Human Phenotype Ontology 
Grandparent Node:
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Abnormality of digestive system physiology (HP:0025032)help
Parent Node:
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Abdominal symptom (HP:0011458)help
..Starting node
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Diarrhea (HP:0002014)help
Term ID: 2014
Name: Diarrhea
Synonym: Diarrhea; Diarrhoea; Watery stool
Definition: Abnormally increased frequency of loose or watery bowel movements.
Comments:
Reference: HP:0002014
Genes and Diseases:
 
       Child Nodes:
........expandChronic diarrhea (HP:0002028) help
........expandIntractable diarrhea (HP:0002041) help
........expandIntermittent diarrhea (HP:0002254) help
........expandProtracted diarrhea (HP:0004385) help
........expandSecretory diarrhea (HP:0005208) help
........expandBloody diarrhea (HP:0025085) help
................... HP:0002249 Melena
................... HP:0002573 Hematochezia
................... HP:0025086 Bloody mucoid diarrhea

 Sister Nodes: 
..expandAbdominal distention (HP:0003270) help
..expandAbdominal pain (HP:0002027) help
..expandAbnormal bowel sounds (HP:0030142) help
..expandAnorexia (HP:0002039) help
..expandConstipation (HP:0002019) help
..expandFeeding difficulties (HP:0011968) help
..expandMalnutrition (HP:0004395) help
..expandNausea and vomiting (HP:0002017) help
..expandPoor appetite (HP:0004396) help
..expandProtein avoidance (HP:0002038) help
..expandScaphoid abdomen (HP:0025063) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002014HP:0002014Diarrhea0ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0002014HP:0002014Diarrhea0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0002014HP:0002014Diarrhea0ABCC8 CL E G H6833276575ORPHA166160259600509
HP:0002014HP:0002014Diarrhea0ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM12227827288614245
HP:0002014HP:0002014Diarrhea0ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002014HP:0002014Diarrhea0ADA CL E G H100277ORPHA196215186608958
HP:0002014HP:0002014Diarrhea0ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0002014HP:0002014Diarrhea0AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0002014HP:0002014Diarrhea0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0002014HP:0002014Diarrhea0AK2 CL E G H20433355ORPHA11987362103020
HP:0002014HP:0002014Diarrhea0AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0002014HP:0002014Diarrhea0ALAD CL E G H210100924ORPHA112147395125270
HP:0002014HP:0002014Diarrhea0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0002014HP:0002014Diarrhea0ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0002014HP:0002014Diarrhea0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM14820421732608041
HP:0002014HP:0002014Diarrhea0AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0002014HP:0002014Diarrhea0ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0002014HP:0002014Diarrhea0ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0002014HP:0002014Diarrhea0AVP CL E G H55130925ORPHA18369894192340
HP:0002014HP:0002014Diarrhea0BLM CL E G H641125ORPHA113115161058604610
HP:0002014HP:0002014Diarrhea0BLNK CL E G H2976033110ORPHA139114211604515
HP:0002014HP:0002014Diarrhea0BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM139114211604515
HP:0002014HP:0002014Diarrhea0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0002014HP:0002014Diarrhea0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM19104211133300300
HP:0002014HP:0002014Diarrhea0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104211133300300
HP:0002014HP:0002014Diarrhea0CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM185627089610859
HP:0002014HP:0002014Diarrhea0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0002014HP:0002014Diarrhea0CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM15811673186790
HP:0002014HP:0002014Diarrhea0CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0002014HP:0002014Diarrhea0CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0002014HP:0002014Diarrhea0CD79A CL E G H97333110ORPHA18531698112205
HP:0002014HP:0002014Diarrhea0CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM18531698112205
HP:0002014HP:0002014Diarrhea0CD79B CL E G H97433110ORPHA13511699147245
HP:0002014HP:0002014Diarrhea0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM13511699147245
HP:0002014HP:0002014Diarrhea0CDKN1A CL E G H1026652AmebiasisORPHA18141784116899
HP:0002014HP:0002014Diarrhea0CDKN1B CL E G H1027276152ORPHA1254161785600778
HP:0002014HP:0002014Diarrhea0CDKN1B CL E G H1027652AmebiasisORPHA1254161785600778
HP:0002014HP:0002014Diarrhea0CDKN2B CL E G H1030652AmebiasisORPHA114931788600431
HP:0002014HP:0002014Diarrhea0CDKN2C CL E G H1031652AmebiasisORPHA12161789603369
HP:0002014HP:0002014Diarrhea0CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002014HP:0002014Diarrhea0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0002014HP:0002014Diarrhea0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0002014HP:0002014Diarrhea0CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0002014HP:0002014Diarrhea0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11163032605606530
HP:0002014HP:0002014Diarrhea0CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0002014HP:0002014Diarrhea0DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0002014HP:0002014Diarrhea0DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM19131817642605988
HP:0002014HP:0002014Diarrhea0DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM1591162719107930
HP:0002014HP:0002014Diarrhea0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM11264942770125660
HP:0002014HP:0002014Diarrhea0DGAT1 CL E G H8694615863Diarrhea 7615863C4014516OMIM112872843604900
HP:0002014HP:0002014Diarrhea0DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0002014HP:0002014Diarrhea0EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM135725789617538
HP:0002014HP:0002014Diarrhea0EGFR CL E G H1956616069Inflammatory skin and bowel disease, neonatal, 2616069C4015130OMIM1285833236131550
HP:0002014HP:0002014Diarrhea0ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0002014HP:0002014Diarrhea0ETHE1 CL E G H2347451188ORPHA13712723287608451
HP:0002014HP:0002014Diarrhea0FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM11082566106300292
HP:0002014HP:0002014Diarrhea0GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0002014HP:0002014Diarrhea0GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM143728980610608
HP:0002014HP:0002014Diarrhea0GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0002014HP:0002014Diarrhea0GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0002014HP:0002014Diarrhea0GUCY2C CL E G H2984614616Diarrhea 6614616C3553270OMIM110894688601330
HP:0002014HP:0002014Diarrhea0HADH CL E G H303371212ORPHA126944799601609
HP:0002014HP:0002014Diarrhea0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0002014HP:0002014Diarrhea0HLA-B CL E G H310636426ORPHA153174932142830
