Human Phenotype Ontology 
Grandparent Node:
expand
Ectopia lentis (HP:0001083)help
Parent Node:
expand
Lens subluxation (HP:0001132)help
..Starting node
..expand
Inferior lens subluxation (HP:0008494)help
Term ID: 8494
Name: Inferior lens subluxation
Synonym: Inferior subluxated lens
Definition: Partial displacement of the lens in the inferior direction.
Comments:
Reference: HP:0008494
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSuperior lens subluxation (HP:0008019) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008494HP:0008494Inferior lens subluxation0BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040283 - Occasional184
HP:0008494HP:0008494Inferior lens subluxation0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040283 - Occasional1
HP:0008494HP:0008494Inferior lens subluxation0GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040283 - Occasional16
HP:0008494HP:0008494Inferior lens subluxation0GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040283 - Occasional7
HP:0008494HP:0008494Inferior lens subluxation0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040283 - Occasional19


Genes (5) :BAP1 CYSLTR2 GNA11 GNAQ SF3B1

Diseases (1) :ORPHA:39044
 

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