Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:carnitine palmitoyltransferase II deficiency
go back to main search page
Accession:DOID:0060235 term browser browse the term
Definition:A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)
Synonyms:exact_synonym: CPT II deficiency;   CPT-II;   CPT2 deficiency;   carnitine palmitoyl transferase 2 deficiency;   carnitine palmitoyltransferase 2 deficiency;   carnitine palmitoyltransferase deficiency type 2;   infantile carnitine palmitoyltransferase II deficiency;   lethal neonatal carnitine palmitoyltransferase II deficiency;   muscle form of carnitine palmitoyltransferase deficiency
 primary_id: MESH:C535589
 alt_id: RDO:0000806
 xref: NCI:C114766;   ORDO:157
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
carnitine palmitoyltransferase II deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
OMIM:255110 | OMIM:600649 | OMIM:608836
ClinVar
MouseDO
PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10868782, PMID:10873395, PMID:11855939, PMID:12200419, PMID:12410208, PMID:12560872, PMID:12673791, PMID:12707442, PMID:14605500, PMID:14615409, PMID:15363638, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:15811315, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18306170, PMID:18363739, PMID:18550408, PMID:18577113, PMID:18645163, PMID:18925671, PMID:19239046, PMID:19762733, PMID:19763152, PMID:20301431, PMID:20307669, PMID:20543534, PMID:20661589, PMID:20810031, PMID:20934285, PMID:20952238, PMID:21227726, PMID:21697855, PMID:21709843, PMID:21913903, PMID:22406018, PMID:22494076, PMID:22652984, PMID:22841441, PMID:22854105, PMID:22899091, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:23757202, PMID:23911907, PMID:24033266, PMID:24398345, PMID:24503134, PMID:24517888, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:26010953, PMID:26467025, PMID:26537576, PMID:26636822, PMID:27123472, PMID:27525900, PMID:27629963, PMID:27974123, PMID:28074886, PMID:28492532, PMID:28516040, PMID:28649538, PMID:28779239, PMID:28801073, PMID:28871440, PMID:29744303, PMID:30094188, PMID:30311386 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Czib CXXC motif containing zinc binding protein ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency ClinVar NCBI chr 5:127,489,349...127,498,734
Ensembl chr 5:127,489,418...127,497,293
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Infantile term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by OMIM:600649
ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile
OMIM
ClinVar
PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10873395, PMID:11855939, PMID:12410208, PMID:12673791, PMID:12707442, PMID:14605500, PMID:14615409, PMID:15363638, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:15811315, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18306170, PMID:18363739, PMID:18550408, PMID:18577113, PMID:18645163, PMID:18925671, PMID:19762733, PMID:20301431, PMID:20543534, PMID:20661589, PMID:20810031, PMID:20934285, PMID:20952238, PMID:21227726, PMID:21697855, PMID:21709843, PMID:21913903, PMID:22494076, PMID:22652984, PMID:22841441, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:23757202, PMID:24033266, PMID:24398345, PMID:24503134, PMID:24517888, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:26467025, PMID:26636822, PMID:27123472, PMID:27629963, PMID:27974123, PMID:28074886, PMID:28492532, PMID:28516040, PMID:28779239, PMID:30094188 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal
ClinVar Annotator: match by OMIM:608836
OMIM
ClinVar
PMID:736528, PMID:835844, PMID:2647738, PMID:2762996, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:9758712, PMID:10090476, PMID:10398215, PMID:10862092, PMID:11855939, PMID:12560872, PMID:12673791, PMID:12707442, PMID:15642848, PMID:15776096, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17709715, PMID:17936304, PMID:18363739, PMID:18550408, PMID:20301431, PMID:20810031, PMID:21227726, PMID:21709843, PMID:21913903, PMID:22652984, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:24033266, PMID:24398345, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25827434, PMID:25919294, PMID:27123472, PMID:27629963, PMID:28492532, PMID:28516040, PMID:28779239 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
Late-Onset Carnitine Palmitoyltransferase II Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
ClinVar Annotator: match by OMIM:255110
OMIM
ClinVar
PMID:736528, PMID:835844, PMID:1086878, PMID:1528846, PMID:1999498, PMID:2647738, PMID:2762996, PMID:7711730, PMID:8358442, PMID:8651281, PMID:8682496, PMID:8786066, PMID:9309694, PMID:9562964, PMID:9600456, PMID:10090476, PMID:10398215, PMID:10734268, PMID:10862092, PMID:10873395, PMID:11855939, PMID:12410208, PMID:12673791, PMID:12707442, PMID:15622536, PMID:15642848, PMID:15754283, PMID:15776096, PMID:16225172, PMID:16615913, PMID:16781677, PMID:16996287, PMID:17372854, PMID:17651973, PMID:17709715, PMID:17936304, PMID:18363739, PMID:18550408, PMID:19762733, PMID:20301431, PMID:20661589, PMID:20810031, PMID:21227726, PMID:21913903, PMID:22652984, PMID:22854105, PMID:22975760, PMID:23184072, PMID:23322164, PMID:23700290, PMID:24033266, PMID:24398345, PMID:24602495, PMID:25326635, PMID:25741868, PMID:25919294, PMID:27123472, PMID:27629963, PMID:28492532, PMID:28516040, PMID:28779239 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        lipid metabolism disorder 899
          carnitine palmitoyltransferase II deficiency 2
            Carnitine Palmitoyltransferase II Deficiency, Infantile 1
            Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
            Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            lipid metabolism disorder 899
              carnitine palmitoyltransferase II deficiency 2
                Carnitine Palmitoyltransferase II Deficiency, Infantile 1
                Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal 1
                Late-Onset Carnitine Palmitoyltransferase II Deficiency 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.