HP:0002014HP:0002014Diarrhea0HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0002014HP:0002014Diarrhea0HMGCS2 CL E G H3158605911mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency605911C2751532OMIM1331275008600234
HP:0002014HP:0002014Diarrhea0HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0002014HP:0002014Diarrhea0HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0002014HP:0002014Diarrhea0HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0002014HP:0002014Diarrhea0HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0002014HP:0002014Diarrhea0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161085351604558
HP:0002014HP:0002014Diarrhea0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161085351604558
HP:0002014HP:0002014Diarrhea0IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0002014HP:0002014Diarrhea0IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0002014HP:0002014Diarrhea0IGHM CL E G H350733110ORPHA117815541147020
HP:0002014HP:0002014Diarrhea0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM117815541147020
HP:0002014HP:0002014Diarrhea0IGLL1 CL E G H354333110ORPHA131865870146770
HP:0002014HP:0002014Diarrhea0IKZF1 CL E G H1032036426ORPHA1384213176603023
HP:0002014HP:0002014Diarrhea0IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0002014HP:0002014Diarrhea0JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM1833416193600173
HP:0002014HP:0002014Diarrhea0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0002014HP:0002014Diarrhea0KCNJ11 CL E G H3767276580ORPHA11872276257600937
HP:0002014HP:0002014Diarrhea0LCK CL E G H3932615758Immunodeficiency 22615758C4014233OMIM13626524153390
HP:0002014HP:0002014Diarrhea0LCT CL E G H3938223000Congenital lactase deficiency223000C0268179OMIM1301406530603202
HP:0002014HP:0002014Diarrhea0LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1962466617613497
HP:0002014HP:0002014Diarrhea0LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0002014HP:0002014Diarrhea0LRRC8A CL E G H5626233110ORPHA137419027608360
HP:0002014HP:0002014Diarrhea0MCM6 CL E G H4175223100Nonpersistence of intestinal lactase223100C0268181OMIM12236949601806
HP:0002014HP:0002014Diarrhea0MEFV CL E G H4210342ORPHA11895616998608107
HP:0002014HP:0002014Diarrhea0MEN1 CL E G H4221652AmebiasisORPHA174811317010613733
HP:0002014HP:0002014Diarrhea0MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM174811317010613733
HP:0002014HP:0002014Diarrhea0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0002014HP:0002014Diarrhea0MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211747216154550
HP:0002014HP:0002014Diarrhea0MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0002014HP:0002014Diarrhea0MVK CL E G H4598343ORPHA11832777530251170
HP:0002014HP:0002014Diarrhea0MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11832777530251170
HP:0002014HP:0002014Diarrhea0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0002014HP:0002014Diarrhea0MYO5B CL E G H46452290ORPHA1814197603606540
HP:0002014HP:0002014Diarrhea0NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0002014HP:0002014Diarrhea0NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM114820457652602667
HP:0002014HP:0002014Diarrhea0NCF4 CL E G H4689613960Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III613960C3151409OMIM1131197662601488
HP:0002014HP:0002014Diarrhea0NEUROG3 CL E G H5067483620ORPHA1102213806604882
HP:0002014HP:0002014Diarrhea0NEUROG3 CL E G H50674610370Diarrhea 4, malabsorptive, congenital610370C1835888OMIM1102213806604882
HP:0002014HP:0002014Diarrhea0NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0002014HP:0002014Diarrhea0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0002014HP:0002014Diarrhea0NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM1762057979600983
HP:0002014HP:0002014Diarrhea0OPLAH CL E G H268732600055-Oxoprolinase deficiency260005C0268525OMIM1281278149614243
HP:0002014HP:0002014Diarrhea0PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM1491378743162150
HP:0002014HP:0002014Diarrhea0PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM1262358927172490
HP:0002014HP:0002014Diarrhea0PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM1127214938610272
HP:0002014HP:0002014Diarrhea0PIK3R1 CL E G H529533110ORPHA1291568979171833
HP:0002014HP:0002014Diarrhea0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0002014HP:0002014Diarrhea0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0002014HP:0002014Diarrhea0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002014HP:0002014Diarrhea0PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM182259666151460
HP:0002014HP:0002014Diarrhea0RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0002014HP:0002014Diarrhea0RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11873349831179615
HP:0002014HP:0002014Diarrhea0RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0002014HP:0002014Diarrhea0RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1841759832179616
HP:0002014HP:0002014Diarrhea0RECQL4 CL E G H9401266280Rapadilino syndrome266280C1849453OMIM112220289949603780
HP:0002014HP:0002014Diarrhea0RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0002014HP:0002014Diarrhea0RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM1327121478612659
HP:0002014HP:0002014Diarrhea0RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM146310019603453
HP:0002014HP:0002014Diarrhea0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002014HP:0002014Diarrhea0SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0002014HP:0002014Diarrhea0SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0002014HP:0002014Diarrhea0SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12045410583604385
HP:0002014HP:0002014Diarrhea0SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1129109210597603415
HP:0002014HP:0002014Diarrhea0SCNN1A CL E G H6337264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM14917110599600228
HP:0002014HP:0002014Diarrhea0SCNN1B CL E G H6338264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM15014510600600760
HP:0002014HP:0002014Diarrhea0SCNN1G CL E G H6340264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM12312110602600761
HP:0002014HP:0002014Diarrhea0SERPING1 CL E G H710100050ORPHA15671881228606860
HP:0002014HP:0002014Diarrhea0SERPING1 CL E G H710106100Hereditary angioedema type 1106100C2717906OMIM15671881228606860
HP:0002014HP:0002014Diarrhea0SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0002014HP:0002014Diarrhea0SI CL E G H6476222900Sucrase-isomaltase deficiency222900C1283620OMIM12521110856609845
HP:0002014HP:0002014Diarrhea0SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM13612010898600478
HP:0002014HP:0002014Diarrhea0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM19018410910600839
HP:0002014HP:0002014Diarrhea0SLC19A2 CL E G H1056049827ORPHA15113710938603941
