Fanconi syndrome

Term ID

DOID:1062

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 )

Relationships

is a type of: renal tubular transport disease

renal tubular transport disease Show first 5 Terms
has subtype: Fanconi renotubular syndrome 1 Fanconi renotubular syndrome 2 Fanconi renotubular syndrome 3 Fanconi renotubular syndrome 4 Fanconi renotubular syndrome 5

Fanconi renotubular syndrome 1 Fanconi renotubular syndrome 2 Fanconi renotubular syndrome 3 Fanconi renotubular syndrome 4 Fanconi renotubular syndrome 5 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations