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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 17
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Accession:DOID:0081349 term browser browse the term
Definition:A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: CMYO17;   CMYP17;   MYOD1-RELATED CONDITION;   MYODRIF;   MYOPATHY, CONGENITAL, DUE TO MYOD1 DEFICIENCY;   congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
 alt_id: DOID:9009026
 xref: MIM:618975;   MONDO:0033548


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congenital myopathy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: MYOD1-related condition | ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies OMIM
ClinVar		 PMID:25741868 PMID:26733463 PMID:28492532 PMID:30403323 PMID:31260566 NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:106,021,161...106,023,871 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Pathologic Processes 8430
        Disease Attributes 918
          Facies 525
            congenital myopathy 17 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    congenital myopathy 252
                      congenital myopathy 17 1
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