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GENE - TERM ANNOTATION REPORT

RGD ID: 1558549
Species: Mus musculus
RGD Object: Gene
Symbol: Megf10
Name: multiple EGF-like-domains 10
Acc ID: DOID:0111333
Term: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
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)
Definition Source(s): PMID:22101682 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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