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Fanconi Syndrome

http://purl.bioontology.org/ontology/MESH/D005198

A hereditary or acquired form of generalized dysfunction of the PROXIMAL KIDNEY TUBULE without primary involvement of the KIDNEY GLOMERULUS. It is usually characterized by the tubular wasting of nutrients and salts (GLUCOSE; AMINO ACIDS; PHOSPHATES; and BICARBONATES) resulting in HYPOKALEMIA; ACIDOSIS; HYPERCALCIURIA; and PROTEINURIA.

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Instance info

Synonyms

Glukose-Aminosaeuren-Diabetes (DE), Lignac Fanconi Syndrome, Syndrome, Luder-Sheldon, Glykogenspeicherkrankheit XI (DE), Primäres De-Toni-Debre-Fanconi-Syndrom (DE), Debre-de-Toni-Fanconi-Syndrom (DE), Syndrome, Fanconi Renotubular, Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance, De-Toni-Debre-Fanconi-Syndrom (DE), Hepatorenal Glycogenosis with Renal Fanconi Syndrome, Syndrome, Adult Fanconi, Hepatic Glycogenosis with Fanconi Nephropathy, Hepatic Glycogenosis with Amino Aciduria and Glucosuria, Fanconi-Bickel Syndromes, Luder Sheldon Syndrome, Renales Fanconi-Syndrom (DE), Toni-Debre-Fanconi-Syndrom (DE), Glukose-Aminosäuren-Diabetes (DE), Pseudo-Phlorizin-Diabetes (DE), Lignac-Fanconi Syndrome, Fanconi Renotubular Syndrome, Glycogen Storage Disease XI, Luder-Sheldon Syndrome, Diabetes, Pseudo-Phlorizin, Pseudo-Phlorizin Diabete, Syndrome, Fanconi-Bickel, Syndrome, Fanconi, Neonatales De-Toni-Debre-Fanconi-Syndrom (DE), Syndrome, Fanconi Bickel, Toni-Debre-Fanconi Syndrome, Adult Fanconi Syndrome, Neonatal De Toni-Debre-Fanconi Syndrome, Proximal Renal Tubular Dysfunction, Luder-Sheldon-Syndrom (DE), Fanconi Syndrome, Renal, De Toni-Debre-Fanconi Syndrome, Fanconi Bickel Syndrome, Fanconi Syndrome without Cystinosis, Idiopathic De Toni-Debre-Fanconi Syndrome, Lignac-Fanconi-Syndrom (DE), Renal Fanconi Syndrome, Glykogenose, Fanconi-Typ (DE), Renotubular Syndrome, Fanconi, Adultes Fanconi-Syndrom (DE), Fanconi-Syndrom (DE), Syndrome, Lignac-Fanconi, Primary Toni-Debre-Fanconi Syndrome, Idiopathisches De-Toni-Debre-Fanconi-Syndrom (DE), Syndromes, Fanconi-Bickel, Primaeres De-Toni-Debre-Fanconi-Syndrom (DE), Bickel Syndrome, Fanconi, Pseudo-Phlorizin Diabetes, Fanconi-Bickel Syndrome, Fanconi Syndrome, Adult, Diabete, Pseudo-Phlorizin, Glycogenosis, Fanconi Type, Fanconi-Syndrom ohne Zystinose (DE), Hepatische Glykogenose mit Fanconi-Nephropathie (DE), Bickel-Fanconi-Glykogenose (DE), Fanconi Type Glycogenosis, Fanconi-Bickel-Syndrom (DE), Syndrome, Renal Fanconi, Pseudo Phlorizin Diabetes

do not confuse with other diseases with "FANCONI" as part of the name

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

19650101

D051273

1965; LIGNAC-FANCONI SYNDROME was LIGNAC-FANCONI DISEASE use METABOLIC DISEASES 1963-1964

MDA

19990101

MMR

20150622

C16.320.565.861.450,C13.351.968.419.815.450,C18.452.648.861.450,C12.777.419.815.450

1965; LIGNAC-FANCONI SYNDROME was LIGNAC-FANCONI DISEASE see METABOLIC DISEASES 1963-1964

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D051273

SIB

http://purl.bioontology.org/ontology/MESH/D001477,http://purl.bioontology.org/ontology/MESH/D053579,http://purl.bioontology.org/ontology/MESH/D006030,http://purl.bioontology.org/ontology/MESH/D000608,http://purl.bioontology.org/ontology/MESH/D000141,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D007015,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D056929,http://purl.bioontology.org/ontology/MESH/D011546

TERMUI

T817210,T015949,T015948,T817207,T751196,T817206,T015951,T817205,T015950,T817204,T817203,T817202,T817201,T751204,T751199,T817209,T817208,T751197,T801023,T801198,T654380,T654381

NLM (2007),ORD (2010),OMIM (2013),NLM (2010),NLM (1965),UNK (19XX),NLM (2013)

cui

C0341703,C1857395,C0015624,C3495427

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C564829,http://purl.bioontology.org/ontology/MESH/C535269,http://purl.bioontology.org/ontology/MESH/C538206

tui

T047

Instance relations

Types

Class