Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar | PMID:29068549 | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar | PMID:25741868 and PMID:28492532 | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar | PMID:25741868 and PMID:28400947 | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar | | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar | PMID:22486404 more ... | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar | PMID:22486404 more ... | asphyxiating thoracic dystrophy | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar | PMID:25741868 more ... | asphyxiating thoracic dystrophy 1 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar | PMID:22486404 more ... | connective tissue disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 more ... | connective tissue disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | connective tissue disease | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | cranioectodermal dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | | cranioectodermal dysplasia | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | cranioectodermal dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Sensenbrenner syndrome | ClinVar | PMID:22486404 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:22486404 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:16199547 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:16199547 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:20817137 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:24123776 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:28492532 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:28492532 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:25741868 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:25741868 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:17576681 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:28492532 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:17576681 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:25741868 and PMID:28492532 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:25741868 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:25741868 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:28332779 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:22486404 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:22486404 and PMID:28492532 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:20817137 and PMID:24027799 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:25741868 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:22486404 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:21473986 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:28492532 and PMID:33369054 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:22987818 | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:25741868 more ... | cranioectodermal dysplasia 2 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cranioectodermal dysplasia 2 | ClinVar | PMID:26691894 | Ellis-Van Creveld syndrome | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar | PMID:25741868 and PMID:28492532 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:24123776 more ... | 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 | genetic disease | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 and PMID:28492532 | multiple epiphyseal dysplasia | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia and Dominant | ClinVar | | multiple epiphyseal dysplasia | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple Epiphyseal Dysplasia and Dominant | ClinVar | PMID:25741868 and PMID:28492532 | multiple epiphyseal dysplasia 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA and BILATERAL HEREDITARY | ClinVar | PMID:25741868 and PMID:28492532 | multiple epiphyseal dysplasia 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: MICROEPIPHYSEAL DYSPLASIA and BILATERAL HEREDITARY | ClinVar | | Short-Rib Thoracic Dysplasia 20 with Polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7/20 with polydactyly and digenic | ClinVar | PMID:25741868 more ... | short-rib thoracic dysplasia 6 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly | ClinVar | PMID:25741868 more ... | short-rib thoracic dysplasia 6 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly | ClinVar | PMID:25741868 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:25908617 | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:25741868 and PMID:28400947 | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:21473986 | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:25741868 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short rib polydactyly syndrome 5 | ClinVar | PMID:17576681 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:28492532 | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 and PMID:28492532 | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:25741868 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY | ClinVar | PMID:22486404 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:25741868 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY | ClinVar | PMID:22486404 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:25741868 more ... | short-rib thoracic dysplasia 7 with or without polydactyly | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 7 with or without polydactyly | ClinVar | PMID:17935248 and PMID:21473986 | |