HP:0002014HP:0002014Diarrhea0SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0002014HP:0002014Diarrhea0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0002014HP:0002014Diarrhea0SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0002014HP:0002014Diarrhea0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0002014HP:0002014Diarrhea0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0002014HP:0002014Diarrhea0STAT1 CL E G H6772391487ORPHA113024911362600555
HP:0002014HP:0002014Diarrhea0STX3 CL E G H68092290ORPHA131611438600876
HP:0002014HP:0002014Diarrhea0SUGCT CL E G H79783231690Glutaryl-CoA oxidase deficiency231690C0342873OMIM178416001609187
HP:0002014HP:0002014Diarrhea0TCF3 CL E G H692933110ORPHA159111633147141
HP:0002014HP:0002014Diarrhea0TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14120811653613441
HP:0002014HP:0002014Diarrhea0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0002014HP:0002014Diarrhea0TMPRSS15 CL E G H5651226200Enterokinase deficiency226200C0268416OMIM161059490606635
HP:0002014HP:0002014Diarrhea0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15022818153604907
HP:0002014HP:0002014Diarrhea0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM138217755606269
HP:0002014HP:0002014Diarrhea0TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0002014HP:0002014Diarrhea0TREH CL E G H11181612119alpha, alpha-Trehalase deficiency612119C0268187OMIM123212266275360
HP:0002014HP:0002014Diarrhea0TSHR CL E G H7253424ORPHA116117812373603372
HP:0002014HP:0002014Diarrhea0TSHR CL E G H725399819ORPHA116117812373603372
HP:0002014HP:0002014Diarrhea0TTR CL E G H727685447ORPHA115124012405176300
HP:0002014HP:0002014Diarrhea0TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0002014HP:0002014Diarrhea0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002014HP:0002014Diarrhea0UCP2 CL E G H7351276556ORPHA1103612518601693
HP:0002014HP:0002014Diarrhea0ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM13018612858176947
HP:0002014HP:0002014Diarrhea1ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0002014HP:0002014Diarrhea1ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0002014HP:0002014Diarrhea1ABCC8 CL E G H6833276575ORPHA166160259600509
HP:0002014HP:0002014Diarrhea1ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM12227827288614245
HP:0002014HP:0002014Diarrhea1ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002014HP:0002014Diarrhea1ADA CL E G H100277ORPHA196215186608958
HP:0002014HP:0002014Diarrhea1ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0002014HP:0002014Diarrhea1AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0002014HP:0002014Diarrhea1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0002014HP:0002014Diarrhea1AK2 CL E G H20433355ORPHA11987362103020
HP:0002014HP:0002014Diarrhea1AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0002014HP:0002014Diarrhea1ALAD CL E G H210100924ORPHA112147395125270
HP:0002014HP:0002014Diarrhea1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0002014HP:0002014Diarrhea1ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0002014HP:0002014Diarrhea1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM14820421732608041
HP:0002014HP:0002014Diarrhea1AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0002014HP:0002014Diarrhea1ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0002014HP:0002014Diarrhea1ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0002014HP:0002014Diarrhea1AVP CL E G H55130925ORPHA18369894192340
HP:0002014HP:0002014Diarrhea1BLM CL E G H641125ORPHA113115161058604610
HP:0002014HP:0002014Diarrhea1BLNK CL E G H2976033110ORPHA139114211604515
HP:0002014HP:0002014Diarrhea1BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM139114211604515
HP:0002014HP:0002014Diarrhea1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0002014HP:0002014Diarrhea1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM19104211133300300
HP:0002014HP:0002014Diarrhea1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104211133300300
HP:0002014HP:0002014Diarrhea1CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM185627089610859
HP:0002014HP:0002014Diarrhea1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0002014HP:0002014Diarrhea1CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM15811673186790
HP:0002014HP:0002014Diarrhea1CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0002014HP:0002014Diarrhea1CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0002014HP:0002014Diarrhea1CD79A CL E G H97333110ORPHA18531698112205
HP:0002014HP:0002014Diarrhea1CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM18531698112205
HP:0002014HP:0002014Diarrhea1CD79B CL E G H97433110ORPHA13511699147245
HP:0002014HP:0002014Diarrhea1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM13511699147245
HP:0002014HP:0002014Diarrhea1CDKN1A CL E G H1026652AmebiasisORPHA18141784116899
HP:0002014HP:0002014Diarrhea1CDKN1B CL E G H1027276152ORPHA1254161785600778
HP:0002014HP:0002014Diarrhea1CDKN1B CL E G H1027652AmebiasisORPHA1254161785600778
HP:0002014HP:0002014Diarrhea1CDKN2B CL E G H1030652AmebiasisORPHA114931788600431
HP:0002014HP:0002014Diarrhea1CDKN2C CL E G H1031652AmebiasisORPHA12161789603369
HP:0002014HP:0002014Diarrhea1CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002014HP:0002014Diarrhea1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0002014HP:0002014Diarrhea1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0002014HP:0002014Diarrhea1CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0002014HP:0002014Diarrhea1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11163032605606530
HP:0002014HP:0002014Diarrhea1CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0002014HP:0002014Diarrhea1DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0002014HP:0002014Diarrhea1DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM19131817642605988
HP:0002014HP:0002014Diarrhea1DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM1591162719107930
HP:0002014HP:0002014Diarrhea1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM11264942770125660
HP:0002014HP:0002014Diarrhea1DGAT1 CL E G H8694615863Diarrhea 7615863C4014516OMIM112872843604900
HP:0002014HP:0002014Diarrhea1DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0002014HP:0002014Diarrhea1EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM135725789617538
HP:0002014HP:0002014Diarrhea1EGFR CL E G H1956616069Inflammatory skin and bowel disease, neonatal, 2616069C4015130OMIM1285833236131550
HP:0002014HP:0002014Diarrhea1ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0002014HP:0002014Diarrhea1ETHE1 CL E G H2347451188ORPHA13712723287608451
HP:0002014HP:0002014Diarrhea1FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM11082566106300292
HP:0002014HP:0002014Diarrhea1GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0002014HP:0002014Diarrhea1GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM143728980610608
