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
..Aculeiform cataract (HP:0010926)

Term ID:

10926

Name:

Aculeiform cataract

Synonym:

Fasciculiform cataract; Frosted cataract; Needle-shaped cataract

Definition:

A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.

Comments:

Reference:

HP:0010926

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diffuse nuclear cataract (HP:0007657)

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	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010926	HP:0010926	Aculeiform cataract	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	11

Genes (1) :CRYGC

Diseases (1) :OMIM:604307

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

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