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congenital myopathy 19 - Ontology Report - Rat Genome Database

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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 19
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Accession:DOID:0081351 term browser browse the term
Definition:A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CMYO19;   CMYP19;   MYOSCO;   Progressive Congenital Myopathy with Scoliosis
 broad_synonym: PAX7-RELATED CONDITION
 alt_id: DOID:9002481
 xref: EFO:0010565;   MIM:618578;   MONDO:0032821

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congenital myopathy 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax7 paired box 7 ISO ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis | ClinVar Annotator: match by term: PAX7-related condition OMIM
ClinVar		 PMID:25741868 PMID:31092906 PMID:32214227 PMID:35499749 NCBI chrNW_004624764:3,853,055...3,951,182
Ensembl chrNW_004624764:3,853,055...3,947,521 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      musculoskeletal system disease 7383
        bone disease 3686
          bone structure disease 121
            scoliosis 64
              congenital myopathy 19 1
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        peripheral nervous system disease 4083
          neuropathy 3905
            neuromuscular disease 3011
              muscular disease 2085
                muscle tissue disease 1256
                  myopathy 962
                    congenital myopathy 244
                      congenital myopathy 19 1
paths to the root