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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:Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
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Accession:DOID:9007464 term browser browse the term
Synonyms:exact_synonym: proximal RTA, autosomal recessive
 primary_id: MESH:C567038
 alt_id: OMIM:604278
For additional species annotation, visit the Alliance of Genome Resources.


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Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a4 solute carrier family 4 member 4 ISO ClinVar Annotator: match by OMIM:604278
ClinVar Annotator: match by term: Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Neurodevelopmental Disorders 4582
        intellectual disability 2131
          Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.