OBO ID: DOID:1062
Term Name: Fanconi syndrome Search Ontology:
Synonyms:
  • adult Fanconi Anemia
  • adult Fanconi syndrome
  • Congenital Fanconi syndrome
  • De Toni-Fanconi syndrome
  • deToni Fanconi syndrome
  • Fanconi-de Toni syndrome
  • Fanconi-de-Toni syndrome
  • Infantile nephropathic cystinosis
  • Lignac-Fanconi syndrome
Definition: A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. (3)
References:
  • GARD:9118
  • MESH:D005198
  • NCI:C3034
  • NCI:C4377
  • OMIM:PS134600
  • ORDO:3337
  • SNOMEDCT_US_2023_03_01:236468006
  • SNOMEDCT_US_2023_03_01:40488004
  • UMLS_CUI:C0015624
  • UMLS_CUI:C0341703
Ontology: Human Disease   ( DOID:1062 )
OTHER Fanconi syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)