Human Phenotype Ontology 
Grandparent Node:
expand
Abdominal symptom (HP:0011458)help
Parent Node:
expand
Diarrhea (HP:0002014)help
..Starting node
..expand
Chronic diarrhea (HP:0002028)help
Term ID: 2028
Name: Chronic diarrhea
Synonym: Chronic diarrhea; Chronic diarrhoea; Diarrhea, recurrent; Recurrent diarrhea; Recurrent diarrhoea
Definition: The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Comments:
Reference: HP:0002028
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandBloody diarrhea (HP:0025085) help
..expandIntermittent diarrhea (HP:0002254) help
..expandIntractable diarrhea (HP:0002041) help
..expandProtracted diarrhea (HP:0004385) help
..expandSecretory diarrhea (HP:0005208) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002028HP:0002028Chronic diarrhea0ADA CL E G H100186ORPHA:39041Omenn syndromeHP:0040281 - Very frequent75
HP:0002028HP:0002028Chronic diarrhea0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0002028HP:0002028Chronic diarrhea0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040282 - Frequent58
HP:0002028HP:0002028Chronic diarrhea0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0002028HP:0002028Chronic diarrhea0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040284 - Very rare78
HP:0002028HP:0002028Chronic diarrhea0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002028HP:0002028Chronic diarrhea0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0002028HP:0002028Chronic diarrhea0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0002028HP:0002028Chronic diarrhea0BACH2 CL E G H6046814078OMIM:618394IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002028HP:0002028Chronic diarrhea0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0002028HP:0002028Chronic diarrhea0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0002028HP:0002028Chronic diarrhea0C4B CL E G H7211324OMIM:614379Complement component 4B deficiency1
HP:0002028HP:0002028Chronic diarrhea0CARD8 CL E G H2290017057OMIM:619079INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD301
HP:0002028HP:0002028Chronic diarrhea0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0002028HP:0002028Chronic diarrhea0CASP8 CL E G H8411509OMIM:607271CASPASE 8 DEFICIENCY37
HP:0002028HP:0002028Chronic diarrhea0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndromeHP:0040284 - Very rare
HP:0002028HP:0002028Chronic diarrhea0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0002028HP:0002028Chronic diarrhea0CHD7 CL E G H5563620626ORPHA:39041Omenn syndromeHP:0040281 - Very frequent515
HP:0002028HP:0002028Chronic diarrhea0CLMP CL E G H7982724039OMIM:615237Congenital short bowel syndrome.7
HP:0002028HP:0002028Chronic diarrhea0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0002028HP:0002028Chronic diarrhea0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0002028HP:0002028Chronic diarrhea0CR2 CL E G H13802336OMIM:614699IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID710
HP:0002028HP:0002028Chronic diarrhea0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0002028HP:0002028Chronic diarrhea0DCLRE1C CL E G H6442117642ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0002028HP:0002028Chronic diarrhea0DCLRE1C CL E G H6442117642OMIM:602450Severe combined immunodeficiency with sensitivity to ionizing radiation94
HP:0002028HP:0002028Chronic diarrhea0DNASE2 CL E G H17772960OMIM:619858
HP:0002028HP:0002028Chronic diarrhea0DOCK2 CL E G H17942988OMIM:616433Immunodeficiency 406
HP:0002028HP:0002028Chronic diarrhea0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040281 - Very frequent170
HP:0002028HP:0002028Chronic diarrhea0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0002028HP:0002028Chronic diarrhea0ETHE1 CL E G H2347423287OMIM:602473Encephalopathy, ethylmalonic.42
HP:0002028HP:0002028Chronic diarrhea0FCHO1 CL E G H2314929002OMIM:619164IMMUNODEFICIENCY 76; IMD76
HP:0002028HP:0002028Chronic diarrhea0FOXP3 CL E G H509436106OMIM:304790Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked32
HP:0002028HP:0002028Chronic diarrhea0GUCY2C CL E G H29844688OMIM:614616Diarrhea 612
HP:0002028HP:0002028Chronic diarrhea0HEATR3 CL E G H5502726087OMIM:620072
HP:0002028HP:0002028Chronic diarrhea0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0002028HP:0002028Chronic diarrhea0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0002028HP:0002028Chronic diarrhea0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0002028HP:0002028Chronic diarrhea0IDS CL E G H34235389ORPHA:217085Mucopolysaccharidosis type 2, severe formHP:0040283 - Occasional86
