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DO Term : Fanconi syndrome [DOID:1062] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.

synonyms:
Infantile nephropathic cystinosis,
deToni Fanconi syndrome,
Congenital Fanconi syndrome,
MESH:D005198,
UMLS_CUI:C0341703,
adult Fanconi syndrome,
ORDO:3337,
Fanconi-de Toni syndrome,
DOID:5956,
PS134600,
NCI:C4377,
OMIM:PS134600,
GARD:9118,
De Toni-Fanconi syndrome,
Fanconi-de-Toni syndrome,
UMLS_CUI:C0015624,
Lignac-Fanconi syndrome,
SNOMEDCT_US_2023_03_01:236468006,
NCI:C3034,
adult Fanconi Anemia,
SNOMEDCT_US_2023_03_01:40488004

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

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