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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | IAGP | RGD:156170599 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156285490 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:152127802 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:155948095 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:156138130 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | RGD:152117106 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | IAGP | RGD:156062258 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Keratolytic Winter Erythema | | IAGP | RGD:127261838 | 8554872 | ClinVar Annotator: match by term: Keratolytic winter erythema | ClinVar | PMID:25741868, PMID:28492532 | Keratolytic Winter Erythema | | IAGP | RGD:127303552 | 8554872 | ClinVar Annotator: match by term: Keratolytic winter erythema | ClinVar | PMID:25741868, PMID:28492532 | Neurodevelopmental Disorders | | IAGP | RGD:14698858 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | Squalene Synthase Deficiency | | IAGP | RGD:14350059 | 8554872 | ClinVar Annotator: match by term: SQUALENE SYNTHASE DEFICIENCY | ClinVar | PMID:25741868, PMID:29909962 | Squalene Synthase Deficiency | | IAGP | RGD:13804062 | 8554872 | ClinVar Annotator: match by term: Squalene synthase deficiency | ClinVar | PMID:29909962 | thoracic aortic aneurysm | | IAGP | RGD:150333719 | 8554872 | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar | PMID:32748548 | |