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
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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