12 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: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: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:0060937 | dystonia 30 | A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. |
11 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0060937 |
| is_a | DOID:543 | DOID:0060937 |
| is_a | DOID:0050739 | DOID:0060937 |
| is_a | DOID:331 | DOID:0060937 |
| is_a | DOID:7 | DOID:0060937 |
| is_a | DOID:630 | DOID:0060937 |
| is_a | DOID:4 | DOID:0060937 |
| is_a | DOID:863 | DOID:0060937 |
| is_a | DOID:0050177 | DOID:0060937 |
| is_a | DOID:480 | DOID:0060937 |
| is_a | DOID:936 | DOID:0060937 |
