Details of Disease

General Information of Disease (ID: DIS9KCZY)

Disease Name Nephronophthisis 12
Synonyms Joubert syndrome 11; nephronophthisis 12; TTC21B nephronophthisis (disease); NPHP12; nephronophthisis type 12; nephronophthisis (disease) caused by mutation in TTC21B
Definition Any nephronophthisis in which the cause of the disease is a mutation in the TTC21B gene.
Disease Hierarchy
DISXU4HY: Nephronophthisis
DIS9KCZY: Nephronophthisis 12
Disease Identifiers
MONDO ID
MONDO_0013442
UMLS CUI
C3151186
OMIM ID
613820
MedGen ID
462536

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
TTC21B OTXXA87U Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.