Human Phenotype Ontology 
Grandparent Node:
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Abnormal lens morphology (HP:0000517)help
Parent Node:
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Ectopia lentis (HP:0001083)help
..Starting node
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Lens subluxation (HP:0001132)help
Term ID: 1132
Name: Lens subluxation
Synonym: Partially dislocated lens
Definition: Partial dislocation of the lens of the eye.
Comments:
Reference: HP:0001132
Genes and Diseases:
 
       Child Nodes:
........expandSuperior lens subluxation (HP:0008019) help
........expandInferior lens subluxation (HP:0008494) help

 Sister Nodes: 
..expandLens luxation (HP:0012019) 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:0001132HP:0001132Lens subluxation0BAP1 CL E G H8314950ORPHA:39044Uveal melanoma184
HP:0001132HP:0001132Lens subluxation0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency242
HP:0001132HP:0001132Lens subluxation0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA.9
HP:0001132HP:0001132Lens subluxation0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0001132HP:0001132Lens subluxation0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040283 - Occasional284
HP:0001132HP:0001132Lens subluxation0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanoma1
HP:0001132HP:0001132Lens subluxation0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0001132HP:0001132Lens subluxation0GNA11 CL E G H27674379ORPHA:39044Uveal melanoma16
HP:0001132HP:0001132Lens subluxation0GNAQ CL E G H27764390ORPHA:39044Uveal melanoma7
HP:0001132HP:0001132Lens subluxation0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0001132HP:0001132Lens subluxation0P3H2 CL E G H5521419317OMIM:614292Myopia, high, with cataract and vitreoretinal degenerationHP:0040283 - Occasional5
HP:0001132HP:0001132Lens subluxation0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040283 - Occasional11
HP:0001132HP:0001132Lens subluxation0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0001132HP:0001132Lens subluxation0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanoma19
HP:0001132HP:0008019Superior lens subluxation1 CL E G H
HP:0001132HP:0008494Inferior lens subluxation1BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040283 - Occasional184
HP:0001132HP:0008494Inferior lens subluxation1CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040283 - Occasional1
HP:0001132HP:0008494Inferior lens subluxation1GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040283 - Occasional16
HP:0001132HP:0008494Inferior lens subluxation1GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040283 - Occasional7
HP:0001132HP:0008494Inferior lens subluxation1SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040283 - Occasional19


Genes (14) :BAP1 CBS CHRDL1 COL18A1 COL2A1 CYSLTR2 ELP4 GNA11 GNAQ LOXL1 P3H2 PCYT1A SALL2 SF3B1

Diseases (10) :ORPHA:39044 OMIM:236200 OMIM:309300 OMIM:267750 ORPHA:93296 OMIM:617141 OMIM:177650 OMIM:614292 ORPHA:85167 OMIM:216820
 

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