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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:early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
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Accession:DOID:0111333 term browser browse the term
Definition:A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. (DO)
Synonyms:exact_synonym: CMYO10A;   CMYP10A;   EMARDD;   MEGF10-related myopathy;   congenital myopathy 10A;   congenital myopathy 10A, severe variant;   myopathy, areflexia, respiratory distress, and dysphagia, early-onset
 xref: GARD:12199;   MIM:614399;   MONDO:0013731;   ORDO:439212


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early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO ClinVar Annotator: match by term: MEGF10-related myopathy OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr18:52,803,292...52,953,431
Ensembl chr18:52,847,781...52,950,675 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        Respiration Disorders 480
          early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 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
                      early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
paths to the root