Human Phenotype Ontology

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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

..Starting node
..Necrotizing enterocolitis (HP:0033165)

Term ID:

33165

Name:

Necrotizing enterocolitis

Synonym:

Definition:

Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine.

Comments:

Reference:

HP:0033165

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033165	HP:0033165	Necrotizing enterocolitis	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	200
HP:0033165	HP:0033165	Necrotizing enterocolitis	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0033165	HP:0033165	Necrotizing enterocolitis	0	FCN3 CL E G H	8547	3625	OMIM:613860	FICOLIN 3 DEFICIENCY	1
HP:0033165	HP:0033165	Necrotizing enterocolitis	0	MYH11 CL E G H	4629	7569	OMIM:619350	VISCERAL MYOPATHY 2; VSCM2	418
HP:0033165	HP:0033165	Necrotizing enterocolitis	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	2

Genes (5) :ACADVL DEF6 FCN3 MYH11 PIGY

Diseases (5) :OMIM:201475 OMIM:619573 OMIM:613860 OMIM:619350 OMIM:616809

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