Human Gene Set: HP_VISUAL_IMPAIRMENT


Standard name HP_VISUAL_IMPAIRMENT
Systematic name M34764
Brief description Visual impairment
Full description or abstract Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. [https://orcid.org/0000-0001-8727-6592]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000505
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000505
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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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GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
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Version history 2026.1.Hs: Updated to HPO Release 2026-01-08.


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