HP:0002014HP:0002014Diarrhea1GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0002014HP:0002014Diarrhea1GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0002014HP:0002014Diarrhea1GUCY2C CL E G H2984614616Diarrhea 6614616C3553270OMIM110894688601330
HP:0002014HP:0002014Diarrhea1HADH CL E G H303371212ORPHA126944799601609
HP:0002014HP:0002014Diarrhea1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0002014HP:0002014Diarrhea1HLA-B CL E G H310636426ORPHA153174932142830
HP:0002014HP:0002014Diarrhea1HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0002014HP:0002014Diarrhea1HMGCS2 CL E G H3158605911mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency605911C2751532OMIM1331275008600234
HP:0002014HP:0002014Diarrhea1HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0002014HP:0002014Diarrhea1HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0002014HP:0002014Diarrhea1HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0002014HP:0002014Diarrhea1HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0002014HP:0002014Diarrhea1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161085351604558
HP:0002014HP:0002014Diarrhea1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161085351604558
HP:0002014HP:0002014Diarrhea1IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0002014HP:0002014Diarrhea1IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0002014HP:0002014Diarrhea1IGHM CL E G H350733110ORPHA117815541147020
HP:0002014HP:0002014Diarrhea1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM117815541147020
HP:0002014HP:0002014Diarrhea1IGLL1 CL E G H354333110ORPHA131865870146770
HP:0002014HP:0002014Diarrhea1IKZF1 CL E G H1032036426ORPHA1384213176603023
HP:0002014HP:0002014Diarrhea1IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0002014HP:0002014Diarrhea1JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM1833416193600173
HP:0002014HP:0002014Diarrhea1KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0002014HP:0002014Diarrhea1KCNJ11 CL E G H3767276580ORPHA11872276257600937
HP:0002014HP:0002014Diarrhea1LCK CL E G H3932615758Immunodeficiency 22615758C4014233OMIM13626524153390
HP:0002014HP:0002014Diarrhea1LCT CL E G H3938223000Congenital lactase deficiency223000C0268179OMIM1301406530603202
HP:0002014HP:0002014Diarrhea1LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1962466617613497
HP:0002014HP:0002014Diarrhea1LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0002014HP:0002014Diarrhea1LRRC8A CL E G H5626233110ORPHA137419027608360
HP:0002014HP:0002014Diarrhea1MCM6 CL E G H4175223100Nonpersistence of intestinal lactase223100C0268181OMIM12236949601806
HP:0002014HP:0002014Diarrhea1MEFV CL E G H4210342ORPHA11895616998608107
HP:0002014HP:0002014Diarrhea1MEN1 CL E G H4221652AmebiasisORPHA174811317010613733
HP:0002014HP:0002014Diarrhea1MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM174811317010613733
HP:0002014HP:0002014Diarrhea1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0002014HP:0002014Diarrhea1MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211747216154550
HP:0002014HP:0002014Diarrhea1MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0002014HP:0002014Diarrhea1MVK CL E G H4598343ORPHA11832777530251170
HP:0002014HP:0002014Diarrhea1MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11832777530251170
HP:0002014HP:0002014Diarrhea1MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0002014HP:0002014Diarrhea1MYO5B CL E G H46452290ORPHA1814197603606540
HP:0002014HP:0002014Diarrhea1NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0002014HP:0002014Diarrhea1NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM114820457652602667
HP:0002014HP:0002014Diarrhea1NCF4 CL E G H4689613960Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III613960C3151409OMIM1131197662601488
HP:0002014HP:0002014Diarrhea1NEUROG3 CL E G H5067483620ORPHA1102213806604882
HP:0002014HP:0002014Diarrhea1NEUROG3 CL E G H50674610370Diarrhea 4, malabsorptive, congenital610370C1835888OMIM1102213806604882
HP:0002014HP:0002014Diarrhea1NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0002014HP:0002014Diarrhea1NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0002014HP:0002014Diarrhea1NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM1762057979600983
HP:0002014HP:0002014Diarrhea1OPLAH CL E G H268732600055-Oxoprolinase deficiency260005C0268525OMIM1281278149614243
HP:0002014HP:0002014Diarrhea1PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM1491378743162150
HP:0002014HP:0002014Diarrhea1PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM1262358927172490
HP:0002014HP:0002014Diarrhea1PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM1127214938610272
HP:0002014HP:0002014Diarrhea1PIK3R1 CL E G H529533110ORPHA1291568979171833
HP:0002014HP:0002014Diarrhea1PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0002014HP:0002014Diarrhea1POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0002014HP:0002014Diarrhea1POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002014HP:0002014Diarrhea1PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM182259666151460
HP:0002014HP:0002014Diarrhea1RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0002014HP:0002014Diarrhea1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11873349831179615
HP:0002014HP:0002014Diarrhea1RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0002014HP:0002014Diarrhea1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1841759832179616
HP:0002014HP:0002014Diarrhea1RECQL4 CL E G H9401266280Rapadilino syndrome266280C1849453OMIM112220289949603780
HP:0002014HP:0002014Diarrhea1RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0002014HP:0002014Diarrhea1RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM1327121478612659
HP:0002014HP:0002014Diarrhea1RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM146310019603453
HP:0002014HP:0002014Diarrhea1RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002014HP:0002014Diarrhea1SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0002014HP:0002014Diarrhea1SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0002014HP:0002014Diarrhea1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12045410583604385
HP:0002014HP:0002014Diarrhea1SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1129109210597603415
HP:0002014HP:0002014Diarrhea1SCNN1A CL E G H6337264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM14917110599600228
HP:0002014HP:0002014Diarrhea1SCNN1B CL E G H6338264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM15014510600600760
HP:0002014HP:0002014Diarrhea1SCNN1G CL E G H6340264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM12312110602600761
HP:0002014HP:0002014Diarrhea1SERPING1 CL E G H710100050ORPHA15671881228606860
HP:0002014HP:0002014Diarrhea1SERPING1 CL E G H710106100Hereditary angioedema type 1106100C2717906OMIM15671881228606860
