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ONTOLOGY REPORT - ANNOTATIONS


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: EMARDD;   Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset;   Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant
 primary_id: OMIM:614399
 alt_id: RDO:9000591
 xref: GARD:12199;   ORDO:439212
For additional species annotation, visit the Alliance of Genome Resources.


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early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Megf10 multiple EGF-like domains 10 JBrowse link 18 52,215,652 52,366,212 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      respiratory system disease 2405
        Respiration Disorders 249
          early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        peripheral nervous system disease 2164
          neuropathy 1988
            neuromuscular disease 1558
              muscular disease 1001
                muscle tissue disease 694
                  myopathy 558
                    congenital myopathy 28
                      early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.