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 large intestine morphology (HP:0002250)

Grandparent Node:
Gastrointestinal inflammation (HP:0004386)

Parent Node:
Inflammation of the large intestine (HP:0002037)

..Starting node
..Colonic eosinophilia (HP:0031813)

Term ID:

31813

Name:

Colonic eosinophilia

Synonym:

Eosinophilic colitis; Eosinophilic infiltration in the colon

Definition:

An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon.

Comments:

Reference:

HP:0031813

Genes and Diseases:

Child Nodes:

Sister Nodes:

Colitis (HP:0002583)

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:0031813	HP:0031813	Colonic eosinophilia	0	ARPC1B CL E G H	10095	704	OMIM:617718	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0031813	HP:0031813	Colonic eosinophilia	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE	12

Genes (2) :ARPC1B JAK1

Diseases (2) :OMIM:617718 OMIM:618999

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