Details of Disease

General Information of Disease (ID: DISN8HRE)

Disease Name Nephronophthisis 18
Synonyms nephronophthisis (disease) caused by mutation in CEP83; nephronophthisis type 18; nephronophthisis 18; NPHP18; CEP83 nephronophthisis (disease)
Definition Any nephronophthisis in which the cause of the disease is a mutation in the CEP83 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DISN8HRE: Nephronophthisis 18
Disease Identifiers
MONDO ID
MONDO_0014374
UMLS CUI
C3890591
OMIM ID
615862
MedGen ID
855697

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
CEP83 OTNJGQ11 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.