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:
Abnormal large intestine morphology (HP:0002250)

Parent Node:
Intestinal malrotation (HP:0002566)

..Starting node
..Malrotation of colon (HP:0004785)

Term ID:

4785

Name:

Malrotation of colon

Synonym:

Definition:

An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.

Comments:

Reference:

HP:0004785

Genes and Diseases:

Child Nodes:

Sister Nodes:

Malrotation of small bowel (HP:0004794)

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:0004785	HP:0004785	Malrotation of colon	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0004785	HP:0004785	Malrotation of colon	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0004785	HP:0004785	Malrotation of colon	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0004785	HP:0004785	Malrotation of colon	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (4) :FLNB MED12 NIPBL TFAP2A

Diseases (4) :ORPHA:1190 ORPHA:93932 OMIM:122470 OMIM:113620

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