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VARIANT - TERM ANNOTATION REPORT

RGD ID: 13612254
Species: Homo sapiens
RGD Object: Variant
Symbol: CV534558
Name: NC_000023.11:g.(?_32438221)_(32614473_?)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)
CV534558 IAGP 8554872ClinVarClinVar Annotator: match by term: Duchenne muscular dystrophyPMID:17253928 PMID:19367636 PMID:21515508 PMID:28492532
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