Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lens (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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001132HP:0001132Lens subluxation0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12118229861300350
HP:0001132HP:0001132Lens subluxation1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM12118229861300350
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001132HP:0001132Lens subluxation0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM02146111550613381
HP:0001132HP:0001132Lens subluxation0P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM0814319317610341
HP:0001132HP:0001132Lens subluxation0SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM034110526602219
HP:0001132HP:0001132Lens subluxation1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM02146111550613381
HP:0001132HP:0001132Lens subluxation1P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM0814319317610341
HP:0001132HP:0001132Lens subluxation1SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM034110526602219


Genes (9) :BAP1 CBS CHRDL1 CYSLTR2 GNA11 GNAQ P3H2 SALL2 SF3B1

Diseases (5) :236200 309300 614292 216820 39044
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.