Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | developmental and epileptic encephalopathy 1 | | ISO | CAD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy | ClinVar | PMID:25741868 more ... | developmental and epileptic encephalopathy 50 | | ISO | CAD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 50 | ClinVar | PMID:16199547 more ... | epilepsy | | ISO | CAD (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | ISO | CAD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:17576681 more ... | Tatton-Brown-Rahman syndrome | | ISO | CAD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome | ClinVar | PMID:28492532 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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