MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
BCKDKD 13970
BCKDK deficiency 13970
Bckdk deficiency 13970
branched-chain KETO acid dehydrogenase KINASE deficiency 13970
branched-chain KETO acid dehydrogenase KINASE deficiency; BCKDKD http://purl.obolibrary.org/obo/MONDO_0013970
branched-chain keto acid dehydrogenase kinase deficiency 13970
autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 13970