HP:0002014HP:0002014Diarrhea1SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0002014HP:0002014Diarrhea1SI CL E G H6476222900Sucrase-isomaltase deficiency222900C1283620OMIM12521110856609845
HP:0002014HP:0002014Diarrhea1SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM13612010898600478
HP:0002014HP:0002014Diarrhea1SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM19018410910600839
HP:0002014HP:0002014Diarrhea1SLC19A2 CL E G H1056049827ORPHA15113710938603941
HP:0002014HP:0002014Diarrhea1SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0002014HP:0002014Diarrhea1SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0002014HP:0002014Diarrhea1SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0002014HP:0002014Diarrhea1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0002014HP:0002014Diarrhea1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0002014HP:0002014Diarrhea1STAT1 CL E G H6772391487ORPHA113024911362600555
HP:0002014HP:0002014Diarrhea1STX3 CL E G H68092290ORPHA131611438600876
HP:0002014HP:0002014Diarrhea1SUGCT CL E G H79783231690Glutaryl-CoA oxidase deficiency231690C0342873OMIM178416001609187
HP:0002014HP:0002014Diarrhea1TCF3 CL E G H692933110ORPHA159111633147141
HP:0002014HP:0002014Diarrhea1TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14120811653613441
HP:0002014HP:0002014Diarrhea1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0002014HP:0002014Diarrhea1TMPRSS15 CL E G H5651226200Enterokinase deficiency226200C0268416OMIM161059490606635
HP:0002014HP:0002014Diarrhea1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15022818153604907
HP:0002014HP:0002014Diarrhea1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM138217755606269
HP:0002014HP:0002014Diarrhea1TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0002014HP:0002014Diarrhea1TREH CL E G H11181612119alpha, alpha-Trehalase deficiency612119C0268187OMIM123212266275360
HP:0002014HP:0002014Diarrhea1TSHR CL E G H725399819ORPHA116117812373603372
HP:0002014HP:0002014Diarrhea1TSHR CL E G H7253424ORPHA116117812373603372
HP:0002014HP:0002014Diarrhea1TTR CL E G H727685447ORPHA115124012405176300
HP:0002014HP:0002014Diarrhea1TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0002014HP:0002014Diarrhea1TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002014HP:0002014Diarrhea1UCP2 CL E G H7351276556ORPHA1103612518601693
HP:0002014HP:0002014Diarrhea1ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM13018612858176947
HP:0002014HP:0002014Diarrhea2ABCB11 CL E G H8647601847Progressive familial intrahepatic cholestasis 2601847C3489789OMIM133146042603201
HP:0002014HP:0002014Diarrhea2ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124433445171060
HP:0002014HP:0002014Diarrhea2ABCC8 CL E G H6833276575ORPHA166160259600509
HP:0002014HP:0002014Diarrhea2ACSF3 CL E G H197322614265Combined malonic and methylmalonic aciduria614265C3280314OMIM12227827288614245
HP:0002014HP:0002014Diarrhea2ACTG2 CL E G H72155310Visceral myopathy155310C1835084OMIM12049145102545
HP:0002014HP:0002014Diarrhea2ADA CL E G H100277ORPHA196215186608958
HP:0002014HP:0002014Diarrhea2ADA CL E G H100102700Severe combined immunodeficiency due to ADA deficiency102700C1863236OMIM196215186608958
HP:0002014HP:0002014Diarrhea2AGA CL E G H175208400Aspartylglucosaminuria208400C0268225OMIM138239318613228
HP:0002014HP:0002014Diarrhea2AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0002014HP:0002014Diarrhea2AK2 CL E G H20433355ORPHA11987362103020
HP:0002014HP:0002014Diarrhea2AKR1D1 CL E G H6718235555Bile acid synthesis defect, congenital, 2235555C1856127OMIM115179388604741
HP:0002014HP:0002014Diarrhea2ALAD CL E G H210100924ORPHA112147395125270
HP:0002014HP:0002014Diarrhea2ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM11912323056608750
HP:0002014HP:0002014Diarrhea2ALG8 CL E G H79053608104Congenital disorder of glycosylation type 1H608104C2931002OMIM1179623161608103
HP:0002014HP:0002014Diarrhea2ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM14820421732608041
HP:0002014HP:0002014Diarrhea2AP1S1 CL E G H1174609313Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma609313C1836330OMIM1236559603531
HP:0002014HP:0002014Diarrhea2ARX CL E G H170302300215Lissencephaly 2, X-linked300215C1846171OMIM19846618060300382
HP:0002014HP:0002014Diarrhea2ATP8B1 CL E G H5205211600Progressive intrahepatic cholestasis211600C0268312OMIM11403613706602397
HP:0002014HP:0002014Diarrhea2AVP CL E G H55130925ORPHA18369894192340
HP:0002014HP:0002014Diarrhea2BLM CL E G H641125ORPHA113115161058604610
HP:0002014HP:0002014Diarrhea2BLNK CL E G H2976033110ORPHA139114211604515
HP:0002014HP:0002014Diarrhea2BLNK CL E G H29760613502Agammaglobulinemia 4, autosomal recessive613502C3150752OMIM139114211604515
HP:0002014HP:0002014Diarrhea2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12483711122609019
HP:0002014HP:0002014Diarrhea2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM19104211133300300
HP:0002014HP:0002014Diarrhea2BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104211133300300
HP:0002014HP:0002014Diarrhea2CARMIL2 CL E G H146206618131IMMUNODEFICIENCY 58618131CN253926OMIM185627089610859
HP:0002014HP:0002014Diarrhea2CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1101961633107265
HP:0002014HP:0002014Diarrhea2CD3D CL E G H915615617Immunodeficiency 19615617C3810147OMIM15811673186790
HP:0002014HP:0002014Diarrhea2CD40LG CL E G H959308230Immunodeficiency with hyper IgM type 1308230C0398689OMIM124127811935300386
HP:0002014HP:0002014Diarrhea2CD55 CL E G H1604226300Protein-losing enteropathy226300C0033680OMIM125322665125240
HP:0002014HP:0002014Diarrhea2CD79A CL E G H97333110ORPHA18531698112205
HP:0002014HP:0002014Diarrhea2CD79A CL E G H973613501Agammaglobulinemia 3, autosomal recessive613501C3150751OMIM18531698112205
HP:0002014HP:0002014Diarrhea2CD79B CL E G H97433110ORPHA13511699147245
HP:0002014HP:0002014Diarrhea2CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM13511699147245
HP:0002014HP:0002014Diarrhea2CDKN1A CL E G H1026652AmebiasisORPHA18141784116899
HP:0002014HP:0002014Diarrhea2CDKN1B CL E G H1027276152ORPHA1254161785600778
HP:0002014HP:0002014Diarrhea2CDKN1B CL E G H1027652AmebiasisORPHA1254161785600778
HP:0002014HP:0002014Diarrhea2CDKN2B CL E G H1030652AmebiasisORPHA114931788600431
HP:0002014HP:0002014Diarrhea2CDKN2C CL E G H1031652AmebiasisORPHA12161789603369
HP:0002014HP:0002014Diarrhea2CPOX CL E G H1371121300Hereditary coproporphyria121300C0162531OMIM1731362321612732
HP:0002014HP:0002014Diarrhea2CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM1532392328600528
HP:0002014HP:0002014Diarrhea2CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1192332336120650
HP:0002014HP:0002014Diarrhea2CTLA4 CL E G H1493616100Autoimmune lymphoproliferatiVe syndrome, type V616100C4015214OMIM1721142505123890
HP:0002014HP:0002014Diarrhea2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11163032605606530
