Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | basal cell carcinoma | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:19726788 more ... | genetic disease | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | medulloblastoma | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Medulloblastoma | ClinVar | PMID:19726788 more ... | microcephaly | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | Multiple Basal Cell Carcinoma | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Basal cell carcinoma and multiple | ClinVar | PMID:25741868 and PMID:28492532 | Pallister-Hall-like Syndrome | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:24033266 more ... | pleomorphic xanthoastrocytoma | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | Winter Shortland Temple Syndrome | | ISO | SMO (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:16531740 more ... | |