8 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:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
| 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:13810 | familial hypercholesterolemia | A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. |
| DOID:0090105 | autosomal recessive hypercholesterolemia | A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. |
| DOID:1168 | familial hyperlipidemia |
7 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:13810 | DOID:0090105 |
| is_a | DOID:630 | DOID:0090105 |
| is_a | DOID:4 | DOID:0090105 |
| is_a | DOID:0014667 | DOID:0090105 |
| is_a | DOID:1168 | DOID:0090105 |
| is_a | DOID:655 | DOID:0090105 |
| is_a | DOID:3146 | DOID:0090105 |
