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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;   congenital myopathy, neuropathy, and deafness
 primary_id: OMIM:617519
 alt_id: RDO:9001749
For additional species annotation, visit the Alliance of Genome Resources.


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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 Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar
OMIM
PMID:25741868 PMID:28540413 PMID:29861105 NCBI chr 1:84,168,494...84,254,679
Ensembl chr 1:84,168,495...84,254,645
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        muscular disease 1168
          Congenital Myopathy with Neuropathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          Otorhinolaryngologic Diseases 1158
            auditory system disease 744
              Hearing Disorders 604
                Hearing Loss 600
                  Deafness 277
                    Congenital Myopathy with Neuropathy and Deafness 1
paths to the root