WormMine: DiseaseOntology DOID:14365 systemic primary carnitine deficiency disease 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 involves 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:9252	amino acid metabolic disorder	An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids.
DOID:14365	systemic primary carnitine deficiency disease	An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.

Name	Type
carnitine transporter deficiency	synonym
carnitine uptake defect	synonym
deficiency of plasma-membrane carnitine transporter	synonym
primary carnitine deficiency	synonym
renal carnitine transport defect	synonym
DOID:1668	alt_id

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