Human Gene Set: HP_ACHROMATOPSIA


Standard name HP_ACHROMATOPSIA
Systematic name M37879
Brief description Achromatopsia
Full description or abstract A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. [https://orcid.org/0000-0001-8727-6592, PMID:12015282]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0011516
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0011516
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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 2024.1.Hs: Updated to HPO Release 2024-04-26.

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