Metadata | |
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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 |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |