Terminology Service for NFDI4Health
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.
Instance info
Synonyms
Classic Type RTA, RTA, Distal Type, Autosomal Dominant, Renal Tubular Acidosis I, Gradient Type RTAs, RTAs, Proximal Type, Renal Tubular Acidosis II, Typ I, renale tubuläre Azidose (DE), RTA, Classic Type, Renal Tubular Acidosis, Type I, Renal Tubular Acidosis, Renale tubuläre Azidose Typ 2 (DE), Classic Type RTAs, Proximal Type RTA, RTAs, Classic Type, Acidosis, Renal Tubular, Type I, Renale tubuläre Azidose Typ I (DE), Classic Distal Renal Tubular Acidosis, Renal Tubular Acidosis 1, Proximal Renal Tubular Acidosis, RTAs, Gradient Type, Renale tubuläre Azidose (DE), Renal Tubular Acidosis, Type II, Typ II, renale tubuläre Azidose (DE), Type II Renal Tubular Acidosis, Renal Tubular Acidosis, Proximal, Renal Tubular Acidosis, Proximal, with Ocular Abnormalities, Type I Renal Tubular Acidosis, Autosomal-dominante distale renale tubuläre Azidose (DE), Azidose, renale tubuläre (DE), Autosomal Dominant Distal Renal Tubular Acidosis, RTA, Proximal Type, Renale tubuläre Azidose Typ II (DE), Renale tubuläre Azidose Typ 1 (DE), RTA, Gradient Type, Acidosis, Renal Tubular, Type II, Distal Renal Tubular Acidosis, Proximal Type RTAs, Renal Tubular Acidosis, Distal, Autosomal Dominant, Gradient Type RTA
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
DC
1
DX
19650101
HN
65
MDA
19990101
MMR
20130708
MN
C12.777.419.815.093,C13.351.968.419.815.093,C16.320.565.861.093,C18.452.648.861.093,C18.452.076.176.210
PM
65
QB
http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000151,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/Q000532,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000469,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/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,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
SIB
http://purl.bioontology.org/ontology/MESH/D006030,http://purl.bioontology.org/ontology/MESH/D005198,http://purl.bioontology.org/ontology/MESH/D000608,http://purl.bioontology.org/ontology/MESH/D007662,http://purl.bioontology.org/ontology/MESH/D056929,http://purl.bioontology.org/ontology/MESH/D011546,http://purl.bioontology.org/ontology/MESH/D001477,http://purl.bioontology.org/ontology/MESH/D053579,http://purl.bioontology.org/ontology/MESH/D000142,http://purl.bioontology.org/ontology/MESH/D000140,http://purl.bioontology.org/ontology/MESH/D009800,http://purl.bioontology.org/ontology/MESH/D057973,http://purl.bioontology.org/ontology/MESH/D007015
TERMUI
T657449,T657448,T823116,T823115,T657115,T657447,T657446,T812155,T000409,T834246,T000408,T834245,T834248,T000407,T000406,T834247,T000405,T834249,T000404,T000403,T812215,T000402
TH
NLM (2007),ORD (2010),OMIM (2013),NLM (1998),NLM (1965)
cui
C0268435,C1704380,C0001126
hasSTY
http://purl.bioontology.org/ontology/STY/T047
mapped from
http://purl.bioontology.org/ontology/MESH/C536060,http://purl.bioontology.org/ontology/MESH/C537759,http://purl.bioontology.org/ontology/MESH/C566918,http://purl.bioontology.org/ontology/MESH/C537758,http://purl.bioontology.org/ontology/MESH/C566428,http://purl.bioontology.org/ontology/MESH/C536058,http://purl.bioontology.org/ontology/MESH/C566911,http://purl.bioontology.org/ontology/MESH/C566910,http://purl.bioontology.org/ontology/MESH/C562897,http://purl.bioontology.org/ontology/MESH/C567038,http://purl.bioontology.org/ontology/MESH/C537386
tui
T047
Instance relations
Types