Term Name: | Fanconi renotubular syndrome 5 |
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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 ) |