Term Name: | mitochondrial trifunctional protein deficiency 1 |
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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 ) |