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 perforation (HP:0031368)

..Starting node
..Colon perforation (HP:0031369)

Term ID:

31369

Name:

Colon perforation

Synonym:

Perforation of the colon

Definition:

A hole (perforation) in the wall of the colon.

Comments:

Reference:

HP:0031369

Genes and Diseases:

Child Nodes:

Sister Nodes:

Rectal perforation (HP:0031371)

Small intestinal perforation (HP:0031370)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031369	HP:0031369	Colon perforation	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	37

Genes (1) :GATA6

Diseases (1) :OMIM:600001

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