Search Ontology:
Human Disease

mitochondrial trifunctional protein deficiency 1

Term ID
DOID:0070619
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. https://pubmed.ncbi.nlm.nih.gov/12754706/
References
Ontology
Human Disease   ( DOID:0070619 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models