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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:MITCHELL SYNDROME
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Accession:DOID:9002088 term browser browse the term
Definition:A progressive disorder caused by heterozygous mutation in the ACOX1 gene and characterized by episodic demyelination, sensorimotor polyneuropathy, and hearing loss.
Synonyms:exact_synonym: MITCH
 broad_synonym: ACOX1-RELATED CONDITION;   ACOX1-RELATED DISORDER
 pimary_id: OMIM:618960
For additional species annotation, visit the Alliance of Genome Resources.


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MITCHELL SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Mitchell syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32169171 NCBI chr10:101,406,197...101,431,242
Ensembl chr10:101,406,197...101,431,232 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      auditory system disease 976
        Hearing Disorders 801
          Hearing Loss 797
            MITCHELL SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          Otorhinolaryngologic Diseases 1557
            auditory system disease 976
              Hearing Disorders 801
                Hearing Loss 797
                  MITCHELL SYNDROME 1
paths to the root