14 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: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:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
| 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:0050706 | variable age at onset electroclinical syndrome | An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. |
| DOID:891 | progressive myoclonus epilepsy | A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. |
| DOID:0111451 | progressive myoclonus epilepsy 8 | A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. |
13 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0050737 | DOID:0111451 |
| is_a | DOID:891 | DOID:0111451 |
| is_a | DOID:331 | DOID:0111451 |
| is_a | DOID:630 | DOID:0111451 |
| is_a | DOID:863 | DOID:0111451 |
| is_a | DOID:0050739 | DOID:0111451 |
| is_a | DOID:0050706 | DOID:0111451 |
| is_a | DOID:0050177 | DOID:0111451 |
| is_a | DOID:0050701 | DOID:0111451 |
| is_a | DOID:936 | DOID:0111451 |
| is_a | DOID:7 | DOID:0111451 |
| is_a | DOID:4 | DOID:0111451 |
| is_a | DOID:1826 | DOID:0111451 |
