loading...| Preferred Name |
Acidosis, Renal Tubular |
|
| Synonyms |
Proximal Renal Tubular Acidosis |
|
| Definitions |
The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000141 |
|
| altLabel |
Proximal Renal Tubular Acidosis Distal Renal Tubular Acidosis Gradient Type RTAs RTAs, Proximal Type Autosomal Dominant Distal Renal Tubular Acidosis Acidosis, Renal Tubular, Type I Renal Tubular Acidosis, Distal, Autosomal Dominant Classic Type RTA Proximal Type RTAs Proximal Type RTA Renal Tubular Acidosis I Renal Tubular Acidosis II RTA, Classic Type Renal Tubular Acidosis, Proximal Renal Tubular Acidosis Type II Renal Tubular Acidosis RTA, Distal Type, Autosomal Dominant RTAs, Gradient Type Gradient Type RTA Renal Tubular Acidosis, Type II Type I Renal Tubular Acidosis RTA, Proximal Type Acidosis, Renal Tubular, Type II Renal Tubular Acidosis, Type I Classic Type RTAs RTA, Gradient Type Classic Distal Renal Tubular Acidosis RTAs, Classic Type Renal Tubular Acidosis 1 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities |
|
| AQL |
BL CF CI CL CN 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 |
C1704380 C0268435 C0001126 |
|
| DC |
1 |
|
| definition |
The genetic defect is in the anion exchange protein gene SLC4A1 resulting in impaired excretion of hydrogen ions or renal acids in the distal renal tubules. The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting. A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS. |
|
| DX |
19650101 |
|
| HN |
65 |
|
| 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/Q000151 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 |
|
| Machine permutation |
65 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537758 http://purl.bioontology.org/ontology/MESH/C537759 http://purl.bioontology.org/ontology/MESH/C562897 http://purl.bioontology.org/ontology/MESH/C537386 http://purl.bioontology.org/ontology/MESH/C536058 http://purl.bioontology.org/ontology/MESH/C536060 http://purl.bioontology.org/ontology/MESH/C566428 http://purl.bioontology.org/ontology/MESH/C566911 http://purl.bioontology.org/ontology/MESH/C566910 |
|
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C16.320.831.093 C18.452.076.176.210 C12.050.351.968.419.815.093 C12.200.777.419.815.093 C12.950.419.815.093 |
|
| notation |
D000141 |
|
| prefLabel |
Acidosis, Renal Tubular |
|
| TERMUI |
T834246 T834245 T000404 T657448 T834247 T657447 T823116 T000403 T834248 T000407 T834249 T657115 T000408 T000402 T812215 T823115 T812155 T000409 T000405 T657449 T000406 T657446 |
|
| TH |
NLM (1965) OMIM (2013) NLM (1998) NLM (2007) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |