17 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |
| 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:863 | nervous system disease | A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. |
| DOID:0014667 | disease of metabolism | A disease that involves errors in metabolic processes of building or degradation of molecules. |
| DOID:936 | brain disease | A central nervous system disease that is located_in the brain. |
| DOID:331 | central nervous system disease | A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. |
| 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:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
| 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:543 | dystonia | A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. |
| DOID:480 | movement disease | A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. |
| 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:0090045 | glucose transporter type 1 deficiency syndrome 2 | A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. |
16 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:543 | DOID:0090045 |
| is_a | DOID:0070560 | DOID:0090045 |
| is_a | DOID:0050736 | DOID:0090045 |
| is_a | DOID:331 | DOID:0090045 |
| is_a | DOID:0050739 | DOID:0090045 |
| is_a | DOID:863 | DOID:0090045 |
| is_a | DOID:630 | DOID:0090045 |
| is_a | DOID:0014667 | DOID:0090045 |
| is_a | DOID:4 | DOID:0090045 |
| is_a | DOID:7 | DOID:0090045 |
| is_a | DOID:655 | DOID:0090045 |
| is_a | DOID:936 | DOID:0090045 |
| is_a | DOID:4194 | DOID:0090045 |
| is_a | DOID:480 | DOID:0090045 |
| is_a | DOID:2978 | DOID:0090045 |
| is_a | DOID:0050177 | DOID:0090045 |
