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branched-chain keto acid dehydrogenase kinase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0013970

A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. [ Orphanet:308410 https://orcid.org/0000-0001-5208-3432 ]

Synonyms: BCKDKD autism - epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency branched-chain keto acid dehydrogenase kinase deficiency BCKDK deficiency

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985

exactMatch

http://www.orpha.net/ORDO/Orphanet_308410

https://omim.org/entry/614923

http://purl.obolibrary.org/obo/DOID_0090126

http://linkedlifedata.com/resource/umls/id/C3554078

has related synonym

branched-chain KETO acid dehydrogenase KINASE deficiency

Bckdk deficiency

id

MONDO:0013970

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013970