|
General Information
|
| Term |
mitochondrial trifunctional protein deficiency 1 |
ID (Ontology) |
DOID:0070619 (Human Disease) |
| 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.The mutation affects enzyme activity due to a deficiency in all three catalytic activities of the mitochondrial trifunctional protein. |
| Also Known As |
"MTPD1" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes | Human Disease Models |
|---|
mitochondrial trifunctional protein deficiency 1 | 1 | 1 | for disease ribbon | mitochondrial trifunctional protein deficiency 1 | 1 | -- | model of | mitochondrial trifunctional protein deficiency 1 | 1 | -- |
|
Relationships