Term Name: mitochondrial trifunctional protein deficiency 2
Synonyms: MTPD2
Definition: A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.
Ontology: Human Disease [DOID:0060999]   ( DOID:0060999 )

Relationships
is a type of: mitochondrial trifunctional protein deficiency