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
..Presenile cataracts (HP:0007819)

Term ID:

7819

Name:

Presenile cataracts

Synonym:

Presenile cataract

Definition:

Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual.

Comments:

Reference:

HP:0007819

Genes and Diseases:

Child Nodes:

Sister Nodes:

Age-related cataract (HP:0011141)

Capsular cataract (HP:0100017)

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)

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:0007819	HP:0007819	Presenile cataracts	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0007819	HP:0007819	Presenile cataracts	0	MYH9 CL E G H	4627	7579	ORPHA:182050	MYH9-related disease	HP:0040282 - Frequent	297
HP:0007819	HP:0007819	Presenile cataracts	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.	194

Genes (3) :MTAP MYH9 PAX6

Diseases (3) :OMIM:112250 ORPHA:182050 OMIM:136520

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