FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Fanconi renotubular syndrome 5 ID (Ontology) DOID:0080761 (Human Disease)
Definition A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.
Also Known As "Acadian-variant Fanconi syndrome"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 Fanconi renotubular syndrome 5       1
 for disease ribbon | Fanconi renotubular syndrome 5       1
 model of | Fanconi renotubular syndrome 5       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
renal tubular transport disease  |
 |__Fanconi syndrome_____________|
                                 Fanconi renotubular syndrome 5  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
Fanconi syndrome
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "Acadian-variant Fanconi syndrome" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:618913