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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: CMYP2B;   congenital myopathy 2B, severe infantile, autosomal recessive
 primary_id: OMIM:620265


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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 chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                congenital myopathy 2B 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    congenital myopathy 239
                      congenital myopathy 2B 1
paths to the root