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

Grandparent Node:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Abnormality of the small intestine (HP:0002244)

Parent Node:
Bowel diverticulosis (HP:0005222)

..Starting node
..Small bowel diverticula (HP:0002256)

Term ID:

2256

Name:

Small bowel diverticula

Synonym:

Definition:

Comments:

Reference:

HP:0002256

Genes and Diseases:

Child Nodes:

........

Jejunal diverticula (HP:0004786)

........

Jejunoileal diverticula (HP:0004799)

........

Duodenal diverticula (HP:0004800)

Sister Nodes:

Colonic diverticula (HP:0002253)

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:0002256	HP:0002256	Small bowel diverticula	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002256	HP:0002256	Small bowel diverticula	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0002256	HP:0002256	Small bowel diverticula	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002256	HP:0002256	Small bowel diverticula	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002256	HP:0002256	Small bowel diverticula	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0002256	HP:0002256	Small bowel diverticula	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0002256	HP:0004800	Duodenal diverticula	1	CL E G H
HP:0002256	HP:0004799	Jejunoileal diverticula	1	CL E G H
HP:0002256	HP:0004786	Jejunal diverticula	1	CL E G H

Genes (5) :ALDH18A1 EFEMP2 ELN FBLN5 LTBP1

Diseases (2) :ORPHA:90348 ORPHA:90349

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