|
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
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A disease that involving errors in metabolic processes of building or degradation of molecules. |
|
DOID:0050177
|
monogenic disease
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A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
|
DOID:630
|
genetic disease
|
A disease that has_material_basis_in genetic variations in the human genome. |
|
DOID:0050739
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autosomal genetic disease
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A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
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DOID:0050737
|
autosomal recessive disease
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An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
|
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:0050573
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2-hydroxyglutaric aciduria
|
An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. |
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DOID:0111619
|
combined D-2- and L-2-hydroxyglutaric aciduria
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A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. |
