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: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:3146 | lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
| DOID:1168 | familial hyperlipidemia | |
| DOID:0111417 | familial chylomicronemia syndrome | A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. |
| DOID:0111421 | familial apolipoprotein A5 deficiency | A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. |
10 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0111421 |
| is_a | DOID:0111417 | DOID:0111421 |
| is_a | DOID:0050739 | DOID:0111421 |
| is_a | DOID:630 | DOID:0111421 |
| is_a | DOID:3146 | DOID:0111421 |
| is_a | DOID:1168 | DOID:0111421 |
| is_a | DOID:655 | DOID:0111421 |
| is_a | DOID:0050177 | DOID:0111421 |
| is_a | DOID:4 | DOID:0111421 |
| is_a | DOID:0014667 | DOID:0111421 |
