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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 OMIM:614399
ClinVar Annotator: match by synonym: Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant
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:17236770 PMID:22101682 PMID:22371254 PMID:23453856 PMID:23954233 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26802438 PMID:28492532 PMID:28498977 NCBI chr18:52,215,652...52,366,212
Ensembl chr18:52,215,682...52,366,238
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital myopathy 30
        early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital myopathy 30
                      early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 1
paths to the root