OBO ID: DOID:14365
Term Name: systemic primary carnitine deficiency disease Search Ontology:
Synonyms:
  • carnitine transporter deficiency
  • carnitine uptake defect
  • deficiency of plasma-membrane carnitine transporter
  • primary carnitine deficiency
  • renal carnitine transport defect
Definition: An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. http://en.wikipedia.org/wiki/Carnitine_deficiency
References:
  • ICD10CM:E71.41
  • ICD9CM:277.81
  • MESH:C536778
  • NCI:C98864
  • OMIM:212140
  • SNOMEDCT_US_2023_03_01:21764004
  • UMLS_CUI:C0342788
Ontology: Human Disease   ( DOID:14365 )
Relationships
is a type of:
OTHER systemic primary carnitine deficiency disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC22A5 Carnitine deficiency, systemic primary 212140
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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