Search Ontology:
Human Disease
mitochondrial trifunctional protein deficiency 1
- Term ID
- DOID:0070619
- Synonyms
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- 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 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models