Details of Disease

General Information of Disease (ID: DISNEPML)

Disease Name Cone-rod dystrophy 18
Synonyms cone-rod dystrophy type 18; CORD18; cone-rod dystrophy caused by mutation in RAB28; cone-rod dystrophy 18; RAB28 cone-rod dystrophy
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DIS4PHLJ: RAB28-related retinopathy
DISNEPML: Cone-rod dystrophy 18
Disease Identifiers
MONDO ID
MONDO_0014153
UMLS CUI
C3809299
OMIM ID
615374
MedGen ID
815629

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
RAB28 OTZX5BP6 Definitive Autosomal recessive [1]
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References

1 New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 Feb;133(2):133-9. doi: 10.1001/jamaophthalmol.2014.4266.