Details of Disease

General Information of Disease (ID: DIS2EXT7)

Disease Name Cone-rod dystrophy 13
Synonyms cone-rod dystrophy type 13; cone-rod dystrophy caused by mutation in RPGRIP1; RPGRIP1 cone-rod dystrophy; CORD13; cone-rod dystrophy 13
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DIS2EXT7: Cone-rod dystrophy 13
Disease Identifiers
MONDO ID
MONDO_0011987
MESH ID
C567698
UMLS CUI
C2750720
OMIM ID
608194
MedGen ID
413025

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
RPGRIP1 OTABESO9 Definitive Autosomal recessive [1]
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References

1 Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. J Med Genet. 2003 Aug;40(8):616-9. doi: 10.1136/jmg.40.8.616.