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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:Congenital Myopathy with Neuropathy and Deafness
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Accession:DOID:9007907 term browser browse the term
Synonyms:exact_synonym: CMND;   SPTBN4-RELATED CONDITION;   congenital myopathy, neuropathy, and deafness
 primary_id: MIM:617519
 alt_id: RDO:9001749


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Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar PMID:25741868 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness | ClinVar Annotator: match by term: SPTBN4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        peripheral nervous system disease 4406
          Congenital Myopathy with Neuropathy and Deafness 2
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        Neurologic Manifestations 10461
          sensory system disease 7372
            Otorhinolaryngologic Diseases 1798
              auditory system disease 1062
                Hearing Disorders 847
                  Hearing Loss 842
                    Deafness 384
                      Congenital Myopathy with Neuropathy and Deafness 2
paths to the root