Human Gene Set: HP_RETINAL_COLOBOMA


Standard name HP_RETINAL_COLOBOMA
Systematic name M34747
Brief description Retinal coloboma
Full description or abstract A notch or cleft of the retina or choroid, located vertically below the optic disc. [https://orcid.org/0000-0002-0736-9199]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0000480
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0000480
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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 2026.1.Hs: Updated to HPO Release 2026-01-08.


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