Details of Disease

General Information of Disease (ID: DISSTSLH)

Disease Name Cone-rod dystrophy 20
Synonyms cone-rod dystrophy 20; cone-rod dystrophy caused by mutation in POC1B; CORD20; POC1B cone-rod dystrophy; cone-rod dystrophy type 20
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISSTSLH: Cone-rod dystrophy 20
Disease Identifiers
MONDO ID
MONDO_0014427
UMLS CUI
C4014856
OMIM ID
615973
MedGen ID
863293

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
POC1B OTDIMIRZ Definitive Autosomal recessive [1]
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References

1 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2014 Aug 7;95(2):131-42. doi: 10.1016/j.ajhg.2014.06.012. Epub 2014 Jul 10.