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Metadata
DOID DOID:1062
Name Fanconi syndrome
Definition A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
http://en.wikipedia.org/wiki/Fanconi_syndrome, http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html, http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm
Xrefs

CSP2005:1849-2203

GARD:9120

MESH:D005198

MTHICD9_2006:270.0

NCI2004_11_17:C4377

NCI:C3034

NCI:C4377

OMIM:134600

OMIM:613388

OMIM:615605

ORDO:3337

SNOMEDCT_US_2018_03_01:40488004

SNOMEDCT_US_2018_03_01:44673006

UMLS_CUI:C0015624

UMLS_CUI:C0341703

Alternateids

DOID:5956

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

adult Fanconi Anemia [EXACT]

adult Fanconi syndrome [EXACT]

Congenital Fanconi syndrome [EXACT]

De Toni-Fanconi syndrome [EXACT]

deToni Fanconi syndrome [EXACT]

Fanconi-de Toni syndrome [EXACT]

Fanconi-de-Toni syndrome [EXACT]

Infantile nephropathic cystinosis [EXACT]

Lignac-Fanconi syndrome [EXACT]

Relationships

is_a renal tubular transport disease

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