Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | anemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anemia | ClinVar | PMID:25741868 | cherubism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fibrous dysplasia of jaw | ClinVar | PMID:28492532 | cherubism | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fibrous dysplasia of jaw | ClinVar | PMID:28492532 | clubfoot | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CLUBFOOT more ... | ClinVar | PMID:25741868 | Congenital Macroglossia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Giant tongue | ClinVar | PMID:25741868 | fissured tongue | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Plicated tongue | ClinVar | PMID:25741868 | 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 | 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 | | 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:25188243 | 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 | Hepatomegaly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hepatomegaly | ClinVar | PMID:25741868 | hypertrophic cardiomyopathy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:25741868 | hypoglycemia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypoglycemia | ClinVar | PMID:25741868 | Intracranial Hemorrhages | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intracranial Hemorrhages | ClinVar | PMID:25741868 | lymphoma | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lymphoma | ClinVar | PMID:25741868 | Macroglossia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Macroglossia | ClinVar | PMID:25741868 | microcephaly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 and PMID:33941880 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 and PMID:28492532 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 and PMID:28492532 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 more ... | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:33941880 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:29892088 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:33276791 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:29760529 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:33941880 | RAUCH-STEINDL SYNDROME | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rauch-Steindl syndrome | ClinVar | PMID:25741868 | Retrognathia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: retrognathism | ClinVar | PMID:25741868 | thrombocytopenia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Thrombocytopenia | ClinVar | PMID:25741868 | ventricular septal defect | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ventricular septal defect | ClinVar | PMID:25741868 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:11252005 more ... | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:28492532 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:25741868 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:25741868 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:25741868 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:28492532 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:25741868 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:25741868 | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:11252005 more ... | Wittwer Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wittwer syndrome | ClinVar | PMID:11252005 more ... | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:28492532 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:25741868 and PMID:28492532 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:25741868 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:25741868 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:25741868 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Mental retardation more ... | ClinVar | PMID:28492532 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:25741868 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:25741868 | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:11252005 more ... | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:11252005 more ... | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | PMID:11252005 more ... | Wolf-Hirschhorn syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome | ClinVar | | |