systemic primary carnitine deficiency disease

Go to external page http://purl.obolibrary.org/obo/DOID_14365


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. [ url:http://en.wikipedia.org/wiki/Carnitine_deficiency http://purl.obolibrary.org/obo/ECO_0007638 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:212140
  • SNOMEDCT_US_2021_03_01:21764004
  • NCI:C98864
  • MESH:C536778
  • ICD9CM:277.81
  • UMLS_CUI:C0342788
  • ICD10CM:E71.41
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

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.

has alternative id

DOID:1668

has exact synonym

renal carnitine transport defect

primary carnitine deficiency

carnitine transporter deficiency

carnitine uptake defect

deficiency of plasma-membrane carnitine transporter

has obo namespace

disease_ontology

id

DOID:14365

Term relations