Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-methylglutaconic aciduria type 7b | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: 3-methylglutaconic aciduria and type VIIB | ClinVar | PMID:28492532 | cerebral folate receptor alpha deficiency | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodegeneration due to cerebral folate transport deficiency | ClinVar | PMID:28492532 | intellectual disability | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | |