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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal dominant familial periodic fever | | IAGP | RGD:151759077 | 8554872 | ClinVar Annotator: match by term: TNF receptor-associated periodic fever syndrome (TRAPS) | ClinVar | PMID:28492532 | developmental and epileptic encephalopathy 21 | | IAGP | RGD:126727024 | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 21 | ClinVar | PMID:28492532 | Hyperphosphatemic Familial Tumoral Calcinosis 1 | | IAGP | RGD:14395239 | 8554872 | ClinVar Annotator: match by term: Hyperphosphatemic familial tumoral calcinosis 1 | ClinVar | PMID:25378588, PMID:29389098 | Klippel-Feil syndrome 3 | | IAGP | RGD:126727024 | 8554872 | ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant | ClinVar | PMID:28492532 | Neurodevelopmental Disorders | | IAGP | RGD:40889627 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | peroxisome biogenesis disorder 2B | | IAGP | RGD:26906232 | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B | ClinVar | PMID:28492532 | peroxisome biogenesis disorder 2B | | IAGP | RGD:151801366 | 8554872 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B | ClinVar | PMID:28492532 | Temtamy syndrome | | IAGP | RGD:126922868 | 8554872 | ClinVar Annotator: match by term: Temtamy syndrome | ClinVar | PMID:28492532 | Temtamy syndrome | | IAGP | RGD:126727024 | 8554872 | ClinVar Annotator: match by term: Temtamy syndrome | ClinVar | PMID:28492532 | Temtamy syndrome | | IAGP | RGD:26888978 | 8554872 | ClinVar Annotator: match by term: Temtamy syndrome | ClinVar | PMID:28492532 | |