Search Ontology:
Human Disease

achromatopsia 6

Term ID
DOID:0081025
Synonyms
  • retinal cone dystrophy 3A
Definition
A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H) on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/22901948/
References
Ontology
Human Disease   ( DOID:0081025 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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