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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13612249
Species: Homo sapiens
RGD Object: Variant
Symbol: CV534423
Name: NC_000023.11:g.(?_32216896)_(32698018_?)del
Acc ID: DOID:11723
Term: Duchenne muscular dystrophy
Definition: A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy "DO" "DO", http://omim.org/entry/300377 "DO" "DO", http://www.genome.gov/19518854 "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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV534423 IAGP 8554872ClinVarClinVar Annotator: match by term: Duchenne muscular dystrophyPMID:12674656 PMID:18055393 PMID:20485447 PMID:22090376 PMID:27206868 PMID:28492532
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