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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | adrenoleukodystrophy | | IAGP | RGD:14710872 | 8554872 | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar | PMID:28492532 | autistic disorder | | IAGP | RGD:14351525 | 8554872 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | creatine transporter deficiency | | IAGP | RGD:26898679 | 8554872 | ClinVar Annotator: match by term: Creatine transporter deficiency | ClinVar | PMID:18047645 more ... | severe congenital encephalopathy due to MECP2 mutation | | IAGP | RGD:26896983 | 8554872 | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly | ClinVar | PMID:15351775 more ... | severe congenital encephalopathy due to MECP2 mutation | | IAGP | RGD:13818653 | 8554872 | ClinVar Annotator: match by term: Encephalopathy more ... | ClinVar | PMID:15351775 more ... | syndromic X-linked intellectual disability Lubs type | | IAGP | RGD:14399337 | 8554872 | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar | PMID:25741868 | X-linked Emery-Dreifuss muscular dystrophy 1 | | IAGP | RGD:26906776 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar | PMID:28492532 | X-linked Emery-Dreifuss muscular dystrophy 1 | | IAGP | RGD:14713347 | 8554872 | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 1, X-linked | ClinVar | PMID:28492532 | |