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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


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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Nutritional and Metabolic Diseases 8236
      disease of metabolism 8236
        inherited metabolic disorder 6213
          Familial Hypokalemia 1
            Hypokalemic Tubulopathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      nervous system disease 14061
        Neurologic Manifestations 10043
          sensory system disease 6948
            Otorhinolaryngologic Diseases 1736
              auditory system disease 993
                Hearing Disorders 820
                  Hearing Loss 815
                    Deafness 375
                      Hypokalemic Tubulopathy and Deafness 1
paths to the root