Human Phenotype Ontology 
Grandparent Node:
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Abnormal renal physiology (HP:0012211)help
Parent Node:
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Acidosis (HP:0001941)help
Parent Node:
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Renal tubular dysfunction (HP:0000124)help
..Starting node
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Renal tubular acidosis (HP:0001947)help
Term ID: 1947
Name: Renal tubular acidosis
Synonym: Accumulation of acid in body due to kidney problem
Definition: Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
Comments:
Reference: HP:0001947
Genes and Diseases:
 
       Child Nodes:
........expandProximal renal tubular acidosis (HP:0002049) help
........expandBicarbonate-wasting renal tubular acidosis (HP:0004910) help
........expandDistal renal tubular acidosis (HP:0008341) help
................... HP:0004916 Generalized distal tubular acidosis

 Sister Nodes: 
..expandImpaired histidine renal tubular absorption (HP:0008666) help
..expandRenal tubular lysine transport defect (HP:0008272) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001947HP:0001947Renal tubular acidosis0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0001947HP:0001947Renal tubular acidosis0ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0001947HP:0001947Renal tubular acidosis0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001947HP:0001947Renal tubular acidosis0CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001947HP:0001947Renal tubular acidosis0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0001947HP:0001947Renal tubular acidosis0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0001947HP:0001947Renal tubular acidosis0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001947HP:0001947Renal tubular acidosis0CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001947HP:0001947Renal tubular acidosis0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0001947HP:0001947Renal tubular acidosis0EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0001947HP:0001947Renal tubular acidosis0KYNU CL E G H894279155ORPHA1546469605197
HP:0001947HP:0001947Renal tubular acidosis0KYNU CL E G H894279155ORPHA1496469605197
HP:0001947HP:0001947Renal tubular acidosis0NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001947HP:0001947Renal tubular acidosis0NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001947HP:0001947Renal tubular acidosis0NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM16277882600275
HP:0001947HP:0001947Renal tubular acidosis0NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM15267882600275
HP:0001947HP:0001947Renal tubular acidosis0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0001947HP:0001947Renal tubular acidosis0RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0001947HP:0001947Renal tubular acidosis0SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM135111027109270
HP:0001947HP:0001947Renal tubular acidosis0SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM130911027109270
HP:0001947HP:0001947Renal tubular acidosis0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001947HP:0001947Renal tubular acidosis0VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001947HP:0001947Renal tubular acidosis0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001947HP:0001947Renal tubular acidosis0VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0001947HP:0008341Distal renal tubular acidosis1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0001947HP:0002049Proximal renal tubular acidosis1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0001947HP:0008341Distal renal tubular acidosis1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0001947HP:0002049Proximal renal tubular acidosis1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0001947HP:0001994Renal Fanconi syndrome1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0001947HP:0001994Renal Fanconi syndrome1ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0001947HP:0002049Proximal renal tubular acidosis1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001947HP:0008341Distal renal tubular acidosis1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001947HP:0002049Proximal renal tubular acidosis1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001947HP:0008341Distal renal tubular acidosis1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001947HP:0001994Renal Fanconi syndrome1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001947HP:0001994Renal Fanconi syndrome1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001947HP:0008341Distal renal tubular acidosis1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0001947HP:0002049Proximal renal tubular acidosis1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0001947HP:0008341Distal renal tubular acidosis1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0001947HP:0002049Proximal renal tubular acidosis1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0001947HP:0001994Renal Fanconi syndrome1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0001947HP:0001994Renal Fanconi syndrome1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0001947HP:0008341Distal renal tubular acidosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001947HP:0002049Proximal renal tubular acidosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001947HP:0008341Distal renal tubular acidosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001947HP:0002049Proximal renal tubular acidosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001947HP:0001994Renal Fanconi syndrome1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001947HP:0001994Renal Fanconi syndrome1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001947HP:0008341Distal renal tubular acidosis1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0001947HP:0002049Proximal renal tubular acidosis1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0001947HP:0008341Distal renal tubular acidosis1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0001947HP:0002049Proximal renal tubular acidosis1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0001947HP:0001994Renal Fanconi syndrome1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0001947HP:0001994Renal Fanconi syndrome1EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0001947HP:0002049Proximal renal tubular acidosis1KYNU CL E G H894279155ORPHA1546469605197