HP:0002028HP:0002028Chronic diarrhea0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040282 - Frequent115
HP:0002028HP:0002028Chronic diarrhea0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive7
HP:0002028HP:0002028Chronic diarrhea0IKBKB CL E G H35515960OMIM:615592Immunodeficiency 15.4
HP:0002028HP:0002028Chronic diarrhea0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0002028HP:0002028Chronic diarrhea0IL2RA CL E G H35596008OMIM:606367IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD4165
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H35616010ORPHA:39041Omenn syndromeHP:0040281 - Very frequent48
HP:0002028HP:0002028Chronic diarrhea0IL2RG CL E G H35616010OMIM:300400Severe combined immunodeficiency, X-linked.48
HP:0002028HP:0002028Chronic diarrhea0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0002028HP:0002028Chronic diarrhea0IL7R CL E G H35756024ORPHA:39041Omenn syndromeHP:0040281 - Very frequent94
HP:0002028HP:0002028Chronic diarrhea0IL7R CL E G H35756024ORPHA:169154T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyHP:0040283 - Occasional94
HP:0002028HP:0002028Chronic diarrhea0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0002028HP:0002028Chronic diarrhea0IRF2BP2 CL E G H35994821729OMIM:617765IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID144
HP:0002028HP:0002028Chronic diarrhea0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0002028HP:0002028Chronic diarrhea0ITGB2 CL E G H36896155OMIM:116920Leukocyte adhesion deficiency, type I114
HP:0002028HP:0002028Chronic diarrhea0JAK3 CL E G H37186193OMIM:600802Scid, autosomal recessive, T-Negative/b-Positive type140
HP:0002028HP:0002028Chronic diarrhea0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040282 - Frequent140
HP:0002028HP:0002028Chronic diarrhea0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040283 - Occasional88
HP:0002028HP:0002028Chronic diarrhea0LIG4 CL E G H39816601ORPHA:39041Omenn syndromeHP:0040281 - Very frequent88
HP:0002028HP:0002028Chronic diarrhea0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0002028HP:0002028Chronic diarrhea0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0002028HP:0002028Chronic diarrhea0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0002028HP:0002028Chronic diarrhea0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0002028HP:0002028Chronic diarrhea0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0002028HP:0002028Chronic diarrhea0MVK CL E G H45987530OMIM:260920Hyper-Igd syndrome150
HP:0002028HP:0002028Chronic diarrhea0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0002028HP:0002028Chronic diarrhea0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040283 - Occasional84
HP:0002028HP:0002028Chronic diarrhea0OTULIN CL E G H9026825118OMIM:617099AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME; AIPDS3
HP:0002028HP:0002028Chronic diarrhea0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040281 - Very frequent
HP:0002028HP:0002028Chronic diarrhea0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0002028HP:0002028Chronic diarrhea0PIK3CD CL E G H52938977OMIM:619281IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B9
HP:0002028HP:0002028Chronic diarrhea0PIK3R1 CL E G H52958979OMIM:616005Immunodeficiency 36HP:0040284 - Very rare43
HP:0002028HP:0002028Chronic diarrhea0PKP1 CL E G H53179023ORPHA:158668Ectodermal dysplasia-skin fragility syndromeHP:0040283 - Occasional107
HP:0002028HP:0002028Chronic diarrhea0POLA1 CL E G H54229173OMIM:301220PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR2
HP:0002028HP:0002028Chronic diarrhea0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0002028HP:0002028Chronic diarrhea0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 35.10
HP:0002028HP:0002028Chronic diarrhea0RAG1 CL E G H58969831ORPHA:39041Omenn syndromeHP:0040281 - Very frequent127
HP:0002028HP:0002028Chronic diarrhea0RAG2 CL E G H58979832ORPHA:39041Omenn syndromeHP:0040281 - Very frequent50
HP:0002028HP:0002028Chronic diarrhea0RBCK1 CL E G H1061615864OMIM:615895Polyglucosan body myopathy 1 with or without immunodeficiency10
HP:0002028HP:0002028Chronic diarrhea0REL CL E G H59669954OMIM:619652IMMUNODEFICIENCY 92; IMD921
HP:0002028HP:0002028Chronic diarrhea0RMRP CL E G H602310031ORPHA:39041Omenn syndromeHP:0040281 - Very frequent37
