Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Monoplegia of upper limb due to and following ischemic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hemiplegia of nondominant side due to and following embolic cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Paraplegia due to and following cerebrovascular accident (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Acute paralytic poliomyelitis, vaccine-associated |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acute bulbar poliomyelitis caused by Human poliovirus 2 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acute bulbar poliomyelitis caused by Human poliovirus 1 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acute paralytic poliomyelitis due to Human poliovirus 1 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acute paralytic poliomyelitis caused by Human poliovirus 2 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Acute paralytic poliomyelitis due to Human poliovirus 3 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Congenital fibrosis of inferior rectus muscle |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Severe intellectual disability and progressive spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal recessive spastic paraplegia type 27 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
MT-ATP6-related mitochondrial spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 3 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal recessive spastic paraplegia type 69 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 71 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal spastic paraplegia type 72 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Inherited congenital spastic tetraplegia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive spastic paraplegia type 14 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
Autosomal dominant spastic paraplegia type 38 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
X-linked spastic paraplegia type 16 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant spastic paraplegia type 13 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 56 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 24 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 8 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Progressive external ophthalmoplegia of bilateral eyes (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Hemiparesis of left side of face (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hemiparesis of right side of face (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Autosomal dominant progressive external ophthalmoplegia type 5 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal dominant progressive external ophthalmoplegia type 3 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal dominant progressive external ophthalmoplegia type 4 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal dominant progressive external ophthalmoplegia type 1 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Autosomal dominant progressive external ophthalmoplegia type 2 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Atypical progressive supranuclear palsy syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
X-linked complex hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
X-linked pure hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Progressive supranuclear palsy corticobasal syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Progressive supranuclear palsy progressive non fluent aphasia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Exophthalmic ophthalmoplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Monoparesis of lower limb |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiplegia and/or hemiparesis following stroke |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ophthalmoplegia due to diabetes mellitus (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Hemiparesis as late effect of cerebrovascular disease |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Monoplegia of arm dominant side as sequela of cerebrovascular disease |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare complex hereditary spastic paraplegia characterised by neonatal to infantile onset of progressive spasticity in the lower limbs, hyperreflexia, tip-toe walking, pes equinus, and delayed motor developmental milestones. Kyphoscoliosis becomes evident in older patients, and most patients show atrophy of the lateral aspects of the tongue. Additional signs may include intellectual disability, language impairment, and moderate upper limb involvement. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Autosomal recessive spastic paraplegia type 74 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Autosomal dominant hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
X-linked hereditary spastic paraplegia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal recessive hereditary spastic paraplegia |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Autosomal dominant spastic paraplegia type 9B (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 9A |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
A rare complex hereditary spastic paraplegia characterized by early onset of slowly progressive spastic para- or tetraparesis, increased tendon reflexes, positive Babinski sign, global developmental delay, cognitive impairment, and pseudobulbar palsy. Additional manifestations include dysmorphic facial features, tremor, short stature, and urinary incontinence. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal dominant spastic paraplegia type 73 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 75 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 77 |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Autosomal recessive spastic paraplegia type 78 (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Lethal neonatal spasticity, epileptic encephalopathy syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Acquired horizontal gaze palsy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ophthalmoplegia due to abetalipoproteinemia (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Isolated acquired horizontal gaze palsy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Congenital fibrosis syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Congenital horizontal gaze palsy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Isolated congenital horizontal gaze paresis |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Intermittent horizontal conjugate gaze deviation (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Intermittent upward gaze deviation |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Horizontal gaze preference (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Ophthalmoplegia due to and following Guillain-Barré syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
Ophthalmoplegia due to neuropathy (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Paralysis of downgaze |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Paralysis of upgaze |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Combined paralysis of upgaze and downgaze (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Wall-eyed bilateral internuclear ophthalmoplegia syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Pseudoprogeria syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
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 |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
Vertical one-and-a-half syndrome (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome |
Interprets |
True |
Movement |
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. |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
12 |
Periodic alternating gaze deviation |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Ophthalmoplegia due to phytanic acid storage disease (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
Sustained upward gaze deviation |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Sustained horizontal conjugate gaze deviation, contralateral type |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sustained horizontal conjugate gaze deviation, ipsilateral type (disorder) |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Sustained horizontal conjugate gaze deviation |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Paralytic shellfish poisoning |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
Aspergillus clavatus tremors |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Tremor due to substance withdrawal |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Impairment of motor nerve function as a complication of cutaneous surgery |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Bobble-head doll syndrome |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Amyotrophic lateral sclerosis with parkinsonism |
Interprets |
True |
Movement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |