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| Term | mitochondrial trifunctional protein deficiency | ID (Ontology) | DOID:0111277 (Human Disease) |
| Definition | A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from several 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. | ||
| Also Known As | "MTPD" ; "TFP deficiency" ; "TFPD" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ inherited metabolic disorder | |__lipid metabolism disorder____| mitochondrial trifunctional protein deficiency 7 rec. |__mitochondrial trifunctional protein deficiency 1 2 rec. |__mitochondrial trifunctional protein deficiency 2 2 rec. |
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| Is a |
autosomal recessive disease lipid metabolism disorder |
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External Crossreferences & Linkouts
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GARD:3684 MESH:C566945 MIM:PS609015 NCI:C98991 ORDO:746 SNOMEDCT_US_2023_03_01:237999008 UMLS_CUI:C1969443 |
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