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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: MIM: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:28492532 PMID:31448845 NCBI chrNW_004936487:16,523,571...16,537,242
Ensembl chrNW_004936487:16,523,571...16,537,248 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    Nutritional and Metabolic Diseases 7053
      disease of metabolism 7053
        inherited metabolic disorder 5588
          Carnitine Acetyltransferase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14615
    Pathological Conditions, Signs and Symptoms 11544
      Signs and Symptoms 9713
        Neurologic Manifestations 9401
          sensory system disease 6652
            eye disease 3423
              ocular motility disease 238
                third cranial nerve disease 2
                  Carnitine Acetyltransferase Deficiency 1
paths to the root