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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital muscular dystrophy | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related | ClinVar | | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by OMIM:613154 | ClinVar | PMID:19067344 | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:17878207 more ... | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:28492532 | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:25741868, PMID:26467025 | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:25741868, PMID:28492532 | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:17878207 more ... | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:26467025, PMID:28492532 | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:25741868 more ... | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 | ClinVar | PMID:18414213 more ... | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED | ClinVar | | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED | ClinVar | PMID:25741868 | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by OMIM:613154 | ClinVar | PMID:17436019 | congenital muscular dystrophy-dystroglycanopathy type A6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by OMIM:613154 | ClinVar | PMID:19299310 | muscular dystrophy | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:17878207 more ... | muscular dystrophy | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Muscular dystrophy | ClinVar | PMID:25741868, PMID:28492532 | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:25741868 | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:25741868, PMID:26467025 | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:17878207 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:17878207 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:26467025, PMID:28492532 | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY more ... | ClinVar | PMID:25741868 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:24709677, PMID:28492532 | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:17878207 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:25741868 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY more ... | ClinVar | PMID:25741868, PMID:28492532 | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | ClinVar | PMID:18414213 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by OMIM:608840 | ClinVar | PMID:12966029 | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by OMIM:608840 | ClinVar | PMID:12966029 more ... | muscular dystrophy-dystroglycanopathy type B6 | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY more ... | ClinVar | PMID:28492532 | retinitis pigmentosa | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar | | Walker-Warburg syndrome | | ISO | RGD:1318927 | 8554872 | ClinVar Annotator: match by term: Walker-Warburg Syndrome | ClinVar | | |