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:
Zonular cataract (HP:0010920)

Parent Node:
Cortical cataract (HP:0100019)

..Starting node
..Anterior cortical cataract (HP:0007795)

Term ID:

7795

Name:

Anterior cortical cataract

Synonym:

Definition:

A cataract that affects the anterior part of the cortex of the lens.

Comments:

Reference:

HP:0007795

Genes and Diseases:

Child Nodes:

Sister Nodes:

Posterior cortical cataract (HP:0010924)

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:0007795	HP:0007795	Anterior cortical cataract	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0007795	HP:0007795	Anterior cortical cataract	0	PAK2 CL E G H	5062	8591	OMIM:618458

Genes (2) :OPA3 PAK2

Diseases (2) :ORPHA:67036 OMIM:618458

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