Human Gene Set: HP_ECTOPIA_LENTIS


Standard name HP_ECTOPIA_LENTIS
Systematic name M35118
Brief description Ectopia lentis
Full description or abstract Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0001083
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0001083
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
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Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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