Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


CRRD ID: 2507
Species: Rattus norvegicus
CRRD Object: Gene
Symbol: Dmd
Name: dystrophin
Acc ID: DOID:9884
Term: muscular dystrophy
Definition: A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.
Definition Source(s): MESH:D009136,,
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:10465346, PMID:11185740, PMID:1549142, PMID:20031633, PMID:2063877, PMID:24033266, PMID:9327405
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:16030524, PMID:18752307, PMID:19449031, PMID:20301298, PMID:2063877, PMID:23299919, PMID:24033266, PMID:24135430, PMID:25244321
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

PMID:21515508, PMID:24055113, PMID:25637381, PMID:28492532
 ISOCRRD:7369768554872ClinVarClinVar Annotator: match by term: Muscular dystrophy

 ISOCRRD:73697611554173CTDCTD Direct Evidence: marker/mechanism|therapeutic

PMID:10797403, PMID:17440445, PMID:20805873, PMID:22906800
Go Back to source page   Continue to Ontology report


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.