HP:0002028HP:0002028Chronic diarrhea0RNF113A CL E G H773712974OMIM:300953Trichothiodystrophy 5, nonphotosensitive.3
HP:0002028HP:0002028Chronic diarrhea0SAA1 CL E G H628810513ORPHA:85445AA amyloidosisHP:0040282 - Frequent2
HP:0002028HP:0002028Chronic diarrhea0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0002028HP:0002028Chronic diarrhea0SKIC2 CL E G H649910898OMIM:614602Trichohepatoenteric syndrome 2
HP:0002028HP:0002028Chronic diarrhea0SLC10A2 CL E G H655510906OMIM:613291Bile acid malabsorption, primary6
HP:0002028HP:0002028Chronic diarrhea0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0002028HP:0002028Chronic diarrhea0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040281 - Very frequent55
HP:0002028HP:0002028Chronic diarrhea0SLC51A CL E G H20093129955OMIM:619484CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002028HP:0002028Chronic diarrhea0SLC51B CL E G H12326429956OMIM:619481BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002028HP:0002028Chronic diarrhea0SLC5A1 CL E G H652311036OMIM:606824Glucose/galactose malabsorption.74
HP:0002028HP:0002028Chronic diarrhea0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0002028HP:0002028Chronic diarrhea0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002028HP:0002028Chronic diarrhea0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditaryHP:0040283 - Occasional1
HP:0002028HP:0002028Chronic diarrhea0STX3 CL E G H680911438OMIM:619446RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID1
HP:0002028HP:0002028Chronic diarrhea0TCF3 CL E G H692911633OMIM:619824AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B2
HP:0002028HP:0002028Chronic diarrhea0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0002028HP:0002028Chronic diarrhea0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0002028HP:0002028Chronic diarrhea0TKFC CL E G H2600724552OMIM:618805TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002028HP:0002028Chronic diarrhea0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0002028HP:0002028Chronic diarrhea0TOM1 CL E G H1004311982OMIM:619510IMMUNODEFICIENCY 85 AND AUTOIMMUNITY; IMD85
HP:0002028HP:0002028Chronic diarrhea0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0002028HP:0002028Chronic diarrhea0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent65
HP:0002028HP:0002028Chronic diarrhea0WAS CL E G H745412731OMIM:301000Wiskott-Aldrich syndrome65
HP:0002028HP:0002028Chronic diarrhea0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040281 - Very frequent6
HP:0002028HP:0002028Chronic diarrhea0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040282 - Frequent46


Genes (92) :ADA ALG1 ANTXR2 ASAH1 ATM ATP6AP1 ATP7A BACH2 BTK C4B CARD8 CARMIL2 CASP8 CCDC47 CD3G CHD7 CLMP COG4 COG6 CR2 CYP27A1 DCLRE1C DNASE2 DOCK2 EPCAM ERCC2 ETHE1 FCHO1 FOXP3 GUCY2C HEATR3 HEXB HYOU1 IDS IDUA IGHM IKBKB IL21R IL2RA IL2RG IL6ST IL7R IPO8 IRF2BP2 ITCH ITGB2 JAK3 KMT5B LIG4 LRBA MADD MGME1 MTTP MVK NBN NSUN2 OTULIN PERCC1 PGM1 PIK3CD PIK3R1 PKP1 POLA1 PPP2R5D RAG1 RAG2 RBCK1 REL RMRP RNF113A SAA1 SAMD9 SKIC2 SLC10A2 SLC35C1 SLC39A4 SLC51A SLC51B SLC5A1 SON SREBF1 STX3 TCF3 TERT TFRC TKFC TNFRSF1A TOM1 USP7 WAS WIPF1 ZAP70

Diseases (93) :ORPHA:39041 OMIM:102700 ORPHA:79327 ORPHA:2176 ORPHA:333 OMIM:208900 OMIM:300972 OMIM:304150 OMIM:618394 OMIM:300755 ORPHA:47 OMIM:614379 OMIM:619079 OMIM:618131 OMIM:607271 OMIM:618268 OMIM:615607 OMIM:615237 OMIM:613489 OMIM:614576 OMIM:614699 ORPHA:909 OMIM:602450 OMIM:619858 OMIM:616433 ORPHA:92050 OMIM:601675 OMIM:602473 OMIM:619164 OMIM:304790 OMIM:614616 OMIM:620072 OMIM:268800 OMIM:233600 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:601495 OMIM:615592 OMIM:615207 OMIM:606367 OMIM:300400 OMIM:618523 ORPHA:169154 OMIM:619472 OMIM:617765 OMIM:613385 OMIM:116920 OMIM:600802 ORPHA:35078 OMIM:617788 ORPHA:235 OMIM:614700 OMIM:619004 OMIM:619005 OMIM:615084 ORPHA:14 OMIM:260920 ORPHA:647 OMIM:617099 OMIM:614921 OMIM:619281 OMIM:616005 ORPHA:158668 OMIM:301220 ORPHA:457279 OMIM:616355 OMIM:615895 OMIM:619652 OMIM:300953 ORPHA:85445 OMIM:617053 OMIM:614602 OMIM:613291 ORPHA:99843 ORPHA:37 OMIM:619484 OMIM:619481 OMIM:606824 ORPHA:500150 OMIM:617140 OMIM:158310 OMIM:619446 OMIM:619824 OMIM:613989 OMIM:616740 OMIM:618805 OMIM:142680 OMIM:619510 ORPHA:500055 ORPHA:906 OMIM:301000 ORPHA:911
 

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