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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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
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:20574985 PMID:28492532 NCBI chr10:39,654,771...39,717,592
Ensembl chr10:39,655,455...39,719,312 		JBrowse link
G Cdc42se2 CDC42 small effector 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:40,054,393...40,122,915
Ensembl chr10:40,054,400...40,122,915 		JBrowse link
G Csf2 colony stimulating factor 2 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070 		JBrowse link
G Fnip1 folliculin interacting protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:39,786,687...39,870,188 JBrowse link
G Hint1 histidine triad nucleotide binding protein 1 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:40,208,236...40,211,981
Ensembl chr10:40,208,223...40,211,975 		JBrowse link
G Il3 interleukin 3 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:39,620,535...39,622,973
Ensembl chr10:39,620,563...39,622,973 		JBrowse link
G Lyrm7 LYR motif containing 7 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:40,183,061...40,201,992
Ensembl chr10:40,183,078...40,201,992 		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 chr10:39,435,227...39,464,134
Ensembl chr10:39,435,227...39,464,188 		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 chr10:39,390,578...39,405,322
Ensembl chr10:39,390,581...39,405,311 		JBrowse link
G Rapgef6 Rap guanine nucleotide exchange factor 6 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:39,875,322...40,039,929
Ensembl chr10:39,875,371...40,039,929 		JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660 		JBrowse link
G Slc22a4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Renal carnitine transport defect ClinVar PMID:20574985 PMID:28492532 NCBI chr10:39,334,972...39,373,508 JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO DNA:missense mutations:cds:p.S28I, p.Y447C (human)
ClinVar Annotator: match by term: Renal carnitine transport defect
ClinVar Annotator: match by OMIM:212140
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:2199596 PMID:2216472 PMID:2235122 PMID:3215194 PMID:3974805 PMID:9536098 PMID:9634512 PMID:9700600 PMID:9700603 PMID:9826541 PMID:9916797 PMID:10051646 PMID:10072434 PMID:10425211 PMID:10454528 PMID:10480371 PMID:10545605 PMID:10559218 PMID:10612840 PMID:10679939 PMID:11058897 PMID:11715001 PMID:12183691 PMID:12204000 PMID:12210323 PMID:12408185 PMID:12409266 PMID:14605509 PMID:14665638 PMID:15107849 PMID:15303004 PMID:15523054 PMID:15617188 PMID:15714519 PMID:16333318 PMID:16437728 PMID:16602102 PMID:16652335 PMID:16830263 PMID:16931768 PMID:17126586 PMID:17213842 PMID:17576681 PMID:17594400 PMID:17703373 PMID:18337137 PMID:18673259 PMID:19141711 PMID:19208393 PMID:19238580 PMID:19419416 PMID:20027113 PMID:20074989 PMID:20208395 PMID:20574985 PMID:21126579 PMID:21864509 PMID:21922592 PMID:22116472 PMID:22494076 PMID:23090741 PMID:23379544 PMID:23430798 PMID:23430858 PMID:23430869 PMID:23520115 PMID:23653224 PMID:23757202 PMID:23798014 PMID:23963628 PMID:24033266 PMID:24516753 PMID:24517888 PMID:24746540 PMID:24997454 PMID:25132046 PMID:25224063 PMID:25525159 PMID:25665836 PMID:25741868 PMID:25846890 PMID:25961151 PMID:26075114 PMID:26190315 PMID:26252091 PMID:26350513 PMID:26589311 PMID:26828774 PMID:26990548 PMID:27181684 PMID:27320645 PMID:27581592 PMID:27896095 PMID:27931018 PMID:28074886 PMID:28492532 PMID:28554332 PMID:28711408 PMID:28753539 PMID:28841266 PMID:28857146 PMID:29132460 PMID:29165669 PMID:29790872 PMID:30609409 PMID:30838026 PMID:30863740 PMID:30904546 PMID:31187905 PMID:31364285 PMID:31864849, PMID:12408185 RGD:1580611 NCBI chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      musculoskeletal system disease 5637
        muscular disease 1186
          systemic primary carnitine deficiency disease 13
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                systemic primary carnitine deficiency disease 13
paths to the root