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:0002014	HP:0002014	Diarrhea	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.	146
HP:0002014	HP:0002014	Diarrhea	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.	111
HP:0002014	HP:0002014	Diarrhea	0	ABCD1 CL E G H	215	61	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	135
HP:0002014	HP:0002014	Diarrhea	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	197
HP:0002014	HP:0002014	Diarrhea	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040282 - Frequent	91
HP:0002014	HP:0002014	Diarrhea	0	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia		68
HP:0002014	HP:0002014	Diarrhea	0	ACSF3 CL E G H	197322	27288	OMIM:614265	Combined malonic and methylmalonic aciduria	.	68
HP:0002014	HP:0002014	Diarrhea	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.	23
HP:0002014	HP:0002014	Diarrhea	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0002014	HP:0002014	Diarrhea	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome		75
HP:0002014	HP:0002014	Diarrhea	0	ADA CL E G H	100	186	ORPHA:277	Severe combined immunodeficiency due to adenosine deaminase deficiency	HP:0040282 - Frequent	75
HP:0002014	HP:0002014	Diarrhea	0	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	.	75
HP:0002014	HP:0002014	Diarrhea	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0002014	HP:0002014	Diarrhea	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease		2
HP:0002014	HP:0002014	Diarrhea	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0002014	HP:0002014	Diarrhea	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1		92
HP:0002014	HP:0002014	Diarrhea	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0002014	HP:0002014	Diarrhea	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.	62
HP:0002014	HP:0002014	Diarrhea	0	ALAD CL E G H	210	395	ORPHA:100924	Porphyria due to ALA dehydratase deficiency	HP:0040283 - Occasional	62
HP:0002014	HP:0002014	Diarrhea	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0002014	HP:0002014	Diarrhea	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040282 - Frequent	73
HP:0002014	HP:0002014	Diarrhea	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG		58
HP:0002014	HP:0002014	Diarrhea	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0002014	HP:0002014	Diarrhea	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0002014	HP:0002014	Diarrhea	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0002014	HP:0002014	Diarrhea	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0002014	HP:0002014	Diarrhea	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0002014	HP:0002014	Diarrhea	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002014	HP:0002014	Diarrhea	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional	2
HP:0002014	HP:0002014	Diarrhea	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0002014	HP:0002014	Diarrhea	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.	49
HP:0002014	HP:0002014	Diarrhea	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis		49
HP:0002014	HP:0002014	Diarrhea	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.	1
HP:0002014	HP:0002014	Diarrhea	0	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0002014	HP:0002014	Diarrhea	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040282 - Frequent	3179
HP:0002014	HP:0002014	Diarrhea	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002014	HP:0002014	Diarrhea	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0002014	HP:0002014	Diarrhea	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0002014	HP:0002014	Diarrhea	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0002014	HP:0002014	Diarrhea	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0002014	HP:0002014	Diarrhea	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002014	HP:0002014	Diarrhea	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	239
HP:0002014	HP:0002014	Diarrhea	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	150
HP:0002014	HP:0002014	Diarrhea	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0002014	HP:0002014	Diarrhea	0	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002014	HP:0002014	Diarrhea	0	ATP7A CL E G H	538	869	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	192
HP:0002014	HP:0002014	Diarrhea	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0002014	HP:0002014	Diarrhea	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.	144
HP:0002014	HP:0002014	Diarrhea	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach		169
HP:0002014	HP:0002014	Diarrhea	0	AVP CL E G H	551	894	ORPHA:30925	Hereditary central diabetes insipidus	HP:0040282 - Frequent	22
HP:0002014	HP:0002014	Diarrhea	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002014	HP:0002014	Diarrhea	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002014	HP:0002014	Diarrhea	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	4
HP:0002014	HP:0002014	Diarrhea	0	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0002014	HP:0002014	Diarrhea	0	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0002014	HP:0002014	Diarrhea	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040281 - Very frequent	385
HP:0002014	HP:0002014	Diarrhea	0	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0002014	HP:0002014	Diarrhea	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma		5769
HP:0002014	HP:0002014	Diarrhea	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma		7642
HP:0002014	HP:0002014	Diarrhea	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.	223
HP:0002014	HP:0002014	Diarrhea	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0002014	HP:0002014	Diarrhea	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109
HP:0002014	HP:0002014	Diarrhea	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia		109
HP:0002014	HP:0002014	Diarrhea	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002014	HP:0002014	Diarrhea	0	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency		16
HP:0002014	HP:0002014	Diarrhea	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	449
HP:0002014	HP:0002014	Diarrhea	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002014	HP:0002014	Diarrhea	0	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002014	HP:0002014	Diarrhea	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0002014	HP:0002014	Diarrhea	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0002014	HP:0002014	Diarrhea	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0002014	HP:0002014	Diarrhea	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002014	HP:0002014	Diarrhea	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0002014	HP:0002014	Diarrhea	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.	38
HP:0002014	HP:0002014	Diarrhea	0	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002014	HP:0002014	Diarrhea	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002014	HP:0002014	Diarrhea	0	CD3D CL E G H	915	1673	OMIM:615617	Immunodeficiency 19	.	18
HP:0002014	HP:0002014	Diarrhea	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002014	HP:0002014	Diarrhea	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002014	HP:0002014	Diarrhea	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002014	HP:0002014	Diarrhea	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM		33
HP:0002014	HP:0002014	Diarrhea	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0002014	HP:0002014	Diarrhea	0	CD79A CL E G H	973	1698	OMIM:613501	Agammaglobulinemia 3, autosomal recessive	.	9
HP:0002014	HP:0002014	Diarrhea	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	9
HP:0002014	HP:0002014	Diarrhea	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.	6
HP:0002014	HP:0002014	Diarrhea	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	6
HP:0002014	HP:0002014	Diarrhea	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	2
HP:0002014	HP:0002014	Diarrhea	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	102
HP:0002014	HP:0002014	Diarrhea	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent	102
HP:0002014	HP:0002014	Diarrhea	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma		289
HP:0002014	HP:0002014	Diarrhea	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	1
HP:0002014	HP:0002014	Diarrhea	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0002014	HP:0002014	Diarrhea	0	CFH CL E G H	3075	4883	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.	86
HP:0002014	HP:0002014	Diarrhea	0	CFHR1 CL E G H	3078	4888	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0002014	HP:0002014	Diarrhea	0	CFHR3 CL E G H	10878	16980	OMIM:235400	Hemolytic uremic syndrome, atypical, susceptibility to, 1	.
