Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Charcot-Marie-Tooth disease dominant intermediate C | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and dominant intermediate C | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | mandibuloacral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia | ClinVar | | mandibuloacral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia | ClinVar | | mandibuloacral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia | ClinVar | | mandibuloacral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia | ClinVar | | mandibuloacral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia | ClinVar | | mandibuloacral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:18435794 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:25741868 and PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:17576681 more ... | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:18435794 more ... | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:19504603 and PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:25741868 and PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:25741868 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:19383993 and PMID:25741868 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lipodystrophy more ... | ClinVar | PMID:12913070 more ... | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:18414213 and PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:18435794 more ... | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:19680556 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:24169522 and PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:19680556 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:28492532 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:20814950 | mandibuloacral dysplasia type B lipodystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy | ClinVar | PMID:12913070 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:21488301 more ... | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:16297189 more ... | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:20101687 more ... | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:25741868 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:17576681 more ... | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:25741868 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:25741868 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:19504603 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:25741868 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:25741868 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal hypokinesia sequence due to restrictive dermopathy | ClinVar | PMID:12913070 more ... | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:25741868 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:18414213 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:18435794 more ... | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:24169522 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:18671782 and PMID:25741868 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:25741868 and PMID:28492532 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:19680556 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:19680556 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:19504603 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:16297189 | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | | restrictive dermopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lethal tight skin contracture syndrome | ClinVar | PMID:20101687 | |