Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | frontometaphyseal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 | ClinVar | PMID:27426733 | frontometaphyseal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 | ClinVar | PMID:27426733 | frontometaphyseal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 | ClinVar | PMID:25741868 | frontometaphyseal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 | ClinVar | PMID:25741868 more ... | frontometaphyseal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 | ClinVar | | frontometaphyseal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 | ClinVar | | frontometaphyseal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 2 | ClinVar | PMID:27426733 | 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 | PMID:28492532 | 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 | 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 | | 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 | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:25741868 | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:25741868 more ... | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:20186786 more ... | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:25741868 | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:20186786 | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:25741868 | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:25741868 more ... | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:25741868 | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:20186786 more ... | Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar | PMID:25741868 | Opsismodysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Delayed skeletal maturation | ClinVar | PMID:25741868 | |