cone-rod dystrophy

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Information
Disease name
cone-rod dystrophy
Disease ID
DOID:0050572
Description
"A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells." [url:http\://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy]
Disease area statistics
Chromosome band
Gene symbol Chromosome Start Stop The number of variant
CFAP410 21 44,329,891 44,339,393 12
EYS 6 63,720,136 65,707,214 8
PHF3 6 63,635,802 63,726,011 4
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT01773278 Recruiting Phase 2 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) December 2008 December 2025
NCT02435940 Recruiting Inherited Retinal Degenerative Disease Registry June 2014 June 2037
NCT00427180 Unknown status N/A IRIS PILOT - Extended Pilot Study With a Retinal Implant System December 2006 December 2010
Disase is a (Disease Ontology)
DOID:8466
Cross Reference ID (Disease Ontology)
GARD:10790
Cross Reference ID (Disease Ontology)
ICD10CM:H35.5
Cross Reference ID (Disease Ontology)
ORDO:1872
Exact Synonym (Disease Ontology)
cone-rod retinal dystrophy