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:
Colitis (HP:0002583)

Parent Node:
Acute colitis (HP:0100282)

..Starting node
..Enterocolitis (HP:0004387)

Term ID:

4387

Name:

Enterocolitis

Synonym:

Definition:

An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).

Comments:

Reference:

HP:0004387

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004387	HP:0004387	Enterocolitis	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0004387	HP:0004387	Enterocolitis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004387	HP:0004387	Enterocolitis	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040284 - Very rare	79
HP:0004387	HP:0004387	Enterocolitis	0	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0004387	HP:0004387	Enterocolitis	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0004387	HP:0004387	Enterocolitis	0	IL10RB CL E G H	3588	5965	OMIM:612567	INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25		29
HP:0004387	HP:0004387	Enterocolitis	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0004387	HP:0004387	Enterocolitis	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC		30
HP:0004387	HP:0004387	Enterocolitis	0	OPLAH CL E G H	26873	8149	OMIM:260005	5-@oxoprolinase deficiency	.	5
HP:0004387	HP:0004387	Enterocolitis	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2
HP:0004387	HP:0004387	Enterocolitis	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97		2
HP:0004387	HP:0004387	Enterocolitis	0	PLCG2 CL E G H	5336	9066	OMIM:614878	Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated		21
HP:0004387	HP:0004387	Enterocolitis	0	RET CL E G H	5979	9967	OMIM:142623	Hirschsprung disease, susceptibility to, 1	.	572
HP:0004387	HP:0004387	Enterocolitis	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0004387	HP:0004387	Enterocolitis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0004387	HP:0004387	Enterocolitis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0004387	HP:0004387	Enterocolitis	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0004387	HP:0033165	Necrotizing enterocolitis	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0004387	HP:0033165	Necrotizing enterocolitis	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0004387	HP:0033165	Necrotizing enterocolitis	1	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY		1
HP:0004387	HP:0033165	Necrotizing enterocolitis	1	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2		418
HP:0004387	HP:0033165	Necrotizing enterocolitis	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6		2

Genes (17) :ACADVL DEF6 ELANE FCN3 IL10RA IL10RB MYH11 NLRC4 OPLAH PIGY PIK3CG PLCG2 RET SLC37A4 STAT1 TOM1 TTC7A

Diseases (16) :OMIM:201475 OMIM:619573 ORPHA:2686 OMIM:613860 OMIM:613148 OMIM:612567 OMIM:619350 OMIM:616050 OMIM:260005 OMIM:616809 OMIM:619802 OMIM:614878 OMIM:142623 ORPHA:79259 ORPHA:391487 OMIM:243150

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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