Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0100633	Esophagitis	1	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0002037	Inflammation of the large intestine	1	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:4000055	Intestinal inflammation	1	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0100280	Crohn's disease	1	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0002583	Colitis	2	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0031813	Colonic eosinophilia	2	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0004387	Enterocolitis	3	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0033256	Pancolitis	3	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0100281	Chronic colitis	3	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0033164	Focal active colitis	3	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0100282	Acute colitis	3	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0100279	Ulcerative colitis	4	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	PLG CL E G H	5340	97231	ORPHA	1	297	9071	173350
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0004386	Gastrointestinal inflammation	0	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0100633	Esophagitis	1	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0002037	Inflammation of the large intestine	1	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:4000055	Intestinal inflammation	1	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0100280	Crohn's disease	1	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0100633	Esophagitis	1	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0002037	Inflammation of the large intestine	1	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:4000055	Intestinal inflammation	1	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0100280	Crohn's disease	1	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0100633	Esophagitis	1	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0002037	Inflammation of the large intestine	1	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:4000055	Intestinal inflammation	1	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0100280	Crohn's disease	1	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0100633	Esophagitis	1	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0002037	Inflammation of the large intestine	1	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:4000055	Intestinal inflammation	1	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0100280	Crohn's disease	1	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0100633	Esophagitis	1	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0002037	Inflammation of the large intestine	1	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:4000055	Intestinal inflammation	1	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0100280	Crohn's disease	1	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0100633	Esophagitis	1	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0002037	Inflammation of the large intestine	1	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:4000055	Intestinal inflammation	1	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0100280	Crohn's disease	1	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0100633	Esophagitis	1	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0002037	Inflammation of the large intestine	1	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:4000055	Intestinal inflammation	1	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0100280	Crohn's disease	1	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0100633	Esophagitis	1	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0002037	Inflammation of the large intestine	1	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:4000055	Intestinal inflammation	1	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0100280	Crohn's disease	1	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0002583	Colitis	2	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0031813	Colonic eosinophilia	2	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0002583	Colitis	2	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0031813	Colonic eosinophilia	2	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0031813	Colonic eosinophilia	2	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0002583	Colitis	2	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0031813	Colonic eosinophilia	2	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0002583	Colitis	2	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0031813	Colonic eosinophilia	2	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0002583	Colitis	2	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0002583	Colitis	2	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0031813	Colonic eosinophilia	2	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0002583	Colitis	2	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0031813	Colonic eosinophilia	2	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0002583	Colitis	2	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0031813	Colonic eosinophilia	2	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0410152	Eosinophilic microabscess formation in the esophagus	2	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0410151	Eosinophilic infiltration of the esophagus	2	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0004387	Enterocolitis	3	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0033256	Pancolitis	3	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0100281	Chronic colitis	3	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0033164	Focal active colitis	3	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0100282	Acute colitis	3	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0004387	Enterocolitis	3	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0033256	Pancolitis	3	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0100281	Chronic colitis	3	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0033164	Focal active colitis	3	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0100282	Acute colitis	3	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0004387	Enterocolitis	3	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0033256	Pancolitis	3	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0100281	Chronic colitis	3	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0033164	Focal active colitis	3	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0100282	Acute colitis	3	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0004387	Enterocolitis	3	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0033256	Pancolitis	3	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0033164	Focal active colitis	3	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0100281	Chronic colitis	3	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0100282	Acute colitis	3	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0004387	Enterocolitis	3	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0033256	Pancolitis	3	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0100281	Chronic colitis	3	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0033164	Focal active colitis	3	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0100282	Acute colitis	3	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0004387	Enterocolitis	3	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0033256	Pancolitis	3	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0100281	Chronic colitis	3	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0033164	Focal active colitis	3	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0100282	Acute colitis	3	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0004387	Enterocolitis	3	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0033256	Pancolitis	3	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0100281	Chronic colitis	3	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0033164	Focal active colitis	3	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0100282	Acute colitis	3	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0004387	Enterocolitis	3	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0033256	Pancolitis	3	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0100281	Chronic colitis	3	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0033164	Focal active colitis	3	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0100282	Acute colitis	3	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0100279	Ulcerative colitis	4	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	IL12A CL E G H	3592	186	ORPHA	0	34	5969	161560
HP:0004386	HP:0100279	Ulcerative colitis	4	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	IL12RB1 CL E G H	3594	186	ORPHA	0	465	5971	601604
HP:0004386	HP:0100279	Ulcerative colitis	4	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	IRF5 CL E G H	3663	186	ORPHA	0	65	6120	607218
HP:0004386	HP:0100279	Ulcerative colitis	4	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	MMEL1 CL E G H	79258	186	ORPHA	0	181	14668	618104
HP:0004386	HP:0100279	Ulcerative colitis	4	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	POU2AF1 CL E G H	5450	186	ORPHA	0	39	9211	601206
HP:0004386	HP:0100279	Ulcerative colitis	4	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	SPIB CL E G H	6689	186	ORPHA	0	34	11242	606802
HP:0004386	HP:0100279	Ulcerative colitis	4	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	TNFSF15 CL E G H	9966	186	ORPHA	0	50	11931	604052
HP:0004386	HP:0100279	Ulcerative colitis	4	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032
HP:0004386	HP:0033165	Necrotizing enterocolitis	4	TNPO3 CL E G H	23534	186	ORPHA	0	575	17103	610032