Human Gene Set: HP_ROD_CONE_DYSTROPHY


Standard name HP_ROD_CONE_DYSTROPHY
Systematic name M34767
Brief description Rod-cone dystrophy
Full description or abstract An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. [https://orcid.org/0000-0002-0736-9199, PMID:20212494]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000510
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000510
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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 2023.1.Hs: Updated to HPO Release 2023-01-27.

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