Human Gene Set: HP_SPHEROPHAKIA


Standard name HP_SPHEROPHAKIA
Systematic name M48900
Brief description Spherophakia
Full description or abstract Spherophakia is a rare congenital condition that presents with weak zonules around a smaller and more spherical crystalline lens with an increased anteroposterior thickness of the lens, and highly myopic eye. The lens zonules are developmentally hypoplastic and abnormally weak and due to non-attachment of the posterior zonules to the equatorial zone of the lens, the lens changes its normal shape to spherical. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0034375
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0034375
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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
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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