Human Gene Set: HP_PIGMENTARY_RETINOPATHY


Standard name HP_PIGMENTARY_RETINOPATHY
Systematic name M34812
Brief description Pigmentary retinopathy
Full description or abstract An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. [https://orcid.org/0000-0003-0986-4123]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000580
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000580
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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)
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NCI-60 cell lines (National Cancer Institute)
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Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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