loading...| Preferred Name |
Fanconi Syndrome |
| Synonyms |
Syndrome, Renal Fanconi |
| Definitions |
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. |
| ID |
http://purl.bioontology.org/ontology/MESH/D005198 |
| altLabel |
Syndrome, Renal Fanconi Fanconi Syndrome, Adult Adult Fanconi Syndrome Syndrome, Fanconi Bickel Pseudo Phlorizin Diabetes Syndrome, Fanconi Renotubular Diabetes, Pseudo-Phlorizin Syndrome, Fanconi-Bickel Syndromes, Fanconi-Bickel Proximal Renal Tubular Dysfunction Luder-Sheldon Syndrome Renotubular Syndrome, Fanconi Toni-Debre-Fanconi Syndrome Fanconi-Bickel Syndromes Syndrome, Fanconi Syndrome, Luder-Sheldon Syndrome, Adult Fanconi Fanconi Syndrome without Cystinosis Primary Toni-Debre-Fanconi Syndrome De Toni-Debre-Fanconi Syndrome Fanconi Type Glycogenosis Neonatal De Toni-Debre-Fanconi Syndrome Fanconi-Bickel Syndrome Lignac-Fanconi Syndrome Glycogen Storage Disease XI Lignac Fanconi Syndrome Hepatorenal Glycogenosis with Renal Fanconi Syndrome Hepatic Glycogenosis with Fanconi Nephropathy Fanconi Bickel Syndrome Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance Hepatic Glycogenosis with Amino Aciduria and Glucosuria Pseudo-Phlorizin Diabete Fanconi Syndrome, Renal Pseudo-Phlorizin Diabetes Glycogenosis, Fanconi Type Diabete, Pseudo-Phlorizin Bickel Syndrome, Fanconi Idiopathic De Toni-Debre-Fanconi Syndrome Syndrome, Lignac-Fanconi Luder Sheldon Syndrome Fanconi Renotubular Syndrome Renal Fanconi Syndrome |
| AN |
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 |
| cui |
C0015624 C3495427 C1857395 C0341703 |
| DC |
1 |
| definition |
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. |
| DX |
19650101 |
| FX |
D051273 |
| HN |
1965; LIGNAC-FANCONI SYNDROME was LIGNAC-FANCONI DISEASE use METABOLIC DISEASES 1963-1964 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB |
http://purl.bioontology.org/ontology/MESH/D001477 http://purl.bioontology.org/ontology/MESH/D000141 http://purl.bioontology.org/ontology/MESH/D009800 http://purl.bioontology.org/ontology/MESH/D056929 http://purl.bioontology.org/ontology/MESH/D057973 http://purl.bioontology.org/ontology/MESH/D011546 http://purl.bioontology.org/ontology/MESH/D006030 http://purl.bioontology.org/ontology/MESH/D053579 |
| Machine permutation |
1965; LIGNAC-FANCONI SYNDROME was LIGNAC-FANCONI DISEASE see METABOLIC DISEASES 1963-1964 |
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C538206 |
| MDA |
19990101 |
| MMR |
20150622 |
| MN |
C13.351.968.419.815.450 C16.320.565.861.450 C12.777.419.815.450 C18.452.648.861.450 |
| notation |
D005198 |
| prefLabel |
Fanconi Syndrome |
| TERMUI |
T015950 T817209 T751197 T654381 T801198 T817203 T751199 T817208 T817202 T801023 T817207 T817201 T654380 T817205 T015951 T015948 T817206 T817210 T751196 T751204 T817204 T015949 |
| TH |
NLM (2013) NLM (1965) UNK (19XX) NLM (2010) NLM (2007) ORD (2010) OMIM (2013) |
| tui |
T047 |
| subClassOf |