| Metadata | |
|---|---|
| ID | DOID:0060999 |
| Name | mitochondrial trifunctional protein deficiency 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/12754706/ |
| Xrefs | |
| Synonyms |
MTPD2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |