Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Cortical cataract (HP:0100019)

Parent Node:
Posterior cortical cataract (HP:0010924)

..Starting node
..Dense posterior cortical cataract (HP:0007948)

Term ID:

7948

Name:

Dense posterior cortical cataract

Synonym:

Definition:

A type of posterior cortical cataract characterized by dense lenticular opacities.

Comments:

Reference:

HP:0007948

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007948	HP:0007948	Dense posterior cortical cataract	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88

Genes (1) :OCRL

Diseases (1) :OMIM:309000

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