Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Infantile convulsion and choreoathetosis syndrome (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paroxysmal dystonic choreoathetosis with episodic ataxia and spasticity (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primary progressive freezing gait syndrome (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary dystonia type 2 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive dopa responsive dystonia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Primary dystonia 21 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Maternally inherited mitochondrial dystonia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia. |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hereditary geniospasm (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Insomnia due to periodic limb movement disorder (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dystonia of right hand |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dystonia of left hand (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Shuddering attacks (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Sporadic olivopontocerebellar atrophy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Focal dystonia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dystonia of head (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Spasmodic torticolis as late effect of trauma |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Spasmodic torticollis due to infection |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Blepharospasm of right eyelid (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Blepharospasm of left eyelid |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral blepharospasm |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primary dystonia DYT17 type (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic persistent combined dystonia disorder characterized by slowly progressive severe caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia, swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades, subclinical epilepsy, photic myoclonus, oral hypertrophic changes (for example gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tremor, nystagmus, duodenal ulcer syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures, generalised tonic-clonic seizures (which are often sleep-related) and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated. |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic neurological disorder characterised by early-onset progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalised tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels and relative preservation of cognitive function until late in the disease course. There is evidence the disease is caused by homozygous mutation in the GOSR2 gene on chromosome 17q21. |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Progressive myoclonic epilepsy type 3 (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
A rare genetic neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy. There is evidence the disease may be caused by homozygous mutation in the CERS1 gene on chromosome 19p12. |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Cranio-cervical dystonia with laryngeal and upper limb involvement (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Adult-onset cervical dystonia DYT23 type (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial infantile myoclonic epilepsy (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Familial congenital mirror movements (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare genetic human prion disease characterised by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioural 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 generalised spasticity, seizures, urine incontinence and pyramidal abnormalities. There is evidence the disease is caused by 8 extra octapeptide repeats in the PRNP gene on chromosome 20p13. |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Movement disorder due to toxicity of substance (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Idiopathic orofacial dystonia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Edentulous orofacial dystonia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Refractory myoclonic epilepsy |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Idiopathic familial dystonia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Idiopathic torsion dystonia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Movement disorder |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Apraxia as late effect of cerebrovascular disease |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Apraxia due to cerebrovascular accident |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Psychosis co-occurrent and due to Parkinson's disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to and following encephalitis |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ataxia due to disorder of immune function (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cranial nerve palsy due to diabetes mellitus |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cranial nerve palsy with type 1 diabetes mellitus |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cranial nerve palsy due to type 2 diabetes mellitus |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Childhood-onset basal ganglia degeneration syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Infantile-onset generalised dyskinesia with orofacial involvement |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Facial diplegia with paraesthesia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Tic disorder due to rheumatic chorea |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tic disorder due to prion disease |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tic disorder due to encephalitis (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Neurosyphilitic tic disorder |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hyperphenylalaninemia due to DNAJC12 deficiency |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tic disorder due to post-encephalitic syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Parkinsonism following Mycoplasma infection (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Parkinsonism due to prion disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Nail dystrophy due to habit tic (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Callosity due to habit tic (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
callosité causée par le fait de mordre et/ou de mâcher |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Akathisia caused by drug (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Akathisia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Acute akathisia caused by drug (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Classical pantothenate kinase associated neurodegeneration (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Atypical pantothenate kinase associated neurodegeneration (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Toxin-induced parkinsonism |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Parkinsonism caused by pesticide (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dopa responsive dystonia due to sepiapterin reductase deficiency |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Dystonia due to Leigh syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Bell's palsy (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Paradoxical facial movements |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hyperexplexia (finding) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Oral dyskinesia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Excessive blinking - involuntary |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tremor of palate (finding) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ataxia due to mitochondrial mutations |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tremor due to metabolic disorder |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Tremor due to substance abuse |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Hereditary hyperekplexia is a hereditary neurological disorder characterised by excessive startle responses. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Primary progressive freezing gait syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Primary orthostatic tremor (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chronic hiccup is a rare movement disorder characterized by involuntary spasmodic contractions of the inspiratory muscles synchronized with larynx closure lasting for more than 48 hours. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tardy left ulnar nerve palsy |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Sporadic hyperekplexia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Psychogenic movement disorder (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
False |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Familial infantile bilateral striatal necrosis |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive myoclonic epilepsy type 7 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autoimmune generalized polymyoclonus |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cerebellar ataxia with oculomotor apraxia type 4 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Primary dystonia DYT27 type |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Progressive myoclonic epilepsy type 9 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |