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DO Term : mitochondrial trifunctional protein deficiency [DOID:0111277] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • PS609015,
  • MESH:C566945,
  • NCI:C98991,
  • TFPD,
  • MTPD,
  • ORDO:746,
  • GARD:3684,
  • OMIM:PS609015,
  • SNOMEDCT_US_2023_03_01:237999008,
  • UMLS_CUI:C1969443,
  • TFP deficiency
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents