Details of Disease

General Information of Disease (ID: DISV6FO2)

Disease Name Fanconi renotubular syndrome 5
Synonyms Fanconi renotubular syndrome 5; Fanconi Renotubular Syndrome, Acadian Variant; FANCONI RENOTUBULAR SYNDROME 5; FRTS5
Disease Hierarchy
DISPC514: Inherited Fanconi renotubular syndrome
DISV6FO2: Fanconi renotubular syndrome 5
Disease Identifiers
MONDO ID
MONDO_0030056
UMLS CUI
C5394473
OMIM ID
618913
MedGen ID
1711127

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
NDUFAF6 OTRJMIGT Limited Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.