Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
chorée de Bergeron |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Dystonia |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Chronic progressive non-hereditary chorea |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Progressive cerebellar tremor |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Athetosis |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Birnbaum's syndrome |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Orofacial dyskinesia |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Gilles de la Tourette's syndrome |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Paramyoclonus multiplex |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Electric chorea |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Abortive cerebellar ataxia |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Familial essential myoclonus |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Olivopontocerebellar degeneration |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Dentatorubropallidoluysian degeneration |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Disorder of basal ganglia (disorder) |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Dyssynergia cerebellaris myoclonica |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
A form of dyskinetic cerebral palsy with slow, writhing movements that are often repetitive, sinuous, and rhythmic. |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Combined pyramidal-extrapyramidal syndrome |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Juvenile cerebellar degeneration AND myoclonus |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Opticocochleodentate degeneration |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Diffuse Lewy body disease (disorder) |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Chorea due to immunoglobulin A vasculitis (disorder) |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Progressive pyramidopallidal degeneration |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Hemichorea |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Neuroleptic malignant syndrome |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
syndrome de Shy-Drager |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Corticobasal degeneration |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Pallidoluysian degeneration |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Pigmentary pallidal degeneration |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Parkinsonism |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Pallidopontonigral degeneration |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Choreoathetosis |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Juvenile paralysis agitans of Hunt |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Huntington's chorea |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Pallidonigroluysian degeneration |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Hemiballism |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Choreoacanthocytosis |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Pallidonigral degeneration |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Pallidonigrospinal degeneration |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
A less common type of cerebral palsy defined by decreased and/or fluctuating muscle tone; multiple forms of non-spastic cerebral palsy are each characterized by particular impairments; one of the main characteristics of non-spastic cerebral palsy is involuntary movement. Subtypes include ataxic and dyskinetic forms. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Huntington disease-like syndrome |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
This syndrome is characterized by the association of myoclonus, cerebellar ataxia and sensorineural hearing loss. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated. |
Is a |
False |
Extrapyramidal disease |
Inferred relationship |
Some |
|
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Benedikt's syndrome (disorder) |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
A rare genetic neurodegenerative disease characterized by childhood onset of slowly progressive motor and cognitive regression, resulting in intellectual disability and loss of language and ambulation, associated with the appearance of dystonia, parkinsonism, chorea, or rigidity. Ataxia, dysarthria, and seizures have also been reported. Head circumference percentiles may decline over time. Brain imaging shows progressive cerebral and cerebellar atrophy, in some patients also thinning of the corpus callosum. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Progressive supranuclear ophthalmoplegia |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
Involuntary movement characterised by brief, unpredictable, irregular, non-stereotyped movements that flow randomly from one body part to another. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|
A lethal form of pontocerebellar hypoplasia with characteristics of prenatal onset of microcephaly, hypoplasia of the cerebellum, brainstem, and spinal cord, dysmorphic craniofacial features such as sloping forehead and micrognathia, and multiple contractures. Supratentorial atrophy has also been reported. |
Is a |
True |
Extrapyramidal disease |
Inferred relationship |
Some |
|