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About: Fanconi renotubular syndrome 3     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • Fanconi renotubular syndrome 3 (en)
described by
id
  • DOID:0080759
database_cross_reference
  • OMIM:615605
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27.
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