WormBase Tree Display for DO_term: DOID:0111277
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| DOID:0111277 | Name | mitochondrial trifunctional protein deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. | ||||
| Synonym | Exact | MTPD | |||
| TFP deficiency | |||||
| TFPD | |||||
| Parent | Is_a | DOID:3146 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 609015 | |
| Attribute_of | Gene_by_orthology | WBGene00001150 | |||
| WBGene00015125 | |||||
| WBGene00020347 |
