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
..Duodenitis (HP:0033117)

Term ID:

33117

Name:

Duodenitis

Synonym:

Duodenal inflammation

Definition:

Inflammation of the lining of the upper small intestine (duodenum).

Comments:

Reference:

HP:0033117

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:0033117	HP:0033117	Duodenitis	0	ADAM17 CL E G H	6868	195	OMIM:614328	INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1	2
HP:0033117	HP:0033117	Duodenitis	0	CARD8 CL E G H	22900	17057	OMIM:619079	INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30; IBD30	1
HP:0033117	HP:0033117	Duodenitis	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome

Genes (3) :ADAM17 CARD8 IPO8

Diseases (3) :OMIM:614328 OMIM:619079 OMIM:619472

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