HP:0002014	HP:0002014	Diarrhea	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0002014	HP:0002014	Diarrhea	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome		515
HP:0002014	HP:0002014	Diarrhea	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II		118
HP:0002014	HP:0002014	Diarrhea	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0002014	HP:0002014	Diarrhea	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0002014	HP:0002014	Diarrhea	0	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome		7
HP:0002014	HP:0002014	Diarrhea	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	38
HP:0002014	HP:0002014	Diarrhea	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG		67
HP:0002014	HP:0002014	Diarrhea	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj		67
HP:0002014	HP:0002014	Diarrhea	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0002014	HP:0002014	Diarrhea	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0002014	HP:0002014	Diarrhea	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.	72
HP:0002014	HP:0002014	Diarrhea	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.	99
HP:0002014	HP:0002014	Diarrhea	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0002014	HP:0002014	Diarrhea	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.	10
HP:0002014	HP:0002014	Diarrhea	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0002014	HP:0002014	Diarrhea	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5		10
HP:0002014	HP:0002014	Diarrhea	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis		114
HP:0002014	HP:0002014	Diarrhea	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0002014	HP:0002014	Diarrhea	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.	57
HP:0002014	HP:0002014	Diarrhea	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002014	HP:0002014	Diarrhea	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional	80
HP:0002014	HP:0002014	Diarrhea	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome		94
HP:0002014	HP:0002014	Diarrhea	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.	94
HP:0002014	HP:0002014	Diarrhea	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation	.	94
HP:0002014	HP:0002014	Diarrhea	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency		43
HP:0002014	HP:0002014	Diarrhea	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002014	HP:0002014	Diarrhea	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1	.	263
HP:0002014	HP:0002014	Diarrhea	0	DGAT1 CL E G H	8694	2843	OMIM:615863	Diarrhea 7, protein-losing Enteropathy type	.	9
HP:0002014	HP:0002014	Diarrhea	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0002014	HP:0002014	Diarrhea	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002014	HP:0002014	Diarrhea	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0002014	HP:0002014	Diarrhea	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002014	HP:0002014	Diarrhea	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0002014	HP:0002014	Diarrhea	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002014	HP:0002014	Diarrhea	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im		55
HP:0002014	HP:0002014	Diarrhea	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0002014	HP:0002014	Diarrhea	0	ECE1 CL E G H	1889	3146	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	13
HP:0002014	HP:0002014	Diarrhea	0	EDN3 CL E G H	1908	3178	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	67
HP:0002014	HP:0002014	Diarrhea	0	EDNRB CL E G H	1910	3180	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	55
HP:0002014	HP:0002014	Diarrhea	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.	1
HP:0002014	HP:0002014	Diarrhea	0	EGFR CL E G H	1956	3236	OMIM:616069	Inflammatory skin and bowel disease, neonatal, 2	.	257
HP:0002014	HP:0002014	Diarrhea	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease		257
HP:0002014	HP:0002014	Diarrhea	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	79
HP:0002014	HP:0002014	Diarrhea	0	ELF4 CL E G H	2000	3319	OMIM:301074	AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2		1
HP:0002014	HP:0002014	Diarrhea	0	ELP1 CL E G H	8518	5959	OMIM:223900	Neuropathy, hereditary sensory and autonomic, type III	.	133
HP:0002014	HP:0002014	Diarrhea	0	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0002014	HP:0002014	Diarrhea	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002014	HP:0002014	Diarrhea	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy		170
HP:0002014	HP:0002014	Diarrhea	0	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital		170
HP:0002014	HP:0002014	Diarrhea	0	ERBB2 CL E G H	2064	3430	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	77
HP:0002014	HP:0002014	Diarrhea	0	ERBB3 CL E G H	2065	3431	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	12
HP:0002014	HP:0002014	Diarrhea	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive		106
HP:0002014	HP:0002014	Diarrhea	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	158
HP:0002014	HP:0002014	Diarrhea	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	199
HP:0002014	HP:0002014	Diarrhea	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent	55
HP:0002014	HP:0002014	Diarrhea	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0002014	HP:0002014	Diarrhea	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0002014	HP:0002014	Diarrhea	0	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency		159
HP:0002014	HP:0002014	Diarrhea	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002014	HP:0002014	Diarrhea	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040282 - Frequent	64
HP:0002014	HP:0002014	Diarrhea	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0002014	HP:0002014	Diarrhea	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002014	HP:0002014	Diarrhea	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0002014	HP:0002014	Diarrhea	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		32
HP:0002014	HP:0002014	Diarrhea	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0002014	HP:0002014	Diarrhea	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002014	HP:0002014	Diarrhea	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional	351
HP:0002014	HP:0002014	Diarrhea	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.	351
HP:0002014	HP:0002014	Diarrhea	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0002014	HP:0002014	Diarrhea	0	GDNF CL E G H	2668	4232	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	59
HP:0002014	HP:0002014	Diarrhea	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	56
HP:0002014	HP:0002014	Diarrhea	0	GINS1 CL E G H	9837	28980	OMIM:617827	Immunodeficiency 55	.
HP:0002014	HP:0002014	Diarrhea	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0002014	HP:0002014	Diarrhea	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0002014	HP:0002014	Diarrhea	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0002014	HP:0002014	Diarrhea	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0002014	HP:0002014	Diarrhea	0	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0002014	HP:0002014	Diarrhea	0	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6	.	12
HP:0002014	HP:0002014	Diarrhea	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0002014	HP:0002014	Diarrhea	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0002014	HP:0002014	Diarrhea	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0002014	HP:0002014	Diarrhea	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002014	HP:0002014	Diarrhea	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0002014	HP:0002014	Diarrhea	0	HEXB CL E G H	3074	4879	ORPHA:309162	Sandhoff disease, juvenile form		80
HP:0002014	HP:0002014	Diarrhea	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0002014	HP:0002014	Diarrhea	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent	4
HP:0002014	HP:0002014	Diarrhea	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	4
HP:0002014	HP:0002014	Diarrhea	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002014	HP:0002014	Diarrhea	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0002014	HP:0002014	Diarrhea	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional	81
HP:0002014	HP:0002014	Diarrhea	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.	81
HP:0002014	HP:0002014	Diarrhea	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional	35
HP:0002014	HP:0002014	Diarrhea	0	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency	.	42
