Details of Disease

General Information of Disease (ID: DIS8BHC8)

Disease Name Leber congenital amaurosis 13
Synonyms retinitis pigmentosa 53; Leber congenital amaurosis 13; Leber congenital amaurosis caused by mutation in RDH12; LCA13; Leber congenital amaurosis type 13; RDH12 Leber congenital amaurosis
Definition Any Leber congenital amaurosis in which the cause of the disease is a mutation in the RDH12 gene.
Disease Hierarchy
DISB2MOW: RDH12-related recessive retinopathy
DISMGH8F: Leber congenital amaurosis
DIS8BHC8: Leber congenital amaurosis 13
Disease Identifiers
MONDO ID
MONDO_0012990
UMLS CUI
C2675186
OMIM ID
612712
MedGen ID
382544

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
RDH12 OTELFRRJ Definitive Autosomal recessive [1]
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References

1 RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis. 2011;17:2706-16. Epub 2011 Oct 19.