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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 22A
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Accession:DOID:0081354 term browser browse the term
Definition:A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. (DO)
Synonyms:exact_synonym: CMYO22A;   CMYP22A;   congenital myopathy 22A, classic
 broad_synonym: Congenital Myopathy 22;   SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE
 alt_id: DOID:9006585
 xref: MIM:620351;   MONDO:0957247


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                congenital myopathy 22A 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        peripheral nervous system disease 4399
          neuropathy 4187
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1358
                  myopathy 1049
                    congenital myopathy 252
                      congenital myopathy 22A 1
paths to the root