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:
Abnormality of lens shape (HP:0011526)

Parent Node:
Lenticonus (HP:0001142)

..Starting node
..Posterior lenticonus (HP:0011502)

Term ID:

11502

Name:

Posterior lenticonus

Synonym:

Definition:

A conical projection of the posterior surface of the lens, occurring as a developmental anomaly.

Comments:

Reference:

HP:0011502

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior lenticonus (HP:0011501)

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:0011502	HP:0011502	Posterior lenticonus	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.	92

Genes (1) :LAMB2

Diseases (1) :OMIM:609049

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