Details of Disease

General Information of Disease (ID: DISIUGQN)

Disease Name Cone-rod dystrophy 16
Synonyms
retinitis pigmentosa 64; retinal dystrophy with early macular involvement; cone-rod dystrophy type 16; cone-rod dystrophy caused by mutation in C8orf37; C8orf37 cone-rod dystrophy; cone-rod dystrophy 16; CORD16
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISCGPY8: Retinitis pigmentosa
DISIUGQN: Cone-rod dystrophy 16
Disease Identifiers
MONDO ID
MONDO_0013786
UMLS CUI
C3281045
OMIM ID
614500
MedGen ID
482675

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFAP418 OT0F9NFP Definitive Autosomal recessive [1]
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References

1 Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia. Ophthalmic Genet. 2016;37(1):68-75. doi: 10.3109/13816810.2014.949380. Epub 2014 Aug 12.