loading...| Preferred Name |
Fanconi Syndrome |
|
| Synonyms |
Adult Fanconi Syndrome Fanconi Syndrome, Adult Syndrome, Adult Fanconi Syndromes, Fanconi-Bickel Syndrome, Fanconi Renotubular Glycogen Storage Disease XI Pseudo-Phlorizin Diabete Renotubular Syndrome, Fanconi Fanconi-Bickel Syndrome Proximal Renal Tubular Dysfunction Luder-Sheldon Syndrome Bickel Syndrome, Fanconi Luder Sheldon Syndrome Syndrome, Fanconi Bickel Hepatic Glycogenosis with Fanconi Nephropathy Syndrome, Renal Fanconi Lignac-Fanconi Syndrome Fanconi-Bickel Syndromes Toni-Debre-Fanconi Syndrome Syndrome, Lignac-Fanconi Pseudo-Phlorizin Diabetes Syndrome, Fanconi-Bickel Neonatal De Toni-Debre-Fanconi Syndrome Renal Fanconi Syndrome Diabete, Pseudo-Phlorizin Hepatic Glycogenosis with Amino Aciduria and Glucosuria Fanconi Renotubular Syndrome Fanconi Type Glycogenosis Fanconi Syndrome without Cystinosis Syndrome, Fanconi Primary Toni-Debre-Fanconi Syndrome Diabetes, Pseudo-Phlorizin Glycogenosis, Fanconi Type Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance Pseudo Phlorizin Diabetes Syndrome, Luder-Sheldon Fanconi Bickel Syndrome Lignac Fanconi Syndrome De Toni-Debre-Fanconi Syndrome Fanconi Syndrome, Renal Idiopathic De Toni-Debre-Fanconi Syndrome Hepatorenal Glycogenosis with Renal Fanconi Syndrome |
|
| 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 |
Adult Fanconi Syndrome Fanconi Syndrome, Adult Syndrome, Adult Fanconi Syndromes, Fanconi-Bickel Syndrome, Fanconi Renotubular Glycogen Storage Disease XI Pseudo-Phlorizin Diabete Renotubular Syndrome, Fanconi Fanconi-Bickel Syndrome Proximal Renal Tubular Dysfunction Luder-Sheldon Syndrome Bickel Syndrome, Fanconi Luder Sheldon Syndrome Syndrome, Fanconi Bickel Hepatic Glycogenosis with Fanconi Nephropathy Syndrome, Renal Fanconi Lignac-Fanconi Syndrome Fanconi-Bickel Syndromes Toni-Debre-Fanconi Syndrome Syndrome, Lignac-Fanconi Pseudo-Phlorizin Diabetes Syndrome, Fanconi-Bickel Neonatal De Toni-Debre-Fanconi Syndrome Renal Fanconi Syndrome Diabete, Pseudo-Phlorizin Hepatic Glycogenosis with Amino Aciduria and Glucosuria Fanconi Renotubular Syndrome Fanconi Type Glycogenosis Fanconi Syndrome without Cystinosis Syndrome, Fanconi Primary Toni-Debre-Fanconi Syndrome Diabetes, Pseudo-Phlorizin Glycogenosis, Fanconi Type Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance Pseudo Phlorizin Diabetes Syndrome, Luder-Sheldon Fanconi Bickel Syndrome Lignac Fanconi Syndrome De Toni-Debre-Fanconi Syndrome Fanconi Syndrome, Renal Idiopathic De Toni-Debre-Fanconi Syndrome Hepatorenal Glycogenosis with 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 |
C1857395 C0341703 C3495427 C0015624 |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| 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 |
20210630 |
|
| MN |
C12.050.351.968.419.815.450 C12.950.419.815.450 C16.320.831.450 C12.200.777.419.815.450 |
|
| notation |
D005198 |
|
| prefLabel |
Fanconi Syndrome |
|
| TERMUI |
T801198 T751199 T817206 T817208 T817207 T817209 T015951 T751196 T801023 T817202 T015949 T654381 T817210 T817204 T015950 T751197 T817203 T817205 T015948 T751204 T654380 T817201 |
|
| TH |
NLM (1965) OMIM (2013) UNK (19XX) NLM (2013) NLM (2010) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |