Details of Disease

General Information of Disease (ID: DISBJ79A)

Disease Name Cone-rod dystrophy and hearing loss 1
Synonyms CRDHL1; CONE-ROD DYSTROPHY AND HEARING LOSS 1; Crdhl; cone-rod dystrophy and hearing loss
Disease Hierarchy
DISZIE9F: Cone-rod dystrophy and hearing loss
DISBJ79A: Cone-rod dystrophy and hearing loss 1
Disease Identifiers
MONDO ID
MONDO_0020778
UMLS CUI
C5193018
OMIM ID
617236
MedGen ID
1682048

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
CEP78 OTTAI5S2 Strong 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.