HP:0002014	HP:0002014	Diarrhea	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent	138
HP:0002014	HP:0002014	Diarrhea	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0002014	HP:0002014	Diarrhea	0	HS3ST6 CL E G H	64711	14178	OMIM:619367	ANGIOEDEMA, HEREDITARY, 8; HAE8
HP:0002014	HP:0002014	Diarrhea	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.	26
HP:0002014	HP:0002014	Diarrhea	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	39
HP:0002014	HP:0002014	Diarrhea	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0002014	HP:0002014	Diarrhea	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.	32
HP:0002014	HP:0002014	Diarrhea	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002014	HP:0002014	Diarrhea	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form		86
HP:0002014	HP:0002014	Diarrhea	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form		86
HP:0002014	HP:0002014	Diarrhea	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.	86
HP:0002014	HP:0002014	Diarrhea	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome		115
HP:0002014	HP:0002014	Diarrhea	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002014	HP:0002014	Diarrhea	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0002014	HP:0002014	Diarrhea	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0002014	HP:0002014	Diarrhea	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.	7
HP:0002014	HP:0002014	Diarrhea	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	7
HP:0002014	HP:0002014	Diarrhea	0	IGKC CL E G H	3514	5716	OMIM:614102	Immunoglobulin kappa light chain deficiency	HP:0040283 - Occasional	5
HP:0002014	HP:0002014	Diarrhea	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0002014	HP:0002014	Diarrhea	0	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15		4
HP:0002014	HP:0002014	Diarrhea	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040281 - Very frequent	8
HP:0002014	HP:0002014	Diarrhea	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002014	HP:0002014	Diarrhea	0	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002014	HP:0002014	Diarrhea	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002014	HP:0002014	Diarrhea	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002014	HP:0002014	Diarrhea	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0002014	HP:0002014	Diarrhea	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome		48
HP:0002014	HP:0002014	Diarrhea	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked		48
HP:0002014	HP:0002014	Diarrhea	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	HP:0040282 - Frequent	48
HP:0002014	HP:0002014	Diarrhea	0	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0002014	HP:0002014	Diarrhea	0	IL6 CL E G H	3569	6018	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	2
HP:0002014	HP:0002014	Diarrhea	0	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002014	HP:0002014	Diarrhea	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome		94
HP:0002014	HP:0002014	Diarrhea	0	IL7R CL E G H	3575	6024	OMIM:608971	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	.	94
HP:0002014	HP:0002014	Diarrhea	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency		94
HP:0002014	HP:0002014	Diarrhea	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002014	HP:0002014	Diarrhea	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0002014	HP:0002014	Diarrhea	0	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002014	HP:0002014	Diarrhea	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040281 - Very frequent	1
HP:0002014	HP:0002014	Diarrhea	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0002014	HP:0002014	Diarrhea	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0002014	HP:0002014	Diarrhea	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0002014	HP:0002014	Diarrhea	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0002014	HP:0002014	Diarrhea	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0002014	HP:0002014	Diarrhea	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		124
HP:0002014	HP:0002014	Diarrhea	0	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002014	HP:0002014	Diarrhea	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency		140
HP:0002014	HP:0002014	Diarrhea	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.	51
HP:0002014	HP:0002014	Diarrhea	0	KIF1B CL E G H	23095	16636	OMIM:256700	Neuroblastoma, susceptibility to	.	202
HP:0002014	HP:0002014	Diarrhea	0	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0002014	HP:0002014	Diarrhea	0	KIT CL E G H	3815	6342	ORPHA:79455	Cutaneous mastocytoma		327
HP:0002014	HP:0002014	Diarrhea	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0002014	HP:0002014	Diarrhea	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0002014	HP:0002014	Diarrhea	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040283 - Occasional	1
HP:0002014	HP:0002014	Diarrhea	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma		196
HP:0002014	HP:0002014	Diarrhea	0	LCK CL E G H	3932	6524	OMIM:615758	Immunodeficiency 22	.	1
HP:0002014	HP:0002014	Diarrhea	0	LCT CL E G H	3938	6530	OMIM:223000	Lactase deficiency, congenital	.	72
HP:0002014	HP:0002014	Diarrhea	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0002014	HP:0002014	Diarrhea	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome		88
HP:0002014	HP:0002014	Diarrhea	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome		88
HP:0002014	HP:0002014	Diarrhea	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent	73
HP:0002014	HP:0002014	Diarrhea	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0002014	HP:0002014	Diarrhea	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002014	HP:0002014	Diarrhea	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	3
HP:0002014	HP:0002014	Diarrhea	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0002014	HP:0002014	Diarrhea	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0002014	HP:0002014	Diarrhea	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0002014	HP:0002014	Diarrhea	0	MAOA CL E G H	4128	6833	OMIM:300615	Brunner syndrome	HP:0040284 - Very rare	22
HP:0002014	HP:0002014	Diarrhea	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	94
HP:0002014	HP:0002014	Diarrhea	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002014	HP:0002014	Diarrhea	0	MCM6 CL E G H	4175	6949	OMIM:223100	LACTOSE INTOLERANCE, ADULT TYPE		5
HP:0002014	HP:0002014	Diarrhea	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040282 - Frequent	281
HP:0002014	HP:0002014	Diarrhea	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR		281
HP:0002014	HP:0002014	Diarrhea	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.	462
HP:0002014	HP:0002014	Diarrhea	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent	462
HP:0002014	HP:0002014	Diarrhea	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	HP:0040283 - Occasional	11
HP:0002014	HP:0002014	Diarrhea	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040284 - Very rare	11
HP:0002014	HP:0002014	Diarrhea	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency	.	80
HP:0002014	HP:0002014	Diarrhea	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.	51
HP:0002014	HP:0002014	Diarrhea	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent	51
HP:0002014	HP:0002014	Diarrhea	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0002014	HP:0002014	Diarrhea	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	26
HP:0002014	HP:0002014	Diarrhea	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia		81
HP:0002014	HP:0002014	Diarrhea	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002014	HP:0002014	Diarrhea	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040282 - Frequent	150
HP:0002014	HP:0002014	Diarrhea	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0002014	HP:0002014	Diarrhea	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0002014	HP:0002014	Diarrhea	0	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy		192
HP:0002014	HP:0002014	Diarrhea	0	MYO5B CL E G H	4645	7603	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	192
HP:0002014	HP:0002014	Diarrhea	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0002014	HP:0002014	Diarrhea	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0002014	HP:0002014	Diarrhea	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare	36
HP:0002014	HP:0002014	Diarrhea	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	.
