10 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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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: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:0070329 | mitochondrial DNA depletion syndrome | A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. |
| DOID:0080130 | mitochondrial DNA depletion syndrome 12a | A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0080130 |
| is_a | DOID:0070329 | DOID:0080130 |
| is_a | DOID:700 | DOID:0080130 |
| is_a | DOID:0014667 | DOID:0080130 |
| is_a | DOID:655 | DOID:0080130 |
| is_a | DOID:4 | DOID:0080130 |
| is_a | DOID:630 | DOID:0080130 |
| is_a | DOID:0050739 | DOID:0080130 |
| is_a | DOID:0050177 | DOID:0080130 |
