Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | acromesomelic dysplasia, Hunter-Thompson type | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acromesomelic dysplasia 2C and Hunter-Thompson type | ClinVar | PMID:29322508 | acromesomelic dysplasia-3 | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:15805157 more ... | brachydactyly | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly | ClinVar | PMID:22374147 more ... | brachydactyly type A1D | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A1D | ClinVar | PMID:25758993 | brachydactyly type A2 | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Brachydactyly type A2 | ClinVar | PMID:14523231 more ... | genetic disease | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | primary ovarian insufficiency | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Premature ovarian insufficiency | ClinVar | PMID:25741868 | primary pulmonary hypertension | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Idiopathic pulmonary arterial hypertension | ClinVar | PMID:22374147 more ... | Primary Pulmonary Hypertension, 3 | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonary hypertension more ... | ClinVar | PMID:25741868 and PMID:28492532 | Pulmonary Arterial Hypertension | | ISO | BMPR1B (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar | PMID:25741868 and PMID:30029678 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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