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systemic primary carnitine deficiency disease

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

Synonyms: renal carnitine transport defect, primary carnitine deficiency, carnitine transporter deficiency, carnitine uptake defect, deficiency of plasma-membrane carnitine transporter

Term info

database cross reference
  • OMIM:212140
  • SNOMEDCT_US_2018_03_01:21764004
  • UMLS_CUI:C0342788
  • NCI:C98864
  • ICD9CM:277.81
  • ICD10CM:E71.41
  • ICD9CM_2006:277.81
  • MESH:C536778
Subsets

NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has alternative id

DOID:1668

has obo namespace

disease_ontology

id

DOID:14365

Term relations