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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 22B
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Accession:DOID:0081355 term browser browse the term
Definition:A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. (DO)
Synonyms:exact_synonym: CMYP22B;   congenital myopathy 22B, severe fetal
 broad_synonym: SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE
 primary_id: OMIM:620369

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congenital myopathy 22B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Congenital myopathy 22B, severe fetal ClinVar
OMIM		 PMID:26700687 PMID:28492532 NCBI chrNW_004936541:4,541,061...4,570,212
Ensembl chrNW_004936541:4,543,102...4,569,862 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    Developmental Disease 12601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11794
        genetic disease 11473
          monogenic disease 9661
            autosomal genetic disease 8948
              autosomal recessive disease 6294
                congenital myopathy 22B 1
Path 2
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 14164
      nervous system disease 12398
        peripheral nervous system disease 3906
          neuropathy 3722
            neuromuscular disease 2910
              muscular disease 2052
                muscle tissue disease 1235
                  myopathy 959
                    congenital myopathy 238
                      congenital myopathy 22B 1
paths to the root