9 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. |
| DOID:0111069 | congenital bile acid synthesis defect 2 | A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. |
8 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050674 | DOID:0111069 |
| is_a | DOID:0080015 | DOID:0111069 |
| is_a | DOID:630 | DOID:0111069 |
| is_a | DOID:3146 | DOID:0111069 |
| is_a | DOID:655 | DOID:0111069 |
| is_a | DOID:1701 | DOID:0111069 |
| is_a | DOID:4 | DOID:0111069 |
| is_a | DOID:0014667 | DOID:0111069 |
