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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

OMIM:618913

Synonyms

Acadian-variant Fanconi syndrome [EXACT]

Parent Relationships

is_a Fanconi syndrome

is_a autosomal recessive disease

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