Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11621523 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11618142 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11579391 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:26467025, PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11615437 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11579739 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11658725 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8639345 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:25741868 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11544668 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:25741868 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11612676 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11579792 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11644770 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11648045 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11613647 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11543668 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:25741868 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11613860 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11645811 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8639343 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:15221789 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:9688602 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:12461690 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11615844 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11654360 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8639348 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:18414213 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11578862 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11617627 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:10330340 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11652842 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:10052057 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8639346 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:10330340 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8639330 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:16650086 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11614370 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8659138 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:15689361 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11616096 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:9688603 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:25741868 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8659140 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:16141003 more ... | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11655101 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11580495 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8657500 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:18414213, PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:10408230 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:25741868, PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:11580890 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy | | ISO | RGD:8659141 | 9068941 | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive | ClinVar | PMID:25741868, PMID:28492532 | autosomal recessive limb-girdle muscular dystrophy type 2B | | ISO | RGD:38469637 | 9068941 | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B | ClinVar | PMID:25741868, PMID:31263448 | Cardiac Arrhythmias | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Cardiac arrhythmias | ClinVar | PMID:10330340 more ... | congenital muscular dystrophy | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Congenital muscular dystrophy | ClinVar | PMID:10330340 more ... | genetic disease | | ISO | RGD:11642186 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:11639136 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | isolated elevated serum creatine phosphokinase levels | | ISO | RGD:8639334 | 9068941 | ClinVar Annotator: match by term: Elevated serum creatine phosphokinase | ClinVar | PMID:16141003 more ... | isolated elevated serum creatine phosphokinase levels | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Elevated serum CPK | ClinVar | PMID:10330340 more ... | migraine | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Migraine headaches | ClinVar | PMID:10330340 more ... | Mobility Limitation | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Difficulty walking | ClinVar | PMID:10330340 more ... | Muscle Weakness | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Muscle weakness | ClinVar | PMID:10330340 more ... | muscular dystrophy | | ISO | RGD:11633686 | 9068941 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:15733273 more ... | muscular dystrophy | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:10330340 more ... | myopathy | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:10330340 more ... | myopathy | | ISO | RGD:13611986 | 9068941 | ClinVar Annotator: match by term: Myopathy | ClinVar | PMID:25741868 | Paresthesia | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Paresthesias | ClinVar | PMID:10330340 more ... | progressive muscular atrophy | | ISO | RGD:8600656 | 9068941 | ClinVar Annotator: match by term: Progressive spinal muscular atrophy | ClinVar | PMID:10330340 more ... | | 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Imported Disease Annotations - OMIM
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