002027	HP:0002027	Abdominal pain	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0002027	HP:0002027	Abdominal pain	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0002027	HP:0002027	Abdominal pain	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	464
HP:0002027	HP:0002027	Abdominal pain	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional	213
HP:0002027	HP:0002027	Abdominal pain	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0002027	HP:0002027	Abdominal pain	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040281 - Very frequent	41
HP:0002027	HP:0002027	Abdominal pain	0	PPOX CL E G H	5498	9280	OMIM:176200	Porphyria variegata	.	41
HP:0002027	HP:0002027	Abdominal pain	0	PRKAR1A CL E G H	5573	9388	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	134
HP:0002027	HP:0002027	Abdominal pain	0	PRKAR1A CL E G H	5573	9388	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	134
HP:0002027	HP:0002027	Abdominal pain	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	63
HP:0002027	HP:0002027	Abdominal pain	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	51
HP:0002027	HP:0002027	Abdominal pain	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.	51
HP:0002027	HP:0002027	Abdominal pain	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.	1
HP:0002027	HP:0002027	Abdominal pain	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0002027	HP:0002027	Abdominal pain	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040282 - Frequent	3
HP:0002027	HP:0002027	Abdominal pain	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome		25
HP:0002027	HP:0002027	Abdominal pain	0	RARA CL E G H	5914	9864	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002027	HP:0002027	Abdominal pain	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	7
HP:0002027	HP:0002027	Abdominal pain	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0002027	HP:0002027	Abdominal pain	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	572
HP:0002027	HP:0002027	Abdominal pain	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0002027	HP:0002027	Abdominal pain	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002027	HP:0002027	Abdominal pain	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0002027	HP:0002027	Abdominal pain	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	125
HP:0002027	HP:0002027	Abdominal pain	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0002027	HP:0002027	Abdominal pain	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040282 - Frequent	77
HP:0002027	HP:0002027	Abdominal pain	0	SCN1B CL E G H	6324	10586	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	126
HP:0002027	HP:0002027	Abdominal pain	0	SCN5A CL E G H	6331	10593	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	1134
HP:0002027	HP:0002027	Abdominal pain	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0002027	HP:0002027	Abdominal pain	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0002027	HP:0002027	Abdominal pain	0	SDHB CL E G H	6390	10681	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	237
HP:0002027	HP:0002027	Abdominal pain	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0002027	HP:0002027	Abdominal pain	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0002027	HP:0002027	Abdominal pain	0	SDHC CL E G H	6391	10682	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	147
HP:0002027	HP:0002027	Abdominal pain	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0002027	HP:0002027	Abdominal pain	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0002027	HP:0002027	Abdominal pain	0	SDHD CL E G H	6392	10683	ORPHA:97286	Carney-Stratakis syndrome	HP:0040282 - Frequent	129
HP:0002027	HP:0002027	Abdominal pain	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0002027	HP:0002027	Abdominal pain	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0002027	HP:0002027	Abdominal pain	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional	137
HP:0002027	HP:0002027	Abdominal pain	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040281 - Very frequent	48
HP:0002027	HP:0002027	Abdominal pain	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0002027	HP:0002027	Abdominal pain	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040281 - Very frequent	64
HP:0002027	HP:0002027	Abdominal pain	0	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency		98
HP:0002027	HP:0002027	Abdominal pain	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital		98
HP:0002027	HP:0002027	Abdominal pain	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome		145
HP:0002027	HP:0002027	Abdominal pain	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040282 - Frequent	145
HP:0002027	HP:0002027	Abdominal pain	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0002027	HP:0002027	Abdominal pain	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0002027	HP:0002027	Abdominal pain	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040282 - Frequent	56
HP:0002027	HP:0002027	Abdominal pain	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0002027	HP:0002027	Abdominal pain	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	109
HP:0002027	HP:0002027	Abdominal pain	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	504
HP:0002027	HP:0002027	Abdominal pain	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0002027	HP:0002027	Abdominal pain	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	22
HP:0002027	HP:0002027	Abdominal pain	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040281 - Very frequent	61
