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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 2 with Progressive Nerve Deafness
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Accession:DOID:9000683 term browser browse the term
Synonyms:exact_synonym: DRTA2;   RTA with progressive deafness;   Renal Tubular Acidosis with Progressive Nerve Deafness;   distal renal tubular acidosis with progressive deafness;   distal renal tubular acidosis with progressive nerve deafness;   distal renal tubular acidosis with progressive sensorineural hearing loss;   renal tubular acidosis, autosomal recessive, with progressive nerve deafness
 primary_id: MESH:C562897
 alt_id: OMIM:267300
For additional species annotation, visit the Alliance of Genome Resources.


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Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness term browser
Symbol Object Name 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 OMIM:267300
ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
ClinVar
OMIM
PMID:9916796 PMID:12414817 PMID:12566520 PMID:12579397 PMID:16611712 PMID:16769747 PMID:17669226 PMID:18368028 PMID:18798332 PMID:22509993 PMID:23923981 PMID:24033266 PMID:24448499 PMID:25285676 PMID:25296721 PMID:25741868 PMID:26453614 PMID:26467025 PMID:27247958 PMID:28188436 PMID:28233610 PMID:28492532 PMID:28893421 PMID:29310826 PMID:30558562 NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      auditory system disease 851
        inner ear disease 638
          sensorineural hearing loss 598
            Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          Otorhinolaryngologic Diseases 1266
            auditory system disease 851
              Hearing Disorders 711
                Hearing Loss 707
                  sensorineural hearing loss 598
                    Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness 1
paths to the root