Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Abdominal Pain | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Abdominal pain | ClinVar | | acute intermittent porphyria | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:10453740 more ... | Acute Intermittent Porphyria, Nonerythroid Variant | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Porphyria more ... | ClinVar | PMID:10343207 more ... | acute porphyria | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Acute Porphyria | ClinVar | PMID:11055586 more ... | anxiety disorder | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Anxiety | ClinVar | PMID:25741868 | CD3epsilon deficiency | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: CD3epsilon deficiency | ClinVar | PMID:14602880 more ... | Chromosome 11, Partial Trisomy 11q | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Distal trisomy 11q | ClinVar | PMID:25741868 | congenital disorder of glycosylation | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:18414213 more ... | congenital disorder of glycosylation Ij | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J | ClinVar | PMID:18414213 more ... | congenital myasthenic syndrome 13 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Myasthenic syndrome more ... | ClinVar | PMID:18414213 more ... | Dwarfism | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Short stature | ClinVar | PMID:32581362 | genetic disease | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:26795593 more ... | glycogen storage disease Ib | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glucose-6-phosphate transport defect | ClinVar | PMID:28492532 | immunodeficiency 17 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:14602880 more ... | immunodeficiency 18 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 18 | ClinVar | PMID:14602880 more ... | immunodeficiency 19 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Immunodeficiency 19 | ClinVar | PMID:14602880 more ... | inflammatory bowel disease 28 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inflammatory bowel disease 28 | ClinVar | PMID:14602880 more ... | isolated microphthalmia 5 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar | PMID:28492532 | LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Leukoencephalopathy and porphyria-related | ClinVar | PMID:11055586 more ... | long QT syndrome 10 | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Long QT syndrome 10 | ClinVar | PMID:28492532 | RASopathy | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: RASopathy | ClinVar | PMID:28492532 | schizophrenia | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | Vomiting | | ISO | HMBS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Vomiting | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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