Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acrocapitofemoral dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia | ClinVar | PMID:25741868 | acrocapitofemoral dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia | ClinVar | PMID:25741868 and PMID:28492532 | acrocapitofemoral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia | ClinVar | PMID:34530144 | acrocapitofemoral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia | ClinVar | PMID:12624140 and PMID:25741868 | acrocapitofemoral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia | ClinVar | PMID:12632327 and PMID:25741868 | acrocapitofemoral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia | ClinVar | | acrocapitofemoral dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acrocapitofemoral dysplasia | ClinVar | PMID:12632327 | alacrima, achalasia, and impaired intellectual development syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Alacrima more ... | ClinVar | PMID:28492532 | brachydactyly | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly | ClinVar | | brachydactyly type A1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:11455389 and PMID:25741868 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:11455389 more ... | brachydactyly type A1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | | brachydactyly type A1 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:25741868 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:28492532 and PMID:35846898 | brachydactyly type A1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | brachydactyly type A1 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:28492532 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly Farabee type | ClinVar | PMID:12384778 more ... | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:11455389 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:11455389 and PMID:19277064 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:11455389 and PMID:12525541 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:19277064 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:16871364 | brachydactyly type A1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1 | ClinVar | PMID:19277064 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | Hirschsprung's disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hirschsprung disease more ... | ClinVar | | myofibrillar myopathy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy | ClinVar | PMID:28492532 | Neurodevelopmental Disorders | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | paroxysmal nonkinesigenic dyskinesia 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia | ClinVar | PMID:28492532 | |