WormMine: DiseaseOntology DOID:0090129 carnitine palmitoyltransferase I deficiency Disease Ontology

Name
Disease Ontology

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:3146	lipid metabolism disorder	An inherited metabolic disorder that involves the creation and degradation of lipids.
DOID:0090129	carnitine palmitoyltransferase I deficiency	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.

Name	Type
carnitine palmitoyl transferase 1A deficiency	synonym
carnitine palmitoyl transferase IA deficiency	synonym
CPT I deficiency	synonym
CPT1A deficiency	synonym
hepatic carnitine palmitoyl transferase 1 deficiency	synonym
hepatic carnitine palmitoyl transferase I deficiency	synonym
hepatic CPT deficiency type I	synonym
L-CPT1 deficiency	synonym

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