FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome ID (Ontology) DOID:0111333 (Human Disease)
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.
Also Known As "congenital myopathy 10A" ; "EMARDD" ; "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset"
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DO.org
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Data Class Field Records
Human Disease Models (FBhh)  DOID       1
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 Genes Human Disease Models
 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome       1      1
 for disease ribbon | early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome       1       --
 model of | early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
myopathy                         |
 |__congenital myopathy__________|
                                 early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome  2 rec.
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Is a autosomal recessive disease
congenital myopathy
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Synonyms
  • "congenital myopathy 10A" EXACT
    "EMARDD" EXACT OMO:0003012
    "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset" EXACT
Secondary IDs
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GARD:12199
MIM:614399
ORDO:439212