Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. |
Finding site |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
4 |
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. |
Finding site |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
4 |
A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Huntington disease-like syndrome |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
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). |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism co-occurrent and due to acute infection (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Parkinsonism due to human immunodeficiency virus infection (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism following infection (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Parkinsonism due to hereditary spastic paraplegia (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Atypical Parkinsonism (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism due to heredodegenerative disorder (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
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. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. |
Finding site |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
7 |
A complex form of young-onset Parkinson disease that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Infection causing parkinsonism (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Sporadic Parkinson disease (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism due to and following injury of head (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Parkinsonism due to mass lesion of brain (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Chorea co-occurrent and due to Huntington disease-like condition (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Functional parkinsonism (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Corticobasal degeneration |
Finding site |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Traumatic hemorrhage of basal ganglia |
Finding site |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Traumatic hemorrhage of basal ganglia |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
A rare parkinsonian syndrome due to intoxication which develops in individuals surviving an acute cyanide intoxication episode or due to chronic exposure to small cyanide doses. It presents several weeks after acute exposure with progressive typical clinical features of parkinsonism including bradykinesia, rigidity, dystonia, hypomimia, hypokinetic dysarthria, postural instability and retropulsion but no resting or postural tremor. Brain MRI reveals bilateral lesions in the pallidum, posterior putamen, substantia nigra, subthalamic nucleus, temporal and occipital cortex, and cerebellum. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare disorder characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare, genetic, neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonian-pyramidal syndrome is a rare, genetic, neurological disorder characterized by the association of both parkinsonian (i.e. bradykinesia, rigidity and/or rest tremor) and pyramidal (i.e. increased reflexes, extensor plantar reflexes, pyramidal weakness or spasticity) manifestations, which vary according to the underlying associated disease (e.g. neurodegenerative disease, inborn errors of metabolism). |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Calcification of basal ganglia (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Dissociative neurological symptom disorder co-occurrent with parkinsonism (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare neuronal ceroid lipofuscinosis disorder characterized by juvenile-onset of progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and, occasionally the retina, upon postmortem. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific Island of Guam. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
4 |
Fahr's syndrome (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Neuroleptic-induced parkinsonism |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism caused by methanol |
Finding site |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Parkinsonism caused by carbon disulfide (disorder) |
Finding site |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Traumatic hemorrhage of basal ganglia |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Cerebrovascular accident of basal ganglia (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Autosomal recessive familial Parkinson disease |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Progressive supranuclear palsy parkinsonism syndrome (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
MPTP-induced parkinsonism |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Carbon monoxide-induced parkinsonism |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Manganese-induced parkinsonism |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism caused by carbon disulfide (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism caused by drug |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism caused by methanol |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
On - off phenomenon (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Psychosis co-occurrent and due to Parkinson's disease (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism following Mycoplasma infection (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
4 |
Parkinsonism due to prion disease (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Cerebral nucleus |
Is a |
False |
Structure of basal nucleus |
Inferred relationship |
Some |
|
Toxin-induced parkinsonism |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism caused by pesticide (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Aicardi Goutieres syndrome type 1 |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Aicardi Goutieres syndrome type 2 |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Aicardi Goutieres syndrome type 3 |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Aicardi Goutieres syndrome type 4 (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Aicardi Goutieres syndrome type 5 (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare genetic central nervous system malformation characterized by dysplasia of the superior cerebellum (especially the vermis), brainstem asymmetry, dysplasia of the basal ganglia, and cortical irregularities with asymmetric abnormalities in gyral size and orientation, as well as varying sulcal depth, but without lissencephaly, pachygyria, or polymicrogyria. Clinically, patients present global developmental delay with motor development usually being more affected that speech. Variable features are abnormal eye movements including oculomotor apraxia, strabismus, seizures, and behavioral problems. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
A rare multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, choreoathetosis, progressive spastic diplegia, progressive tapetoretinal degeneration with loss of retinal vessels, and glomerulopathy resulting in death late in the first or early in the second decade of life. Absence of the cerebellar granular layer has been reported. There have been no further descriptions in the literature since 1982. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
5 |
A rare neurologic disease characterized by multifaceted motor system dysfunctions and cognitive defects such as asymmetric rigidity, bradykinesia, limb apraxia, and visuospatial dysfunction. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
A rare genetic neurological disorder characterized by childhood-onset dystonia with distinctive MRI changes in the basal ganglia, and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria, or nystagmus, among others. Motor disability progresses gradually, while cognitive function is relatively spared. |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis with parkinsonism |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of Kii Peninsula (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
4 |
Amyotrophic lateral sclerosis, parkinsonism, dementia complex of West New Guinea (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
4 |
Chorea due to Huntington disease-like 3 (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Chorea due to Huntington disease-like 2 (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
4 |
Chorea due to Huntington disease-like 1 (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Hemichorea due to injury of head (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Hemichorea due to cerebral arteriovenous malformation (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Hemichorea due to abscess of brain (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Hemichorea due to cerebral hemorrhage (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism caused by dopamine receptor antagonist (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Parkinsonism caused by dopamine depleting agent (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Hemichorea due to neoplasm of brain (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Hemichorea due to cerebral infarction (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Hemichorea due to multiple sclerosis (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Oral choreiform movement |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Chorea due to neuroferritinopathy |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Dentatorubropallidoluysian degeneration |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Chorea due to immunoglobulin A vasculitis (disorder) |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Wilson's disease |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
5 |
Rheumatic chorea with heart involvement |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Dubini's chorea |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Chorea gravidarum |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Birnbaum's syndrome |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
3 |
Rheumatic chorea |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Chronic progressive non-hereditary chorea |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
2 |
Rheumatic chorea without heart involvement |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |
Westphal-Strumpell syndrome |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
5 |
Benign hereditary chorea |
Finding site |
True |
Structure of basal nucleus |
Inferred relationship |
Some |
1 |