Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | chromosome 9p deletion syndrome | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Chromosome 9p deletion syndrome | ClinVar | PMID:25741868 | Developmental Disabilities | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:10873393 more ... | Generalized Epilepsy | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Generalized epilepsy | ClinVar | PMID:10873393 more ... | genetic disease | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11592811 more ... | glycine encephalopathy | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar | PMID:10798358 more ... | Glycine Encephalopathy 1 | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Glycine encephalopathy 1 | ClinVar | PMID:16450403 more ... | Neurodevelopmental Disorders | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | obesity | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Obesity | ClinVar | PMID:10873393 more ... | Smith-Magenis syndrome | | ISO | GLDC (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Smith-Magenis Syndrome-like | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIM
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