Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acquired horizontal gaze palsy (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ophthalmoplegia due to abetalipoproteinemia (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Isolated acquired horizontal gaze palsy (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital fibrosis syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital horizontal gaze palsy (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Isolated congenital horizontal gaze paresis |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Intermittent horizontal conjugate gaze deviation (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Intermittent upward gaze deviation |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Horizontal gaze preference (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ophthalmoplegia due to and following Guillain-Barré syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Ophthalmoplegia due to neuropathy (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paralysis of downgaze |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paralysis of upgaze |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Combined paralysis of upgaze and downgaze (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Wall-eyed bilateral internuclear ophthalmoplegia syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Absence of placental secretion of chorionic gonadotropin |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Intellectual disability, spasticity, ectrodactyly syndrome |
Has interpretation |
True |
Absent |
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. |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
13 |
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. |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
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. |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
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. |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Hypotonic cerebral palsy |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Allan-Herndon-Dudley syndrome |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Pseudoprogeria syndrome |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Tardy left ulnar nerve palsy |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Severe oculo-renal-cerebellar syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Vertical one-and-a-half syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Periodic alternating gaze deviation |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ophthalmoplegia due to phytanic acid storage disease (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sustained upward gaze deviation |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sustained horizontal conjugate gaze deviation, contralateral type |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Sustained horizontal conjugate gaze deviation, ipsilateral type (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Sustained horizontal conjugate gaze deviation |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Paralytic shellfish poisoning |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Hypothalamic adipsic hypernatremia syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Traumatic loss of tooth |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant complex hereditary spastic paraplegia (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital multi-minicore disease with external ophthalmoplegia (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
Andersen Tawil syndrome |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Congenital insensitivity to pain, anosmia, neuropathic arthropathy |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
No active range of ankle dorsiflexion (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
No passive range of ankle dorsiflexion (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
No passive range of ankle plantar flexion |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
No active range of ankle plantar flexion (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Tooth unerupted (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fisher's syndrome |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Fisher's syndrome |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Intumescent cataract |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Congenital total cataract |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mature cataract |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Total, mature senile cataract |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Cataract glaucoma syndrome (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Shrunken cataract (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hypermature cataract (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Morgagnian cataract (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypermature senile cataract |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypermature senile cataract of right eye |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hypermature senile cataract of left eye (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bilateral hypermature senile cataracts of eyes |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ataxic hemiparesis due to and following lacunar infarction (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Lacunar ataxic hemiparesis of right dominant side |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Lacunar ataxic hemiparesis of left dominant side |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Lacunar ataxic hemiparesis of left nondominant side |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Lacunar ataxic hemiparesis of right nondominant side |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pure motor hemiparesis due to and following lacunar infarction (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pure sensorimotor motor hemiparesis due to and following lacunar infarction (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Pure sensorimotor motor hemiparesis due to and following lacunar infarction (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Pure sensory lacunar infarction |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Facial palsy House-Brackmann grade V of right facial nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Left facial palsy House-Brackmann grade V |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Facial palsy House-Brackmann grade VI of left facial nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Right facial palsy House-Brackmann grade VI |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Facial palsy House-Brackmann grade IV of left facial nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Right facial palsy House-Brackmann grade IV |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Facial palsy House-Brackmann grade III of left facial nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Right facial palsy House-Brackmann grade III |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Facial palsy House-Brackmann grade II of left facial nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Facial palsy House-Brackmann grade II of right facial nerve (disorder) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Anovulation |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Left progressive external ophthalmoplegia |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Right progressive external ophthalmoplegia |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Drug induced central sleep apnoea |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Chest movement absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Absent acoustic reflex |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Absent tensor tympani muscle reflex (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Absent reflex on one side of body (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Dark adapted electroretinogram response absent (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Electroretinogram response absent (finding) |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Light adapted electroretinogram response absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Light and dark adapted electroretinogram response absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Pattern electroretinogram response absent |
Has interpretation |
True |
Absent |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |