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:
Intestinal malrotation (HP:0002566)

..Starting node
..Midgut malrotation (HP:0005211)

Term ID:

5211

Name:

Midgut malrotation

Synonym:

Definition:

Comments:

Reference:

HP:0005211

Genes and Diseases:

Child Nodes:

Sister Nodes:

Malrotation of colon (HP:0004785)

Malrotation of small bowel (HP:0004794)

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:0005211	HP:0005211	Midgut malrotation	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0005211	HP:0005211	Midgut malrotation	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2

Genes (2) :DHODH SLC12A2

Diseases (2) :OMIM:263750 OMIM:619080

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