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Human Disease

Fanconi renotubular syndrome 5

Term ID
DOID:0080761
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. https://pubmed.ncbi.nlm.nih.gov/27466185/
References
Ontology
Human Disease   ( DOID:0080761 )
Relationships
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Genes Involved
Zebrafish Models