Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital disorder of glycosylation type IIc | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Rambam Hasharon syndrome | ClinVar | PMID:16455955 more ... | DEEAH Syndrome | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Deeah syndrome | ClinVar | PMID:25741868 more ... | fetal akinesia deformation sequence syndrome 1 | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar | PMID:17686188 and PMID:28492532 | genetic disease | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28118382 | hypertrophic cardiomyopathy | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar | PMID:28492532 | hypertrophic cardiomyopathy 4 | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4 | ClinVar | | intellectual disability | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | | multiple acyl-CoA dehydrogenase deficiency | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency and severe neonatal type | ClinVar | PMID:25741868 and PMID:32761064 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA | | ISO | MADD (Homo sapiens) | 8554872 | ClinVar more ... | ClinVar | PMID:25741868 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - MGI
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