Details of Disease

General Information of Disease (ID: DISUYAHP)

Disease Name Cone-rod dystrophy 15
Synonyms retinitis pigmentosa 65; cone-rod dystrophy type 15; CORD15; cone-rod dystrophy caused by mutation in CDHR1; cone-rod dystrophy 15; CDHR1 cone-rod dystrophy
Definition Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene.
Disease Hierarchy
DISY9RWN: Cone-rod dystrophy
DISCGPY8: Retinitis pigmentosa
DISUYAHP: Cone-rod dystrophy 15
Disease Identifiers
MONDO ID
MONDO_0013348
UMLS CUI
C3150912
OMIM ID
613660
MedGen ID
462262

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
CDHR1 OT1ORXCM Definitive Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.