Details of Disease

General Information of Disease (ID: DISQH0WC)

Disease Name Nephronophthisis 15
Synonyms nephronophthisis 15; CEP164 nephronophthisis (disease); nephronophthisis (disease) caused by mutation in CEP164; NPHP15; nephronophthisis type 15
Definition Any nephronophthisis in which the cause of the disease is a mutation in the CEP164 gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DISGBSGP: Senior-Loken syndrome
DISQH0WC: Nephronophthisis 15
Disease Identifiers
MONDO ID
MONDO_0013917
UMLS CUI
C3541853
OMIM ID
614845
MedGen ID
762112

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
CEP164 OTLNRPAR Definitive Autosomal recessive [1]
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References

1 Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. Sci Rep. 2016 Oct 6;6:34764. doi: 10.1038/srep34764.