HP:0002014	HP:0002014	Diarrhea	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0002014	HP:0002014	Diarrhea	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome		706
HP:0002014	HP:0002014	Diarrhea	0	NCF4 CL E G H	4689	7662	OMIM:613960	Chronic granulomatous disease 3, autosomal recessive	.	37
HP:0002014	HP:0002014	Diarrhea	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	NEUROG3 CL E G H	50674	13806	OMIM:610370	Diarrhea 4, malabsorptive, congenital	.	5
HP:0002014	HP:0002014	Diarrhea	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040281 - Very frequent	5
HP:0002014	HP:0002014	Diarrhea	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002014	HP:0002014	Diarrhea	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002014	HP:0002014	Diarrhea	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	13
HP:0002014	HP:0002014	Diarrhea	0	NOD2 CL E G H	64127	5331	OMIM:266600	Inflammatory bowel disease 1, Crohn disease	.	187
HP:0002014	HP:0002014	Diarrhea	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0002014	HP:0002014	Diarrhea	0	NR3C2 CL E G H	4306	7979	OMIM:177735	Pseudohypoaldosteronism, type I, autosomal dominant	.	109
HP:0002014	HP:0002014	Diarrhea	0	NRTN CL E G H	4902	8007	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	4
HP:0002014	HP:0002014	Diarrhea	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome		84
HP:0002014	HP:0002014	Diarrhea	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0002014	HP:0002014	Diarrhea	0	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0002014	HP:0002014	Diarrhea	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma		1349
HP:0002014	HP:0002014	Diarrhea	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma		192
HP:0002014	HP:0002014	Diarrhea	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	23
HP:0002014	HP:0002014	Diarrhea	0	PCSK1 CL E G H	5122	8743	OMIM:600955	Proprotein convertase 1/3 deficiency	.	65
HP:0002014	HP:0002014	Diarrhea	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0002014	HP:0002014	Diarrhea	0	PERCC1 CL E G H	105371045	52293	OMIM:618662	DIARRHEA 11, MALABSORPTIVE, CONGENITAL; DIAR11
HP:0002014	HP:0002014	Diarrhea	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002014	HP:0002014	Diarrhea	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	54
HP:0002014	HP:0002014	Diarrhea	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency		101
HP:0002014	HP:0002014	Diarrhea	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.	101
HP:0002014	HP:0002014	Diarrhea	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare	48
HP:0002014	HP:0002014	Diarrhea	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		11
HP:0002014	HP:0002014	Diarrhea	0	PIGT CL E G H	51604	14938	OMIM:615399	Paroxysmal nocturnal hemoglobinuria 2	.	12
HP:0002014	HP:0002014	Diarrhea	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040283 - Occasional	9
HP:0002014	HP:0002014	Diarrhea	0	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002014	HP:0002014	Diarrhea	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0002014	HP:0002014	Diarrhea	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	43
HP:0002014	HP:0002014	Diarrhea	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36		43
HP:0002014	HP:0002014	Diarrhea	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	55
HP:0002014	HP:0002014	Diarrhea	0	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome		107
HP:0002014	HP:0002014	Diarrhea	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia		759
HP:0002014	HP:0002014	Diarrhea	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0002014	HP:0002014	Diarrhea	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0002014	HP:0002014	Diarrhea	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	6
HP:0002014	HP:0002014	Diarrhea	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002014	HP:0002014	Diarrhea	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0002014	HP:0002014	Diarrhea	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0002014	HP:0002014	Diarrhea	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0002014	HP:0002014	Diarrhea	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35		10
HP:0002014	HP:0002014	Diarrhea	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	138
HP:0002014	HP:0002014	Diarrhea	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040281 - Very frequent	948
HP:0002014	HP:0002014	Diarrhea	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002014	HP:0002014	Diarrhea	0	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0002014	HP:0002014	Diarrhea	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.	127
HP:0002014	HP:0002014	Diarrhea	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome		127
HP:0002014	HP:0002014	Diarrhea	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		127
HP:0002014	HP:0002014	Diarrhea	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	127
HP:0002014	HP:0002014	Diarrhea	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome		50
HP:0002014	HP:0002014	Diarrhea	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.	50
HP:0002014	HP:0002014	Diarrhea	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency		50
HP:0002014	HP:0002014	Diarrhea	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.	50
HP:0002014	HP:0002014	Diarrhea	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002014	HP:0002014	Diarrhea	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0002014	HP:0002014	Diarrhea	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0002014	HP:0002014	Diarrhea	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002014	HP:0002014	Diarrhea	0	RET CL E G H	5979	9967	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	572
HP:0002014	HP:0002014	Diarrhea	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0002014	HP:0002014	Diarrhea	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II		38
HP:0002014	HP:0002014	Diarrhea	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0002014	HP:0002014	Diarrhea	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.	28
HP:0002014	HP:0002014	Diarrhea	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II		26
HP:0002014	HP:0002014	Diarrhea	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0002014	HP:0002014	Diarrhea	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II		34
HP:0002014	HP:0002014	Diarrhea	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0002014	HP:0002014	Diarrhea	0	RIPK1 CL E G H	8737	10019	OMIM:618108	IMMUNODEFICIENCY 57; IMD57
HP:0002014	HP:0002014	Diarrhea	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome		37
HP:0002014	HP:0002014	Diarrhea	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002014	HP:0002014	Diarrhea	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional	7
HP:0002014	HP:0002014	Diarrhea	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0002014	HP:0002014	Diarrhea	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0002014	HP:0002014	Diarrhea	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0002014	HP:0002014	Diarrhea	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis		2
HP:0002014	HP:0002014	Diarrhea	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome		8
HP:0002014	HP:0002014	Diarrhea	0	SAR1B CL E G H	51128	10535	OMIM:246700	Chylomicron retention disease		8
HP:0002014	HP:0002014	Diarrhea	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040280 - Obligate	8
HP:0002014	HP:0002014	Diarrhea	0	SCN11A CL E G H	11280	10583	OMIM:615548	Neuropathy, hereditary sensory and autonomic, type VII	.	19
HP:0002014	HP:0002014	Diarrhea	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0002014	HP:0002014	Diarrhea	0	SCNN1A CL E G H	6337	10599	OMIM:264350	Pseudohypoaldosteronism, type I, autosomal recessive	.	67
HP:0002014	HP:0002014	Diarrhea	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome		129
HP:0002014	HP:0002014	Diarrhea	0	SEMA3C CL E G H	10512	10725	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0002014	HP:0002014	Diarrhea	0	SEMA3D CL E G H	223117	10726	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	2
HP:0002014	HP:0002014	Diarrhea	0	SERPING1 CL E G H	710	1228	OMIM:106100	Angioedema, hereditary, 1	.	64
HP:0002014	HP:0002014	Diarrhea	0	SERPING1 CL E G H	710	1228	ORPHA:100050	Hereditary angioedema type 1	HP:0040282 - Frequent	64
HP:0002014	HP:0002014	Diarrhea	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97
HP:0002014	HP:0002014	Diarrhea	0	SI CL E G H	6476	10856	ORPHA:35122	Congenital sucrase-isomaltase deficiency	HP:0040281 - Very frequent	98
HP:0002014	HP:0002014	Diarrhea	0	SI CL E G H	6476	10856	OMIM:222900	Sucrase-isomaltase deficiency, congenital		98
HP:0002014	HP:0002014	Diarrhea	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002014	HP:0002014	Diarrhea	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0002014	HP:0002014	Diarrhea	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002014	HP:0002014	Diarrhea	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002014	HP:0002014	Diarrhea	0	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0002014	HP:0002014	Diarrhea	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.	75
