Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | arteriovenous malformations of the brain | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Cerebral arteriovenous malformation | ClinVar | PMID:15879500 more ... | congenital disorder of glycosylation Iu | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:23109149 and PMID:28492532 | developmental and epileptic encephalopathy | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar | PMID:18469812 more ... | developmental and epileptic encephalopathy 31A | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Epileptic encephalopathy more ... | ClinVar | PMID:18469812 more ... | early infantile epileptic encephalopathy | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar | PMID:18469812 more ... | Epistaxis | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spontaneous and recurrent epistaxis | ClinVar | PMID:15879500 more ... | Galloway-Mowat syndrome 1 | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar | PMID:12673790 more ... | genetic disease | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15517393 more ... | GNE myopathy | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing | ClinVar | PMID:15266205 more ... | hereditary hemorrhagic telangiectasia | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10545596 more ... | hereditary hemorrhagic telangiectasia | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10545596 more ... | hereditary hemorrhagic telangiectasia | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10545596 more ... | hereditary hemorrhagic telangiectasia | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar | PMID:10545596 more ... | Hereditary Hemorrhagic Telangiectasia, Type 1 | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10545596 more ... | Hereditary Hemorrhagic Telangiectasia, Type 2 | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Oral cavity telangiectasia | ClinVar | PMID:25741868 | interstitial lung disease | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Interstitial pneumonitis | ClinVar | PMID:25741868 and PMID:28492532 | juvenile polyposis syndrome | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Juvenile Polyposis | ClinVar | PMID:28492532 | Leber congenital amaurosis | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar | PMID:25741868 more ... | Moyamoya Disease 2 | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Moyamoya disease 2 | ClinVar | PMID:25741868 | primary coenzyme Q10 deficiency 7 | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | ClinVar | PMID:22368301 more ... | Primary Pulmonary Hypertension, 1 | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10625079 more ... | Pulmonary Arterial Hypertension | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10625079 more ... | Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION and HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED | ClinVar | PMID:14684682 more ... | systemic lupus erythematosus | | ISO | ENG (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Systemic lupus erythematosus | ClinVar | PMID:17576681 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
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