15 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:0050701 | electroclinical syndrome | An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. |
| DOID:1826 | epilepsy | A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. |
| DOID:0070309 | absence epilepsy | An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. |
| DOID:0050705 | adolescence-adult electroclinical syndrome | An electroclinical syndrome with onset in adolescence and adulthood. |
| DOID:0111689 | familial adult myoclonic epilepsy | An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. |
| DOID:0111693 | familial adult myoclonic epilepsy 4 | A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. |
14 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050736 | DOID:0111693 |
| is_a | DOID:0111689 | DOID:0111693 |
| is_a | DOID:331 | DOID:0111693 |
| is_a | DOID:630 | DOID:0111693 |
| is_a | DOID:0070309 | DOID:0111693 |
| is_a | DOID:0050705 | DOID:0111693 |
| is_a | DOID:863 | DOID:0111693 |
| is_a | DOID:0050739 | DOID:0111693 |
| is_a | DOID:0050177 | DOID:0111693 |
| is_a | DOID:0050701 | DOID:0111693 |
| is_a | DOID:936 | DOID:0111693 |
| is_a | DOID:7 | DOID:0111693 |
| is_a | DOID:1826 | DOID:0111693 |
| is_a | DOID:4 | DOID:0111693 |
