WormMine: DiseaseOntology DOID:0050733 methylmalonic aciduria and homocystinuria type cblG 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:0060159	organic acidemia	An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
DOID:14749	methylmalonic acidemia	An organic acidemia that involves an accumulation of methylmalonic acid in the blood.
DOID:0050733	methylmalonic aciduria and homocystinuria type cblG	A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.

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