11 Parents
| 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:0050177 | monogenic disease | 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 | autosomal genetic disease | A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. |
| DOID:0050737 | autosomal recessive disease | 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:3146 | lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| DOID:700 | mitochondrial metabolism disease | An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. |
| DOID:0070540 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:3146 | DOID:0070540 |
| is_a | DOID:700 | DOID:0070540 |
| is_a | DOID:0050737 | DOID:0070540 |
| is_a | DOID:9252 | DOID:0070540 |
| is_a | DOID:0014667 | DOID:0070540 |
| is_a | DOID:655 | DOID:0070540 |
| is_a | DOID:4 | DOID:0070540 |
| is_a | DOID:630 | DOID:0070540 |
| is_a | DOID:0050739 | DOID:0070540 |
| is_a | DOID:0050177 | DOID:0070540 |
