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:700 | mitochondrial metabolism disease | An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. |
| DOID:0060536 | mitochondrial complex I deficiency | A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. |
| DOID:0112065 | nuclear type mitochondrial complex I deficiency | A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. |
| DOID:0112095 | nuclear type mitochondrial complex I deficiency 28 | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0112065 | DOID:0112095 |
| is_a | DOID:0050737 | DOID:0112095 |
| is_a | DOID:655 | DOID:0112095 |
| is_a | DOID:4 | DOID:0112095 |
| is_a | DOID:700 | DOID:0112095 |
| is_a | DOID:0014667 | DOID:0112095 |
| is_a | DOID:0050177 | DOID:0112095 |
| is_a | DOID:0050739 | DOID:0112095 |
| is_a | DOID:0060536 | DOID:0112095 |
| is_a | DOID:630 | DOID:0112095 |
