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)

Grandparent Node:
Gastrointestinal duplication (HP:0011140)

Parent Node:
Abnormal large intestine morphology (HP:0002250)

Parent Node:
Intestinal duplication (HP:0100668)

..Starting node
..Duplicated colon (HP:0005223)

Term ID:

5223

Name:

Duplicated colon

Synonym:

Definition:

Comments:

Reference:

HP:0005223

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005223	HP:0005223	Duplicated colon	0	CL E G H

Genes (0) :

Diseases (0) :

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