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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 palmitoyltransferase I deficiency
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Accession:DOID:0090129 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. (DO)
Synonyms:exact_synonym: CARNITINE PALMITOYL TRANSFERASE 1 DEFICIENCY;   CARNITINE PALMITOYLTRANSFERASE TYPE I DEFICIENCY;   CPT 1A Deficiency;   CPT DEFICIENCY, HEPATIC, TYPE IA;   CPT Deficiency, Hepatic, Type I;   CPT I deficiency;   CPT1A deficiency;   Carnitine Palmitoyltransferase IA Deficiency;   L-CPT1 deficiency;   carnitine palmitoyl transferase 1A deficiency;   carnitine palmitoyl transferase IA deficiency;   carnitine palmitoyltransferase 1 deficiency;   hepatic carnitine palmitoyl transferase 1 deficiency;   hepatic carnitine palmitoyl transferase I deficiency;   hepatic carnitine palmitoyltransferase 1 deficiency;   liver form of carnitine palmitoyltransferase deficiency
 primary_id: MESH:C535588
 alt_id: OMIM:255120
 xref: GARD:1120;   ICD10CM:E71.3;   ORDO:156


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          carnitine palmitoyltransferase I deficiency 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          inherited metabolic disorder 6214
            carbohydrate metabolic disorder 3267
              glucose metabolism disease 2071
                hypoglycemia 49
                  carnitine palmitoyltransferase I deficiency 1
paths to the root