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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: 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Megf10 multiple EGF-like domains 10 ISO ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | ClinVar Annotator: match by term: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17236770 PMID:17576681 PMID:22101682 More... NCBI chr18:50,605,231...50,755,441
Ensembl chr18:50,605,656...50,754,456 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital myopathy 38
        early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    congenital myopathy 38
                      early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
paths to the root