10 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 involves 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: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:2978 | carbohydrate metabolic disorder | An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. |
| DOID:4194 | glucose metabolism disease | A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. |
| DOID:0070560 | glucose transporter type 1 deficiency syndrome | A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2. |
| DOID:0070561 | glucose transporter type 1 deficiency syndrome 1 | A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. |
9 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0070560 | DOID:0070561 |
| is_a | DOID:655 | DOID:0070561 |
| is_a | DOID:630 | DOID:0070561 |
| is_a | DOID:4 | DOID:0070561 |
| is_a | DOID:0014667 | DOID:0070561 |
| is_a | DOID:0050739 | DOID:0070561 |
| is_a | DOID:4194 | DOID:0070561 |
| is_a | DOID:2978 | DOID:0070561 |
| is_a | DOID:0050177 | DOID:0070561 |
