Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar | PMID:23339108 more ... | ataxia telangiectasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar | PMID:23807571 more ... | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | preterm premature rupture of the membranes | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Preterm premature rupture of the membranes | ClinVar | PMID:15367487 | |