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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:carnitine-acylcarnitine translocase deficiency
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Accession:DOID:0111585 term browser browse the term
Definition:A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in SLC25A20 on chromosome 3p21.31. (DO)
Synonyms:exact_synonym: CACT Deficiency;   CACTD;   Carnitine-Acylcarnitine Carrier Deficiency
 primary_id: MESH:C562812
 alt_id: OMIM:212138
 xref: GARD:1123;   NCI:C133086;   ORDO:159
For additional species annotation, visit the Alliance of Genome Resources.


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carnitine-acylcarnitine translocase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by OMIM:212138
ClinVar Annotator: match by term: Carnitine acylcarnitine translocase deficiency
OMIM
ClinVar
PMID:1598097, PMID:9399886, PMID:9686371, PMID:10384384, PMID:10697964, PMID:11350184, PMID:11592821, PMID:12559850, PMID:12801121, PMID:12859414, PMID:15057979, PMID:15365988, PMID:16919490, PMID:17277394, PMID:21605995, PMID:24088670, PMID:25459972, PMID:25614308, PMID:25741868, PMID:26238931, PMID:27066551, PMID:28492532, PMID:31319225 NCBI chr 8:117,455,308...117,476,762
Ensembl chr 8:117,455,262...117,476,734
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        lipid metabolism disorder 900
          carnitine-acylcarnitine translocase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                carnitine-acylcarnitine translocase deficiency 1
paths to the root

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