HP:0002014HP:0002014Diarrhea2CYP7B1 CL E G H9420613812Bile acid synthesis defect, congenital, 3613812C3151147OMIM1631992652603711
HP:0002014HP:0002014Diarrhea2DCLRE1C CL E G H64421603554Histiocytic medullary reticulosis603554C1801959OMIM19131817642605988
HP:0002014HP:0002014Diarrhea2DCLRE1C CL E G H64421602450Severe combined immunodeficiency with sensitivity to ionizing radiation602450C1865370OMIM19131817642605988
HP:0002014HP:0002014Diarrhea2DDC CL E G H1644608643Deficiency of aromatic-L-amino-acid decarboxylase608643C1291564OMIM1591162719107930
HP:0002014HP:0002014Diarrhea2DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM11264942770125660
HP:0002014HP:0002014Diarrhea2DGAT1 CL E G H8694615863Diarrhea 7615863C4014516OMIM112872843604900
HP:0002014HP:0002014Diarrhea2DNMT3B CL E G H1789242860Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency242860C0398788OMIM1572672979602900
HP:0002014HP:0002014Diarrhea2EFL1 CL E G H79631617941SHWACHMAN-DIAMOND SYNDROME 2617941CN244554OMIM135725789617538
HP:0002014HP:0002014Diarrhea2EGFR CL E G H1956616069Inflammatory skin and bowel disease, neonatal, 2616069C4015130OMIM1285833236131550
HP:0002014HP:0002014Diarrhea2ELP1 CL E G H8518223900Familial dysautonomia223900C0013364OMIM166605959603722
HP:0002014HP:0002014Diarrhea2ETHE1 CL E G H2347451188ORPHA13712723287608451
HP:0002014HP:0002014Diarrhea2FOXP3 CL E G H50943304790Insulin-dependent diabetes mellitus secretory diarrhea syndrome304790C0342288OMIM11082566106300292
HP:0002014HP:0002014Diarrhea2GALT CL E G H2592230400Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase230400C0268151OMIM13375554135606999
HP:0002014HP:0002014Diarrhea2GINS1 CL E G H9837617827IMMUNODEFICIENCY 55617827CN737162OMIM143728980610608
HP:0002014HP:0002014Diarrhea2GLA CL E G H2717301500Fabry disease301500C0002986OMIM19667284296300644
HP:0002014HP:0002014Diarrhea2GNS CL E G H2799252940Mucopolysaccharidosis, MPS-III-D252940C0086650OMIM1251464422607664
HP:0002014HP:0002014Diarrhea2GUCY2C CL E G H2984614616Diarrhea 6614616C3553270OMIM110894688601330
HP:0002014HP:0002014Diarrhea2HADH CL E G H303371212ORPHA126944799601609
HP:0002014HP:0002014Diarrhea2HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0002014HP:0002014Diarrhea2HLA-B CL E G H310636426ORPHA153174932142830
HP:0002014HP:0002014Diarrhea2HMBS CL E G H3145176000Acute intermittent porphyria176000C0162565OMIM14232104982609806
HP:0002014HP:0002014Diarrhea2HMGCS2 CL E G H3158605911mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency605911C2751532OMIM1331275008600234
HP:0002014HP:0002014Diarrhea2HNF1A CL E G H6927324575ORPHA153934311621142410
HP:0002014HP:0002014Diarrhea2HNF4A CL E G H3172263455Hyperinsulinism due to HNF4A deficiencyCN202290ORPHA11572835024600281
HP:0002014HP:0002014Diarrhea2HSD3B7 CL E G H80270607765Bile acid synthesis defect, congenital, 1607765C1843116OMIM1269618324607764
HP:0002014HP:0002014Diarrhea2HYOU1 CL E G H10525233600Granulocytopenia with immunoglobulin abnormality233600C1856263OMIM124716931601746
HP:0002014HP:0002014Diarrhea2ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161085351604558
HP:0002014HP:0002014Diarrhea2ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161085351604558
HP:0002014HP:0002014Diarrhea2IDS CL E G H3423309900Mucopolysaccharidosis, MPS-II309900C0026705OMIM16404245389300823
HP:0002014HP:0002014Diarrhea2IFNGR1 CL E G H3459209950Disseminated atypical mycobacterial infection209950C0694566OMIM1501695439107470
HP:0002014HP:0002014Diarrhea2IGHM CL E G H350733110ORPHA117815541147020
HP:0002014HP:0002014Diarrhea2IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM117815541147020
HP:0002014HP:0002014Diarrhea2IGLL1 CL E G H354333110ORPHA131865870146770
HP:0002014HP:0002014Diarrhea2IKZF1 CL E G H1032036426ORPHA1384213176603023
HP:0002014HP:0002014Diarrhea2IL7R CL E G H3575608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM1592406024146661
HP:0002014HP:0002014Diarrhea2JAK3 CL E G H3718600802Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative600802C1833275OMIM1833416193600173
HP:0002014HP:0002014Diarrhea2KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701766255600359
HP:0002014HP:0002014Diarrhea2KCNJ11 CL E G H3767276580ORPHA11872276257600937
HP:0002014HP:0002014Diarrhea2LCK CL E G H3932615758Immunodeficiency 22615758C4014233OMIM13626524153390
HP:0002014HP:0002014Diarrhea2LCT CL E G H3938223000Congenital lactase deficiency223000C0268179OMIM1301406530603202
HP:0002014HP:0002014Diarrhea2LIPA CL E G H398875234Cholesteryl ester storage diseaseC0008384ORPHA1962466617613497
HP:0002014HP:0002014Diarrhea2LIPA CL E G H3988278000Lysosomal acid lipase deficiency278000C0043208OMIM1962466617613497
HP:0002014HP:0002014Diarrhea2LRRC8A CL E G H5626233110ORPHA137419027608360
HP:0002014HP:0002014Diarrhea2MCM6 CL E G H4175223100Nonpersistence of intestinal lactase223100C0268181OMIM12236949601806
HP:0002014HP:0002014Diarrhea2MEFV CL E G H4210342ORPHA11895616998608107
HP:0002014HP:0002014Diarrhea2MEN1 CL E G H4221652AmebiasisORPHA174811317010613733
HP:0002014HP:0002014Diarrhea2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM174811317010613733
HP:0002014HP:0002014Diarrhea2MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM1392377150606761
HP:0002014HP:0002014Diarrhea2MPI CL E G H4351602579Congenital disorder of glycosylation type 1B602579C1865145OMIM1211747216154550
HP:0002014HP:0002014Diarrhea2MPV17 CL E G H4358256810Navajo neurohepatopathy256810C1850406OMIM1501247224137960
HP:0002014HP:0002014Diarrhea2MVK CL E G H4598343ORPHA11832777530251170
HP:0002014HP:0002014Diarrhea2MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11832777530251170
HP:0002014HP:0002014Diarrhea2MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM11832777530251170
HP:0002014HP:0002014Diarrhea2MYO5B CL E G H46452290ORPHA1814197603606540
HP:0002014HP:0002014Diarrhea2NAGLU CL E G H4669252920Mucopolysaccharidosis, MPS-III-B252920C0086648OMIM11762847632609701
HP:0002014HP:0002014Diarrhea2NBN CL E G H4683251260Microcephaly, normal intelligence and immunodeficiency251260C0398791OMIM114820457652602667
HP:0002014HP:0002014Diarrhea2NCF4 CL E G H4689613960Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III613960C3151409OMIM1131197662601488
HP:0002014HP:0002014Diarrhea2NEUROG3 CL E G H5067483620ORPHA1102213806604882
HP:0002014HP:0002014Diarrhea2NEUROG3 CL E G H50674610370Diarrhea 4, malabsorptive, congenital610370C1835888OMIM1102213806604882
HP:0002014HP:0002014Diarrhea2NHLRC2 CL E G H374354618278618278618278OMIM1228247310
HP:0002014HP:0002014Diarrhea2NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11137849156490
HP:0002014HP:0002014Diarrhea2NR3C2 CL E G H4306177735Pseudohypoaldosteronism type 1 autosomal dominant177735C1449842OMIM1762057979600983
HP:0002014HP:0002014Diarrhea2OPLAH CL E G H268732600055-Oxoprolinase deficiency260005C0268525OMIM1281278149614243