HP:0002014	HP:0002014	Diarrhea	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0002014	HP:0002014	Diarrhea	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040281 - Very frequent	55
HP:0002014	HP:0002014	Diarrhea	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040282 - Frequent	63
HP:0002014	HP:0002014	Diarrhea	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0002014	HP:0002014	Diarrhea	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional	82
HP:0002014	HP:0002014	Diarrhea	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0002014	HP:0002014	Diarrhea	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.	89
HP:0002014	HP:0002014	Diarrhea	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II		71
HP:0002014	HP:0002014	Diarrhea	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0002014	HP:0002014	Diarrhea	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica		55
HP:0002014	HP:0002014	Diarrhea	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.	55
HP:0002014	HP:0002014	Diarrhea	0	SLC46A1 CL E G H	113235	30521	OMIM:229050	Folate malabsorption, hereditary	.	101
HP:0002014	HP:0002014	Diarrhea	0	SLC46A1 CL E G H	113235	30521	ORPHA:90045	Hereditary folate malabsorption	HP:0040281 - Very frequent	101
HP:0002014	HP:0002014	Diarrhea	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002014	HP:0002014	Diarrhea	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002014	HP:0002014	Diarrhea	0	SLC5A1 CL E G H	6523	11036	ORPHA:35710	Glucose-galactose malabsorption	HP:0040281 - Very frequent	74
HP:0002014	HP:0002014	Diarrhea	0	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption		74
HP:0002014	HP:0002014	Diarrhea	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0002014	HP:0002014	Diarrhea	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0002014	HP:0002014	Diarrhea	0	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital		7
HP:0002014	HP:0002014	Diarrhea	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0002014	HP:0002014	Diarrhea	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0002014	HP:0002014	Diarrhea	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma		504
HP:0002014	HP:0002014	Diarrhea	0	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0002014	HP:0002014	Diarrhea	0	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0002014	HP:0002014	Diarrhea	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0002014	HP:0002014	Diarrhea	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002014	HP:0002014	Diarrhea	0	SMO CL E G H	6608	11119	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	22
HP:0002014	HP:0002014	Diarrhea	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0002014	HP:0002014	Diarrhea	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0002014	HP:0002014	Diarrhea	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002014	HP:0002014	Diarrhea	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0002014	HP:0002014	Diarrhea	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies		6
HP:0002014	HP:0002014	Diarrhea	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare
HP:0002014	HP:0002014	Diarrhea	0	SREBF1 CL E G H	6720	11289	ORPHA:388	Hirschsprung disease	HP:0040283 - Occasional	1
HP:0002014	HP:0002014	Diarrhea	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0002014	HP:0002014	Diarrhea	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent
HP:0002014	HP:0002014	Diarrhea	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0002014	HP:0002014	Diarrhea	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0002014	HP:0002014	Diarrhea	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	45
HP:0002014	HP:0002014	Diarrhea	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0002014	HP:0002014	Diarrhea	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional	89
HP:0002014	HP:0002014	Diarrhea	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040284 - Very rare	2
HP:0002014	HP:0002014	Diarrhea	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0002014	HP:0002014	Diarrhea	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0002014	HP:0002014	Diarrhea	0	STX3 CL E G H	6809	11438	ORPHA:2290	Microvillus inclusion disease	HP:0040282 - Frequent	1
HP:0002014	HP:0002014	Diarrhea	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0002014	HP:0002014	Diarrhea	0	SUGCT CL E G H	79783	16001	OMIM:231690	Glutaric aciduria III	.	8
HP:0002014	HP:0002014	Diarrhea	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002014	HP:0002014	Diarrhea	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	9
HP:0002014	HP:0002014	Diarrhea	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002014	HP:0002014	Diarrhea	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002014	HP:0002014	Diarrhea	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent	2
HP:0002014	HP:0002014	Diarrhea	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040282 - Frequent	82
HP:0002014	HP:0002014	Diarrhea	0	TCN2 CL E G H	6948	11653	OMIM:275350	Transcobalamin II deficiency	.	57
HP:0002014	HP:0002014	Diarrhea	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2		238
HP:0002014	HP:0002014	Diarrhea	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0002014	HP:0002014	Diarrhea	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0002014	HP:0002014	Diarrhea	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002014	HP:0002014	Diarrhea	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0002014	HP:0002014	Diarrhea	0	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002014	HP:0002014	Diarrhea	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002014	HP:0002014	Diarrhea	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57	.	1
HP:0002014	HP:0002014	Diarrhea	0	TMPRSS15 CL E G H	5651	9490	OMIM:226200	Enterokinase deficiency	.	5
HP:0002014	HP:0002014	Diarrhea	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.	32
HP:0002014	HP:0002014	Diarrhea	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.	12
HP:0002014	HP:0002014	Diarrhea	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0002014	HP:0002014	Diarrhea	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent	131
HP:0002014	HP:0002014	Diarrhea	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0002014	HP:0002014	Diarrhea	0	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002014	HP:0002014	Diarrhea	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma		911
HP:0002014	HP:0002014	Diarrhea	0	TREH CL E G H	11181	12266	OMIM:612119	Trehalase deficiency	.	2
HP:0002014	HP:0002014	Diarrhea	0	TREH CL E G H	11181	12266	ORPHA:103909	Trehalase deficiency		2
HP:0002014	HP:0002014	Diarrhea	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002014	HP:0002014	Diarrhea	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040281 - Very frequent	97
HP:0002014	HP:0002014	Diarrhea	0	TSHR CL E G H	7253	12373	ORPHA:424	Familial hyperthyroidism due to mutations in TSH receptor	HP:0040281 - Very frequent	97
HP:0002014	HP:0002014	Diarrhea	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum		26
HP:0002014	HP:0002014	Diarrhea	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002014	HP:0002014	Diarrhea	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0002014	HP:0002014	Diarrhea	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent	107
HP:0002014	HP:0002014	Diarrhea	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040282 - Frequent	85
HP:0002014	HP:0002014	Diarrhea	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0002014	HP:0002014	Diarrhea	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0002014	HP:0002014	Diarrhea	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	21
HP:0002014	HP:0002014	Diarrhea	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002014	HP:0002014	Diarrhea	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome		2
HP:0002014	HP:0002014	Diarrhea	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0002014	HP:0002014	Diarrhea	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0002014	HP:0002014	Diarrhea	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002014	HP:0002014	Diarrhea	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002014	HP:0002014	Diarrhea	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0002014	HP:0002014	Diarrhea	0	WNT2B CL E G H	7482	12781	OMIM:618168	Diarrhea 9		1
HP:0002014	HP:0002014	Diarrhea	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency		46
HP:0002014	HP:0002014	Diarrhea	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.	46
HP:0002014	HP:0002014	Diarrhea	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002014	HP:0002014	Diarrhea	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002014	HP:0033310	Osmotic diarrhea	1	CL E G H
