OBO ID: DOID:0081025
Term Name: retinal cone dystrophy 3A Search Ontology:
Synonyms:
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 (PDE6H0) on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/22901948/
References:
Ontology: Human Disease   ( DOID:0081025 )
Relationships
is a type of:
OTHER retinal cone dystrophy 3A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PDE6H Achromatopsia 6 610024
Retinal cone dystrophy 3 610024
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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