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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
OMIM:179830 | OMIM:267200 | OMIM:602722 MouseDO PMID:10973252 RGD:1599383 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 susceptibility ISO RGD PMID:9916796 RGD:1599372 NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
JBrowse link
G Ctsb cathepsin B IEP protein:decreased activity:renal proximal tubule (rat) RGD PMID:7873730 RGD:2315534 NCBI chr15:46,316,741...46,337,613
Ensembl chr15:46,316,741...46,337,612
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 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO
IEP
DNA:mutations:multiple (human)
mRNA,protein:increased expression:kidney:
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.A858D (human)
CTD PMID:9312167 PMID:23460825, PMID:22919024, PMID:10600930, PMID:22126643 RGD:10450480, RGD:13208945, RGD:10450481 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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 PMID:18614622, PMID:10545938 RGD:61794 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
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
ClinVar Annotator: match by OMIM:259730
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1301935 PMID:1542674 PMID:1928091 PMID:4624444 PMID:5041390 PMID:7627193 PMID:8127074 PMID:8128957 PMID:8834238 PMID:12566520 PMID:18060825 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:88,097,740...88,112,868
Ensembl chr 2:88,097,720...88,113,029
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: Renal Tubular Acidosis, Type I
ClinVar Annotator: match by term: Renal tubular acidosis, autosomal dominant
ClinVar
OMIM
PMID:893429 PMID:1419785 PMID:1520883 PMID:1678289 PMID:1696010 PMID:2146504 PMID:2196932 PMID:2527366 PMID:4116984 PMID:7812009 PMID:8206915 PMID:8210309 PMID:8343110 PMID:8471774 PMID:8608262 PMID:8704215 PMID:9312167 PMID:9600966 PMID:9734643 PMID:10926824 PMID:11155072 PMID:19229254 PMID:21039340 PMID:22126643 PMID:23255290 PMID:24033266 PMID:25111073 PMID:25296721 PMID:25741868 PMID:26571219 PMID:26879370 PMID:28492532 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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, distal, with progressive deafness
ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
ClinVar Annotator: match by OMIM:267300
ClinVar
OMIM
PMID:7499943 PMID:9916796 PMID:11045400 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16611712 PMID:16769747 PMID:17669226 PMID:18368028 PMID:18798332 PMID:22509993 PMID:23729491 PMID:23923981 PMID:24033266 PMID:24448499 PMID:25296721 PMID:25741868 PMID:26453614 PMID:26467025 PMID:27247958 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28893421 PMID:29310826 NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
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: Renal tubular acidosis, autosomal recessive with preserved hearing
ClinVar Annotator: match by term: Renal tubular acidosis, distal, autosomal recessive
ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:10973252 PMID:12414817 PMID:16611712 PMID:19364879 PMID:23754897 PMID:24033266 PMID:24252324 PMID:25741868 PMID:26208211 PMID:27247958 PMID:28492532 PMID:29311258 NCBI chr 4:65,736,585...65,821,916
Ensembl chr 4:65,736,585...65,818,521
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:17409310 RGD:13208934 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive ClinVar NCBI chr 4:65,800,410...65,823,205
Ensembl chr 4:65,801,505...65,807,365
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, with hemolytic anemia
ClinVar Annotator: match by OMIM:611590
OMIM
ClinVar
PMID:9207478 PMID:9312167 PMID:9854053 PMID:10926824 PMID:10942416 PMID:12087557 PMID:12938018 PMID:15211439 PMID:22126643 PMID:25741868 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, with hemolytic anemia ClinVar PMID:30028003 NCBI chr 8:80,965,734...81,125,710
Ensembl chr 8:80,965,255...81,039,246
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 null ClinVar PMID:15211439 NCBI chr10:90,296,144...90,312,401
Ensembl chr10:90,296,141...90,312,386
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: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
ClinVar Annotator: match by OMIM:604278
OMIM
ClinVar
PMID:10545938 PMID:11274232 PMID:18658147 PMID:20197274 PMID:21234596 PMID:23362273 PMID:25741868 PMID:28492532 NCBI chr14:20,476,258...20,817,042
Ensembl chr14:20,479,323...20,920,286
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        inherited metabolic disorder 2238
          renal tubular transport disease 93
            renal tubular acidosis 9
              Distal Renal Tubular Acidosis + 5
              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 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          inherited metabolic disorder 2238
            renal tubular transport disease 93
              renal tubular acidosis 9
                Distal Renal Tubular Acidosis + 5
                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