HP:0002014	HP:0002254	Intermittent diarrhea	1	ACSF3 CL E G H	197322	27288	ORPHA:289504	Combined malonic and methylmalonic acidemia	HP:0040283 - Occasional	68
HP:0002014	HP:0025085	Bloody diarrhea	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2		178
HP:0002014	HP:0002028	Chronic diarrhea	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	75
HP:0002014	HP:0002028	Chronic diarrhea	1	ADA CL E G H	100	186	OMIM:102700	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency		75
HP:0002014	HP:0025085	Bloody diarrhea	1	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1		2
HP:0002014	HP:0025085	Bloody diarrhea	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0002014	HP:0002028	Chronic diarrhea	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent	58
HP:0002014	HP:0025085	Bloody diarrhea	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002014	HP:0002028	Chronic diarrhea	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0002014	HP:0025085	Bloody diarrhea	1	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0002014	HP:0025085	Bloody diarrhea	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0002014	HP:0025085	Bloody diarrhea	1	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002014	HP:0002028	Chronic diarrhea	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0002014	HP:0002028	Chronic diarrhea	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA		3267
HP:0002014	HP:0002028	Chronic diarrhea	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47		5
HP:0002014	HP:0002254	Intermittent diarrhea	1	ATP6V0A1 CL E G H	535	865	OMIM:619971			1
HP:0002014	HP:0002028	Chronic diarrhea	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0002014	HP:0025085	Bloody diarrhea	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0002014	HP:0004385	Protracted diarrhea	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare	169
HP:0002014	HP:0002254	Intermittent diarrhea	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent	169
HP:0002014	HP:0002028	Chronic diarrhea	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002014	HP:0025085	Bloody diarrhea	1	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		385
HP:0002014	HP:0025085	Bloody diarrhea	1	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome		385
HP:0002014	HP:0025085	Bloody diarrhea	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy		385
HP:0002014	HP:0025085	Bloody diarrhea	1	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0002014	HP:0002254	Intermittent diarrhea	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0002014	HP:0002254	Intermittent diarrhea	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0002014	HP:0002028	Chronic diarrhea	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked		109
HP:0002014	HP:0002028	Chronic diarrhea	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent	109
HP:0002014	HP:0002028	Chronic diarrhea	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency		1
HP:0002014	HP:0002041	Intractable diarrhea	1	C5 CL E G H	727	1331	OMIM:609536	C5 deficiency	.	16
HP:0002014	HP:0025085	Bloody diarrhea	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002014	HP:0002028	Chronic diarrhea	1	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30		1
HP:0002014	HP:0002028	Chronic diarrhea	1	CARMIL2 CL E G H	146206	27089	OMIM:618131	IMMUNODEFICIENCY 58; IMD58		3
HP:0002014	HP:0002028	Chronic diarrhea	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY		37
HP:0002014	HP:0002028	Chronic diarrhea	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002014	HP:0025085	Bloody diarrhea	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0002014	HP:0004385	Protracted diarrhea	1	CD247 CL E G H	919	1677	OMIM:610163	IMMUNODEFICIENCY 25; IMD25		8
HP:0002014	HP:0004385	Protracted diarrhea	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0002014	HP:0004385	Protracted diarrhea	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0002014	HP:0004385	Protracted diarrhea	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0002014	HP:0002028	Chronic diarrhea	1	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17		19
HP:0002014	HP:0025085	Bloody diarrhea	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1		2
HP:0002014	HP:0025085	Bloody diarrhea	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1		102
HP:0002014	HP:0002254	Intermittent diarrhea	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0002014	HP:0025085	Bloody diarrhea	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1		1
HP:0002014	HP:0025085	Bloody diarrhea	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002014	HP:0002028	Chronic diarrhea	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	515
HP:0002014	HP:0004385	Protracted diarrhea	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.	118
HP:0002014	HP:0004385	Protracted diarrhea	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	118
HP:0002014	HP:0002028	Chronic diarrhea	1	CLMP CL E G H	79827	24039	OMIM:615237	Congenital short bowel syndrome	.	7
HP:0002014	HP:0002254	Intermittent diarrhea	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0002014	HP:0002028	Chronic diarrhea	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional	67
HP:0002014	HP:0002028	Chronic diarrhea	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0002014	HP:0002028	Chronic diarrhea	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7		10
HP:0002014	HP:0002028	Chronic diarrhea	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0002014	HP:0025085	Bloody diarrhea	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002014	HP:0025085	Bloody diarrhea	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002014	HP:0004385	Protracted diarrhea	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0002014	HP:0002254	Intermittent diarrhea	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040282 - Frequent
HP:0002014	HP:0002028	Chronic diarrhea	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0002014	HP:0002028	Chronic diarrhea	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation		94
HP:0002014	HP:0005208	Secretory diarrhea	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002014	HP:0002028	Chronic diarrhea	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002014	HP:0002028	Chronic diarrhea	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002014	HP:0002254	Intermittent diarrhea	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40		6
HP:0002014	HP:0025085	Bloody diarrhea	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0002014	HP:0025085	Bloody diarrhea	1	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		186
HP:0002014	HP:0025085	Bloody diarrhea	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002014	HP:0002028	Chronic diarrhea	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent	170
HP:0002014	HP:0005208	Secretory diarrhea	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent	170
HP:0002014	HP:0002041	Intractable diarrhea	1	EPCAM CL E G H	4072	11529	OMIM:613217	Diarrhea 5, with tufting enteropathy, congenital	.	170
HP:0002014	HP:0002028	Chronic diarrhea	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.	106
HP:0002014	HP:0002028	Chronic diarrhea	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0002014	HP:0025085	Bloody diarrhea	1	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency		159
HP:0002014	HP:0025085	Bloody diarrhea	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002014	HP:0002028	Chronic diarrhea	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002014	HP:0005208	Secretory diarrhea	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040282 - Frequent	32
HP:0002014	HP:0002028	Chronic diarrhea	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0002014	HP:0002254	Intermittent diarrhea	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002014	HP:0002254	Intermittent diarrhea	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent	37
HP:0002014	HP:0025085	Bloody diarrhea	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		23
HP:0002014	HP:0025085	Bloody diarrhea	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		8
HP:0002014	HP:0025085	Bloody diarrhea	1	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome		9
HP:0002014	HP:0002028	Chronic diarrhea	1	GUCY2C CL E G H	2984	4688	OMIM:614616	Diarrhea 6		12
HP:0002014	HP:0002028	Chronic diarrhea	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0002014	HP:0002028	Chronic diarrhea	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0002014	HP:0025085	Bloody diarrhea	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1		121
HP:0002014	HP:0002028	Chronic diarrhea	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002014	HP:0002028	Chronic diarrhea	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0002014	HP:0002028	Chronic diarrhea	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0002014	HP:0002028	Chronic diarrhea	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent	115
