Human Gene Set: HP_RETINAL_DYSTROPHY


Standard name HP_RETINAL_DYSTROPHY
Systematic name M34799
Brief description Retinal dystrophy
Full description or abstract Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. [https://orcid.org/0000-0003-0986-4123]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000556
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000556
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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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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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