Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | connective tissue disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Connective tissue disorder | ClinVar | PMID:25741868 | genetic disease | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 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 | hereditary multiple exostoses | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple congenital exostosis | ClinVar | PMID:28492532 | Paget's disease of bone 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:14672344 more ... | Paget's disease of bone 5 | | IAGP | (Homo sapiens) and (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:25108083 | Paget's disease of bone 5 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:25741868 and PMID:28492532 | Paget's disease of bone 5 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:28492532 | Paget's disease of bone 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Paget disease of bone 5 | ClinVar | PMID:19436932 more ... | Paget's disease of bone 5 | | IAGP | (Homo sapiens) more ... | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | | Paget's disease of bone 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:25741868 | Paget's disease of bone 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:106682 and PMID:12124406 | Paget's disease of bone 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:12189164 and PMID:14672344 | Paget's disease of bone 5 | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hyperphosphatasemia with bone disease | ClinVar | PMID:14672344 | trichorhinophalangeal syndrome type I | | IAGP | (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I | ClinVar | PMID:25741868 | |