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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:Hypokalemic Tubulopathy and Deafness
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Accession:DOID:9003275 term browser browse the term
Definition:This disease is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness.
Synonyms:exact_synonym: HKTD
 primary_id: OMIM:619406
For additional species annotation, visit the Alliance of Genome Resources.



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Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO ClinVar Annotator: match by term: HYPOKALEMIC TUBULOPATHY AND DEAFNESS ClinVar
OMIM
PMID:33811157 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        inherited metabolic disorder 4659
          Familial Hypokalemia 1
            Hypokalemic Tubulopathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          Otorhinolaryngologic Diseases 1649
            auditory system disease 1068
              Hearing Disorders 799
                Hearing Loss 795
                  Deafness 394
                    Hypokalemic Tubulopathy and Deafness 1
paths to the root