Details of Disease

General Information of Disease (ID: DISD023K)

Disease Name Leber congenital amaurosis 7
Synonyms Leber congenital amaurosis type 7; Leber congenital amaurosis 7; LCA7; CRX Leber congenital amaurosis; Leber congenital amaurosis caused by mutation in CRX
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene.
Disease Hierarchy
DISMGH8F: Leber congenital amaurosis
DISD023K: Leber congenital amaurosis 7
Disease Identifiers
MONDO ID
MONDO_0013449
UMLS CUI
C3151192
OMIM ID
613829
MedGen ID
462542

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
CRX OTH435SV Definitive Semidominant [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.