HP:0001947HP:0008341Distal renal tubular acidosis1KYNU CL E G H894279155ORPHA1546469605197
HP:0001947HP:0002049Proximal renal tubular acidosis1KYNU CL E G H894279155ORPHA1496469605197
HP:0001947HP:0008341Distal renal tubular acidosis1KYNU CL E G H894279155ORPHA1496469605197
HP:0001947HP:0001994Renal Fanconi syndrome1KYNU CL E G H894279155ORPHA1546469605197
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1KYNU CL E G H894279155ORPHA1546469605197
HP:0001947HP:0001994Renal Fanconi syndrome1KYNU CL E G H894279155ORPHA1496469605197
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1KYNU CL E G H894279155ORPHA1496469605197
HP:0001947HP:0008341Distal renal tubular acidosis1NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001947HP:0002049Proximal renal tubular acidosis1NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001947HP:0008341Distal renal tubular acidosis1NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001947HP:0002049Proximal renal tubular acidosis1NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001947HP:0001994Renal Fanconi syndrome1NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001947HP:0001994Renal Fanconi syndrome1NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001947HP:0008341Distal renal tubular acidosis1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM16277882600275
HP:0001947HP:0002049Proximal renal tubular acidosis1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM16277882600275
HP:0001947HP:0008341Distal renal tubular acidosis1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM15267882600275
HP:0001947HP:0002049Proximal renal tubular acidosis1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM15267882600275
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM16277882600275
HP:0001947HP:0001994Renal Fanconi syndrome1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM16277882600275
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM15267882600275
HP:0001947HP:0001994Renal Fanconi syndrome1NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM15267882600275
HP:0001947HP:0008341Distal renal tubular acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0001947HP:0002049Proximal renal tubular acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0001947HP:0008341Distal renal tubular acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0001947HP:0002049Proximal renal tubular acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0001947HP:0001994Renal Fanconi syndrome1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0001947HP:0001994Renal Fanconi syndrome1RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0001947HP:0008341Distal renal tubular acidosis1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM135111027109270
HP:0001947HP:0002049Proximal renal tubular acidosis1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM135111027109270
HP:0001947HP:0008341Distal renal tubular acidosis1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM130911027109270
HP:0001947HP:0002049Proximal renal tubular acidosis1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM130911027109270
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM135111027109270
HP:0001947HP:0001994Renal Fanconi syndrome1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM135111027109270
HP:0001947HP:0001994Renal Fanconi syndrome1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM130911027109270
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM130911027109270
HP:0001947HP:0002049Proximal renal tubular acidosis1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001947HP:0008341Distal renal tubular acidosis1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001947HP:0002049Proximal renal tubular acidosis1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001947HP:0008341Distal renal tubular acidosis1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001947HP:0001994Renal Fanconi syndrome1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001947HP:0001994Renal Fanconi syndrome1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001947HP:0008341Distal renal tubular acidosis1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001947HP:0002049Proximal renal tubular acidosis1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001947HP:0008341Distal renal tubular acidosis1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0001947HP:0002049Proximal renal tubular acidosis1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0001947HP:0001994Renal Fanconi syndrome1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001947HP:0001994Renal Fanconi syndrome1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
HP:0001947HP:0004916Generalized distal tubular acidosis2ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1355853192132
HP:0001947HP:0004916Generalized distal tubular acidosis2ATP6V1B1 CL E G H525267300Renal tubular acidosis with progressive nerve deafness267300C0403554OMIM1318853192132
HP:0001947HP:0004916Generalized distal tubular acidosis2CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM15621424114010
HP:0001947HP:0004916Generalized distal tubular acidosis2CAD CL E G H790616457Epileptic encephalopathy, early infantile, 50616457C4225320OMIM12181424114010
HP:0001947HP:0004916Generalized distal tubular acidosis2CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12452037603959
HP:0001947HP:0004916Generalized distal tubular acidosis2CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM12312037603959
HP:0001947HP:0004916Generalized distal tubular acidosis2CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM15032328600528
HP:0001947HP:0004916Generalized distal tubular acidosis2CPT1A CL E G H1374255120Carnitine palmitoyltransferase I deficiency255120C0342789OMIM14522328600528
HP:0001947HP:0004916Generalized distal tubular acidosis2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA1103329331615068
HP:0001947HP:0004916Generalized distal tubular acidosis2EPG5 CL E G H577241493Congenital mesoblastic nephromaORPHA180129331615068
