Branched-chain keto acid dehydrogenase kinase deficiency

Preferred Label : Branched-chain keto acid dehydrogenase kinase deficiency;

Symbol : BCKDKD;

CISMeF acronym : BCKDKD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Bckdk deficiency;

Prefixed ID : #614923;

Details

Origin ID

614923;

UMLS CUI

C3554078;

CISMeF manual mappings
- branched-chain keto acid dehydrogenase kinase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) [SNOMED CT concept]
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [ORDO Disease]
DO Cross reference
- branched-chain keto acid dehydrogenase kinase deficiency [DO Concept]
Genes related to phenotype
- Branched-chain alpha-keto acid dehydrogenase kinase [OMIM gene]
HPO term(s)
- Abnormal circulating branched chain amino acid concentration [HPO term]
- Autism [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency [ORDO Disease]
- branched-chain keto acid dehydrogenase kinase deficiency [DO Concept]

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