Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Developmental Disabilities | | ISO | RGD:9850305 | 9068941 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25558065, PMID:28492532 | intellectual disability | | ISO | RGD:10401335 | 9068941 | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:11547992 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:25741868 | Niemann-Pick disease type C1 | | ISO | RGD:8560512 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:11567215 more ... | Niemann-Pick disease type C1 | | ISO | RGD:8566937 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:15465422 more ... | Niemann-Pick disease type C1 | | ISO | RGD:11619322 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:11616664 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:11623619 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | ISO | RGD:15189489 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | ISO | RGD:8560509 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:11125141 more ... | Niemann-Pick disease type C1 | | ISO | RGD:8574328 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | PMID:23352160 more ... | Niemann-Pick disease type C1 | | ISO | RGD:10052529 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | ISO | RGD:11620349 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | ISO | RGD:28874074 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | PMID:28492532 | Niemann-Pick disease type C1 | | ISO | RGD:28893864 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:11613056 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:13522543 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:28893868 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease type C1 | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:11623850 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | Niemann-Pick disease type C1 | | ISO | RGD:11608127 | 9068941 | ClinVar Annotator: match by term: Niemann-Pick disease, type C | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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References