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 involves 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:0111143 | mitochondrial complex V (ATP synthase) deficiency | A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. |
| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. |
| DOID:0070462 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0070462 |
| is_a | DOID:0060333 | DOID:0070462 |
| is_a | DOID:700 | DOID:0070462 |
| is_a | DOID:655 | DOID:0070462 |
| is_a | DOID:630 | DOID:0070462 |
| is_a | DOID:0111143 | DOID:0070462 |
| is_a | DOID:4 | DOID:0070462 |
| is_a | DOID:0014667 | DOID:0070462 |
| is_a | DOID:0050739 | DOID:0070462 |
| is_a | DOID:0050177 | DOID:0070462 |