HP:0001947HP:0004916Generalized distal tubular acidosis2KYNU CL E G H894279155ORPHA1546469605197
HP:0001947HP:0004916Generalized distal tubular acidosis2KYNU CL E G H894279155ORPHA1496469605197
HP:0001947HP:0004916Generalized distal tubular acidosis2NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001947HP:0004916Generalized distal tubular acidosis2NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001947HP:0004916Generalized distal tubular acidosis2NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM16277882600275
HP:0001947HP:0004916Generalized distal tubular acidosis2NOTCH2 CL E G H4853610205Alagille syndrome 2610205C1857761OMIM15267882600275
HP:0001947HP:0004916Generalized distal tubular acidosis2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM118021176614917
HP:0001947HP:0004916Generalized distal tubular acidosis2RMND1 CL E G H55005614922Combined oxidative phosphorylation deficiency 11614922C3554067OMIM115521176614917
HP:0001947HP:0004916Generalized distal tubular acidosis2SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM135111027109270
HP:0001947HP:0004916Generalized distal tubular acidosis2SLC4A1 CL E G H6521179800Renal tubular acidosis, distal, autosomal dominant179800C0259810OMIM130911027109270
HP:0001947HP:0004916Generalized distal tubular acidosis2VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116120347613401
HP:0001947HP:0004916Generalized distal tubular acidosis2VIPAS39 CL E G H63894613404Arthrogryposis, renal dysfunction, and cholestasis 2613404C3150672OMIM116020347613401
HP:0001947HP:0004916Generalized distal tubular acidosis2VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM127212712608552
HP:0001947HP:0004916Generalized distal tubular acidosis2VPS33B CL E G H26276208085Arthrogryposis renal dysfunction cholestasis syndrome208085C1859722OMIM126312712608552
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001947HP:0001947Renal tubular acidosis0CPT1A CL E G H1374156ORPHA05032328600528
HP:0001947HP:0001947Renal tubular acidosis0CPT1A CL E G H1374156ORPHA04522328600528
HP:0001947HP:0001947Renal tubular acidosis0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM047413601605654
HP:0001947HP:0001947Renal tubular acidosis0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM045813601605654
HP:0001947HP:0001947Renal tubular acidosis0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM010686188601920
HP:0001947HP:0001947Renal tubular acidosis0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM09066188601920
HP:0001947HP:0008341Distal renal tubular acidosis1CPT1A CL E G H1374156ORPHA05032328600528
HP:0001947HP:0002049Proximal renal tubular acidosis1CPT1A CL E G H1374156ORPHA05032328600528
HP:0001947HP:0008341Distal renal tubular acidosis1CPT1A CL E G H1374156ORPHA04522328600528
HP:0001947HP:0002049Proximal renal tubular acidosis1CPT1A CL E G H1374156ORPHA04522328600528
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CPT1A CL E G H1374156ORPHA05032328600528
HP:0001947HP:0001994Renal Fanconi syndrome1CPT1A CL E G H1374156ORPHA05032328600528
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1CPT1A CL E G H1374156ORPHA04522328600528
HP:0001947HP:0001994Renal Fanconi syndrome1CPT1A CL E G H1374156ORPHA04522328600528
HP:0001947HP:0008341Distal renal tubular acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM047413601605654
HP:0001947HP:0002049Proximal renal tubular acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM047413601605654
HP:0001947HP:0008341Distal renal tubular acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM045813601605654
HP:0001947HP:0002049Proximal renal tubular acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM045813601605654
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM047413601605654
HP:0001947HP:0001994Renal Fanconi syndrome1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM047413601605654
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM045813601605654
HP:0001947HP:0001994Renal Fanconi syndrome1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM045813601605654
HP:0001947HP:0008341Distal renal tubular acidosis1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM010686188601920
HP:0001947HP:0002049Proximal renal tubular acidosis1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM010686188601920
HP:0001947HP:0008341Distal renal tubular acidosis1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM09066188601920
HP:0001947HP:0002049Proximal renal tubular acidosis1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM09066188601920
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM010686188601920
HP:0001947HP:0001994Renal Fanconi syndrome1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM010686188601920
HP:0001947HP:0004910Bicarbonate-wasting renal tubular acidosis1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM09066188601920
HP:0001947HP:0001994Renal Fanconi syndrome1JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM09066188601920
HP:0001947HP:0004916Generalized distal tubular acidosis2CPT1A CL E G H1374156ORPHA05032328600528
HP:0001947HP:0004916Generalized distal tubular acidosis2CPT1A CL E G H1374156ORPHA04522328600528
HP:0001947HP:0004916Generalized distal tubular acidosis2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM047413601605654
HP:0001947HP:0004916Generalized distal tubular acidosis2FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM045813601605654
HP:0001947HP:0004916Generalized distal tubular acidosis2JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM010686188601920
HP:0001947HP:0004916Generalized distal tubular acidosis2JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM09066188601920


Genes (41) :ALDOB ATP6V0A4 ATP6V1B1 BCS1L CA2 CAD CLDN16 COA7 COA8 COX10 COX14 COX20 COX6B1 COX8A CPT1A CTNS EPG5 FAH FASTKD2 FBXL4 FN1 GATA3 HNF1B HNF4A JAG1 KYNU NADK2 NOTCH2 OCRL PC PET100 RMND1 SCO1 SLC4A1 SLC4A4 TACO1 TRNN TRNS1 UQCC2 VIPAS39 VPS33B

Diseases (34) :267300 616457 248250 156 255120 1493 615471 118450 79155 431361 610205 614922 179800 613404 208085 229600 602722 53693 259730 220110 436271 411629 219800 276700 146255 93111 263455 534 309000 266150 611590 604278 615824 601894
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.