mitochondrial trifunctional protein deficiency

mitochondrial trifunctional protein deficiency

http://purl.obolibrary.org/obo/DOID_0111277

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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/12754706 url:https://www.ncbi.nlm.nih.gov/pubmed/12838198 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/7738175 ]

Synonyms: TFPD TFP deficiency MTPD

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Term information

database cross reference

MESH:C566945
NCI:C98991
SNOMEDCT_US_2023_03_01:237999008
ORDO:746
UMLS_CUI:C1969443
GARD:3684
MIM:PS609015

Subsets

DO_rare_slim, NCIthesaurus

acronym

TFPD

acronym

MTPD

has obo namespace

disease_ontology

DOID:0111277

Term relations

Subclass of:

autosomal recessive disease
lipid metabolism disorder
disease has feature some metabolic acidosis
has material basis in some autosomal recessive inheritance
disease has feature some hypoglycemia
disease has feature some neuropathy
disease has feature some cardiomyopathy
disease has feature some myopathy
disease has feature some liver disease
has phenotype some Pigmentary retinopathy