Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | fundus dystrophy | | ISO | CA4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinal dystrophy | ClinVar | PMID:30718709 | genetic disease | | ISO | CA4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Joubert syndrome 1 | | ISO | CA4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar | PMID:28492532 | megacolon | | ISO | CA4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Megacolon | ClinVar | PMID:21681106 | retinitis pigmentosa | | ISO | CA4 (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15090652 more ... | retinitis pigmentosa 17 | | ISO | CA4 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Retinitis pigmentosa 17 | ClinVar | PMID:15090652 more ... | |