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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:Perrault Syndrome 5
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Accession:DOID:9000124 term browser browse the term
Synonyms:exact_synonym: PRLTS5
 primary_id: OMIM:616138


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Perrault Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      Perrault syndrome 9
        Perrault Syndrome 5 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            Otorhinolaryngologic Diseases 1660
              auditory system disease 942
                Hearing Disorders 770
                  Hearing Loss 765
                    Deafness 369
                      Perrault syndrome 9
                        Perrault Syndrome 5 1
paths to the root