Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | BH4-deficient hyperphenylalaninemia A | | ISO | RGD:8648349 | 9068941 | ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A | ClinVar | PMID:11708866 more ... | congenital central hypoventilation syndrome | | ISO | RGD:8600955 | 9068941 | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar | PMID:14532329 | congenital central hypoventilation syndrome | | ISO | RGD:21072451 | 9068941 | ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar | | genetic disease | | ISO | RGD:8595048 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10408782 more ... | genetic disease | | ISO | RGD:8555718 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11914042 more ... | genetic disease | | ISO | RGD:8639676 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:11486900 more ... | genetic disease | | ISO | RGD:8648334 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10598814 more ... | genetic disease | | ISO | RGD:8595046 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10234516 more ... | genetic disease | | ISO | RGD:8639656 | 9068941 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10479481 more ... | Hyperphenylalaninemia, Non-Pku Mild | | ISO | RGD:8595064 | 9068941 | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD | ClinVar | PMID:10234516 more ... | Hyperphenylalaninemia, Non-Pku Mild | | ISO | RGD:8595073 | 9068941 | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU MILD | ClinVar | PMID:10527663 more ... | intellectual disability | | ISO | RGD:8648089 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:38596660 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:38596661 | 9068941 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | Marfanoid Mental Retardation Syndrome, Autosomal | | ISO | RGD:8595074 | 9068941 | ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability | ClinVar | PMID:10234516 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - OMIM
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