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DOID:1062 - Fanconi syndrome
Disease Ontology Definition:A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
Synonyms: adult Fanconi Anemia, adult Fanconi syndrome, Congenital Fanconi syndrome, Congenital Fanconi syndrome (disorder), deToni Fanconi syndrome, De Toni-Fanconi syndrome, Fanconi-de Toni syndrome, Fanconi-de-Toni syndrome, Infantile nephropathic cystinosis, Lignac-Fanconi syndrome
Xenbase Genes
:
hnf4a,
ehhadh
| MONDO:0001083 - myocardium of ventricle |
| MIM:134600 - FANCONI RENOTUBULAR SYNDROME 1; FRTS1 |
| MIM:613388 - FANCONI RENOTUBULAR SYNDROME 2; FRTS2 |
| MIM:615605 - FANCONI RENOTUBULAR SYNDROME 3; FRTS3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
renal tubular transport disease (is_a)