| Metadata | |
|---|---|
| ID | DOID:0080761 |
| Name | Fanconi renotubular syndrome 5 |
| 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. https://pubmed.ncbi.nlm.nih.gov/27466185/ |
| Xrefs | |
| Synonyms |
Acadian-variant Fanconi syndrome [EXACT] |
| Parent Relationships |
is_a Fanconi syndrome |