HP:0002027	HP:0002027	Abdominal pain	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040282 - Frequent	61
HP:0002027	HP:0002027	Abdominal pain	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent	34
HP:0002027	HP:0002027	Abdominal pain	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.	34
HP:0002027	HP:0002027	Abdominal pain	0	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.	34
HP:0002027	HP:0002027	Abdominal pain	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0002027	HP:0002027	Abdominal pain	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	228
HP:0002027	HP:0002027	Abdominal pain	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	228
HP:0002027	HP:0002027	Abdominal pain	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare	156
HP:0002027	HP:0002027	Abdominal pain	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional	156
HP:0002027	HP:0002027	Abdominal pain	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002027	HP:0002027	Abdominal pain	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040281 - Very frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0002027	HP:0002027	Abdominal pain	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency		45
HP:0002027	HP:0002027	Abdominal pain	0	STAT3 CL E G H	6774	11364	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	110
HP:0002027	HP:0002027	Abdominal pain	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	STAT5B CL E G H	6777	11367	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	12
HP:0002027	HP:0002027	Abdominal pain	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.	740
HP:0002027	HP:0002027	Abdominal pain	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740
HP:0002027	HP:0002027	Abdominal pain	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional	2
HP:0002027	HP:0002027	Abdominal pain	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002027	HP:0002027	Abdominal pain	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	TBL1XR1 CL E G H	79718	29529	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	22
HP:0002027	HP:0002027	Abdominal pain	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional	241
HP:0002027	HP:0002027	Abdominal pain	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0002027	HP:0002027	Abdominal pain	0	TERT CL E G H	7015	11730	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	238
HP:0002027	HP:0002027	Abdominal pain	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0002027	HP:0002027	Abdominal pain	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent	3
HP:0002027	HP:0002027	Abdominal pain	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0002027	HP:0002027	Abdominal pain	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040281 - Very frequent	253
HP:0002027	HP:0002027	Abdominal pain	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent	3
HP:0002027	HP:0002027	Abdominal pain	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0002027	HP:0002027	Abdominal pain	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0002027	HP:0002027	Abdominal pain	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent	131
HP:0002027	HP:0002027	Abdominal pain	0	TP53 CL E G H	7157	11998	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent	911
HP:0002027	HP:0002027	Abdominal pain	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent	911
HP:0002027	HP:0002027	Abdominal pain	0	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency	.	2
HP:0002027	HP:0002027	Abdominal pain	0	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency		2
HP:0002027	HP:0002027	Abdominal pain	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	2
HP:0002027	HP:0002027	Abdominal pain	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	107
HP:0002027	HP:0002027	Abdominal pain	0	TRPM4 CL E G H	54795	17993	ORPHA:871	Familial progressive cardiac conduction defect	HP:0040282 - Frequent	124
HP:0002027	HP:0002027	Abdominal pain	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	1090
HP:0002027	HP:0002027	Abdominal pain	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040282 - Frequent	2738
HP:0002027	HP:0002027	Abdominal pain	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency		85
HP:0002027	HP:0002027	Abdominal pain	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0002027	HP:0002027	Abdominal pain	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040281 - Very frequent	138
HP:0002027	HP:0002027	Abdominal pain	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0002027	HP:0002027	Abdominal pain	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002027	HP:0002027	Abdominal pain	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0002027	HP:0002027	Abdominal pain	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0002027	HP:0002027	Abdominal pain	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0002027	HP:0002027	Abdominal pain	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040281 - Very frequent
HP:0002027	HP:0002027	Abdominal pain	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent	177
HP:0002027	HP:0002027	Abdominal pain	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040283 - Occasional	177
HP:0002027	HP:0002027	Abdominal pain	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040281 - Very frequent	177
HP:0002027	HP:0002027	Abdominal pain	0	ZBTB16 CL E G H	7704	12930	ORPHA:520	Acute promyelocytic leukemia	HP:0040283 - Occasional	1
