Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar | PMID:10071185 more ... | Bunion | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Bunion | ClinVar | PMID:10071185 more ... | Cognitive Dysfunction | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Cognitive impairment | ClinVar | PMID:10071185 more ... | Congenital Macroglossia | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Congenital macroglossia | ClinVar | PMID:10071185 more ... | developmental and epileptic encephalopathy 42 | | ISO | RGD:38597961 | 9068941 | ClinVar Annotator: match by term: Epileptic encephalopathy more ... | ClinVar | PMID:25741868 | Developmental Disabilities | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Developmental delay | ClinVar | PMID:10071185 more ... | epilepsy | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Epilepsy | ClinVar | PMID:10071185 more ... | genetic disease | | ISO | RGD:40886773 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:13530177 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:8646473 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11156223 more ... | Hallux Valgus | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Hallux valgus | ClinVar | PMID:10071185 more ... | head and neck squamous cell carcinoma | | ISO | RGD:21068000 | 9068941 | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar | | Hirschsprung Disease 1 | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Hirschsprung disease 1 | ClinVar | PMID:10071185 more ... | Hirschsprung's disease | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar | PMID:10071185 more ... | intellectual disability | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Mental-retardation | ClinVar | PMID:10071185 more ... | Macroglossia | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Macroglossia | ClinVar | PMID:10071185 more ... | Malocclusion, Angle Class III | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Hapsburg jaw | ClinVar | PMID:10071185 more ... | Prognathism | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Prognathism | ClinVar | PMID:10071185 more ... | prostate cancer | | ISO | RGD:9686776 | 9068941 | ClinVar Annotator: match by term: Prostate cancer | ClinVar | PMID:23265383 | visual epilepsy | | ISO | RGD:8555629 | 9068941 | ClinVar Annotator: match by term: Seizure | ClinVar | PMID:10071185 more ... | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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References