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 Transporter Deficiency;   Carnitine Uptake Deficiency;   Carnitine deficiency, systemic primary;   Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine;   Carnitine transporter, plasma-membrane, deficiency of;   Carnitine uptake defect;   Primary Carnitine Deficiency;   Renal Carnitine Transport Defect;   SCD;   Systemic carnitine deficiency
 primary_id: MESH:C536778;   RDO:0002464
 alt_id: OMIM:212140
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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 14823
    disease of anatomical entity 13997
      musculoskeletal system disease 3984
        muscular disease 908
          systemic primary carnitine deficiency disease 2
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              muscular disease 908
                systemic primary carnitine deficiency disease 2
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