HP:0002014HP:0002014Diarrhea2PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM1491378743162150
HP:0002014HP:0002014Diarrhea2PHKB CL E G H5257261750Glycogen storage disease IXb261750C0543514OMIM1262358927172490
HP:0002014HP:0002014Diarrhea2PIGT CL E G H51604615399Paroxysmal nocturnal hemoglobinuria 2615399C3809369OMIM1127214938610272
HP:0002014HP:0002014Diarrhea2PIK3R1 CL E G H529533110ORPHA1291568979171833
HP:0002014HP:0002014Diarrhea2PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM11293639115601785
HP:0002014HP:0002014Diarrhea2POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM121829173312040
HP:0002014HP:0002014Diarrhea2POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA130011969179174763
HP:0002014HP:0002014Diarrhea2PTPRC CL E G H5788608971Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive608971C1837028OMIM182259666151460
HP:0002014HP:0002014Diarrhea2RAG1 CL E G H5896603554Histiocytic medullary reticulosis603554C1801959OMIM11873349831179615
HP:0002014HP:0002014Diarrhea2RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11873349831179615
HP:0002014HP:0002014Diarrhea2RAG2 CL E G H5897603554Histiocytic medullary reticulosis603554C1801959OMIM1841759832179616
HP:0002014HP:0002014Diarrhea2RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1841759832179616
HP:0002014HP:0002014Diarrhea2RECQL4 CL E G H9401266280Rapadilino syndrome266280C1849453OMIM112220289949603780
HP:0002014HP:0002014Diarrhea2RET CL E G H5979162300Multiple endocrine neoplasia, type 2b162300C0025269OMIM143214969967164761
HP:0002014HP:0002014Diarrhea2RFX6 CL E G H222546615710Mitchell-Riley syndrome615710C2748662OMIM1327121478612659
HP:0002014HP:0002014Diarrhea2RIPK1 CL E G H8737618108IMMUNODEFICIENCY 57618108CN253831OMIM146310019603453
HP:0002014HP:0002014Diarrhea2RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA14321617296604712
HP:0002014HP:0002014Diarrhea2SAR1B CL E G H51128246700Chylomicron retention disease246700C0795956OMIM1163710535607690
HP:0002014HP:0002014Diarrhea2SAR1B CL E G H5112871Human granulocytic ehrlichiosisORPHA1163710535607690
HP:0002014HP:0002014Diarrhea2SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12045410583604385
HP:0002014HP:0002014Diarrhea2SCN9A CL E G H6335133020Primary erythromelalgia133020C0014805OMIM1129109210597603415
HP:0002014HP:0002014Diarrhea2SCNN1A CL E G H6337264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM14917110599600228
HP:0002014HP:0002014Diarrhea2SCNN1B CL E G H6338264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM15014510600600760
HP:0002014HP:0002014Diarrhea2SCNN1G CL E G H6340264350Pseudohypoaldosteronism type 1 autosomal recessive264350C1449843OMIM12312110602600761
HP:0002014HP:0002014Diarrhea2SERPING1 CL E G H710100050ORPHA15671881228606860
HP:0002014HP:0002014Diarrhea2SERPING1 CL E G H710106100Hereditary angioedema type 1106100C2717906OMIM15671881228606860
HP:0002014HP:0002014Diarrhea2SGSH CL E G H6448252900Mucopolysaccharidosis, MPS-III-A252900C0086647OMIM114840810818605270
HP:0002014HP:0002014Diarrhea2SI CL E G H6476222900Sucrase-isomaltase deficiency222900C1283620OMIM12521110856609845
HP:0002014HP:0002014Diarrhea2SKIV2L CL E G H6499614602Trichohepatoenteric syndrome 2614602C3281289OMIM13612010898600478
HP:0002014HP:0002014Diarrhea2SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM19018410910600839
HP:0002014HP:0002014Diarrhea2SLC19A2 CL E G H1056049827ORPHA15113710938603941
HP:0002014HP:0002014Diarrhea2SLC26A3 CL E G H1811214700Congenital secretory diarrhea, chloride type214700C0267662OMIM1891503018126650
HP:0002014HP:0002014Diarrhea2SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM15223617129607059
HP:0002014HP:0002014Diarrhea2SLC46A1 CL E G H11323590045ORPHA12316630521611672
HP:0002014HP:0002014Diarrhea2SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM12316630521611672
HP:0002014HP:0002014Diarrhea2SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM16725211065603593
HP:0002014HP:0002014Diarrhea2STAT1 CL E G H6772391487ORPHA113024911362600555
HP:0002014HP:0002014Diarrhea2STX3 CL E G H68092290ORPHA131611438600876
HP:0002014HP:0002014Diarrhea2SUGCT CL E G H79783231690Glutaryl-CoA oxidase deficiency231690C0342873OMIM178416001609187
HP:0002014HP:0002014Diarrhea2TCF3 CL E G H692933110ORPHA159111633147141
HP:0002014HP:0002014Diarrhea2TCN2 CL E G H6948275350Transcobalamin II deficiency275350C0342701OMIM14120811653613441
HP:0002014HP:0002014Diarrhea2TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0002014HP:0002014Diarrhea2TMPRSS15 CL E G H5651226200Enterokinase deficiency226200C0268416OMIM161059490606635
HP:0002014HP:0002014Diarrhea2TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15022818153604907
HP:0002014HP:0002014Diarrhea2TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM138217755606269
HP:0002014HP:0002014Diarrhea2TNFRSF1A CL E G H713232960ORPHA110927911916191190
HP:0002014HP:0002014Diarrhea2TREH CL E G H11181612119alpha, alpha-Trehalase deficiency612119C0268187OMIM123212266275360
HP:0002014HP:0002014Diarrhea2TSHR CL E G H7253424ORPHA116117812373603372
HP:0002014HP:0002014Diarrhea2TSHR CL E G H725399819ORPHA116117812373603372
HP:0002014HP:0002014Diarrhea2TTR CL E G H727685447ORPHA115124012405176300
HP:0002014HP:0002014Diarrhea2TTR CL E G H7276105210Amyloidogenic transthyretin amyloidosis105210C2751492OMIM115124012405176300
HP:0002014HP:0002014Diarrhea2TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA1953813148131222
HP:0002014HP:0002014Diarrhea2UCP2 CL E G H7351276556ORPHA1103612518601693
HP:0002014HP:0002014Diarrhea2ZAP70 CL E G H7535269840Severe combined immunodeficiency, atypical269840C1849236OMIM13018612858176947
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002014HP:0002014Diarrhea0CYP27A1 CL E G H1593909ORPHA01163032605606530
HP:0002014HP:0002014Diarrhea0DNASE1L3 CL E G H177636412ORPHA010312959602244
HP:0002014HP:0002014Diarrhea0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA07473146600423
HP:0002014HP:0002014Diarrhea0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0211173178131242
HP:0002014HP:0002014Diarrhea0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0701913180131244
HP:0002014HP:0002014Diarrhea0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0111194232600837
HP:0002014HP:0002014Diarrhea0IGKC CL E G H3514614102Immunoglobulin kappa light chain deficiency614102C3279824OMIM01155716147200
HP:0002014HP:0002014Diarrhea0MGME1 CL E G H92667352447ORPHA074616205615076
HP:0002014HP:0002014Diarrhea0MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM074616205615076
HP:0002014HP:0002014Diarrhea0MYD88 CL E G H461533226ORPHA07507562602170
HP:0002014HP:0002014Diarrhea0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA03158007602018
HP:0002014HP:0002014Diarrhea0OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM0328825118615712
HP:0002014HP:0002014Diarrhea0RECQL4 CL E G H9401221016ORPHA012220289949603780
HP:0002014HP:0002014Diarrhea0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA043214969967164761
