Fanconi renotubular syndrome 5

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Summary

Literature (0)

DOID:0080761 - Fanconi renotubular syndrome 5

Disease Ontology 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.

Synonyms: Acadian-variant Fanconi syndrome,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Fanconi syndrome (is_a), autosomal recessive disease (is_a)