OBO ID: DOID:0080761
Term Name: Fanconi renotubular syndrome 5 Search Ontology:
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)
OTHER Fanconi renotubular syndrome 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NDUFAF6 Fanconi renotubular syndrome 5 618913
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None