HP:0002027	HP:0002027	Abdominal pain	0	ZNRF3 CL E G H	84133	18126	ORPHA:1501	Adrenocortical carcinoma	HP:0040282 - Frequent
HP:0002027	HP:0032546	Abdominal guarding	1	CL E G H
HP:0002027	HP:0033400	Acute abdomen	1	CL E G H
HP:0002027	HP:0011848	Abdominal colic	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040281 - Very frequent	111
HP:0002027	HP:0011848	Abdominal colic	1	ALAD CL E G H	210	395	OMIM:612740	Porphyria, acute hepatic	.	62
HP:0002027	HP:0011848	Abdominal colic	1	APRT CL E G H	353	626	ORPHA:976	Adenine phosphoribosyltransferase deficiency	HP:0040283 - Occasional	19
HP:0002027	HP:0032155	Abdominal cramps	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0002027	HP:0002574	Episodic abdominal pain	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent	169
HP:0002027	HP:0032155	Abdominal cramps	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0002027	HP:0002574	Episodic abdominal pain	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional	169
HP:0002027	HP:0002574	Episodic abdominal pain	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional	169
HP:0002027	HP:0002574	Episodic abdominal pain	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0002027	HP:0410281	Dyspepsia	1	COL4A5 CL E G H	1287	2207	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	678
HP:0002027	HP:0410281	Dyspepsia	1	COL4A6 CL E G H	1288	2208	ORPHA:1018	X-linked Alport syndrome-diffuse leiomyomatosis	HP:0040282 - Frequent	18
HP:0002027	HP:0002574	Episodic abdominal pain	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040282 - Frequent	101
HP:0002027	HP:0002574	Episodic abdominal pain	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0002027	HP:0011848	Abdominal colic	1	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type		9
HP:0002027	HP:0002574	Episodic abdominal pain	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0002027	HP:0002574	Episodic abdominal pain	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0002027	HP:0002574	Episodic abdominal pain	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0002027	HP:0002574	Episodic abdominal pain	1	ERBB3 CL E G H	2065	3431	OMIM:243180	Visceral neuropathy, familial, autosomal recessive	.	12
HP:0002027	HP:0002574	Episodic abdominal pain	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040282 - Frequent	13
HP:0002027	HP:0002574	Episodic abdominal pain	1	F12 CL E G H	2161	3530	OMIM:610618	ANGIOEDEMA, HEREDITARY, TYPE III; HAE3		28
HP:0002027	HP:0002574	Episodic abdominal pain	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0002027	HP:0002574	Episodic abdominal pain	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0002027	HP:0002574	Episodic abdominal pain	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0002027	HP:0002574	Episodic abdominal pain	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0002027	HP:0002574	Episodic abdominal pain	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0002027	HP:0002574	Episodic abdominal pain	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0002027	HP:0002574	Episodic abdominal pain	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0002027	HP:0002574	Episodic abdominal pain	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0002027	HP:0002574	Episodic abdominal pain	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0002027	HP:0002574	Episodic abdominal pain	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0002027	HP:0002574	Episodic abdominal pain	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0002027	HP:0002574	Episodic abdominal pain	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0002027	HP:0002574	Episodic abdominal pain	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0002027	HP:0002574	Episodic abdominal pain	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0002027	HP:0032545	Abdominal rigidity	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0002027	HP:0002574	Episodic abdominal pain	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040283 - Occasional	60
HP:0002027	HP:0032155	Abdominal cramps	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0002027	HP:0002574	Episodic abdominal pain	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0002027	HP:0002574	Episodic abdominal pain	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0002027	HP:0032155	Abdominal cramps	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent	129
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0002027	HP:0002574	Episodic abdominal pain	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0002027	HP:0011848	Abdominal colic	1	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency	HP:0040283 - Occasional	98
HP:0002027	HP:0002574	Episodic abdominal pain	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0002027	HP:0032155	Abdominal cramps	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0002027	HP:0002574	Episodic abdominal pain	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0002027	HP:0032155	Abdominal cramps	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0002027	HP:0002574	Episodic abdominal pain	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0002027	HP:0002574	Episodic abdominal pain	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0002027	HP:0032155	Abdominal cramps	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0002027	HP:0002574	Episodic abdominal pain	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0002027	HP:0002574	Episodic abdominal pain	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490