Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Acquired horizontal gaze palsy (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ophthalmoplegia due to abetalipoproteinemia (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Isolated acquired horizontal gaze palsy (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital fibrosis syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital horizontal gaze palsy (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Isolated congenital horizontal gaze paresis |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Intermittent horizontal conjugate gaze deviation (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Intermittent upward gaze deviation |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Horizontal gaze preference (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ophthalmoplegia due to and following Guillain-Barré syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Ophthalmoplegia due to neuropathy (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paralysis of downgaze |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paralysis of upgaze |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Combined paralysis of upgaze and downgaze (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Wall-eyed bilateral internuclear ophthalmoplegia syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Intellectual disability, spasticity, ectrodactyly syndrome |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
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. |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
13 |
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Vertical one-and-a-half syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Facial palsy House-Brackmann grade IV (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Facial palsy House-Brackmann grade II (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Facial palsy House-Brackmann grade III (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Severe dysfunction of the facial nerve evidenced by barely perceptible movement, facial asymmetry at rest, absence of forehead movement, incomplete eye closure, and only slight movement of the mouth. |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypotonic cerebral palsy |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Periodic paralysis (finding) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Allan-Herndon-Dudley syndrome |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Pseudoprogeria syndrome |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Tardy left ulnar nerve palsy |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Periodic alternating gaze deviation |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ophthalmoplegia due to phytanic acid storage disease (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sustained upward gaze deviation |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sustained horizontal conjugate gaze deviation, contralateral type |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Sustained horizontal conjugate gaze deviation, ipsilateral type (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Sustained horizontal conjugate gaze deviation |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Paralytic shellfish poisoning |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal dominant complex hereditary spastic paraplegia (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital multi-minicore disease with external ophthalmoplegia (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Fahr's syndrome |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Basal ganglia degeneration with calcification (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant late onset basal ganglia degeneration (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 1 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 2 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 3 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 4 |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Aicardi Goutieres syndrome type 5 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Drug-induced chorea (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chorea due to heredodegenerative disorder |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Oral choreiform movement |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea co-occurrent and due to Huntington disease-like condition (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Paroxysmal choreoathetosis (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Choreoathetosis |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to inherited organic acidaemia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to and following injury of head |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to antiphospholipid syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to chronic hepatocerebral degeneration |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to endocrine disorder |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to hyperglycaemia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to Huntington disease-like 3 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chorea due to tardive dyskinesia |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to prion disease (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to Lesch-Nyhan syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to metabolic disorder |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to inherited aminoaciduria (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to anoxia of brain (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea caused by dopamine receptor antagonist (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to hereditary ataxia (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to and following ventriculoperitoneal shunt (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea caused by oral contraceptive (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to cerebral injury due to birth trauma |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to ataxia telangiectasia syndrome (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to immunological disorder (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to neuroferritinopathy |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to polycythemia rubra vera |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to widespread metastatic malignant neoplastic disease (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to hypoparathyroidism (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to classical pantothenate kinase associated neurodegeneration (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chorea due to Huntington disease-like 2 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Chorea due to mitochondrial cytopathy |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to inborn error of metabolism (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to paraneoplastic syndrome |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to hyponatremia (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Chorea due to Huntington disease-like 1 (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Chorea co-occurrent and due to Wilson disease (disorder) |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Choreoacanthocytosis |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Dentatorubropallidoluysian degeneration |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Henoch's chorea |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Wilson's disease |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Pallidonigrospinal degeneration |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Rheumatic chorea with heart involvement |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Huntington's chorea |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pallidonigral degeneration |
Interprets |
True |
Movement observable |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |