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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 Acetyltransferase Deficiency
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Accession:DOID:9008371 term browser browse the term
Synonyms:primary_id: MESH:C563249
 alt_id: OMIM:606175


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Carnitine Acetyltransferase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRAT carnitine O-acetyltransferase ISO ClinVar Annotator: match by term: CARNITINE ACETYLTRANSFERASE DEFICIENCY ClinVar PMID:25741868 PMID:28492532 PMID:31448845 NCBI chr 9:54,566,708...54,580,301
Ensembl chr 9:54,566,407...54,580,025 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Nutritional and Metabolic Diseases 7181
      disease of metabolism 7181
        inherited metabolic disorder 5525
          Carnitine Acetyltransferase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 17774
    Pathological Conditions, Signs and Symptoms 12020
      Signs and Symptoms 9897
        Neurologic Manifestations 9572
          sensory system disease 6587
            eye disease 3363
              ocular motility disease 238
                third cranial nerve disease 2
                  Carnitine Acetyltransferase Deficiency 1
paths to the root