Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cardiomyopathy | | ISO | RGD:8569225 | 9068941 | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar | | chronic kidney disease | | ISO | RGD:28899203 | 9068941 | ClinVar Annotator: match by term: Chronic kidney disease | ClinVar | PMID:25741868 | Dwarfism | | ISO | RGD:21404992 | 9068941 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | Familial Amyloid Polyneuropathies | | ISO | RGD:8566439 | 9068941 | ClinVar Annotator: match by term: Familial amyloid polyneuropathy type III | ClinVar | PMID:2123470 more ... | Familial HDL Deficiency | | ISO | RGD:11599806 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11606227 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | PMID:23209431 | Familial HDL Deficiency | | ISO | RGD:28899625 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11606053 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11604996 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11601835 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11613478 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11605816 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11601653 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11613808 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | PMID:23209431, PMID:28492532 | Familial HDL Deficiency | | ISO | RGD:11614589 | 9068941 | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary | ClinVar | PMID:21820994 more ... | Familial HDL Deficiency | | ISO | RGD:14689380 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | PMID:25034063 | Familial HDL Deficiency | | ISO | RGD:11620323 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | PMID:1901417 more ... | Familial HDL Deficiency | | ISO | RGD:28899835 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11604406 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:28899629 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:28906227 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | PMID:17303779 more ... | Familial HDL Deficiency | | ISO | RGD:28909896 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | PMID:27135400, PMID:27785680 | Familial HDL Deficiency | | ISO | RGD:28906221 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:28903961 | 9068941 | ClinVar Annotator: match by term: Familial HDL deficiency | ClinVar | | Familial HDL Deficiency | | ISO | RGD:11614498 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:28899629 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11606227 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | PMID:23209431 | Hypoalphalipoproteinemias | | ISO | RGD:8566452 | 9068941 | ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar | PMID:9931341 | Hypoalphalipoproteinemias | | ISO | RGD:11613478 | 9068941 | ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11606053 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11613808 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | PMID:23209431, PMID:28492532 | Hypoalphalipoproteinemias | | ISO | RGD:11604406 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11614498 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11614589 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | PMID:21820994 more ... | Hypoalphalipoproteinemias | | ISO | RGD:11605816 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:28909896 | 9068941 | ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar | PMID:27135400, PMID:27785680 | Hypoalphalipoproteinemias | | ISO | RGD:28903961 | 9068941 | ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:28906227 | 9068941 | ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar | PMID:17303779 more ... | Hypoalphalipoproteinemias | | ISO | RGD:11604996 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11620323 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | PMID:1901417 more ... | Hypoalphalipoproteinemias | | ISO | RGD:28899835 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11599806 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:28906221 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:11601835 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | | Hypoalphalipoproteinemias | | ISO | RGD:14689380 | 9068941 | ClinVar Annotator: match by term: High density lipoprotein deficiency | ClinVar | PMID:25034063 | Hypoalphalipoproteinemias | | ISO | RGD:13520899 | 9068941 | ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar | PMID:8240372 | Hypoalphalipoproteinemias | | ISO | RGD:28899625 | 9068941 | ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar | | Tangier disease | | ISO | RGD:11601653 | 9068941 | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar | | Tangier disease | | ISO | RGD:8566446 | 9068941 | ClinVar Annotator: match by term: Tangier disease | ClinVar | PMID:8282791 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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