Details of Disease

General Information of Disease (ID: DISL6IZ6)

Disease Name Usher syndrome type 1J
Synonyms USHER syndrome, type Ij; Usher syndrome, type 1J; Usher syndrome type Ij; USH1J; CIB2 Usher syndrome; Usher syndrome caused by mutation in CIB2
Definition Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene.
Disease Hierarchy
DIS9YIS7: Usher syndrome
DISR29E4: Usher syndrome type 1
DISL6IZ6: Usher syndrome type 1J
Disease Identifiers
MONDO ID
MONDO_0013935
UMLS CUI
C3553944
OMIM ID
614869
MedGen ID
766858

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
CIB2 OT9ZJX1I Definitive Autosomal recessive [1]
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References

1 USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23. Clin Genet. 2009 Jan;75(1):86-91. doi: 10.1111/j.1399-0004.2008.01038.x. Epub 2008 May 25.