Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:14351525 | 9068941 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:21681106, PMID:30208311 | genetic disease | | ISO | RGD:13530727 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 | genetic disease | | ISO | RGD:40886553 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:8658857 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:18414213 | intellectual disability | | ISO | RGD:40814658 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:14981526 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | non-syndromic X-linked intellectual disability | | ISO | RGD:13517068 | 9068941 | ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability | ClinVar | PMID:25741868, PMID:28492532 | non-syndromic X-linked intellectual disability | | ISO | RGD:13213137 | 9068941 | ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability | ClinVar | PMID:25741868, PMID:28492532 | syndromic X-linked intellectual disability Lubs type | | ISO | RGD:14399337 | 9068941 | ClinVar Annotator: match by term: MECP2 duplication syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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