Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618850 http://purl.bioontology.org/ontology/OMIM/618850
Preferred Name	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
Synonyms	HVLI BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HVLI BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY
prefLabel	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA
Gene Symbol	HVLI BCT2 BCAT2
Scope Statement	Caused by mutation in the branched chain aminotransferase-2 gene (BCAT2, 113530.0001) [MOLECULAR BASIS] Response to pharmacologic dose of B6 (the cofactor for BCAT2) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071088 http://purl.bioontology.org/ontology/OMIM/MTHU071091 http://purl.bioontology.org/ontology/OMIM/MTHU079096 http://purl.bioontology.org/ontology/OMIM/MTHU043125 http://purl.bioontology.org/ontology/OMIM/MTHU071089 http://purl.bioontology.org/ontology/OMIM/MTHU071093 http://purl.bioontology.org/ontology/OMIM/MTHU071090 http://purl.bioontology.org/ontology/OMIM/MTHU036348 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU071092 See more See less
tui	T047
Gene Locus	19q13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618850
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5394277
OMIM Entry Type	3
OMIM MimType Value	pound

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