HP:0002014	HP:0025085	Bloody diarrhea	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002014	HP:0002028	Chronic diarrhea	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive		7
HP:0002014	HP:0002028	Chronic diarrhea	1	IKBKB CL E G H	3551	5960	OMIM:615592	Immunodeficiency 15	.	4
HP:0002014	HP:0025085	Bloody diarrhea	1	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002014	HP:0033343	Mucoid diarrhea	1	IL21 CL E G H	59067	6005	OMIM:615767	IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11		3
HP:0002014	HP:0002028	Chronic diarrhea	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56		7
HP:0002014	HP:0002028	Chronic diarrhea	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0002014	HP:0002028	Chronic diarrhea	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	48
HP:0002014	HP:0002028	Chronic diarrhea	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.	48
HP:0002014	HP:0025085	Bloody diarrhea	1	IL37 CL E G H	27178	15563	OMIM:619398	INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0002014	HP:0002028	Chronic diarrhea	1	IL6ST CL E G H	3572	6021	OMIM:618523	HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002014	HP:0002028	Chronic diarrhea	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	94
HP:0002014	HP:0002028	Chronic diarrhea	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0002014	HP:0002028	Chronic diarrhea	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002014	HP:0002028	Chronic diarrhea	1	IRF2BP2 CL E G H	359948	21729	OMIM:617765	IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14		4
HP:0002014	HP:0002028	Chronic diarrhea	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0002014	HP:0025085	Bloody diarrhea	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		119
HP:0002014	HP:0025085	Bloody diarrhea	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		69
HP:0002014	HP:0002028	Chronic diarrhea	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I		114
HP:0002014	HP:0025085	Bloody diarrhea	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia		80
HP:0002014	HP:0002041	Intractable diarrhea	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	124
HP:0002014	HP:0002028	Chronic diarrhea	1	JAK3 CL E G H	3718	6193	OMIM:600802	Scid, autosomal recessive, T-Negative/b-Positive type		140
HP:0002014	HP:0002028	Chronic diarrhea	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040282 - Frequent	140
HP:0002014	HP:0025085	Bloody diarrhea	1	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III		1
HP:0002014	HP:0002028	Chronic diarrhea	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0002014	HP:0002254	Intermittent diarrhea	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0002014	HP:0002028	Chronic diarrhea	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	88
HP:0002014	HP:0002028	Chronic diarrhea	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	88
HP:0002014	HP:0002028	Chronic diarrhea	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8		45
HP:0002014	HP:0002028	Chronic diarrhea	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0002014	HP:0002028	Chronic diarrhea	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0002014	HP:0025085	Bloody diarrhea	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1		462
HP:0002014	HP:0002028	Chronic diarrhea	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0002014	HP:0002028	Chronic diarrhea	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent	81
HP:0002014	HP:0002028	Chronic diarrhea	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0002014	HP:0004385	Protracted diarrhea	1	MYO5B CL E G H	4645	7603	OMIM:251850	Diarrhea 2, with microvillous atrophy	.	192
HP:0002014	HP:0002028	Chronic diarrhea	1	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0002014	HP:0005208	Secretory diarrhea	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0002014	HP:0002028	Chronic diarrhea	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional	84
HP:0002014	HP:0002028	Chronic diarrhea	1	OTULIN CL E G H	90268	25118	OMIM:617099	AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS		3
HP:0002014	HP:0002254	Intermittent diarrhea	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0002014	HP:0002254	Intermittent diarrhea	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0002014	HP:0005208	Secretory diarrhea	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040282 - Frequent
HP:0002014	HP:0002028	Chronic diarrhea	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040281 - Very frequent
HP:0002014	HP:0002028	Chronic diarrhea	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0002014	HP:0025085	Bloody diarrhea	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	11
HP:0002014	HP:0002028	Chronic diarrhea	1	PIK3CD CL E G H	5293	8977	OMIM:619281	IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B		9
HP:0002014	HP:0002028	Chronic diarrhea	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	HP:0040284 - Very rare	43
HP:0002014	HP:0002028	Chronic diarrhea	1	PKP1 CL E G H	5317	9023	ORPHA:158668	Ectodermal dysplasia-skin fragility syndrome	HP:0040283 - Occasional	107
HP:0002014	HP:0002041	Intractable diarrhea	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.	759
HP:0002014	HP:0025085	Bloody diarrhea	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0002014	HP:0005208	Secretory diarrhea	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0002014	HP:0002028	Chronic diarrhea	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR		2
HP:0002014	HP:0002254	Intermittent diarrhea	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0002014	HP:0002028	Chronic diarrhea	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0002014	HP:0002028	Chronic diarrhea	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0002014	HP:0025085	Bloody diarrhea	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy		948
HP:0002014	HP:0002254	Intermittent diarrhea	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002014	HP:0025085	Bloody diarrhea	1	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III
HP:0002014	HP:0002028	Chronic diarrhea	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	127
HP:0002014	HP:0004385	Protracted diarrhea	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	127
HP:0002014	HP:0002028	Chronic diarrhea	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	50
HP:0002014	HP:0004385	Protracted diarrhea	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040282 - Frequent	50
HP:0002014	HP:0025085	Bloody diarrhea	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002014	HP:0002028	Chronic diarrhea	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002014	HP:0002028	Chronic diarrhea	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92		1
HP:0002014	HP:0004385	Protracted diarrhea	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.	38
HP:0002014	HP:0004385	Protracted diarrhea	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	38
HP:0002014	HP:0004385	Protracted diarrhea	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.	26
HP:0002014	HP:0004385	Protracted diarrhea	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	26
HP:0002014	HP:0004385	Protracted diarrhea	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.	34
HP:0002014	HP:0004385	Protracted diarrhea	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent	34
HP:0002014	HP:0002028	Chronic diarrhea	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent	37
HP:0002014	HP:0002028	Chronic diarrhea	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0002014	HP:0002028	Chronic diarrhea	1	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0002014	HP:0002028	Chronic diarrhea	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0002014	HP:0004385	Protracted diarrhea	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040282 - Frequent	129
HP:0002014	HP:0002041	Intractable diarrhea	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0002014	HP:0025085	Bloody diarrhea	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002014	HP:0002028	Chronic diarrhea	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0002014	HP:0025085	Bloody diarrhea	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0002014	HP:0025085	Bloody diarrhea	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002014	HP:0002041	Intractable diarrhea	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040281 - Very frequent
HP:0002014	HP:0002041	Intractable diarrhea	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002014	HP:0002028	Chronic diarrhea	1	SLC10A2 CL E G H	6555	10906	OMIM:613291	Bile acid malabsorption, primary		6
HP:0002014	HP:0002028	Chronic diarrhea	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0002014	HP:0002028	Chronic diarrhea	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040281 - Very frequent	55
HP:0002014	HP:0002028	Chronic diarrhea	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002014	HP:0002028	Chronic diarrhea	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002014	HP:0002028	Chronic diarrhea	1	SLC5A1 CL E G H	6523	11036	OMIM:606824	Glucose/galactose malabsorption	.	74
