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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsl6 acyl-CoA synthetase long chain family member 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,153,586...3,208,935
Ensembl chrNW_004936647:3,153,485...3,213,582 		JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,669,141...3,734,515
Ensembl chrNW_004936647:3,669,209...3,734,491 		JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,081,896...3,083,864
Ensembl chrNW_004936647:3,081,896...3,083,864 		JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,329,097...3,428,170
Ensembl chrNW_004936647:3,329,103...3,428,242 		JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,843,544...3,849,428 JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,102,922...3,104,758 JBrowse link
G LOC101975630 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chrNW_004936647:2,825,814...2,874,786
Ensembl chrNW_004936647:2,825,814...2,874,774 		JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,812,284...3,837,754
Ensembl chrNW_004936647:3,812,284...3,837,732 		JBrowse link
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chrNW_004936647:2,930,748...2,963,168
Ensembl chrNW_004936647:2,930,494...2,964,550 		JBrowse link
G Pdlim4 PDZ and LIM domain 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chrNW_004936647:2,891,025...2,905,197
Ensembl chrNW_004936647:2,890,510...2,905,203 		JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:28492532 NCBI chrNW_004936647:3,434,409...3,647,116
Ensembl chrNW_004936647:3,434,577...3,647,456 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chrNW_004936677:2,766,724...2,771,111
Ensembl chrNW_004936677:2,766,907...2,770,225 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Carnitine Deficiency, Systemic | ClinVar Annotator: match by term: Carnitine transporter deficiency | ClinVar Annotator: match by term: Renal carnitine transport defect | ClinVar Annotator: match by term: Systemic primary carnitine deficiency disease OMIM
ClinVar		 PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 More... NCBI chrNW_004936647:2,774,063...2,798,585
Ensembl chrNW_004936647:2,773,768...2,798,511 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        muscular disease 2043
          systemic primary carnitine deficiency disease 13
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            neuromuscular disease 2899
              muscular disease 2043
                systemic primary carnitine deficiency disease 13
paths to the root