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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 2B
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Accession:DOID:0081339 term browser browse the term
Definition:A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)
Synonyms:exact_synonym: CMYO2B;   CMYP2B;   congenital myopathy 2B, severe infantile, autosomal recessive
 xref: MIM:620265;   MONDO:0859517

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congenital myopathy 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital myopathy 2b, severe infantile, autosomal recessive ClinVar
OMIM		 PMID:10508519 PMID:12921789 PMID:15226407 PMID:15236405 PMID:17187373 More... NCBI chrNW_004936484:20,236,320...20,239,385
Ensembl chrNW_004936484:20,236,320...20,239,430 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14568
    Developmental Disease 12727
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11934
        genetic disease 11652
          monogenic disease 9921
            autosomal genetic disease 9218
              autosomal recessive disease 6513
                congenital myopathy 2B 1
Path 2
Term Annotations click to browse term
  disease 14568
    disease of anatomical entity 14269
      nervous system disease 12520
        peripheral nervous system disease 4023
          neuropathy 3842
            neuromuscular disease 3024
              muscular disease 2104
                muscle tissue disease 1276
                  myopathy 981
                    congenital myopathy 242
                      congenital myopathy 2B 1
paths to the root