| Term Name: | Fanconi renotubular syndrome 5 |
|---|---|
| Synonyms: | Acadian-variant Fanconi syndrome |
| 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. |
| Ontology: | Human Disease [DOID:0080761] ( DOID:0080761 ) |