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DO Term : Fanconi renotubular syndrome 5 [DOID:0080761] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • OMIM:618913,
  • 618913,
  • Acadian-variant Fanconi syndrome
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents