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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 6
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Accession:DOID:0080256 term browser browse the term
Definition:A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. (DO)
Synonyms:exact_synonym: PRLTS6
 primary_id: OMIM:617565


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Perrault syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28449065 NCBI chr17:27,913,117...27,919,167 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10166
      Perrault syndrome 9
        Perrault syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6624
            Otorhinolaryngologic Diseases 1671
              auditory system disease 938
                Hearing Disorders 764
                  Hearing Loss 758
                    Deafness 365
                      Perrault syndrome 9
                        Perrault syndrome 6 1
paths to the root