Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acute megakaryocytic leukemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar | | Bilateral Striatal Necrosis with Dystonia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Striatal necrosis more ... | ClinVar | PMID:12205655 more ... | blindness | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Blindness | ClinVar | PMID:25741868 | Cognitive Dysfunction | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cognitive impairment | ClinVar | PMID:25741868 | dilated cardiomyopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar | PMID:24088041 and PMID:26633545 | dystonia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Dystonia | ClinVar | PMID:24088041 and PMID:26633545 | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber optic atrophy | ClinVar | PMID:10072046 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber optic atrophy | ClinVar | PMID:20301353 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber optic atrophy | ClinVar | PMID:12205655 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber's optic atrophy | ClinVar | | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar | PMID:20301353 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber hereditary optic neuropathy | ClinVar | PMID:12736867 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber optic atrophy and dystonia | ClinVar | PMID:10894222 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber hereditary optic neuropathy | ClinVar | PMID:20301353 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber hereditary optic neuropathy | ClinVar | PMID:11133798 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber hereditary optic neuropathy | ClinVar | PMID:20301353 and PMID:30143805 | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber hereditary optic neuropathy | ClinVar | PMID:15922297 more ... | Leber hereditary optic neuropathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber hereditary optic neuropathy | ClinVar | PMID:12112086 more ... | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:32906214 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:10072046 more ... | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:12205655 more ... | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh's disease | ClinVar | PMID:18524835 and PMID:21457906 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:24088041 and PMID:26633545 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:19555656 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:21504270 and PMID:21838605 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:11241853 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:11781695 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:25741868 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:15637703 | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:10894222 more ... | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:12736867 more ... | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:20301353 more ... | Leigh disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome | ClinVar | PMID:15922297 more ... | Leigh Syndrome Due To Mitochondrial Complex I Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency | ClinVar | PMID:10894222 more ... | Leigh Syndrome Due To Mitochondrial Complex I Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leigh syndrome due to mitochondrial complex I deficiency | ClinVar | PMID:12205655 more ... | MELAS syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myopathy more ... | ClinVar | PMID:11781695 | MELAS syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile myopathy more ... | ClinVar | | Mitochondrial Cytopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial cytopathy | ClinVar | PMID:28027978 | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10072046 more ... | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:20301353 and PMID:30143805 | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:11133798 more ... | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:12112086 more ... | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:11781695 | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:10894222 more ... | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial diseases | ClinVar | PMID:25741868 | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial diseases | ClinVar | | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial diseases | ClinVar | | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial diseases | ClinVar | | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial diseases | ClinVar | | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial diseases | ClinVar | | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:20301353 more ... | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:32906214 | mitochondrial metabolism disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mitochondrial disease | ClinVar | PMID:12205655 more ... | oxyphilic adenoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Oxyphilic adenoma | ClinVar | PMID:21555623 | Parkinson's disease 6 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PARKINSON DISEASE 6 and EARLY-ONSET | ClinVar | PMID:18524835 and PMID:21457906 | Pearson syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pearson syndrome | ClinVar | PMID:32906214 and PMID:33633954 | |