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:
Cataract (HP:0000518)

Parent Node:
Polar cataract (HP:0010696)

..Starting node
..Posterior polar cataract (HP:0001115)

Term ID:

1115

Name:

Posterior polar cataract

Synonym:

Polar cataract, posterior

Definition:

A polar cataract that affects the posterior pole of the lens.

Comments:

Reference:

HP:0001115

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior polar cataract (HP:0001134)

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:0001115	HP:0001115	Posterior polar cataract	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040283 - Occasional	3179
HP:0001115	HP:0001115	Posterior polar cataract	0	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74	.	97
HP:0001115	HP:0001115	Posterior polar cataract	0	CRYAB CL E G H	1410	2389	OMIM:613763	Cataract, posterior polar, 2	.	46
HP:0001115	HP:0001115	Posterior polar cataract	0	EPHA2 CL E G H	1969	3386	OMIM:116600	Cataract, posterior polar, 1 ctpa cataract, congenital total, included		87
HP:0001115	HP:0001115	Posterior polar cataract	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish	.	3
HP:0001115	HP:0001115	Posterior polar cataract	0	PITX3 CL E G H	5309	9006	OMIM:107250	Anterior segment dysgenesis 1		6
HP:0001115	HP:0001115	Posterior polar cataract	0	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types	.	3
HP:0001115	HP:0001115	Posterior polar cataract	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17

Genes (8) :APC BBS2 CRYAB EPHA2 ITM2B PITX3 VIM ZBTB20

Diseases (8) :ORPHA:261584 OMIM:616562 OMIM:613763 OMIM:116600 OMIM:117300 OMIM:107250 OMIM:116300 OMIM:259050

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

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