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:
Abnormal lens morphology (HP:0000517)

Parent Node:
Abnormality of lens shape (HP:0011526)

..Starting node
..Lentiglobus (HP:0011527)

Term ID:

11527

Name:

Lentiglobus

Synonym:

Bulging of eye lens

Definition:

Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging.

Comments:

Reference:

HP:0011527

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lenticonus (HP:0001142)

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:0011527	HP:0011527	Lentiglobus	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0011527	HP:0011527	Lentiglobus	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0011527	HP:0011527	Lentiglobus	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88

Genes (3) :ERCC6 ERCC8 OCRL

Diseases (2) :ORPHA:90324 ORPHA:534

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