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Fanconi Syndrome

Disease ID: disease_node_3168

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DbxrefGARD:9118, MESH:D005198, MIM:PS134600, NCI:C3034, NCI:C4377, ORDO:3337, SNOMEDCT_US_2023_03_01:236468006, SNOMEDCT_US_2023_03_01:40488004, UMLS_CUI:C0015624, UMLS_CUI:C0341703
SubclassofDOID_447
Data SourceDOID, MESH
SynonymsCongenital Fanconi syndrome, De Toni-Fanconi syndrome, Fanconi-de Toni syndrome, Fanconi-de-Toni syndrome, Infantile nephropathic cystinosis, Lignac-Fanconi syndrome, adult Fanconi Anemia, adult Fanconi syndrome, deToni Fanconi syndrome
Mesh IdD005198
Mesh LabelFanconi Syndrome
Mesh SubclassofD015499
Doid LabelFanconi syndrome
Doid DescriptionA renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. Xref MGI. OMIM mapping confirmed by DO. [SN].
Disease Node Iddisease_node_3168
Doid IdDOID_1062
LabelFanconi Syndrome
Doid Alternate IdsDOID_5956