HP:0002014	HP:0005208	Secretory diarrhea	1	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital		7
HP:0002014	HP:0005208	Secretory diarrhea	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant		13
HP:0002014	HP:0005208	Secretory diarrhea	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2		13
HP:0002014	HP:0002254	Intermittent diarrhea	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0002014	HP:0025085	Bloody diarrhea	1	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli		504
HP:0002014	HP:0025085	Bloody diarrhea	1	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0002014	HP:0025085	Bloody diarrhea	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504
HP:0002014	HP:0002041	Intractable diarrhea	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2		3
HP:0002014	HP:0002028	Chronic diarrhea	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002014	HP:0002028	Chronic diarrhea	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002014	HP:0005208	Secretory diarrhea	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.	6
HP:0002014	HP:0002028	Chronic diarrhea	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0002014	HP:0025085	Bloody diarrhea	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary		1
HP:0002014	HP:0025085	Bloody diarrhea	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0002014	HP:0005208	Secretory diarrhea	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12		1
HP:0002014	HP:0002028	Chronic diarrhea	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID		1
HP:0002014	HP:0002041	Intractable diarrhea	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82		1
HP:0002014	HP:0025085	Bloody diarrhea	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002014	HP:0002028	Chronic diarrhea	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0002014	HP:0002028	Chronic diarrhea	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.	238
HP:0002014	HP:0002028	Chronic diarrhea	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46		1
HP:0002014	HP:0025085	Bloody diarrhea	1	TGFB1 CL E G H	7040	11766	OMIM:618213	INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE		13
HP:0002014	HP:0002028	Chronic diarrhea	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002014	HP:0002254	Intermittent diarrhea	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57		1
HP:0002014	HP:0002028	Chronic diarrhea	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant		131
HP:0002014	HP:0002028	Chronic diarrhea	1	TOM1 CL E G H	10043	11982	OMIM:619510	IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002014	HP:0002254	Intermittent diarrhea	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0002014	HP:0025085	Bloody diarrhea	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent	26
HP:0002014	HP:0025085	Bloody diarrhea	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0002014	HP:0002254	Intermittent diarrhea	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0002014	HP:0005208	Secretory diarrhea	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002014	HP:0002028	Chronic diarrhea	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002014	HP:0025085	Bloody diarrhea	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome		65
HP:0002014	HP:0002028	Chronic diarrhea	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	65
HP:0002014	HP:0002028	Chronic diarrhea	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002014	HP:0025085	Bloody diarrhea	1	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome		65
HP:0002014	HP:0025085	Bloody diarrhea	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome		6
HP:0002014	HP:0002028	Chronic diarrhea	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040281 - Very frequent	6
HP:0002014	HP:0002028	Chronic diarrhea	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040282 - Frequent	46
HP:0002014	HP:0002254	Intermittent diarrhea	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002014	HP:0025086	Bloody mucoid diarrhea	2	CL E G H
HP:0002014	HP:0002249	Melena	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002014	HP:0002573	Hematochezia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002014	HP:0002573	Hematochezia	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4		44
HP:0002014	HP:0002249	Melena	2	APC CL E G H	324	583	OMIM:619182	GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH; GAPPS		3179
HP:0002014	HP:0002573	Hematochezia	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002014	HP:0002249	Melena	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional	3179
HP:0002014	HP:0002573	Hematochezia	2	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0002014	HP:0002249	Melena	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional	169
HP:0002014	HP:0002573	Hematochezia	2	BMPR1A CL E G H	657	1076	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	385
HP:0002014	HP:0002573	Hematochezia	2	BMPR1A CL E G H	657	1076	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	385
HP:0002014	HP:0002249	Melena	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0002014	HP:0002573	Hematochezia	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	385
HP:0002014	HP:0002573	Hematochezia	2	BMPR1A CL E G H	657	1076	OMIM:174900	Juvenile polyposis syndrome		385
HP:0002014	HP:0002249	Melena	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional
HP:0002014	HP:0002249	Melena	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002014	HP:0002249	Melena	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002014	HP:0002249	Melena	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002014	HP:0002249	Melena	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002014	HP:0002573	Hematochezia	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3		57
HP:0002014	HP:0002249	Melena	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002014	HP:0002573	Hematochezia	2	ENG CL E G H	2022	3349	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	186
HP:0002014	HP:0002249	Melena	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002014	HP:0002573	Hematochezia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002014	HP:0002573	Hematochezia	2	F5 CL E G H	2153	3542	ORPHA:326	Congenital factor V deficiency	HP:0040284 - Very rare	159
HP:0002014	HP:0002249	Melena	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I		107
HP:0002014	HP:0002249	Melena	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	23
HP:0002014	HP:0002249	Melena	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	8
HP:0002014	HP:0002573	Hematochezia	2	GREM1 CL E G H	26585	2001	ORPHA:157794	Hereditary mixed polyposis syndrome	HP:0040281 - Very frequent	9
HP:0002014	HP:0002573	Hematochezia	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.	121
HP:0002014	HP:0002573	Hematochezia	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7		28
HP:0002014	HP:0002573	Hematochezia	2	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0002014	HP:0002249	Melena	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	119
HP:0002014	HP:0002249	Melena	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	69
HP:0002014	HP:0002249	Melena	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040283 - Occasional	80
HP:0002014	HP:0002249	Melena	2	KIF23 CL E G H	9493	6392	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional	1
HP:0002014	HP:0002249	Melena	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002014	HP:0002573	Hematochezia	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0002014	HP:0002249	Melena	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0002014	HP:0002573	Hematochezia	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040282 - Frequent	948
HP:0002014	HP:0002249	Melena	2	RACGAP1 CL E G H	29127	9804	ORPHA:98870	Congenital dyserythropoietic anemia type III	HP:0040283 - Occasional
HP:0002014	HP:0002573	Hematochezia	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency		10
HP:0002014	HP:0002573	Hematochezia	2	SMAD4 CL E G H	4089	6770	ORPHA:329971	Generalized juvenile polyposis/juvenile polyposis coli	HP:0040282 - Frequent	504
HP:0002014	HP:0002573	Hematochezia	2	SMAD4 CL E G H	4089	6770	OMIM:174900	Juvenile polyposis syndrome		504
HP:0002014	HP:0002573	Hematochezia	2	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	.	504
HP:0002014	HP:0002249	Melena	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	HP:0040283 - Occasional	1
HP:0002014	HP:0002573	Hematochezia	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002014	HP:0002573	Hematochezia	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.	26
HP:0002014	HP:0002573	Hematochezia	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	65
HP:0002014	HP:0002249	Melena	2	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65
HP:0002014	HP:0002573	Hematochezia	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040282 - Frequent	6