Human Phenotype Ontology

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:
Abnormal intestine morphology (HP:0002242)

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

Parent Node:
Intestinal malrotation (HP:0002566)

..Starting node
..Malrotation of small bowel (HP:0004794)

Term ID:

4794

Name:

Malrotation of small bowel

Synonym:

Malrotation of the small intestine

Definition:

A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel.

Comments:

Reference:

HP:0004794

Genes and Diseases:

Child Nodes:

Sister Nodes:

Malrotation of colon (HP:0004785)

Midgut malrotation (HP:0005211)

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:0004794	HP:0004794	Malrotation of small bowel	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	27
HP:0004794	HP:0004794	Malrotation of small bowel	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0004794	HP:0004794	Malrotation of small bowel	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0004794	HP:0004794	Malrotation of small bowel	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040284 - Very rare	13
HP:0004794	HP:0004794	Malrotation of small bowel	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0004794	HP:0004794	Malrotation of small bowel	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0004794	HP:0004794	Malrotation of small bowel	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0004794	HP:0004794	Malrotation of small bowel	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent	4

Genes (8) :CHST14 CPLX1 CTBP1 DSE FGFRL1 LETM1 NSD2 WNT4

Diseases (3) :ORPHA:2953 OMIM:194190 ORPHA:139466

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