HP:0002014HP:0002014Diarrhea0RNF168 CL E G H165918420741ORPHA0612426661612688
HP:0002014HP:0002014Diarrhea0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA044210725602645
HP:0002014HP:0002014Diarrhea0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA0144810726609907
HP:0002014HP:0002014Diarrhea0SP110 CL E G H343179124ORPHA0121875401604457
HP:0002014HP:0002014Diarrhea0STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM013024911362600555
HP:0002014HP:0002014Diarrhea1CYP27A1 CL E G H1593909ORPHA01163032605606530
HP:0002014HP:0002014Diarrhea1DNASE1L3 CL E G H177636412ORPHA010312959602244
HP:0002014HP:0002014Diarrhea1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA07473146600423
HP:0002014HP:0002014Diarrhea1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0211173178131242
HP:0002014HP:0002014Diarrhea1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0701913180131244
HP:0002014HP:0002014Diarrhea1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0111194232600837
HP:0002014HP:0002014Diarrhea1IGKC CL E G H3514614102Immunoglobulin kappa light chain deficiency614102C3279824OMIM01155716147200
HP:0002014HP:0002014Diarrhea1MGME1 CL E G H92667352447ORPHA074616205615076
HP:0002014HP:0002014Diarrhea1MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM074616205615076
HP:0002014HP:0002014Diarrhea1MYD88 CL E G H461533226ORPHA07507562602170
HP:0002014HP:0002014Diarrhea1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA03158007602018
HP:0002014HP:0002014Diarrhea1OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM0328825118615712
HP:0002014HP:0002014Diarrhea1RECQL4 CL E G H9401221016ORPHA012220289949603780
HP:0002014HP:0002014Diarrhea1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA043214969967164761
HP:0002014HP:0002014Diarrhea1RNF168 CL E G H165918420741ORPHA0612426661612688
HP:0002014HP:0002014Diarrhea1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA044210725602645
HP:0002014HP:0002014Diarrhea1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA0144810726609907
HP:0002014HP:0002014Diarrhea1SP110 CL E G H343179124ORPHA0121875401604457
HP:0002014HP:0002014Diarrhea1STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM013024911362600555
HP:0002014HP:0002014Diarrhea2CYP27A1 CL E G H1593909ORPHA01163032605606530
HP:0002014HP:0002014Diarrhea2DNASE1L3 CL E G H177636412ORPHA010312959602244
HP:0002014HP:0002014Diarrhea2ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA07473146600423
HP:0002014HP:0002014Diarrhea2EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0211173178131242
HP:0002014HP:0002014Diarrhea2EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0701913180131244
HP:0002014HP:0002014Diarrhea2GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0111194232600837
HP:0002014HP:0002014Diarrhea2IGKC CL E G H3514614102Immunoglobulin kappa light chain deficiency614102C3279824OMIM01155716147200
HP:0002014HP:0002014Diarrhea2MGME1 CL E G H92667352447ORPHA074616205615076
HP:0002014HP:0002014Diarrhea2MGME1 CL E G H92667615084Mitochondrial DNA depletion syndrome 11615084C3554462OMIM074616205615076
HP:0002014HP:0002014Diarrhea2MYD88 CL E G H461533226ORPHA07507562602170
HP:0002014HP:0002014Diarrhea2NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA03158007602018
HP:0002014HP:0002014Diarrhea2OTULIN CL E G H90268617099Autoinflammation, panniculitis, and dermatosis syndrome617099C4310614OMIM0328825118615712
HP:0002014HP:0002014Diarrhea2RECQL4 CL E G H9401221016ORPHA012220289949603780
HP:0002014HP:0002014Diarrhea2RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA043214969967164761
HP:0002014HP:0002014Diarrhea2RNF168 CL E G H165918420741ORPHA0612426661612688
HP:0002014HP:0002014Diarrhea2SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA044210725602645
HP:0002014HP:0002014Diarrhea2SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA0144810726609907
HP:0002014HP:0002014Diarrhea2SP110 CL E G H343179124ORPHA0121875401604457
HP:0002014HP:0002014Diarrhea2STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM013024911362600555


Genes (222) :ABCB11 ABCB4 ABCC8 ACSF3 ACTG2 ACVRL1 ADA ADAM17 AGA AIRE AK2 AKR1D1 ALAD ALG3 ALG8 ANTXR2 AP1S1 ARX ATP7A ATP8B1 ATRX AVP B2M BLM BLNK BMPR1A BRCA1 BRCA2 BTD BTK C5 CARMIL2 CASP8 CCDC47 CD19 CD247 CD3D CD40LG CD55 CD79A CD79B CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHD7 CIITA CLMP COG4 COG6 CPOX CPT1A CR2 CTLA4 CYP27A1 CYP7B1 DAXX DCLRE1C DDC DES DGAT1 DNASE1L3 DNMT3B ECE1 EDN3 EDNRB EFL1 EGFR ELP1 ENG EPCAM ERCC2 ETHE1 FOXP3 G6PC GALT GATA6 GDNF GINS1 GLA GNS GUCY2C HADH HEXB HGSNAT HLA-B HMBS HMGCS2 HNF1A HNF4A HPS1 HSD3B7 HYOU1 ICOS IDS IDUA IFNGR1 IGHM IGKC IGLL1 IKBKB IKZF1 IL10RA IL21 IL21R IL2RA IL2RG IL7R ITCH ITGA6 ITGB4 JAK3 KCNJ1 KCNJ11 KIF23 KRAS LCK LCT LIG4 LIPA LRBA LRRC8A MCM6 MEFV MEN1 MGME1 MLYCD MPI MPV17 MVK MYD88 MYO5B NAGLU NBN NCF4 NEUROG3 NHLRC2 NLRC4 NME1 NR3C2 NRTN NSUN2 OPLAH OTULIN PALB2 PALLD PCSK1 PHKB PIGT PIK3R1 PKP1 PLEC PLVAP PMM2 POLA1 POLG PPP2R5D PTPRC RAG1 RAG2 RECQL4 RET RFX5 RFX6 RFXANK RFXAP RIPK1 RMRP RNF113A RNF168 RRM2B SAA1 SAMD9 SAR1B SCN11A SCN9A SCNN1A SCNN1B SCNN1G SDHD SEMA3C SEMA3D SERPING1 SGSH SI SKIV2L SLC10A2 SLC12A1 SLC19A2 SLC26A3 SLC39A4 SLC46A1 SLC5A1 SLC7A7 SLC9A3 SMAD4 SON SP110 SPINT2 STAT1 STX3 SUGCT TCF3 TCN2 TFRC TLK2 TMPRSS15 TNFRSF13B TNFRSF13C TNFRSF1A TP53 TREH TSHR TTC37 TTC7A TTR TYMP UCP2 WAS WIPF1 ZAP70

Diseases (212) :601847 602347 276575 614265 155310 277 102700 208400 240300 33355 235555 100924 601110 608104 228600 609313 300215 211600 30925 125 33110 613502 253260 300755 307200 618131 240500 615617 308230 226300 613501 612692 652 276152 121300 255120 616100 909 213700 613812 603554 602450 608643 601419 615863 36412 242860 388 617941 616069 223900 51188 304790 230400 617827 301500 252940 614616 71212 252930 36426 176000 605911 324575 263455 607765 233600 607594 309900 209950 601495 614102 608971 600802 241200 276580 615758 223000 75234 278000 223100 342 131100 352447 615084 248360 602579 256810 343 260920 610377 33226 2290 252920 251260 613960 83620 610370 618278 256700 177735 260005 617099 600955 261750 615399 212065 301220 298 601457 221016 266280 162300 615710 618108 420741 246700 71 615548 133020 264350 100050 106100 252900 222900 614602 601678 49827 214700 201100 90045 229050 222700 79124 391487 614162 231690 275350 618050 226200 32960 612119 424 99819 85447 105210 276556 269840 39041 2176 304150 100075 314652 1333 47 609536 607271 618268 610163 209920 615237 263501 613489 614576 614699 613217 601675 602473 232200 2255 268800 93473 615592 615767 615207 606367 300400 613385 226730 235 614700 251850 647 616050 158668 618183 603041 616355 300953 85445 617053 100093 613291 37 606824 616868 500150 270420 616740 222470 436252 906 600376 614328 174900 187300 203300 613148 98870 175050 243150 301000
 

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