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Imported Disease Annotations - ClinVarObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Rhoa | Squirrel | Aicardi-Goutieres Syndrome 1 | | ISO | RGD:1347797 | 8554872 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar | PMID:16845398|PMID:28492532 | Rhoa | Squirrel | autosomal recessive limb-girdle muscular dystrophy type 2P | | ISO | RGD:1347797 | 8554872 | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2P | ClinVar | PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532 | Rhoa | Squirrel | carnitine-acylcarnitine translocase deficiency | | ISO | RGD:1347797 | 8554872 | ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency | ClinVar | PMID:20234391|PMID:25614308|PMID:25934851|PMID:28492532 | Rhoa | Squirrel | ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES | | ISO | RGD:1347797 | 8554872 | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN more ... | ClinVar | PMID:25741868|PMID:28492532|PMID:31570889|PMID:31821646 | Rhoa | Squirrel | genetic disease | | ISO | RGD:1347797 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | Rhoa | Squirrel | glycine encephalopathy | | ISO | RGD:1347797 | 8554872 | ClinVar Annotator: match by term: Glycine encephalopathy | ClinVar | PMID:28492532 | Rhoa | Squirrel | Pierson syndrome | | ISO | RGD:1347797 | 8554872 | ClinVar Annotator: match by term: Pierson syndrome | ClinVar | PMID:15367484|PMID:28492532 | |