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 uvea morphology (HP:0000553)

Grandparent Node:
Inflammatory abnormality of the eye (HP:0100533)

Parent Node:
Uveitis (HP:0000554)

..Starting node
..Panuveitis (HP:0012121)

Term ID:

12121

Name:

Panuveitis

Synonym:

Definition:

Inflammation of the uveal tract in which inflammation affects the anterior chamber, vitreous, retina or choroid.

Comments:

Reference:

HP:0012121

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior uveitis (HP:0012122)

Intermediate uveitis (HP:0012124)

Nongranulomatous uveitis (HP:0007813)

Posterior uveitis (HP:0012123)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012121	HP:0012121	Panuveitis	0	IKBKG CL E G H	8517	5961	OMIM:301081	52

Genes (1) :IKBKG

Diseases (1) :OMIM:301081

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