7 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:2978 | carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| DOID:2977 | primary hyperoxaluria | A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. |
| DOID:0111670 | primary hyperoxaluria type 1 | A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. |
6 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:2977 | DOID:0111670 |
| is_a | DOID:630 | DOID:0111670 |
| is_a | DOID:2978 | DOID:0111670 |
| is_a | DOID:655 | DOID:0111670 |
| is_a | DOID:0014667 | DOID:0111670 |
| is_a | DOID:4 | DOID:0111670 |
