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:
Nuclear cataract (HP:0100018)

..Starting node
..Diffuse nuclear cataract (HP:0007657)

Term ID:

7657

Name:

Diffuse nuclear cataract

Synonym:

Definition:

Opacity of the entire lens nucleus.

Comments:

Reference:

HP:0007657

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aculeiform cataract (HP:0010926)

Nuclear punctate cataract (HP:0010925)

obsolete Congenital nuclear cataract (HP:0008024)

Triangular nuclear cataract (HP:0010699)

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:0007657	HP:0007657	Diffuse nuclear cataract	0	VIM CL E G H	7431	12692	OMIM:116300	Cataract 30, multiple types	.	3

Genes (1) :VIM

Diseases (1) :OMIM:116300

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