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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
ISS
ClinVar Annotator: match by term: Distal renal tubular acidosis
OMIM:179830 | OMIM:267200 | OMIM:602722
ClinVar
MouseDO
RGD
PMID:12414817 PMID:25741868 PMID:29311258 PMID:31959358 PMID:10973252 RGD:1599383 NCBI chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 susceptibility ISO ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis ClinVar
RGD
PMID:9916796 PMID:12414817 PMID:16611712 PMID:16769747 PMID:18368028 More... RGD:1599372 NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 6:40,080,545...40,144,199
Ensembl chr 6:40,080,547...40,120,028
JBrowse link
G Ctsb cathepsin B IEP protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 IEP mRNA:increased expression:adrenal gland (rat) RGD PMID:16495212 RGD:4891416 NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
IEP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: Renal tubular acidosis
mRNA,protein:increased expression:kidney:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A858D (human)
ClinVar
CTD
RGD
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... RGD:10450480, RGD:13208945, RGD:10450481 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
G Slc4a4 solute carrier family 4 member 4 susceptibility ISO DNA:point mutations: ; 1043A>C, 1678G>A
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:18614622 PMID:10545938 RGD:61794 NCBI chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
JBrowse link
autosomal recessive osteopetrosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car2 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 chr 2:86,741,625...86,756,766
Ensembl chr 2:86,741,626...86,756,818
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 chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
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 chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Atp6v1c2 ATPase H+ transporting V1 subunit C2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 6:40,080,545...40,144,199
Ensembl chr 6:40,080,547...40,120,028
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:4116984 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Distal renal tubular acidosis ClinVar PMID:31959358 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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 (Diego blood group) 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 OMIM
ClinVar
PMID:893429 PMID:1378323 PMID:1419785 PMID:1520883 PMID:1678289 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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:9916796 PMID:12414817 PMID:12566520 PMID:12579397 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
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 chr 4:66,760,159...66,842,110
Ensembl chr 4:66,760,159...66,842,110
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar
RGD
PMID:25741868 PMID:35738466 PMID:17409310 RGD:13208934 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chr 4:66,824,958...66,831,070 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 Slc4a1 solute carrier family 4 member 1 (Diego blood group) 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 OMIM
ClinVar
PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 4, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229
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 (Diego blood group) ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with normal red cell morphology ClinVar PMID:15211439 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
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 chr14:18,841,289...19,293,297
Ensembl chr14:18,845,159...19,272,883
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Nutritional and Metabolic Diseases 6780
      disease of metabolism 6780
        inherited metabolic disorder 4684
          renal tubular transport disease 99
            renal tubular acidosis 11
              Distal Renal Tubular Acidosis + 7
              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 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        genetic disease 11315
          inherited metabolic disorder 4684
            renal tubular transport disease 99
              renal tubular acidosis 11
                Distal Renal Tubular Acidosis + 7
                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