Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Brain-Lung-Thyroid Syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brain-lung-thyroid syndrome | ClinVar | PMID:25741868 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | lysinuric protein intolerance | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Lysinuric protein intolerance | ClinVar | PMID:28492532 | Specific Granule Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Specific granule deficiency | ClinVar | PMID:28492532 | Specific Granule Deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Specific granule deficiency | ClinVar | PMID:11313242 more ... | |