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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:renal tubular acidosis
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Accession:DOID:14219 term browser browse the term
Definition:A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. (DO)
Synonyms:exact_synonym: Distal Renal Tubular Acidosis;   Proximal Renal Tubular Acidosis;   Proximal Type RTA;   Renal Tubular Acidosis II;   proximal renal tubular acidosis with ocular abnormalities;   type II renal tubular acidosis
 primary_id: MESH:D000141
 alt_id: OMIM:179830
 xref: GARD:7552;   ICD10CM:N25.89;   NCI:C28129
For additional species annotation, visit the Alliance of Genome Resources.


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renal tubular acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 susceptibility ISO DNA:nonsense,deletion,splice-site
ClinVar Annotator: match by term: Distal renal tubular acidosis		 RGD
ClinVar		 PMID:10973252 PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 RGD:1599383 NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 susceptibility ISO DNA:mutation;associated with Hearing Loss, Sensorineural
ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis		 RGD
ClinVar		 PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... RGD:1599372 NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr17:7,602,348...7,653,402
Ensembl chr17:7,599,535...7,653,402 		JBrowse link
G CTSB cathepsin B ISO protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr25:26,048,237...26,056,570
Ensembl chr25:26,048,253...26,055,801 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617 		JBrowse link
G SLC4A4 solute carrier family 4 member 4 susceptibility ISO CTD Direct Evidence: marker/mechanism
OMIM:179830 | OMIM:267200 | OMIM:602722
DNA:point mutations: ; 1043A>C, 1678G>A		 CTD
MouseDO
RGD		 PMID:10545938 PMID:18614622 RGD:61794 NCBI chr13:60,375,215...60,670,664
Ensembl chr13:60,328,136...60,666,728 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874 		JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CA2 carbonic anhydrase 2 ISO ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis OMIM
ClinVar		 PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 More... NCBI chr29:31,959,225...31,975,309
Ensembl chr29:31,935,172...31,980,579 		JBrowse link
Distal Renal Tubular Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
G ATP6V1C2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr17:7,602,348...7,653,402
Ensembl chr17:7,599,535...7,653,402 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G SLC4A2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr16:15,111,078...15,126,618
Ensembl chr16:15,111,116...15,126,617 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874 		JBrowse link
Distal Renal Tubular Acidosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant
ClinVar Annotator: match by term: Autosomal dominant distal renal tubular acidosis | ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Dominant | ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 1 | ClinVar Annotator: match by term: RTA, distal type, autosomal dominant | ClinVar Annotator: match by term: Renal Tubular Acidosis, Type I		 ClinVar PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness OMIM
ClinVar		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More... NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542 		JBrowse link
Distal Renal Tubular Acidosis 3, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss OMIM
ClinVar		 PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar PMID:25741868 PMID:28492532 PMID:35738466 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G TMEM213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chr16:9,859,553...9,865,051
Ensembl chr16:9,834,213...9,865,053 		JBrowse link
Distal Renal Tubular Acidosis 4 with Hemolytic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCBE1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 NCBI chr 1:16,597,389...16,819,888
Ensembl chr 1:16,597,334...16,819,894 		JBrowse link
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 4, WITH HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:25741868 PMID:30028003 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874 		JBrowse link
Distal Renal Tubular Acidosis, with Normal Red Cell Morphology term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A1 solute carrier family 4 member 1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology ClinVar PMID:15211439 NCBI chr 9:19,142,884...19,159,449
Ensembl chr 9:19,146,480...19,157,915 		JBrowse link
Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC4A4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by term: RTA, PROXIMAL, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 More... NCBI chr13:60,375,215...60,670,664
Ensembl chr13:60,328,136...60,666,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    Nutritional and Metabolic Diseases 7183
      disease of metabolism 7183
        inherited metabolic disorder 5527
          renal tubular transport disease 132
            renal tubular acidosis 11
              Distal Renal Tubular Acidosis + 8
              Maccario Mena Weir Syndrome 0
              Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
              Whyte Murphy Fallon Sly syndrome 0
              autosomal recessive osteopetrosis 3 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          inherited metabolic disorder 5527
            renal tubular transport disease 132
              renal tubular acidosis 11
                Distal Renal Tubular Acidosis + 8
                Maccario Mena Weir Syndrome 0
                Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
                Whyte Murphy Fallon Sly syndrome 0
                autosomal recessive osteopetrosis 3 1
paths to the root