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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:Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
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Accession:DOID:9002779 term browser browse the term
Synonyms:exact_synonym: PNMHH
 primary_id: OMIM:614369;   RDO:9000679



show annotations for term's descendants           Sort by:
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 More... NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        peripheral nervous system disease 4087
          Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        Neurologic Manifestations 9994
          sensory system disease 6892
            Otorhinolaryngologic Diseases 1718
              laryngeal disease 69
                Voice Disorders 4
                  Hoarseness 3
                    Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
paths to the root