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
..Posterior uveitis (HP:0012123)

Term ID:

12123

Name:

Posterior uveitis

Synonym:

Choroiditis

Definition:

Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid.

Comments:

Reference:

HP:0012123

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior uveitis (HP:0012122)

Intermediate uveitis (HP:0012124)

Nongranulomatous uveitis (HP:0007813)

Panuveitis (HP:0012121)

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:0012123	HP:0012123	Posterior uveitis	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	18
HP:0012123	HP:0012123	Posterior uveitis	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0012123	HP:0012123	Posterior uveitis	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	184
HP:0012123	HP:0012123	Posterior uveitis	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	7
HP:0012123	HP:0012123	Posterior uveitis	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional	6
HP:0012123	HP:0012123	Posterior uveitis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040281 - Very frequent	187

Genes (6) :BCL10 BIRC3 FOXP1 IGH MALT1 NOD2

Diseases (2) :ORPHA:52417 ORPHA:90340

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