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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:Distal Renal Tubular Acidosis 3, Autosomal Recessive
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Accession:DOID:9005808 term browser browse the term
Synonyms:exact_synonym: DRTA3;   RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS;   RTADR;   autosomal recessive distal renal tubular acidosis-3 with or without sensorineural hearing loss
 narrow_synonym: autosomal recessive renal tubular acidosis with preserved hearing;   distal renal tubular acidosis, autosomal recessive, with late-onset sensorineural hearing loss
 broad_synonym: distal RTA, autosomal recessive;   distal renal tubular acidosis, recessive
 primary_id: OMIM:602722
 alt_id: MESH:C537758;   MESH:C566428
For additional species annotation, visit the Alliance of Genome Resources.



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Distal Renal Tubular Acidosis 3, Autosomal Recessive term browser
Symbol Object Name 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: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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      auditory system disease 975
        inner ear disease 694
          sensorineural hearing loss 652
            Distal Renal Tubular Acidosis 3, Autosomal Recessive 3
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1556
            auditory system disease 975
              Hearing Disorders 800
                Hearing Loss 796
                  sensorineural hearing loss 652
                    Distal Renal Tubular Acidosis 3, Autosomal Recessive 3
paths to the root