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 lens morphology (HP:0000517)

Parent Node:
Cataract (HP:0000518)

..Starting node
..Capsular cataract (HP:0100017)

Term ID:

100017

Name:

Capsular cataract

Synonym:

Definition:

A cataract that affects the capsule of the lens.

Comments:

Reference:

HP:0100017

Genes and Diseases:

Child Nodes:

........

Posterior capsular cataract (HP:0100020)

Sister Nodes:

Age-related cataract (HP:0011141)

Christmas tree cataract (HP:0025571)

Developmental cataract (HP:0000519)

Juvenile cataract (HP:0001118)

Membranous cataract (HP:0010922)

obsolete Total cataract (HP:0010700)

Polar cataract (HP:0010696)

Presenile cataracts (HP:0007819)

Progressive cataract (HP:0007834)

Subcapsular cataract (HP:0000523)

Zonular cataract (HP:0010920)

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:0100017	HP:0100017	Capsular cataract	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy		46
HP:0100017	HP:0100020	Posterior capsular cataract	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040282 - Frequent	46

Genes (1) :CRYAB

Diseases (1) :ORPHA:399058

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