Human Phenotype Ontology 
Grandparent Node:
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Abnormality of immune system physiology (HP:0010978)help
Parent Node:
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Functional abnormality of the gastrointestinal tract (HP:0012719)help
Parent Node:
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Recurrent infections (HP:0002719)help
..Starting node
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Recurrent infection of the gastrointestinal tract (HP:0004798)help
Term ID: 4798
Name: Recurrent infection of the gastrointestinal tract
Synonym: Gastrointestinal infections; Gastrointestinal infections, recurrent; Recurrent gastrointestinal infections; Recurrent infection of the gastrointestinal tract; Recurrent infection of the GI tract
Definition: Recurrent infection of the gastrointestinal tract.
Comments:
Reference: HP:0004798
Genes and Diseases:
 
       Child Nodes:
........expandHelicobacter pylori infection (HP:0005202) help
........expandFrequent Giardia lamblia infestation (HP:0005215) help
........expandRecurrent gastroenteritis (HP:0031123) help

 Sister Nodes: 
..expandFailure to thrive secondary to recurrent infections (HP:0008866) help
..expandRecurrent abscess formation (HP:0002722) help
..expandRecurrent bacterial infections (HP:0002718) help
..expandRecurrent ear infections (HP:0410018) help
..expandRecurrent fungal infections (HP:0002841) help
..expandRecurrent infections in infancy and early childhood (HP:0005437) help
..expandRecurrent infections of the middle ear (HP:0040268) help
..expandRecurrent opportunistic infections (HP:0005390) help
..expandRecurrent otitis media (HP:0000403) help
..expandRecurrent parasitic infections (HP:0030885) help
..expandRecurrent protozoan infections (HP:0005386) help
..expandRecurrent respiratory infections (HP:0002205) help
..expandRecurrent urinary tract infections (HP:0000010) help
..expandRecurrent viral infections (HP:0004429) 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:0004798HP:0004798Recurrent infection of the gastrointestinal tract0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel disease2
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0AICDA CL E G H5737913203OMIM:605258Immunodeficiency with hyper-igm, type 2.58
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0CD3E CL E G H9161674OMIM:615615Immunodeficiency 1824
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0CD3G CL E G H9171675OMIM:615607Immunodeficiency 1719
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0CIITA CL E G H42617067ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040281 - Very frequent118
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040283 - Occasional67
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIjHP:0040283 - Occasional67
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0CORIN CL E G H1069919012ORPHA:275555Preeclampsia5
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiency94
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel disease257
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0FLT1 CL E G H23213763ORPHA:275555Preeclampsia11
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome32
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0IFNGR1 CL E G H34595439OMIM:600263Helicobacter pylori infection, susceptibility to60
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0IL21R CL E G H506156006OMIM:615207IMMUNODEFICIENCY 56; IMD567
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0IRF9 CL E G H103796131OMIM:618648IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0JAK3 CL E G H37186193ORPHA:35078T-B+ severe combined immunodeficiency due to JAK3 deficiencyHP:0040283 - Occasional140
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0NBN CL E G H46837652OMIM:251260Nijmegen breakage syndrome.706
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0NFKBIA CL E G H47927797OMIM:612132ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT.27
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0RFX5 CL E G H59939986ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040281 - Very frequent38
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0RFXANK CL E G H86259987ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040281 - Very frequent26
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0RFXAP CL E G H59949988ORPHA:572Immunodeficiency by defective expression of MHC class IIHP:0040281 - Very frequent34
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndrome49
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0STOX1 CL E G H21973623508ORPHA:275555Preeclampsia2
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0TNFRSF13B CL E G H2349518153OMIM:609529Immunoglobulin A deficiency 2.32
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0004798HP:0004798Recurrent infection of the gastrointestinal tract0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040282 - Frequent46
HP:0004798HP:0031123Recurrent gastroenteritis1ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent2
HP:0004798HP:0031123Recurrent gastroenteritis1ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0004798HP:0031123Recurrent gastroenteritis1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0004798HP:0005202Helicobacter pylori infection1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0004798HP:0031123Recurrent gastroenteritis1CD3E CL E G H9161674OMIM:615615Immunodeficiency 18.24
HP:0004798HP:0031123Recurrent gastroenteritis1CD3G CL E G H9171675OMIM:615607Immunodeficiency 17.19
HP:0004798HP:0005202Helicobacter pylori infection1CORIN CL E G H1069919012ORPHA:275555PreeclampsiaHP:0040284 - Very rare5
HP:0004798HP:0031123Recurrent gastroenteritis1DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0004798HP:0031123Recurrent gastroenteritis1EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent257
HP:0004798HP:0005202Helicobacter pylori infection1FLT1 CL E G H23213763ORPHA:275555PreeclampsiaHP:0040284 - Very rare11
HP:0004798HP:0031123Recurrent gastroenteritis1FOXP3 CL E G H509436106ORPHA:37042Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndromeHP:0040283 - Occasional32
HP:0004798HP:0005202Helicobacter pylori infection1IFNGR1 CL E G H34595439OMIM:600263Helicobacter pylori infection, susceptibility to.60
HP:0004798HP:0031123Recurrent gastroenteritis1IRF9 CL E G H103796131OMIM:618648IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0004798HP:0031123Recurrent gastroenteritis1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0004798HP:0031123Recurrent gastroenteritis1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0004798HP:0005215Frequent Giardia lamblia infestation1NFKB2 CL E G H47917795OMIM:615577Immunodeficiency, common variable, 1011
HP:0004798HP:0005215Frequent Giardia lamblia infestation1SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0004798HP:0031123Recurrent gastroenteritis1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0004798HP:0031123Recurrent gastroenteritis1SP110 CL E G H34315401ORPHA:79124Hepatic veno-occlusive disease-immunodeficiency syndromeHP:0040282 - Frequent49
HP:0004798HP:0005202Helicobacter pylori infection1STOX1 CL E G H21973623508ORPHA:275555PreeclampsiaHP:0040284 - Very rare2
HP:0004798HP:0031123Recurrent gastroenteritis1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040282 - Frequent1


Genes (37) :ADAM17 ADAT3 AICDA BLM CARMIL2 CD3E CD3G CIITA CLPB COG4 CORIN DCLRE1C EGFR ELANE FLT1 FOXP3 GFI1 IFNGR1 IL21R IRF9 JAK3 MAN2B1 NBN NFKB2 NFKBIA RFX5 RFXANK RFXAP SH3KBP1 SLC35C1 SP110 SRP54 STOX1 TCIRG1 TNFRSF13B VPS33A ZAP70

Diseases (29) :ORPHA:294023 ORPHA:363528 OMIM:605258 ORPHA:125 OMIM:618131 OMIM:615615 OMIM:615607 ORPHA:572 ORPHA:486 ORPHA:263501 OMIM:613489 ORPHA:275555 ORPHA:275 ORPHA:37042 OMIM:600263 OMIM:615207 OMIM:618648 ORPHA:35078 ORPHA:309288 ORPHA:309282 OMIM:251260 OMIM:615577 OMIM:612132 OMIM:300310 ORPHA:99843 ORPHA:79124 OMIM:609529 ORPHA:505248 ORPHA:911
 

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