Details of Disease | DrugMAP

General Information of Disease (ID: DISXMZGR)

Disease Name	Cone-rod synaptic disorder syndrome, congenital nonprogressive
Synonyms	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS
Disease Hierarchy	DISYKSRF: Genetic disease DISXMZGR: Cone-rod synaptic disorder syndrome, congenital nonprogressive
Disease Identifiers	MONDO ID MONDO_0033543 UMLS CUI C5436505 OMIM ID 618970 MedGen ID 1773574

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
RIMS2	OTQASWDH	Strong	Autosomal recessive	[1]
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References

1	Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. Am J Hum Genet. 2020 Jun 4;106(6):859-871. doi: 10.1016/j.ajhg.2020.04.018. Epub 2020 May 28.