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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
For additional species annotation, visit the Alliance of Genome Resources.


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 OMIM:614369
ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
OMIM
ClinVar
PMID:21480433, PMID:23806086, PMID:24088041, PMID:25741868, PMID:26257172, PMID:26752647, PMID:28492532 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        muscular disease 1223
          Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.