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: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:0070330 | multiple mitochondrial dysfunctions syndrome | A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. |
| DOID:0080136 | multiple mitochondrial dysfunctions syndrome 4 | A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0070330 | DOID:0080136 |
| is_a | DOID:0050737 | DOID:0080136 |
| is_a | DOID:630 | DOID:0080136 |
| is_a | DOID:0050177 | DOID:0080136 |
| is_a | DOID:0014667 | DOID:0080136 |
| is_a | DOID:4 | DOID:0080136 |
| is_a | DOID:700 | DOID:0080136 |
| is_a | DOID:0050739 | DOID:0080136 |
| is_a | DOID:655 | DOID:0080136 |
