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ONTOLOGY REPORT - ANNOTATIONS


Term:systemic primary carnitine deficiency disease
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Accession:DOID:14365 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CDSP;   CUD;   Carnitine Uptake Deficiency;   Carnitine uptake defect;   SCD;   carnitine transporter deficiency;   carnitine transporter, plasma-membrane, deficiency of;   primary carnitine deficiency;   renal carnitine transport defect;   systemic carnitine deficiency;   systemic carnitine deficiency due to defect in renal reabsorption of carnitine;   systemic primary carnitine deficiency
 primary_id: MESH:C536778
 alt_id: OMIM:212140
 xref: ICD10CM:E71.41;   ICD9CM:277.81;   NCI:C98864
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systemic primary carnitine deficiency disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf167 ring finger protein 167 JBrowse link 10 57,268,331 57,272,667 RGD:8554872
G Slc22a5 solute carrier family 22 member 5 JBrowse link 10 39,201,101 39,228,090 RGD:1580611
RGD:8554872
RGD:7240710
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      musculoskeletal system disease 5304
        muscular disease 1019
          systemic primary carnitine deficiency disease 2
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        peripheral nervous system disease 2182
          neuropathy 2006
            neuromuscular disease 1578
              muscular disease 1019
                systemic primary carnitine deficiency disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.