Term Name: mitochondrial trifunctional protein deficiency 1
Synonyms: MTPD1
Definition: A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3.
Ontology: Human Disease [DOID:0070619]   ( DOID:0070619 )

Relationships
is a type of: mitochondrial trifunctional protein deficiency