Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Functional abnormality of the gastrointestinal tract (HP:0012719)

Grandparent Node:
Recurrent infections (HP:0002719)

Parent Node:
Recurrent infection of the gastrointestinal tract (HP:0004798)

..Starting node
..Recurrent gastroenteritis (HP:0031123)

Term ID:

31123

Name:

Recurrent gastroenteritis

Synonym:

Definition:

Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis.

Comments:

Reference:

HP:0031123

Genes and Diseases:

Child Nodes:

Sister Nodes:

Frequent Giardia lamblia infestation (HP:0005215)

Helicobacter pylori infection (HP:0005202)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	2
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040283 - Occasional	314
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	CD3E CL E G H	916	1674	OMIM:615615	Immunodeficiency 18	.	24
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	CD3G CL E G H	917	1675	OMIM:615607	Immunodeficiency 17	.	19
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	DCLRE1C CL E G H	64421	17642	ORPHA:275	Severe combined immunodeficiency due to DCLRE1C deficiency	HP:0040283 - Occasional	94
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040282 - Frequent	257
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional	32
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	IRF9 CL E G H	10379	6131	OMIM:618648	IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional	71
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0031123	HP:0031123	Recurrent gastroenteritis	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1

Genes (13) :ADAM17 ADAT3 BLM CD3E CD3G DCLRE1C EGFR FOXP3 IRF9 MAN2B1 SLC35C1 SP110 VPS33A

Diseases (13) :ORPHA:294023 ORPHA:363528 ORPHA:125 OMIM:615615 OMIM:615607 ORPHA:275 ORPHA:37042 OMIM:618648 ORPHA:309288 ORPHA:309282 ORPHA:99843 ORPHA:79124 ORPHA:505248

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

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