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:
Punctate cataract (HP:0007648)

Parent Node:
Pulverulent cataract (HP:0010693)

..Starting node
..Cortical pulverulent cataract (HP:0007780)

Term ID:

7780

Name:

Cortical pulverulent cataract

Synonym:

Cataracts, cortical pulverulent

Definition:

A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens.

Comments:

Reference:

HP:0007780

Genes and Diseases:

Child Nodes:

Sister Nodes:

Nuclear pulverulent cataract (HP:0010698)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007780	HP:0007780	Cortical pulverulent cataract	0	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0007780	HP:0007780	Cortical pulverulent cataract	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	.	HP:0003621 - Juvenile onset	21

Genes (2) :LIM2 MAF

Diseases (2) :OMIM:615277 OMIM:610202

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