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:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| 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:0050674 | congenital bile acid synthesis defect | A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. |
| DOID:1701 | steroid inherited metabolic disorder | A lipid metabolism disorder that involves defects in steroid metabolism. |
| DOID:3146 | lipid metabolism disorder | An inherited metabolic disorder that involves the creation and degradation of lipids. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080015 | DOID:0050674 |
| is_a | DOID:1701 | DOID:0050674 |
| is_a | DOID:630 | DOID:0050674 |
| is_a | DOID:4 | DOID:0050674 |
| is_a | DOID:0014667 | DOID:0050674 |
| is_a | DOID:655 | DOID:0050674 |
| is_a | DOID:3146 | DOID:0050674 |
| is_a | DOID:0050674 | DOID:0111066 |
| is_a | DOID:0050674 | DOID:0111067 |
| is_a | DOID:0050674 | DOID:0111068 |
| is_a | DOID:0050674 | DOID:0111069 |
| is_a | DOID:0050674 | DOID:0111070 |
| is_a | DOID:0050674 | DOID:0111071 |
